#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
PATL1	219988	broad.mit.edu	37	11	59421522	59421523	+	Frame_Shift_Ins	INS	-	-	ATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:59421522_59421523insATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	ENST00000300146.9	-	9	1138_1139	c.1054_1055insTGTTAAAATTAAAAGCTGAATTAAGAAGCCATAAAGGAAT	c.(1054-1056)ccgfs	p.P352fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	352	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGTTGTGTCCGGTCTAAACATT	0.431																																						ENST00000300146.9		NA																	0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1054-1056)ccgfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59421522_59421523insATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1054_1055insTGTTAAAATTAAAAGCTGAATTAAGAAGCCATAAAGGAAT	11.37:g.59421522_59421523insATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	ENSP00000300146:p.Pro352fs	False	False		Somatic	0					p.P352fs	NM_152716.2	NP_689929.2	WXS	Illumina HiSeq	Phase_I	Q86TB9	PATL1_HUMAN			9	1138_1139	-			352			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.1054_1055insTGTTAAAATTAAAAGCTGAATTAAGAAGCCATAAAGGAAT	CCDS44613.1																																																																																				0.431	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	0	NM_152716		11:59421522
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
DENND4B	9909	broad.mit.edu	37	1	153907304	153907306	+	In_Frame_Del	DEL	TGT	TGT	-	rs2275483|rs35902206|rs557071025|rs375088543	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:153907304_153907306delTGT	ENST00000361217.4	-	18	3121_3123	c.2703_2705delACA	c.(2701-2706)caacag>cag	p.901_902QQ>Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q789Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgctgctgctgttgctgctgct	0.645																																						ENST00000361217.4		NA																	2	Substitution - coding silent(2)	p.Q789Q(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2701-2706)caacag>cag		DENN/MADD domain containing 4B																																				SO:0001651	inframe_deletion	9909							g.chr1:153907304_153907306delTGT	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2703_2705delACA	1.37:g.153907304_153907306delTGT	ENSP00000354597:p.Gln910del	True	False		Somatic	1					p.901_902QQ>Q	NM_014856.2	NP_055671.2	WXS	Illumina HiSeq	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3121_3123	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		901			Gln-rich.		Q5T4K0	In_Frame_Del	DEL	ENST00000361217.4	37	c.2703_2705delACA	CCDS44228.1																																																																																				0.645	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	0	XM_375806		1:153907304
ZMYM5	9205	broad.mit.edu	37	13	20399225	20399226	+	Frame_Shift_Ins	INS	-	-	ATACATTTCAAGAGCAACTGGAAGAGAAAAATTT			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:20399225_20399226insATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	ENST00000337963.4	-	8	1665_1666	c.1401_1402insAAATTTTTCTCTTCCAGTTGCTCTTGAAATGTAT	c.(1399-1404)tcacagfs	p.Q468fs		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	468						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		agctgtagctgtgaagtctttt	0.361																																						ENST00000337963.4		NA																	0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1399-1404)tcacagfs		zinc finger, MYM-type 5																																				SO:0001589	frameshift_variant	9205					nucleus	zinc ion binding	g.chr13:20399225_20399226insATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1401_1402insAAATTTTTCTCTTCCAGTTGCTCTTGAAATGTAT	13.37:g.20399225_20399226insATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	ENSP00000337034:p.Gln468fs	False	False		Somatic	0					p.Q468fs	NM_001142684.1	NP_001136156.1	WXS	Illumina HiSeq	Phase_I	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	1665_1666	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	468					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Frame_Shift_Ins	INS	ENST00000337963.4	37	c.1401_1402insAAATTTTTCTCTTCCAGTTGCTCTTGAAATGTAT																																																																																					0.361	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_014242		13:20399225
MBIP	51562	broad.mit.edu	37	14	36783734	36783735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:36783734_36783735insT	ENST00000416007.4	-	4	641_642	c.554_555insA	c.(553-555)gttfs	p.V185fs	MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	185	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TACAATCAATAACATTGCAAAA	0.277																																						ENST00000416007.4		NA																	0				breast(2)|large_intestine(1)|lung(5)	8						c.(553-555)gttfs		MAP3K12 binding inhibitory protein 1																																				SO:0001589	frameshift_variant	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783734_36783735insT	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.554_555insA	14.37:g.36783734_36783735insT	ENSP00000399718:p.Val185fs	False	False		Somatic	0				MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs	p.V185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	WXS	Illumina HiSeq	Phase_I	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	641_642	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		185			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Ins	INS	ENST00000416007.4	37	c.554_555insA	CCDS9658.1																																																																																				0.277	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	0	NM_016586		14:36783734
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G	rs558156059		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e6+2		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insG	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->G	15.37:g.41857341_41857342insG		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41857341
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971152	+	Frame_Shift_Del	DEL	CAGTTGGGCT	CAGTTGGGCT	-	rs559848002|rs372670098		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CAGTTGGGCT	CAGTTGGGCT	-	-	CAGTTGGGCT	CAGTTGGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:21971143_21971152delCAGTTGGGCT	ENST00000304494.5	-	2	476_485	c.206_215delAGCCCAACTG	c.(205-216)gagcccaactgcfs	p.EPNC69fs	CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG	0.719		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000479692.2		17																	1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(13)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)	haematopoietic_and_lymphoid_tissue(286)|skin(178)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(61)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(37)|pancreas(34)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD044135|CM023691|CM040398|CM065061|CM940228|CM980328|CM983987	CDKN2A|p14arf	D|M		c.(52-63)gagcccaactgcfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971143_21971152delCAGTTGGGCT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.206_215delAGCCCAACTG	9.37:g.21971143_21971152delCAGTTGGGCT	ENSP00000307101:p.Glu69fs	True	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|RP11-145E5.5_ENST00000404796.2_Intron	p.EPNC18fs			WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	67_76	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	69					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.53_62delAGCCCAACTG	CCDS6510.1																																																																																				0.719	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971143
TMEFF1	8577	broad.mit.edu	37	9	103261139	103261140	+	In_Frame_Ins	INS	-	-	ATATATTTGGCTTTTTATTAC			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:103261139_103261140insATATATTTGGCTTTTTATTAC	ENST00000374879.4	+	2	721_722	c.289_290insATATATTTGGCTTTTTATTAC	c.(289-291)tgt>tATATATTTGGCTTTTTATTACgt	p.97_97C>YIFGFLLR	MSANTD3-TMEFF1_ENST00000502978.1_In_Frame_Ins_p.60_60M>IYIWLFIT|TMEFF1_ENST00000334943.6_In_Frame_Ins_p.58_58C>YIFGFLLR	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	97	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGTTTGAAATGTGCATGCCAA	0.327																																						ENST00000374879.4		NA																	0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(289-291)tgt>tATATATTTGGCTTTTTATTACgt		transmembrane protein with EGF-like and two follistatin-like domains 1																																				SO:0001652	inframe_insertion	8577							g.chr9:103261139_103261140insATATATTTGGCTTTTTATTAC	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	Exception_encountered	9.37:g.103261139_103261140insATATATTTGGCTTTTTATTAC	ENSP00000364013:p.Cys97delinsTyrIlePheGlyPheLeuLeuArg	False	False		Somatic	0				TMEFF1_ENST00000334943.6_In_Frame_Ins_p.58_58C>YIFGFLLR|MSANTD3-TMEFF1_ENST00000502978.1_In_Frame_Ins_p.60_60M>IYIWLFIT	p.97_97C>YIFGFLLR	NM_003692.4	NP_003683.2	WXS	Illumina HiSeq	Phase_I					2	721_722	+		Acute lymphoblastic leukemia(62;0.0452)	NA					Q13086|Q8N3T8	In_Frame_Ins	INS	ENST00000374879.4	37	c.289_290insATATATTTGGCTTTTTATTAC	CCDS6750.1																																																																																				0.327	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	0	NM_003692		9:103261139
UBP1	7342	broad.mit.edu	37	3	33467138	33467138	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:33467138G>A	ENST00000283629.3	-	2	738	c.209C>T	c.(208-210)gCt>gTt	p.A70V	UBP1_ENST00000447368.2_Missense_Mutation_p.A70V|UBP1_ENST00000283628.5_Missense_Mutation_p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	70					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGACGTTGCAGCACACATCAC	0.423																																						ENST00000283629.3		NA																	0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(208-210)gCt>gTt		upstream binding protein 1 (LBP-1a)							96.0	77.0	83.0					3																	33467138		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33467138G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.209C>T	3.37:g.33467138G>A	ENSP00000283629:p.Ala70Val	True	False		Somatic	0				UBP1_ENST00000447368.2_Missense_Mutation_p.A70V|UBP1_ENST00000283628.5_Missense_Mutation_p.A70V	p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	WXS	Illumina HiSeq	Phase_I	Q9NZI7	UBIP1_HUMAN			2	738	-			70					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.209C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478314	0.84747	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.92	5.92	0.95590	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.92459	3.31	0.80722	D	1	B;D	0.54207	0.275;0.965	B;P	0.55161	0.046;0.77	T	0.74259	-0.3723	10	0.87932	D	0	-11.8325	20.33	0.98713	0.0:0.0:1.0:0.0	.	70;70	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	70	ENSP00000283629:A70V;ENSP00000395558:A70V;ENSP00000283628:A70V;ENSP00000401614:A70V	ENSP00000283628:A70V	A	-	2	0	UBP1	33442142	1.000000	0.71417	0.961000	0.40146	0.928000	0.56348	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GCT		0.423	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	0	NM_014517		3:33467138
TEKT4	150483	broad.mit.edu	37	2	95542449	95542449	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:95542449C>T	ENST00000295201.4	+	6	1380	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	415					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCATCGACCGCCAGAAGTG	0.602																																						ENST00000295201.4		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1243-1245)Cgc>Tgc		tektin 4							81.0	58.0	66.0					2																	95542449		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542449C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1243C>T	2.37:g.95542449C>T	ENSP00000295201:p.Arg415Cys	False	False		Somatic	0				AC097374.2_ENST00000568768.1_RNA	p.R415C	NM_144705.2	NP_653306.1	WXS	Illumina HiSeq	Phase_I	Q8WW24	TEKT4_HUMAN			6	1380	+			415						Missense_Mutation	SNP	ENST00000295201.4	37	c.1243C>T	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.991699	0.54041	.	.	ENSG00000163060	ENST00000295201	T	0.03004	4.08	2.43	1.37	0.22104	.	0.113718	0.56097	D	0.000031	T	0.15565	0.0375	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	T	0.00972	-1.1495	10	0.87932	D	0	-12.3923	7.2052	0.25903	0.405:0.595:0.0:0.0	.	415	Q8WW24	TEKT4_HUMAN	C	415	ENSP00000295201:R415C	ENSP00000295201:R415C	R	+	1	0	TEKT4	94906176	0.118000	0.22208	1.000000	0.80357	0.869000	0.49853	-0.744000	0.04839	1.049000	0.40321	0.281000	0.19383	CGC		0.602	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	0	NM_144705		2:95542449
SETD1A	9739	broad.mit.edu	37	16	30976932	30976932	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:30976932G>C	ENST00000262519.8	+	8	2416	c.1730G>C	c.(1729-1731)tGc>tCc	p.C577S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	577	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCTTCTCCATGCTCTTCTGGA	0.657																																						ENST00000262519.8		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(1729-1731)tGc>tCc		SET domain containing 1A							22.0	26.0	25.0					16																	30976932		2191	4292	6483	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976932G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1730G>C	16.37:g.30976932G>C	ENSP00000262519:p.Cys577Ser	False	False		Somatic	0					p.C577S	NM_014712.1	NP_055527.1	WXS	Illumina HiSeq	Phase_I	O15047	SET1A_HUMAN			8	2416	+			577			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1730G>C	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	5.311	0.242720	0.10077	.	.	ENSG00000099381	ENST00000262519	D	0.93189	-3.18	4.41	3.37	0.38596	.	0.764642	0.12331	N	0.478349	T	0.81182	0.4769	N	0.08118	0	0.24087	N	0.995927	B	0.19935	0.04	B	0.14023	0.01	T	0.68273	-0.5452	10	0.08837	T	0.75	.	5.2236	0.15381	0.2079:0.0:0.7921:0.0	.	577	O15047	SET1A_HUMAN	S	577	ENSP00000262519:C577S	ENSP00000262519:C577S	C	+	2	0	SETD1A	30884433	0.979000	0.34478	0.999000	0.59377	0.934000	0.57294	1.378000	0.34328	2.269000	0.75478	0.561000	0.74099	TGC		0.657	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	0	NM_014712		16:30976932
NPAS4	266743	broad.mit.edu	37	11	66188745	66188745	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:66188745C>T	ENST00000311034.2	+	1	271	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	32	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCCGAAGCGGACAAGGTC	0.647																																						ENST00000311034.2		NA																	0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(94-96)gCg>gTg		neuronal PAS domain protein 4							66.0	53.0	57.0					11																	66188745		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66188745C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.95C>T	11.37:g.66188745C>T	ENSP00000311196:p.Ala32Val	False	False		Somatic	0					p.A32V	NM_178864.3	NP_849195.2	WXS	Illumina HiSeq	Phase_I	Q8IUM7	NPAS4_HUMAN			1	271	+			32			Helix-loop-helix motif.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.95C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313768	0.95655	.	.	ENSG00000174576	ENST00000311034	T	0.51071	0.72	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (1);	0.228511	0.31102	N	0.008255	T	0.42314	0.1197	N	0.14661	0.345	0.54753	D	0.99998	D	0.63880	0.993	P	0.53490	0.727	T	0.41016	-0.9532	10	0.62326	D	0.03	-4.3398	11.8591	0.52454	0.0:0.8243:0.1757:0.0	.	32	Q8IUM7	NPAS4_HUMAN	V	32	ENSP00000311196:A32V	ENSP00000311196:A32V	A	+	2	0	NPAS4	65945321	0.998000	0.40836	0.999000	0.59377	0.948000	0.59901	1.746000	0.38288	2.691000	0.91804	0.563000	0.77884	GCG		0.647	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	0	NM_178864		11:66188745
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCCAGCGTCCCTGCCAGGTA	0.468																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1		NA																	2	Substitution - Missense(2)	p.G85E(2)	NS(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(253-255)gGg>gAg		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						185.0	166.0	172.0					11																	104904955		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104904955C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.254G>A	11.37:g.104904955C>T	ENSP00000433138:p.Gly85Glu	True	False		Somatic	0				CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron	p.G85E	NM_001257118.1	NP_001244047.1	WXS	Illumina HiSeq	Phase_I	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	289	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	85			CARD.		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.254G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG		0.468	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	0	NM_033292		11:104904955
PPP2R2B	5521	broad.mit.edu	37	5	146080672	146080672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:146080672G>A	ENST00000394413.3	-	2	674	c.104C>T	c.(103-105)aCg>aTg	p.T35M	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCTCCCGTGTGGTTGAA	0.423																																						ENST00000394413.3		NA																	0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(103-105)aCg>aTg		protein phosphatase 2, regulatory subunit B, beta							265.0	276.0	272.0					5																	146080672		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080672G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.104C>T	5.37:g.146080672G>A	ENSP00000377935:p.Thr35Met	True	False		Somatic	0				PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M	p.T35M			WXS	Illumina HiSeq	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	674	-			35					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.104C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662241	0.88251	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.71341	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;-0.56	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.092479	0.64402	D	0.000001	D	0.85141	0.5629	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.993;0.993;0.998;0.996;0.984	P;P;P;P;P;P	0.61397	0.888;0.828;0.828;0.888;0.88;0.828	D	0.85944	0.1460	10	0.87932	D	0	-17.9695	20.6593	0.99626	0.0:0.0:1.0:0.0	.	93;41;24;101;38;35	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	35;24;101;35;35;35;24;38;41;93;15	ENSP00000377935:T35M;ENSP00000431320:T24M;ENSP00000377936:T101M;ENSP00000377933:T35M;ENSP00000349283:T35M;ENSP00000398779:T35M;ENSP00000377932:T24M;ENSP00000336591:T38M;ENSP00000421396:T41M;ENSP00000377931:T93M;ENSP00000421224:T15M	ENSP00000336591:T38M	T	-	2	0	AC011357.1	146060865	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.004000	0.88535	2.885000	0.99019	0.655000	0.94253	ACG		0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	0	NM_181678		5:146080672
TMEM30B	161291	broad.mit.edu	37	14	61746986	61746986	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:61746986G>A	ENST00000555868.1	-	1	1572	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	294					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V293fs*>57(1)		breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCGAACGCGCGCACCGGGTAG	0.657																																						ENST00000555868.1		NA																	1	Deletion - Frameshift(1)	p.V293fs*>57(1)	breast(1)	breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6						c.(880-882)Cgc>Tgc		transmembrane protein 30B							51.0	49.0	49.0					14																	61746986		2203	4300	6503	SO:0001583	missense	161291					integral to membrane		g.chr14:61746986G>A	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.880C>T	14.37:g.61746986G>A	ENSP00000450842:p.Arg294Cys	True	False		Somatic	0				TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C|TMEM30B_ENST00000557163.1_5'UTR	p.R294C	NM_001017970.2	NP_001017970.1	WXS	Illumina HiSeq	Phase_I	Q3MIR4	CC50B_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	1	1572	-			294					B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	c.880C>T	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030021	0.75504	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.67	3.77	0.43336	.	0.167016	0.39759	N	0.001265	T	0.60907	0.2305	M	0.79926	2.475	0.40875	D	0.983942	D	0.54397	0.966	B	0.44224	0.444	T	0.68123	-0.5492	9	0.52906	T	0.07	-30.0625	12.0352	0.53420	0.0:0.0:0.8264:0.1735	.	294	Q3MIR4	CC50B_HUMAN	C	294	.	ENSP00000347930:R294C	R	-	1	0	TMEM30B	60816739	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.801000	0.47908	1.163000	0.42636	0.650000	0.86243	CGC		0.657	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	0	XM_090844		14:61746986
P2RX7	5027	broad.mit.edu	37	12	121592733	121592733	+	Missense_Mutation	SNP	G	G	A	rs201451288		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:121592733G>A	ENST00000546057.1	+	2	414	c.271G>A	c.(271-273)Gca>Aca	p.A91T	P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	91					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGACACCGCAGACTACAC	0.557																																						ENST00000546057.1		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(271-273)Gca>Aca		purinergic receptor P2X, ligand-gated ion channel, 7							253.0	172.0	199.0					12																	121592733		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121592733G>A	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.271G>A	12.37:g.121592733G>A	ENSP00000442349:p.Ala91Thr	False	False		Somatic	0				P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR	p.A91T	NM_002562.5	NP_002553	WXS	Illumina HiSeq	Phase_I	A8K2Z0	A8K2Z0_HUMAN			2	414	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		91					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.271G>A	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377781	0.61735	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.05649	3.41;3.41	5.49	5.49	0.81192	.	0.297398	0.28883	N	0.013825	T	0.27278	0.0669	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00653	-1.1625	10	0.87932	D	0	.	14.8617	0.70387	0.0:0.0:1.0:0.0	.	91	Q99572	P2RX7_HUMAN	T	91	ENSP00000442349:A91T;ENSP00000366367:A91T	ENSP00000261826:A91T	A	+	1	0	P2RX7	120077116	0.941000	0.31946	0.230000	0.23976	0.265000	0.26407	4.960000	0.63673	2.578000	0.87016	0.591000	0.81541	GCA		0.557	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	0	NM_002562		12:121592733
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000402029.3_5'Flank|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97.0	84.0	88.0					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val	True	False		Somatic	0	OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	p.A48V	NM_017827.3	NP_060297.1	WXS	Illumina HiSeq	Phase_I	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	0	NM_017827		19:39421234
UGT1A7	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						ENST00000373426.3		NA																	0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(721-723)Gca>Aca									202.0	212.0	208.0					2																	234591304		2203	4300	6503	SO:0001583	missense	0							g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr	False	False		Somatic	0				UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	p.A241T	NM_019077.2	NP_061950.2	WXS	Illumina HiSeq	Phase_I				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	721	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	NA					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	0	NM_019077		2:234591304
ZIC2	7546	broad.mit.edu	37	13	100635062	100635062	+	Silent	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:100635062G>C	ENST00000376335.3	+	1	1037	c.744G>C	c.(742-744)cgG>cgC	p.R248R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	248	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTATATGCGGCAGCAGTGCA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3		NA																	0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(742-744)cgG>cgC		Zic family member 2							75.0	79.0	77.0					13																	100635062		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635062G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.744G>C	13.37:g.100635062G>C		False	False		Somatic	0					p.R248R	NM_007129.3	NP_009060.2	WXS	Illumina HiSeq	Phase_I	O95409	ZIC2_HUMAN			1	1037	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		248			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.744G>C	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	0	NM_007129		13:100635062
LCE1A	353131	broad.mit.edu	37	1	152800035	152800035	+	Silent	SNP	C	C	T	rs548821315		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152800035C>T	ENST00000335123.2	+	1	87	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	29	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcctaagtgccccccaaagt	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		11983	0.001		0.0	False		,,,				2504	0.0					ENST00000335123.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(85-87)tgC>tgT		late cornified envelope 1A							60.0	65.0	63.0					1																	152800035		2203	4300	6503	SO:0001819	synonymous_variant	353131				keratinization			g.chr1:152800035C>T		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.87C>T	1.37:g.152800035C>T		True	False		Somatic	0					p.C29C	NM_178348.2	NP_848125.1	WXS	Illumina HiSeq	Phase_I	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	87	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Cys-rich.			Silent	SNP	ENST00000335123.2	37	c.87C>T	CCDS1028.1																																																																																				0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	0	NM_178348		1:152800035
PLIN4	729359	broad.mit.edu	37	19	4511842	4511842	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:4511842G>A	ENST00000301286.3	-	3	2087	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	696	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCTTTGGCGACATTCACTG	0.602																																						ENST00000301286.3		NA																	0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2086-2088)gtC>gtT		perilipin 4							252.0	273.0	266.0					19																	4511842		2157	4252	6409	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4511842G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2088C>T	19.37:g.4511842G>A		False	False		Somatic	0					p.V696V	NM_001080400.1	NP_001073869.1	WXS	Illumina HiSeq	Phase_I	Q96Q06	PLIN4_HUMAN			3	2087	-			696			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.2088C>T	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4511842
ZNF626	199777	broad.mit.edu	37	19	20807353	20807353	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807353T>C	ENST00000601440.1	-	4	1476	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGAATTCTCCTATGTGTAGTA	0.373																																						ENST00000601440.1		NA																	0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1330-1332)Agg>Ggg		zinc finger protein 626							65.0	59.0	61.0					19																	20807353		2108	4259	6367	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807353T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1330A>G	19.37:g.20807353T>C	ENSP00000469958:p.Arg444Gly	False	False		Somatic	0				CTC-513N18.7_ENST00000595094.1_lincRNA	p.R444G	NM_001076675.2	NP_001070143.1	WXS	Illumina HiSeq	Phase_I	Q68DY1	ZN626_HUMAN			4	1476	-			444					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1330A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.713	-0.786488	0.02907	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50718	0.1632	L	0.58101	1.795	0.80722	D	1	B	0.23806	0.091	B	0.33121	0.158	T	0.49447	-0.8939	8	0.87932	D	0	.	3.5311	0.07777	0.0:0.0:0.4169:0.583	.	444	Q68DY1	ZN626_HUMAN	G	444;368;444	.	ENSP00000445201:R444G	R	-	1	2	ZNF626	20599193	0.121000	0.22262	0.006000	0.13384	0.006000	0.05464	0.065000	0.14466	0.148000	0.19059	0.147000	0.16070	AGG		0.373	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	0	NM_145297		19:20807353
HAS1	3036	broad.mit.edu	37	19	52220299	52220299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:52220299G>A	ENST00000222115.1	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000540069.2_Nonsense_Mutation_p.R283*	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	284					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCCAGTATCGCAGGCTGCTT	0.602																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2		NA																	0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(847-849)Cga>Tga		hyaluronan synthase 1							111.0	106.0	108.0					19																	52220299		2203	4300	6503	SO:0001587	stop_gained	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220299G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.850C>T	19.37:g.52220299G>A	ENSP00000222115:p.Arg284*	False	False		Somatic	0				HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.R284*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*	p.R283*			WXS	Illumina HiSeq	Phase_I	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	907	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	284					Q14470|Q9NS49	Nonsense_Mutation	SNP	ENST00000222115.1	37	c.847C>T	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	36	5.695940	0.96802	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	.	.	.	4.08	2.95	0.34219	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9004	9.8479	0.41039	0.0:0.0:0.6878:0.3122	.	.	.	.	X	283;284;141;138	.	ENSP00000222115:R284X	R	-	1	2	HAS1	56912111	0.220000	0.23631	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.014000	0.59158	0.489000	0.48404	CGA		0.602	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	0	NM_001523		19:52220299
MANEAL	149175	broad.mit.edu	37	1	38265867	38265867	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38265867C>T	ENST00000373045.6	+	4	1747	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	456						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCAGTGGCTCATGTGAGG	0.582																																						ENST00000373045.6		NA																	0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(1366-1368)Ctc>Ttc		mannosidase, endo-alpha-like							40.0	43.0	42.0					1																	38265867		2196	4289	6485	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265867C>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1366C>T	1.37:g.38265867C>T	ENSP00000362136:p.Leu456Phe	False	False		Somatic	0				MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	p.L456F	NM_001113482.1	NP_001106954.1	WXS	Illumina HiSeq	Phase_I	Q5VSG8	MANEL_HUMAN			4	1747	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	456					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1366C>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824681	0.71143	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	4.51	0.55191	.	0.063428	0.64402	D	0.000006	T	0.68284	0.2984	M	0.65975	2.015	0.51767	D	0.999932	D;D	0.64830	0.962;0.994	P;P	0.59889	0.528;0.865	T	0.70414	-0.4878	9	0.62326	D	0.03	-8.2914	11.3578	0.49625	0.0:0.8696:0.0:0.1304	.	234;456	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	F	456;262;234	.	ENSP00000328770:L234F	L	+	1	0	MANEAL	38038454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.014000	0.49590	2.662000	0.90505	0.655000	0.94253	CTC		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	0	NM_152496		1:38265867
TMEM131	23505	broad.mit.edu	37	2	98377121	98377121	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:98377121G>T	ENST00000186436.5	-	38	5271	c.5043C>A	c.(5041-5043)aaC>aaA	p.N1681K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1681	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACCTGTTTTGTTTGAAGAAA	0.507																																						ENST00000186436.5		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5041-5043)aaC>aaA		transmembrane protein 131							103.0	106.0	105.0					2																	98377121		1976	4153	6129	SO:0001583	missense	23505					integral to membrane		g.chr2:98377121G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5043C>A	2.37:g.98377121G>T	ENSP00000186436:p.Asn1681Lys	True	False		Somatic	0					p.N1681K	NM_015348.1	NP_056163.1	WXS	Illumina HiSeq	Phase_I	Q92545	TM131_HUMAN			38	5271	-			1681			Ser-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.5043C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992820	0.35131	.	.	ENSG00000075568	ENST00000186436	T	0.30714	1.52	5.39	2.12	0.27331	.	0.600408	0.18546	N	0.138053	T	0.13927	0.0337	N	0.24115	0.695	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.12837	0.001;0.008	T	0.12734	-1.0536	10	0.05721	T	0.95	-8.0245	4.4318	0.11531	0.3871:0.0:0.4636:0.1493	.	1681;61	Q92545;Q0P631	TM131_HUMAN;.	K	1681	ENSP00000186436:N1681K	ENSP00000186436:N1681K	N	-	3	2	TMEM131	97743553	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.997000	0.40786	0.764000	0.33197	0.643000	0.83706	AAC		0.507	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	0	XM_371542		2:98377121
BRAP	8315	broad.mit.edu	37	12	112103575	112103575	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:112103575A>T	ENST00000327551.6	-	6	814	c.674T>A	c.(673-675)gTg>gAg	p.V225E	BRAP_ENST00000539060.1_Missense_Mutation_p.V76E|BRAP_ENST00000419234.4_Missense_Mutation_p.V255E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGGTCCATCACTGGGAGGCT	0.502																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4		NA																	0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(763-765)gTg>gAg		BRCA1 associated protein							116.0	83.0	94.0					12																	112103575		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112103575A>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.674T>A	12.37:g.112103575A>T	ENSP00000330813:p.Val225Glu	False	False		Somatic	0				BRAP_ENST00000539060.1_Missense_Mutation_p.V76E|BRAP_ENST00000327551.6_Missense_Mutation_p.V225E	p.V255E	NM_006768.3	NP_006759.3	WXS	Illumina HiSeq	Phase_I	Q7Z569	BRAP_HUMAN			6	957	-			255					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.764T>A		.	.	.	.	.	.	.	.	.	.	A	15.64	2.892889	0.52121	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.47177	0.85;0.94;0.86	5.22	5.22	0.72569	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.68483	0.954;0.958	T	0.55153	-0.8185	10	0.07325	T	0.83	-17.4067	15.0833	0.72130	1.0:0.0:0.0:0.0	.	76;255	B4DRM1;Q7Z569	.;BRAP_HUMAN	E	255;76;225;37	ENSP00000403524:V255E;ENSP00000441659:V76E;ENSP00000330813:V225E	ENSP00000330813:V225E	V	-	2	0	BRAP	110587958	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	8.773000	0.91762	1.967000	0.57214	0.254000	0.18369	GTG		0.502	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2	0			12:112103575
ZDHHC5	25921	broad.mit.edu	37	11	57456082	57456082	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57456082G>A	ENST00000287169.3	+	4	1691	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	110					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCACCTGCCGCTTTTACCGT	0.522																																						ENST00000287169.3		NA																	0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(328-330)cGc>cAc		zinc finger, DHHC-type containing 5							113.0	93.0	100.0					11																	57456082		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57456082G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.329G>A	11.37:g.57456082G>A	ENSP00000287169:p.Arg110His	False	False		Somatic	0				ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	p.R110H	NM_015457.2	NP_056272.2	WXS	Illumina HiSeq	Phase_I	Q9C0B5	ZDHC5_HUMAN			4	1691	+			110					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.329G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389594	0.25118	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842;ENST00000529447	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.02	4.11	0.48088	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	N	0.01809	-0.71	0.80722	D	1	B	0.26445	0.149	B	0.27076	0.076	T	0.79557	-0.1754	10	0.13470	T	0.59	-5.0695	9.536	0.39222	0.1612:0.0:0.8388:0.0	.	110	Q9C0B5	ZDHC5_HUMAN	H	57;110;8;8;36	ENSP00000432202:R57H;ENSP00000287169:R110H;ENSP00000431209:R8H;ENSP00000435593:R8H;ENSP00000435722:R36H	ENSP00000287169:R110H	R	+	2	0	ZDHHC5	57212658	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	4.362000	0.59467	1.355000	0.45865	0.561000	0.74099	CGC		0.522	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	0	NM_015457		11:57456082
CEP83	51134	broad.mit.edu	37	12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	rs111647062	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		423					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17571	0.0		0.002	False		,,,				2504	0.0					ENST00000397809.5		NA																	0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1291-1293)Cgg>Tgg		coiled-coil domain containing 41		G	TRP/ARG,TRP/ARG	1,3709		0,1,1854	149.0	137.0	141.0		1291,1291	4.9	1.0	12	dbSNP_132	141	2,8212		0,2,4105	yes	missense,missense	CCDC41	NM_001042399.1,NM_016122.2	101,101	0,3,5959	AA,AG,GG		0.0243,0.027,0.0252	probably-damaging,probably-damaging	431/702,431/702	94761622	3,11921	1855	4107	5962	SO:0001583	missense	51134							g.chr12:94761622G>A																												ENST00000397809.5:c.1291C>T	12.37:g.94761622G>A	ENSP00000380911:p.Arg431Trp	True	False		Somatic	0				CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W	p.R431W	NM_016122.2	NP_057206.2	WXS	Illumina HiSeq	Phase_I	Q9Y592	CCD41_HUMAN			11	1840	-			423					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1291C>T	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		0.373	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	0			12:94761622
FAM71C	196472	broad.mit.edu	37	12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483																																						ENST00000324341.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)Gta>Ata		family with sequence similarity 71, member C							77.0	77.0	77.0					12																	100042352		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042352G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.400G>A	12.37:g.100042352G>A	ENSP00000315247:p.Val134Ile	False	False		Somatic	0				ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	p.V134I	NM_153364.3	NP_699195.1	WXS	Illumina HiSeq	Phase_I	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	822	+			134					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.400G>A	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	g	2.826	-0.243640	0.05906	.	.	ENSG00000180219	ENST00000324341	T	0.17370	2.28	3.66	-5.89	0.02282	.	3.911600	0.00754	N	0.001098	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.20605	-1.0270	9	.	.	.	4.9639	1.2332	0.01947	0.1916:0.1478:0.3679:0.2927	.	134	Q8NEG0	FA71C_HUMAN	I	134	ENSP00000315247:V134I	.	V	+	1	0	FAM71C	98566483	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.471000	0.06631	-1.222000	0.02587	-1.327000	0.01280	GTA		0.483	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	0	NM_153364		12:100042352
DLG3	1741	broad.mit.edu	37	X	69672545	69672545	+	Intron	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:69672545G>T	ENST00000374360.3	+	7	1378				DLG3_ENST00000542398.1_5'Flank|DLG3-AS1_ENST00000431103.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374355.3_Missense_Mutation_p.R25M|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Intron	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCGGCCTGGAGGAGGGCTTCG	0.697																																						ENST00000374355.3		NA																	0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(73-75)aGg>aTg		discs, large homolog 3 (Drosophila)							25.0	30.0	28.0					X																	69672545		1949	4121	6070	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69672545G>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1145+669G>T	X.37:g.69672545G>T		False	False		Somatic	0				DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron	p.R25M	NM_020730.2	NP_065781.1	WXS	Illumina HiSeq	Phase_I	Q92796	DLG3_HUMAN			1	391	+	Renal(35;0.156)		0					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.74G>T	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696495	0.48202	.	.	ENSG00000082458	ENST00000374355	T	0.15718	2.4	3.77	2.89	0.33648	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.80722	D	1	B	0.28713	0.22	B	0.17433	0.018	T	0.20505	-1.0273	7	.	.	.	.	5.645	0.17584	0.1517:0.0:0.8483:0.0	.	25	Q5JUW6	.	M	25	ENSP00000363475:R25M	.	R	+	2	0	DLG3	69589270	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.583000	0.53928	1.875000	0.54330	0.416000	0.27883	AGG		0.697	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	0	NM_021120		X:69672545
GPR112	139378	broad.mit.edu	37	X	135487991	135487991	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2932					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2932Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGACTCGGCGGAAGATGATC	0.458																																						ENST00000394143.1		NA																	1	Substitution - Missense(1)	p.R2932Q(1)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8794-8796)cGg>cAg		G protein-coupled receptor 112							150.0	131.0	137.0					X																	135487991		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487991G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8795G>A	X.37:g.135487991G>A	ENSP00000377699:p.Arg2932Gln	False	False		Somatic	0				GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q	p.R2932Q	NM_153834.3	NP_722576.3	WXS	Illumina HiSeq	Phase_I	Q8IZF6	GP112_HUMAN			23	9086	+	Acute lymphoblastic leukemia(192;0.000127)		2932					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8795G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883870	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	-2.74	0.05932	GPCR, family 2-like (1);	.	.	.	.	T	0.28300	0.0699	L	0.39147	1.195	0.09310	N	1	P;B	0.36048	0.534;0.129	B;B	0.33750	0.059;0.169	T	0.13176	-1.0519	9	0.66056	D	0.02	.	13.1032	0.59233	0.6964:0.0:0.3036:0.0	.	2727;2932	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2932;2932;2727;2685;2727	ENSP00000377699:R2932Q;ENSP00000359686:R2932Q;ENSP00000416526:R2727Q;ENSP00000287534:R2685Q;ENSP00000377697:R2727Q	ENSP00000287534:R2685Q	R	+	2	0	GPR112	135315657	0.000000	0.05858	0.001000	0.08648	0.385000	0.30292	-0.544000	0.06077	-0.868000	0.04058	-0.208000	0.12717	CGG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0			X:135487991
ZFHX3	463	broad.mit.edu	37	16	72828136	72828136	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72828136G>T	ENST00000268489.5	-	9	9117	c.8445C>A	c.(8443-8445)agC>agA	p.S2815R	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2815					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACATGGAGGGGCTTTCAAAGT	0.463																																						ENST00000268489.5		NA																	0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8443-8445)agC>agA		zinc finger homeobox 3							120.0	113.0	115.0					16																	72828136		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828136G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8445C>A	16.37:g.72828136G>T	ENSP00000268489:p.Ser2815Arg	True	False		Somatic	0				ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	p.S2815R	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			9	9117	-		Ovarian(137;0.13)	2815					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8445C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551346	0.13374	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74421	-0.84;-0.81	5.96	3.78	0.43462	.	0.000000	0.64402	D	0.000013	T	0.76926	0.4056	L	0.44542	1.39	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.73506	-0.3961	10	0.30854	T	0.27	.	6.6486	0.22949	0.365:0.0:0.635:0.0	.	2815	Q15911	ZFHX3_HUMAN	R	2815;1901	ENSP00000268489:S2815R;ENSP00000438926:S1901R	ENSP00000268489:S2815R	S	-	3	2	ZFHX3	71385637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.411000	0.34702	1.459000	0.47892	0.650000	0.86243	AGC		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72828136
PCDHA9	9752	broad.mit.edu	37	5	140229343	140229343	+	Nonsense_Mutation	SNP	C	C	A	rs150560525		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140229343C>A	ENST00000532602.1	+	1	2296	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.Y421*|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	421	Cadherin 4. {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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGCCTACGAGCTGGTGG	0.642																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3		NA																	0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1261-1263)taC>taA									100.0	93.0	95.0					5																	140229343		2196	4273	6469	SO:0001587	stop_gained	0							g.chr5:140229343C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1263C>A	5.37:g.140229343C>A	ENSP00000436042:p.Tyr421*	False	False		Somatic	0				PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y421*|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.Y421*	NM_014005.3	NP_054724.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1987	+			NA					O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.1263C>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.376177	0.97515	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.6	-1.97	0.07503	.	0.000000	0.29522	U	0.011906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2054	0.43109	0.0:0.5102:0.0:0.4898	.	.	.	.	X	421	.	ENSP00000367362:Y421X	Y	+	3	2	PCDHA9	140209527	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.684000	0.05173	-0.474000	0.06862	-0.752000	0.03492	TAC		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	0	NM_031857		5:140229343
ABHD8	79575	broad.mit.edu	37	19	17412239	17412239	+	Missense_Mutation	SNP	C	C	T	rs374386420		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:17412239C>T	ENST00000247706.3	-	2	426	c.187G>A	c.(187-189)Gca>Aca	p.A63T	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	63							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCGAGGATGCGGATGATGGT	0.667																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(187-189)Gca>Aca		abhydrolase domain containing 8							20.0	25.0	23.0					19																	17412239		2195	4289	6484	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412239C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.187G>A	19.37:g.17412239C>T	ENSP00000247706:p.Ala63Thr	False	False		Somatic	0				MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A63T	NM_024527.4	NP_078803.4	WXS	Illumina HiSeq	Phase_I	Q96I13	ABHD8_HUMAN			2	426	-			63					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.187G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395488	0.01175	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.31769	1.48	1.59	-3.18	0.05186	.	0.496656	0.14259	U	0.330929	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.34782	T	0.22	.	4.2714	0.10789	0.0:0.3731:0.4229:0.204	.	63	Q96I13	ABHD8_HUMAN	T	63;9	ENSP00000247706:A63T	ENSP00000247706:A63T	A	-	1	0	ABHD8	17273239	0.730000	0.28100	0.000000	0.03702	0.023000	0.10783	0.878000	0.28126	-0.771000	0.04608	-0.339000	0.08088	GCA		0.667	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	NM_024527		19:17412239
UNC45B	146862	broad.mit.edu	37	17	33501285	33501285	+	Missense_Mutation	SNP	C	C	T	rs183680447	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:33501285C>T	ENST00000268876.5	+	14	1958	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W|UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	621					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TATAGACATGCGGGTGAAGCG	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		18490	0.0		0.003	False		,,,				2504	0.0					ENST00000268876.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1861-1863)Cgg>Tgg		unc-45 homolog B (C. elegans)							132.0	129.0	130.0					17																	33501285		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501285C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1861C>T	17.37:g.33501285C>T	ENSP00000268876:p.Arg621Trp	True	False		Somatic	0				UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W	p.R621W	NM_173167.2	NP_775259.1	WXS	Illumina HiSeq	Phase_I	Q8IWX7	UN45B_HUMAN			14	1958	+		Ovarian(249;0.17)	621					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1861C>T	CCDS11292.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.11	3.031224	0.54790	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.70045	-0.45;-0.45;-0.45	5.03	2.91	0.33838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.88906	2.99	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.86536	0.1825	10	0.87932	D	0	-28.04	13.2095	0.59817	0.2876:0.7124:0.0:0.0	.	540;619;621	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	621;621;619;540	ENSP00000268876:R621W;ENSP00000412840:R619W;ENSP00000367710:R540W	ENSP00000268876:R621W	R	+	1	2	UNC45B	30525398	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.897000	0.56273	1.316000	0.45131	0.591000	0.81541	CGG		0.547	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	0	NM_173167		17:33501285
RIC1	57589	broad.mit.edu	37	9	5720313	5720313	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:5720313A>G	ENST00000414202.2	+	5	763	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTAGACCTGCAGTCATCTAGA	0.388																																						ENST00000414202.2		NA																	0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(571-573)cAg>cGg		KIAA1432							206.0	203.0	204.0					9																	5720313		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5720313A>G																												ENST00000414202.2:c.572A>G	9.37:g.5720313A>G	ENSP00000416696:p.Gln191Arg	False	False		Somatic	0				KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R	p.Q191R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	WXS	Illumina HiSeq	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	5	763	+		Acute lymphoblastic leukemia(23;0.154)	191						Missense_Mutation	SNP	ENST00000414202.2	37	c.572A>G	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316285	0.60524	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T	0.70282	-0.47;-0.47;-0.47	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.55990	1.75	0.58432	D	0.999999	P;B;P	0.39665	0.682;0.103;0.634	B;B;B	0.36766	0.154;0.034;0.232	T	0.63171	-0.6697	10	0.16896	T	0.51	-13.9966	16.1502	0.81611	1.0:0.0:0.0:0.0	.	112;191;191	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	R	191;191;112;112;112	ENSP00000370943:Q112R;ENSP00000402240:Q112R;ENSP00000398823:Q112R	ENSP00000251879:Q191R	Q	+	2	0	KIAA1432	5710313	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.057000	0.89457	2.203000	0.70933	0.460000	0.39030	CAG		0.388	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	0			9:5720313
APBA2	321	broad.mit.edu	37	15	29397624	29397624	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:29397624G>T	ENST00000558402.1	+	12	2166	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	523	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTTCAGCGTGGCCTACCAGGA	0.612																																						ENST00000558402.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Gcc>Tcc		amyloid beta (A4) precursor protein-binding, family A, member 2							97.0	70.0	79.0					15																	29397624		2201	4300	6501	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29397624G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1567G>T	15.37:g.29397624G>T	ENSP00000453293:p.Ala523Ser	False	False		Somatic	0				APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S	p.A523S			WXS	Illumina HiSeq	Phase_I	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	12	2166	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	523			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1567G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292777	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.22336	1.96	4.32	3.4	0.38934	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.211286	0.40385	N	0.001111	T	0.50017	0.1591	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;D;D	0.91635	0.865;0.993;0.999	T	0.59343	-0.7472	10	0.72032	D	0.01	.	13.037	0.58877	0.0:0.0:0.8378:0.1622	.	511;511;523	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	S	511;523	ENSP00000409312:A511S	ENSP00000219865:A523S	A	+	1	0	APBA2	27184916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.352000	0.97076	1.130000	0.42092	-0.310000	0.09108	GCC		0.612	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	0	NM_005503		15:29397624
LMAN1L	79748	broad.mit.edu	37	15	75109005	75109005	+	Silent	SNP	C	C	T	rs535407762		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:75109005C>T	ENST00000309664.5	+	4	610	c.471C>T	c.(469-471)gaC>gaT	p.D157D	LMAN1L_ENST00000379709.3_Silent_p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	157	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCAGCGACGGGCACATCC	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		15450	0.001		0.0	False		,,,				2504	0.0					ENST00000309664.5		NA																	0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(469-471)gaC>gaT		lectin, mannose-binding, 1 like							66.0	63.0	64.0					15																	75109005		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75109005C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.471C>T	15.37:g.75109005C>T		True	False		Somatic	0				LMAN1L_ENST00000379709.3_Silent_p.D157D	p.D157D	NM_021819.2	NP_068591.2	WXS	Illumina HiSeq	Phase_I	Q9HAT1	LMA1L_HUMAN			4	610	+			157			L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.471C>T	CCDS10270.1																																																																																				0.677	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	0			15:75109005
KIAA0355	9710	broad.mit.edu	37	19	34832943	34832943	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:34832943G>T	ENST00000299505.6	+	10	2977	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	702										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCACCACGGGCACCCCAGGC	0.612																																						ENST00000299505.6		NA																	0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2104-2106)Gca>Tca		KIAA0355							74.0	77.0	76.0					19																	34832943		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832943G>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2104G>T	19.37:g.34832943G>T	ENSP00000299505:p.Ala702Ser	True	False		Somatic	0					p.A702S	NM_014686.3	NP_055501.2	WXS	Illumina HiSeq	Phase_I	O15063	K0355_HUMAN			10	2977	+	Esophageal squamous(110;0.162)		702					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2104G>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742098	0.30865	.	.	ENSG00000166398	ENST00000299505	T	0.20463	2.07	5.21	3.03	0.35002	.	0.227351	0.35262	N	0.003338	T	0.12689	0.0308	N	0.08118	0	0.21416	N	0.999696	B	0.11235	0.004	B	0.16289	0.015	T	0.26189	-1.0110	10	0.87932	D	0	-24.5999	15.1737	0.72894	0.0:0.7283:0.2717:0.0	.	702	O15063	K0355_HUMAN	S	702	ENSP00000299505:A702S	ENSP00000299505:A702S	A	+	1	0	KIAA0355	39524783	0.134000	0.22483	0.405000	0.26409	0.928000	0.56348	0.848000	0.27710	0.697000	0.31718	-0.147000	0.13772	GCA		0.612	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	0	NM_014686		19:34832943
POTEC	388468	broad.mit.edu	37	18	14542996	14542996	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:14542996G>A	ENST00000358970.5	-	1	149	c.150C>T	c.(148-150)gaC>gaT	p.D50D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TAAAGGAGTCGTCGTGGTCTC	0.587																																						ENST00000358970.5		NA																	0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(148-150)gaC>gaT		POTE ankyrin domain family, member C							47.0	51.0	49.0					18																	14542996		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542996G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.150C>T	18.37:g.14542996G>A		False	False		Somatic	0				POTEC_ENST00000389891.4_5'UTR	p.D50D	NM_001137671.1	NP_001131143.1	WXS	Illumina HiSeq	Phase_I	B2RU33	POTEC_HUMAN			1	149	-			50						Silent	SNP	ENST00000358970.5	37	c.150C>T	CCDS45835.1																																																																																				0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	0	XM_496269		18:14542996
MAS1L	116511	broad.mit.edu	37	6	29455344	29455344	+	Silent	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:29455344G>T	ENST00000377127.3	-	1	394	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	112					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCAGGTGGAGGATGTATACCA	0.527																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(334-336)atC>atA		MAS1 oncogene-like							72.0	67.0	69.0					6																	29455344		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455344G>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.336C>A	6.37:g.29455344G>T		False	False		Somatic	0					p.I112I	NM_052967.1	NP_443199.1	WXS	Illumina HiSeq	Phase_I	P35410	MAS1L_HUMAN			1	394	-			112					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.336C>A	CCDS4661.1																																																																																				0.527	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	0	NM_052967		6:29455344
PCDHA10	56139	broad.mit.edu	37	5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000307360.5		NA																	0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(136-138)cGc>cAc									48.0	55.0	53.0					5																	140235770		2196	4269	6465	SO:0001583	missense	0							g.chr5:140235770G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.137G>A	5.37:g.140235770G>A	ENSP00000304234:p.Arg46His	False	False		Somatic	0				PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.R46H	NM_018901.2	NP_061724.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	137	+			NA					A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.137G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373889	0.42105	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27256	1.68;1.68	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27765	0.0683	M	0.69185	2.1	0.21675	N	0.999599	P;P;P	0.52692	0.955;0.848;0.468	B;B;B	0.41332	0.354;0.282;0.097	T	0.27226	-1.0080	9	0.59425	D	0.04	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	46;46;46	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	46	ENSP00000421030:R46H;ENSP00000304234:R46H	ENSP00000304234:R46H	R	+	2	0	PCDHA10	140215954	0.013000	0.17824	1.000000	0.80357	0.890000	0.51754	2.142000	0.42177	2.391000	0.81399	0.556000	0.70494	CGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	0	NM_018901		5:140235770
CLSTN2	64084	broad.mit.edu	37	3	140282022	140282022	+	Missense_Mutation	SNP	G	G	A	rs560530846		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:140282022G>A	ENST00000458420.3	+	15	2649	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	820					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGAGTCCCGGAGTAGCATC	0.512										HNSCC(16;0.037)			G|||	1	0.000199681	0.0	0.0	5008	,	,		21521	0.0		0.0	False		,,,				2504	0.001				GBM(45;858 913 3709 36904 37282)	ENST00000458420.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2458-2460)cGg>cAg		calsyntenin 2							137.0	121.0	126.0					3																	140282022		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282022G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2459G>A	3.37:g.140282022G>A	ENSP00000402460:p.Arg820Gln	True	False	HNSCC(16;0.037)	Somatic	0					p.R820Q	NM_022131.2	NP_071414.2	WXS	Illumina HiSeq	Phase_I	Q9H4D0	CSTN2_HUMAN			15	2649	+			820					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2459G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048756	0.19827	.	.	ENSG00000158258	ENST00000458420	T	0.32515	1.45	5.4	-1.53	0.08611	.	1.541910	0.04448	N	0.372030	T	0.11239	0.0274	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27157	-1.0082	9	.	.	.	-9.2662	9.9589	0.41684	0.5434:0.0:0.4566:0.0	.	820	Q9H4D0	CSTN2_HUMAN	Q	820	ENSP00000402460:R820Q	.	R	+	2	0	CLSTN2	141764712	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	0.351000	0.20096	-0.222000	0.09958	0.655000	0.94253	CGG		0.512	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	0	NM_022131		3:140282022
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism																													ENST00000376149.3		NA																	1	Substitution - Missense(1)	p.A848V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)gCg>gTg		tripartite motif containing 37							125.0	133.0	130.0					17																	57093004		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093004G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val	False	False		Somatic	0				TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V	p.A726V			WXS	Illumina HiSeq	Phase_I	O94972	TRI37_HUMAN			21	2986	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		848					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2177C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	0	NM_015294		17:57093004
KCNB2	9312	broad.mit.edu	37	8	73849840	73849840	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73849840G>A	ENST00000523207.1	+	3	2838	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	750					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTACCCCGCAGCACATCAGTA	0.572																																						ENST00000523207.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2248-2250)caG>caA		potassium voltage-gated channel, Shab-related subfamily, member 2							104.0	111.0	108.0					8																	73849840		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849840G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2250G>A	8.37:g.73849840G>A		False	False		Somatic	0					p.Q750Q	NM_004770.2	NP_004761.2	WXS	Illumina HiSeq	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2838	+	Breast(64;0.137)		750					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2250G>A	CCDS6209.1																																																																																				0.572	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	NM_004770		8:73849840
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1		NA																	0					NA																																														0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1167	+			NA						RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	0	NR_003110		7:65226641
FAM129B	64855	broad.mit.edu	37	9	130271305	130271305	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:130271305C>A	ENST00000373312.3	-	10	1480	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	423					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTGGACACATCAAATCGC	0.622																																						ENST00000373312.3		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1267-1269)Gtg>Ttg		family with sequence similarity 129, member B							110.0	80.0	90.0					9																	130271305		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130271305C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1267G>T	9.37:g.130271305C>A	ENSP00000362409:p.Val423Leu	False	False		Somatic	0				FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L|FAM129B_ENST00000468379.1_Intron	p.V423L	NM_022833.2	NP_073744.2	WXS	Illumina HiSeq	Phase_I	Q96TA1	NIBL1_HUMAN			10	1480	-			423					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1267G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695162	0.68386	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26067	1.76;1.76	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.61218	1.895	0.53688	D	0.999974	D;P;P	0.57899	0.981;0.763;0.763	P;P;P	0.58780	0.845;0.453;0.453	T	0.09707	-1.0662	10	0.25106	T	0.35	-28.7207	16.6857	0.85304	0.0:1.0:0.0:0.0	.	73;410;423	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	L	410;73;423	ENSP00000362411:V410L;ENSP00000362409:V423L	ENSP00000362409:V423L	V	-	1	0	FAM129B	129311126	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	4.604000	0.61112	2.532000	0.85374	0.561000	0.74099	GTG		0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	0	NM_022833		9:130271305
ZNF142	7701	broad.mit.edu	37	2	219507561	219507561	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:219507561G>A	ENST00000449707.1	-	8	4099	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G	ZNF142_ENST00000411696.2_Silent_p.G1226G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGATGCGGCCAATGCCTG	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2		NA																	0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3676-3678)ggC>ggT		zinc finger protein 142							93.0	105.0	101.0					2																	219507561		2139	4234	6373	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507561G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3678C>T	2.37:g.219507561G>A		False	False		Somatic	0				ZNF142_ENST00000449707.1_Silent_p.G1226G	p.G1226G			WXS	Illumina HiSeq	Phase_I	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4457	-		Renal(207;0.0474)	1226					Q92510	Silent	SNP	ENST00000449707.1	37	c.3678C>T	CCDS42817.1																																																																																				0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	0	NM_005081		2:219507561
TRIM51	84767	broad.mit.edu	37	11	55653623	55653623	+	Missense_Mutation	SNP	T	T	C	rs200328622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:55653623T>C	ENST00000449290.2	+	3	528	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	146						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AAAAATGCAGTCTTTATGGGA	0.418													N|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.001	False		,,,				2504	0.0					ENST00000449290.2		NA																	0					NA						c.(436-438)Tct>Cct		tripartite motif-containing 51		T	PRO/SER	2,4400		0,2,2199	55.0	58.0	57.0		436		0.0	11		57	3,8589		0,3,4293	no	missense	SPRYD5	NM_032681.3	74	0,5,6492	CC,CT,TT		0.0349,0.0454,0.0385	benign	146/453	55653623	5,12989	2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653623T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.436T>C	11.37:g.55653623T>C	ENSP00000395086:p.Ser146Pro	False	False		Somatic	0				TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P	p.S146P	NM_032681.3	NP_116070.2	WXS	Illumina HiSeq	Phase_I	Q9BSJ1	SPRY5_HUMAN			3	528	+			146					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.436T>C		.	.	.	.	.	.	.	.	.	.	.	1.685	-0.505613	0.04261	4.54E-4	3.49E-4	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.57595	0.39;0.59	.	.	.	.	.	.	.	.	T	0.59418	0.2192	M	0.85197	2.74	0.09310	N	1	P	0.40398	0.716	P	0.49192	0.602	T	0.53143	-0.8480	7	0.35671	T	0.21	.	.	.	.	.	146	Q9BSJ1	SPRY5_HUMAN	P	146;3	ENSP00000395086:S146P;ENSP00000244891:S3P	ENSP00000244891:S3P	S	+	1	0	SPRYD5	55410199	0.001000	0.12720	0.028000	0.17463	0.144000	0.21451	-0.552000	0.06020	-0.745000	0.04772	0.128000	0.15822	TCT		0.418	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	0	NM_032681		11:55653623
MS4A1	931	broad.mit.edu	37	11	60235931	60235931	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:60235931G>T	ENST00000534668.1	+	7	1173	c.884G>T	c.(883-885)aGc>aTc	p.S295I	MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I|MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I|MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	295					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GAAAATGACAGCTCTCCTTAA	0.373																																						ENST00000534668.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(883-885)aGc>aTc		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						106.0	102.0	103.0					11																	60235931		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235931G>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.884G>T	11.37:g.60235931G>T	ENSP00000433277:p.Ser295Ile	False	False		Somatic	0				MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I|MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I|MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I	p.S295I	NM_152866.2	NP_690605.1	WXS	Illumina HiSeq	Phase_I	P11836	CD20_HUMAN			7	1173	+			295					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.884G>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760565	0.31137	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.24908	2.39;1.83;2.39;2.39	4.53	-0.0963	0.13637	.	2.922300	0.01270	N	0.009432	T	0.17534	0.0421	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.19811	-1.0294	10	0.42905	T	0.14	-16.9912	5.1731	0.15120	0.1106:0.0:0.3805:0.509	.	128;282;295	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	295;282;295;128;295	ENSP00000314620:S295I;ENSP00000433519:S282I;ENSP00000433277:S295I;ENSP00000374589:S295I	ENSP00000314620:S295I	S	+	2	0	MS4A1	59992507	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	0.059000	0.14322	-0.099000	0.12263	-0.182000	0.12963	AGC		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	0			11:60235931
COL22A1	169044	broad.mit.edu	37	8	139838972	139838972	+	Missense_Mutation	SNP	G	G	A	rs138591562		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:139838972G>A	ENST00000303045.6	-	6	1344	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	300	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCTGAACCGGAAGGTTGTG	0.517										HNSCC(7;0.00092)																												ENST00000303045.6		NA																	0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(898-900)Cgg>Tgg		collagen, type XXII, alpha 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	104.0	111.0		898	5.2	1.0	8	dbSNP_134	111	0,8600		0,0,4300	yes	missense	COL22A1	NM_152888.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	300/1627	139838972	1,13005	2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139838972G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.898C>T	8.37:g.139838972G>A	ENSP00000303153:p.Arg300Trp	False	False	HNSCC(7;0.00092)	Somatic	0				COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	p.R300W	NM_152888.1	NP_690848.1	WXS	Illumina HiSeq	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		6	1344	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		300			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.898C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404229	0.83230	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.21734	1.99;1.99	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.167535	0.27881	N	0.017469	T	0.46718	0.1407	M	0.83774	2.66	0.39206	D	0.963233	D	0.89917	1.0	D	0.69654	0.965	T	0.52358	-0.8586	9	.	.	.	.	11.6388	0.51220	0.0:0.0:0.7166:0.2834	.	300	Q8NFW1	COMA1_HUMAN	W	300	ENSP00000303153:R300W;ENSP00000387655:R300W	.	R	-	1	2	COL22A1	139908154	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.826000	0.75298	2.452000	0.82932	0.644000	0.83932	CGG		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	XM_291257		8:139838972
MRC1	4360	broad.mit.edu	37	10	17949700	17949700	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:17949700G>C	ENST00000331429.2	+	28	4167	c.4064G>C	c.(4063-4065)tGt>tCt	p.C1355S																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATATATTTGTAAAAGACCA	0.373																																						ENST00000331429.2		NA																	0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(4063-4065)tGt>tCt									168.0	180.0	176.0					10																	17949700		2183	4286	6469	SO:0001583	missense	0							g.chr10:17949700G>C																												ENST00000331429.2:c.4064G>C	10.37:g.17949700G>C	ENSP00000332124:p.Cys1355Ser	True	False		Somatic	0					p.C1355S			WXS	Illumina HiSeq	Phase_I					28	4167	+			NA						Missense_Mutation	SNP	ENST00000331429.2	37	c.4064G>C		.	.	.	.	.	.	.	.	.	.	.	18.38	3.612124	0.66672	.	.	ENSG00000183748	ENST00000331429	D	0.97688	-4.49	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000012	D	0.98654	0.9549	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99797	1.1034	8	0.87932	D	0	-10.5846	16.4284	0.83832	0.0:0.0:1.0:0.0	.	1355	B9EJA8	.	S	1355	ENSP00000332124:C1355S	ENSP00000332124:C1355S	C	+	2	0	AL928580.1	17989706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGT		0.373	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1	0			10:17949700
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	rs201645923		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423																																						ENST00000309235.5		NA																	1	Substitution - Missense(1)	p.R349H(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1045-1047)cGc>cAc		zinc finger protein 483							80.0	91.0	87.0					9																	114304261		2203	4299	6502	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304261G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His	False	False		Somatic	0				ZNF483_ENST00000358151.4_Intron	p.R349H	NM_133464.2	NP_597721.2	WXS	Illumina HiSeq	Phase_I	Q8TF39	ZN483_HUMAN			6	1204	+			349					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1046G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	0	XM_088567		9:114304261
ZFHX3	463	broad.mit.edu	37	16	72992317	72992317	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72992317G>A	ENST00000268489.5	-	2	2400	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	576					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCCCTGACGCCCTCACTGT	0.502																																						ENST00000268489.5		NA																	0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1726-1728)ggC>ggT		zinc finger homeobox 3							100.0	95.0	96.0					16																	72992317		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992317G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1728C>T	16.37:g.72992317G>A		True	False		Somatic	0				ZFHX3_ENST00000397992.5_Intron	p.G576G	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	2400	-		Ovarian(137;0.13)	576					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1728C>T	CCDS10908.1																																																																																				0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72992317
MIR508	574513	broad.mit.edu	37	X	146318508	146318508	+	RNA	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:146318508G>A	ENST00000384857.1	-	0	37					NR_030235.1				microRNA 508																		CATGAGTGACGCCCTCTGGAG	0.428																																						ENST00000384857.1		NA																	0					NA															80.0	62.0	68.0					X																	146318508		1568	3582	5150			0							g.chrX:146318508G>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000207589	ENSG00000207589		"""ncRNAs / Micro RNAs"""	32145	non-coding RNA	RNA, micro		300874		MIRN508			Standard	NR_030235		Approved	hsa-mir-508	uc022cfw.1				X.37:g.146318508G>A		True	False		Somatic	0						NR_030235.1		WXS	Illumina HiSeq	Phase_I					0	37	-			NA						RNA	SNP	ENST00000384857.1	37																																																																																						0.428	MIR508-201	KNOWN	basic	miRNA	miRNA		0	NR_030235		X:146318508
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T	rs371311461		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602																																						ENST00000389158.5		NA																	0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(16-18)gGc>gAc		NOP16 nucleolar protein		C	ASP/GLY	0,4344		0,0,2172	60.0	67.0	65.0		17	5.6	1.0	5		65	1,8577		0,1,4288	no	missense	NOP16	NM_016391.4	94	0,1,6460	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	6/179	175815524	1,12921	2172	4289	6461	SO:0001583	missense	51491					nucleolus		g.chr5:175815524C>T		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.17G>A	5.37:g.175815524C>T	ENSP00000373810:p.Gly6Asp	True	False		Somatic	0				NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D	p.G6D			WXS	Illumina HiSeq	Phase_I	Q9Y3C1	NOP16_HUMAN			1	452	-			6					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.17G>A	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532671	0.85812	0.0	1.17E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.67050	0.2852	L	0.47716	1.5	0.40902	D	0.984165	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.988;0.999;0.999	T	0.61579	-0.7034	8	0.25751	T	0.34	.	12.1692	0.54148	0.0:0.9225:0.0:0.0775	.	6;6;6;6	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	D	6	.	ENSP00000373810:G6D	G	-	2	0	NOP16	175748130	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.518000	0.45537	2.894000	0.99253	0.655000	0.94253	GGC		0.602	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	0	NM_016391		5:175815524
AGPAT1	10554	broad.mit.edu	37	6	32139088	32139088	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:32139088G>A	ENST00000395499.1	-	2	765	c.186C>T	c.(184-186)aaC>aaT	p.N62N	AGPAT1_ENST00000375107.3_Silent_p.N62N|AGPAT1_ENST00000375104.2_Silent_p.N62N|AGPAT1_ENST00000395496.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000395497.1_Silent_p.N62N|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000412465.2_De_novo_Start_InFrame|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	62					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGTTCTCGACGTTGCGTCCTC	0.562																																						ENST00000412465.2		NA																	0				central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12								1-acylglycerol-3-phosphate O-acyltransferase 1							188.0	161.0	171.0					6																	32139088		1511	2708	4219	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32139088G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.186C>T	6.37:g.32139088G>A		False	False		Somatic	0				AGPAT1_ENST00000375107.3_Silent_p.N62N|AGPAT1_ENST00000395496.1_Silent_p.N62N|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000395499.1_Silent_p.N62N|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Silent_p.N62N				WXS	Illumina HiSeq	Phase_I	Q99943	PLCA_HUMAN			0	440	-			NA					A2BFI5|Q5BL03	Translation_Start_Site	SNP	ENST00000395499.1	37		CCDS4744.1																																																																																				0.562	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	0	NM_006411		6:32139088
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	rs200217894		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.0	False		,,,				2504	0.001					ENST00000335749.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1684-1686)Gca>Aca		trinucleotide repeat containing 6C		G	THR/ALA,THR/ALA	0,4056		0,0,2028	53.0	59.0	57.0		1684,1684	3.8	0.6	17		57	1,8375		0,1,4187	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6215	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	562/1727,562/1691	76046827	1,12431	2028	4188	6216	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046827G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1684G>A	17.37:g.76046827G>A	ENSP00000468647:p.Ala562Thr	False	False		Somatic	0				TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T	p.A562T	NM_001142640.1	NP_001136112.1	WXS	Illumina HiSeq	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2253	+			562			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1684G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	NM_018996		17:76046827
ATRNL1	26033	broad.mit.edu	37	10	117061456	117061456	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:117061456G>C	ENST00000355044.3	+	17	2847	c.2721G>C	c.(2719-2721)atG>atC	p.M907I	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	907	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGAGTGTATGTGGTGCAGCA	0.453																																						ENST00000355044.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2719-2721)atG>atC		attractin-like 1							283.0	203.0	230.0					10																	117061456		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061456G>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2721G>C	10.37:g.117061456G>C	ENSP00000347152:p.Met907Ile	False	False		Somatic	0				ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	p.M907I	NM_207303.2	NP_997186.1	WXS	Illumina HiSeq	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2847	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	907			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2721G>C	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789583|3.789583	0.70337|0.70337	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.21932|.	2.34;1.98|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	P;D|.	0.54964|.	0.936;0.969|.	P;D|.	0.70227|.	0.885;0.968|.	T|T	0.63413|0.63413	-0.6643|-0.6643	10|5	0.30854|.	T|.	0.27|.	-11.4902|-11.4902	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;907|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	I|L	907;4|37	ENSP00000347152:M907I;ENSP00000409624:M4I|.	ENSP00000347152:M907I|.	M|V	+|+	3|1	0|0	ATRNL1|ATRNL1	117051446|117051446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	ATG|GTG		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	XM_049349		10:117061456
PBXIP1	57326	broad.mit.edu	37	1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627																																						ENST00000368463.3		NA																	0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1831-1833)Cgg>Tgg		pre-B-cell leukemia homeobox interacting protein 1							54.0	54.0	54.0					1																	154918319		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918319G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1831C>T	1.37:g.154918319G>A	ENSP00000357448:p.Arg611Trp	False	False		Somatic	0				PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W	p.R611W	NM_020524.2	NP_065385.2	WXS	Illumina HiSeq	Phase_I	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1902	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		611					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1831C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303611	0.60305	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.32;2.34;2.38;2.36	4.72	3.79	0.43588	.	0.612341	0.15264	N	0.271642	T	0.23289	0.0563	M	0.62723	1.935	0.30294	N	0.790065	D	0.89917	1.0	D	0.66196	0.942	T	0.03121	-1.1070	10	0.87932	D	0	-17.2576	11.8382	0.52338	0.0:0.0:0.8238:0.1762	.	611	Q96AQ6	PBIP1_HUMAN	W	582;611;438;387;456	ENSP00000357450:R582W;ENSP00000357448:R611W;ENSP00000440142:R438W;ENSP00000438584:R456W	ENSP00000357448:R611W	R	-	1	2	PBXIP1	153184943	0.564000	0.26602	0.999000	0.59377	0.959000	0.62525	1.282000	0.33226	1.157000	0.42530	0.462000	0.41574	CGG		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	NM_020524		1:154918319
LNX2	222484	broad.mit.edu	37	13	28136823	28136823	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:28136823C>G	ENST00000316334.3	-	5	1080	c.951G>C	c.(949-951)gaG>gaC	p.E317D		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	317	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAAAGCGCCTCTCTCGAAGCA	0.488																																						ENST00000316334.3		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(949-951)gaG>gaC		ligand of numb-protein X 2							124.0	118.0	120.0					13																	28136823		2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28136823C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.951G>C	13.37:g.28136823C>G	ENSP00000325929:p.Glu317Asp	True	False		Somatic	0					p.E317D	NM_153371.3	NP_699202.1	WXS	Illumina HiSeq	Phase_I	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1080	-		Lung SC(185;0.0156)	317			PDZ 1.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.951G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922741	0.92319	.	.	ENSG00000139517	ENST00000316334	T	0.27890	1.64	5.88	5.04	0.67666	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.16070	-1.0415	10	0.32370	T	0.25	.	14.8997	0.70670	0.0:0.9315:0.0:0.0685	.	317	Q8N448	LNX2_HUMAN	D	317	ENSP00000325929:E317D	ENSP00000325929:E317D	E	-	3	2	LNX2	27034823	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	3.788000	0.55446	1.480000	0.48289	0.655000	0.94253	GAG		0.488	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2	0			13:28136823
ADAMTSL4	54507	broad.mit.edu	37	1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T	rs375355414		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:150528719C>T	ENST00000369038.2	+	7	1654	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	485					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTACCTGTCGCCTTGTTTC	0.612																																						ENST00000271643.4		NA																	0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1453-1455)Cgc>Tgc		ADAMTS-like 4		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	96.0	97.0		1453,1453	4.7	0.9	1		97	0,8600		0,0,4300	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	485/1075,485/878	150528719	1,13005	2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150528719C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1453C>T	1.37:g.150528719C>T	ENSP00000358034:p.Arg485Cys	False	False		Somatic	0				RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C	p.R485C	NM_019032.4	NP_061905.2	WXS	Illumina HiSeq	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1689	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		485					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1453C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599584	0.66332	2.27E-4	0.0	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.72	4.72	0.59763	.	.	.	.	.	T	0.71626	0.3362	M	0.71871	2.18	0.44570	D	0.997533	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;P;P;P	0.63113	0.911;0.901;0.88;0.809	T	0.75736	-0.3213	9	0.87932	D	0	.	10.2988	0.43639	0.1967:0.8033:0.0:0.0	.	508;508;485;485	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	485;485;508;485	ENSP00000358037:R485C;ENSP00000271643:R485C;ENSP00000358035:R508C;ENSP00000358034:R485C	ENSP00000271643:R485C	R	+	1	0	ADAMTSL4	148795343	0.400000	0.25295	0.898000	0.35279	0.996000	0.88848	2.063000	0.41423	2.449000	0.82847	0.462000	0.41574	CGC		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	NM_019032		1:150528719
PPEF2	5470	broad.mit.edu	37	4	76811270	76811270	+	Missense_Mutation	SNP	C	C	T	rs112682717	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:76811270C>T	ENST00000286719.7	-	5	613	c.257G>A	c.(256-258)cGc>cAc	p.R86H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	86					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.R86H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATATGCGGGTCAGGAA	0.507													C|||	5	0.000998403	0.003	0.0	5008	,	,		20030	0.0		0.0	False		,,,				2504	0.001				NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7		NA																	1	Substitution - Missense(1)	p.R86H(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(256-258)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	154.0	142.0	146.0		257	3.3	1.0	4	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PPEF2	NM_006239.2	29	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	benign	86/754	76811270	11,12995	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811270C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.257G>A	4.37:g.76811270C>T	ENSP00000286719:p.Arg86His	True	False		Somatic	0					p.R86H	NM_006239.2	NP_006230.2	WXS	Illumina HiSeq	Phase_I	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	613	-			86					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.257G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190443	0.09547	0.00227	1.16E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54866	0.55	5.07	3.33	0.38152	.	1.404560	0.04188	N	0.327755	T	0.42404	0.1201	L	0.27053	0.805	0.35716	D	0.816798	B;B	0.17465	0.02;0.022	B;B	0.15052	0.009;0.012	T	0.12941	-1.0528	10	0.23302	T	0.38	-0.3045	9.4751	0.38867	0.0:0.8244:0.0:0.1756	.	86;86	O14830-2;O14830	.;PPE2_HUMAN	H	86	ENSP00000286719:R86H	ENSP00000286719:R86H	R	-	2	0	PPEF2	77030294	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	2.004000	0.40854	0.540000	0.28808	0.313000	0.20887	CGC		0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	0	NM_006239		4:76811270
FOXJ1	2302	broad.mit.edu	37	17	74136135	74136135	+	Silent	SNP	G	G	A	rs200854622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:74136135G>A	ENST00000322957.6	-	2	696	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	114					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GATTGGTGGCGTAGTCCACGT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10843	0.001		0.0	False		,,,				2504	0.0					ENST00000322957.6		NA																	0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(340-342)taC>taT		forkhead box J1							61.0	47.0	52.0					17																	74136135		2203	4300	6503	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136135G>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.342C>T	17.37:g.74136135G>A		False	False		Somatic	0					p.Y114Y	NM_001454.3	NP_001445.2	WXS	Illumina HiSeq	Phase_I	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	696	-			114					O00630	Silent	SNP	ENST00000322957.6	37	c.342C>T	CCDS32739.1																																																																																				0.692	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	0	NM_001454		17:74136135
SDHA	6389	broad.mit.edu	37	5	236660	236660	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:236660C>T	ENST00000264932.6	+	10	1493	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	SDHA_ENST00000510361.1_Silent_p.L412L|SDHA_ENST00000504309.1_Silent_p.L460L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	460					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCTCTTGGACCTGGTTGTCTT	0.597									Familial Paragangliomas																													ENST00000264932.6		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1378-1380)Ctg>Ttg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						91.0	82.0	85.0					5																	236660		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236660C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1378C>T	5.37:g.236660C>T		False	False		Somatic	0				SDHA_ENST00000504309.1_Silent_p.L460L|SDHA_ENST00000510361.1_Silent_p.L412L	p.L460L	NM_004168.2	NP_004159.2	WXS	Illumina HiSeq	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1493	+			460					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1378C>T	CCDS3853.1																																																																																				0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	0	NM_004168		5:236660
TNS1	7145	broad.mit.edu	37	2	218683151	218683151	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:218683151G>A	ENST00000171887.4	-	24	4044	c.3592C>T	c.(3592-3594)Cgg>Tgg	p.R1198W	TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W|TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1198					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGATGGCCCGCCAGCCGAAG	0.632																																						ENST00000171887.4		NA																	0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3592-3594)Cgg>Tgg		tensin 1							52.0	56.0	54.0					2																	218683151		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683151G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3592C>T	2.37:g.218683151G>A	ENSP00000171887:p.Arg1198Trp	True	False		Somatic	0				TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W|TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W	p.R1198W	NM_022648.4	NP_072174.3	WXS	Illumina HiSeq	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4044	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1198					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3592C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344661	0.61073	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92965	-3.14;1.75;-3.13;-3.13	4.61	4.61	0.57282	.	0.275476	0.28784	N	0.014151	D	0.93569	0.7947	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.994	D	0.93425	0.6780	10	0.72032	D	0.01	.	10.717	0.46019	0.0:0.0:0.6693:0.3307	.	1198;1177;1185	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	W	1198;336;1185;1177	ENSP00000171887:R1198W;ENSP00000394171:R336W;ENSP00000408724:R1185W;ENSP00000406016:R1177W	ENSP00000171887:R1198W	R	-	1	2	TNS1	218391396	0.758000	0.28405	0.999000	0.59377	0.780000	0.44128	0.682000	0.25335	2.403000	0.81681	0.563000	0.77884	CGG		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	0	NM_022648		2:218683151
ALG1L2	644974	broad.mit.edu	37	3	129817028	129817028	+	RNA	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:129817028G>C	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										ACCTGGGATGGGGTGGGGACA	0.542																																						ENST00000507643.1		NA																	0					NA																																														0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817028G>C	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817028G>C		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	C9J202	AG1L2_HUMAN			0	647	+			NA						RNA	SNP	ENST00000507643.1	37																																																																																						0.542	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	0	NM_001136152		3:129817028
TTN	7273	broad.mit.edu	37	2	179425623	179425623	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179425623A>C	ENST00000591111.1	-	276	80537	c.80313T>G	c.(80311-80313)caT>caG	p.H26771Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H28412Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26771	Ig-like 128.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAAAGTATGATTGTCTG	0.433																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85234-85236)caT>caG		titin							147.0	125.0	132.0					2																	179425623		1924	4139	6063	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425623A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80313T>G	2.37:g.179425623A>C	ENSP00000465570:p.His26771Gln	False	False		Somatic	0				TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.H28412Q	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85460	-			26771			Fibronectin type-III 107.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85236T>G		.	.	.	.	.	.	.	.	.	.	A	3.073	-0.190763	0.06299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.97	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49795	0.1578	L	0.41961	1.31	0.09310	N	0.999996	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.17979	0.011;0.011;0.02;0.02	T	0.49360	-0.8948	9	0.87932	D	0	.	6.1603	0.20360	0.543:0.0:0.3354:0.1216	.	19347;19472;19539;26771	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25844;19347;19539;19472;19345	ENSP00000343764:H25844Q;ENSP00000434586:H19347Q;ENSP00000340554:H19539Q;ENSP00000352154:H19472Q	ENSP00000340554:H19539Q	H	-	3	2	TTN	179133869	0.000000	0.05858	0.039000	0.18376	0.227000	0.25037	-0.205000	0.09411	0.170000	0.19704	0.533000	0.62120	CAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179425623
OBSCN	84033	broad.mit.edu	37	1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A	rs374049885		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:228480445G>A	ENST00000422127.1	+	40	10869	c.10825G>A	c.(10825-10827)Gtg>Atg	p.V3609M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V4038M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3609	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577																																						ENST00000570156.2		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12112-12114)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	MET/VAL,MET/VAL	1,4289		0,1,2144	120.0	122.0	121.0		10825,10825	1.5	0.0	1		121	1,8483		0,1,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6385	AA,AG,GG		0.0118,0.0233,0.0157	benign,benign	3609/7969,3609/6621	228480445	2,12772	2145	4242	6387	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228480445G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10825G>A	1.37:g.228480445G>A	ENSP00000409493:p.Val3609Met	True	False		Somatic	0				OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3609M	p.V4038M	NM_001271223.2	NP_001258152.2	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			45	12186	+		Prostate(94;0.0405)	3079			Ig-like 41.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12112G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228480445
ADAMTS7	11173	broad.mit.edu	37	15	79051843	79051843	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:79051843G>A	ENST00000388820.4	-	24	5191	c.4981C>T	c.(4981-4983)Cgc>Tgc	p.R1661C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1661	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACTGGGTGCGGATGGTGGGC	0.726																																						ENST00000388820.4		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4981-4983)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9.0	11.0	10.0					15																	79051843		2109	4183	6292	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051843G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4981C>T	15.37:g.79051843G>A	ENSP00000373472:p.Arg1661Cys	False	False		Somatic	0					p.R1661C	NM_014272.3	NP_055087.2	WXS	Illumina HiSeq	Phase_I	Q9UKP4	ATS7_HUMAN			24	5191	-			1661			PLAC.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4981C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.107509	0.37145	.	.	ENSG00000136378	ENST00000388820	T	0.62105	0.05	2.92	1.86	0.25419	PLAC (1);	0.082330	0.49305	U	0.000156	T	0.74898	0.3777	M	0.75264	2.295	0.46678	D	0.99915	D	0.89917	1.0	D	0.83275	0.996	T	0.77661	-0.2504	10	0.87932	D	0	.	10.268	0.43466	0.0:0.0:0.8027:0.1973	.	1661	Q9UKP4	ATS7_HUMAN	C	1661	ENSP00000373472:R1661C	ENSP00000373472:R1661C	R	-	1	0	ADAMTS7	76838898	0.960000	0.32886	0.217000	0.23759	0.006000	0.05464	3.130000	0.50508	1.639000	0.50556	0.282000	0.19409	CGC		0.726	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	0	NM_014272		15:79051843
STAG2	10735	broad.mit.edu	37	X	123181288	123181288	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:123181288A>C	ENST00000371160.1	+	9	1042	c.752A>C	c.(751-753)gAa>gCa	p.E251A	STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	251					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGAAGCAGAACGGAATAAA	0.338																																						ENST00000371160.1		NA																	0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(751-753)gAa>gCa		stromal antigen 2							86.0	84.0	85.0					X																	123181288		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123181288A>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.752A>C	X.37:g.123181288A>C	ENSP00000360202:p.Glu251Ala	False	False		Somatic	0				STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000354548.5_Missense_Mutation_p.E182A	p.E251A	NM_001282418.1	NP_001269347.1	WXS	Illumina HiSeq	Phase_I	Q8N3U4	STAG2_HUMAN			9	1042	+			251					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.752A>C	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756245	0.89843	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.58	5.58	0.84498	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.983	D	0.84849	0.0812	10	0.52906	T	0.07	-8.161	14.6793	0.69004	1.0:0.0:0.0:0.0	.	251;251	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	251;251;182;251;251;251;251	ENSP00000218089:E251A;ENSP00000397265:E251A;ENSP00000346555:E182A;ENSP00000360202:E251A;ENSP00000360199:E251A;ENSP00000360187:E251A;ENSP00000360186:E251A	ENSP00000218089:E251A	E	+	2	0	STAG2	123008969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.335000	0.96500	1.847000	0.53656	0.486000	0.48141	GAA		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	0	NM_006603		X:123181288
ARHGAP31	57514	broad.mit.edu	37	3	119132851	119132851	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:119132851C>T	ENST00000264245.4	+	12	2607	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	692	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCTGGGGCCCTTTATTCCC	0.562																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2074-2076)cCc>cTc		Rho GTPase activating protein 31							127.0	129.0	128.0					3																	119132851		1949	4146	6095	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119132851C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2075C>T	3.37:g.119132851C>T	ENSP00000264245:p.Pro692Leu	True	False		Somatic	0					p.P692L	NM_020754.2	NP_065805.2	WXS	Illumina HiSeq	Phase_I	Q2M1Z3	RHG31_HUMAN			12	2607	+			692			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2075C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896949	0.33535	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06142	3.34	4.89	4.01	0.46588	.	0.998160	0.08112	N	0.996113	T	0.06325	0.0163	L	0.32530	0.975	0.09310	N	0.999999	B	0.27229	0.172	B	0.22386	0.039	T	0.34750	-0.9816	10	0.48119	T	0.1	.	7.3783	0.26841	0.1709:0.7374:0.0:0.0917	.	692	Q2M1Z3	RHG31_HUMAN	L	692	ENSP00000264245:P692L	ENSP00000264245:P692L	P	+	2	0	ARHGAP31	120615541	0.000000	0.05858	0.016000	0.15963	0.012000	0.07955	1.015000	0.29963	1.284000	0.44531	-0.169000	0.13324	CCC		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0			3:119132851
SASH1	23328	broad.mit.edu	37	6	148855953	148855953	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:148855953G>A	ENST00000367467.3	+	16	2486	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	671	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTGGAGGAGGAAGACTTGGA	0.478																																						ENST00000367467.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2011-2013)Gaa>Aaa		SAM and SH3 domain containing 1							135.0	127.0	130.0					6																	148855953		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855953G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2011G>A	6.37:g.148855953G>A	ENSP00000356437:p.Glu671Lys	True	False		Somatic	0					p.E671K	NM_015278.3	NP_056093.3	WXS	Illumina HiSeq	Phase_I	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	16	2486	+		Ovarian(120;0.0169)	671			SAM 1.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2011G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473339	0.96274	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.54675	0.56	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.55103	1.725	0.58432	D	0.999999	D;D	0.67145	0.989;0.996	D;D	0.67382	0.951;0.951	T	0.63897	-0.6533	10	0.54805	T	0.06	-30.787	18.4822	0.90817	0.0:0.0:1.0:0.0	.	652;671	Q6P4R9;O94885	.;SASH1_HUMAN	K	671;432;81	ENSP00000356437:E671K	ENSP00000356437:E671K	E	+	1	0	SASH1	148897646	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.364000	0.80123	0.561000	0.74099	GAA		0.478	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	0	NM_015278		6:148855953
KIAA0556	23247	broad.mit.edu	37	16	27751992	27751992	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:27751992G>A	ENST00000261588.4	+	15	2393	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	792						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATCAGACGATGTCATCGG	0.632																																						ENST00000261588.4		NA																	0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2374-2376)Gat>Aat		KIAA0556							63.0	65.0	64.0					16																	27751992		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751992G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2374G>A	16.37:g.27751992G>A	ENSP00000261588:p.Asp792Asn	False	False		Somatic	0					p.D792N	NM_015202.2	NP_056017.2	WXS	Illumina HiSeq	Phase_I	O60303	K0556_HUMAN			15	2393	+			792					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2374G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939489	0.18281	.	.	ENSG00000047578	ENST00000261588	T	0.09630	2.96	4.74	-0.748	0.11087	.	0.797485	0.11737	N	0.534391	T	0.09512	0.0234	L	0.60455	1.87	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.33085	-0.9882	10	0.33141	T	0.24	-13.2319	4.3005	0.10922	0.332:0.0:0.5208:0.1471	.	792	O60303	K0556_HUMAN	N	792	ENSP00000261588:D792N	ENSP00000261588:D792N	D	+	1	0	KIAA0556	27659493	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.252000	0.08806	-0.293000	0.08986	-1.169000	0.01745	GAT		0.632	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	NM_015202		16:27751992
NR1H3	10062	broad.mit.edu	37	11	47281348	47281348	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:47281348C>T	ENST00000467728.1	+	2	1288	c.50C>T	c.(49-51)gCg>gTg	p.A17V	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	17					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCAGACTCTGCGGTGGAGCTG	0.632											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(49-51)gCg>gTg		nuclear receptor subfamily 1, group H, member 3							37.0	37.0	37.0					11																	47281348		2201	4297	6498	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281348C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.50C>T	11.37:g.47281348C>T	ENSP00000420656:p.Ala17Val	False	False		Somatic	0	OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000405576.1_5'UTR	p.A17V			WXS	Illumina HiSeq	Phase_I	Q13133	NR1H3_HUMAN			2	1288	+			17					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.50C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090832	0.08632	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.66	1.22	0.21188	.	0.815641	0.10624	N	0.652953	T	0.25005	0.0607	N	0.14661	0.345	0.28499	N	0.914104	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.21759	-1.0236	10	0.30078	T	0.28	.	9.8669	0.41150	0.0:0.8063:0.0:0.1937	.	23;17;17	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	V	17	ENSP00000403798:A17V;ENSP00000385801:A17V;ENSP00000391005:A17V;ENSP00000413095:A17V;ENSP00000415591:A17V;ENSP00000387946:A17V;ENSP00000396132:A17V;ENSP00000403696:A17V;ENSP00000420656:A17V;ENSP00000384745:A17V	ENSP00000384745:A17V	A	+	2	0	NR1H3	47237924	0.723000	0.28027	0.131000	0.22000	0.025000	0.11179	1.163000	0.31798	0.341000	0.23771	0.462000	0.41574	GCG		0.632	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	0			11:47281348
HSPB9	94086	broad.mit.edu	37	17	40275109	40275109	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:40275109G>A	ENST00000355067.3	+	1	354	c.241G>A	c.(241-243)Gga>Aga	p.G81R	KAT2A_ENST00000225916.5_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	81					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GATGGTGACCGGACAGCAGCA	0.597																																						ENST00000355067.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4						c.(241-243)Gga>Aga		heat shock protein, alpha-crystallin-related, B9							116.0	103.0	107.0					17																	40275109		2203	4300	6503	SO:0001583	missense	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275109G>A	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.241G>A	17.37:g.40275109G>A	ENSP00000347178:p.Gly81Arg	False	False		Somatic	0				CTD-2132N18.3_ENST00000592574.1_Intron	p.G81R	NM_033194.2	NP_149971.1	WXS	Illumina HiSeq	Phase_I	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	354	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	81					B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	37	c.241G>A	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174878	0.57692	.	.	ENSG00000197723	ENST00000355067	D	0.95622	-3.76	3.68	-0.645	0.11475	Heat shock protein Hsp20 (2);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.84511	2.7	0.31280	N	0.690707	P	0.43352	0.804	B	0.37144	0.242	D	0.89203	0.3559	10	0.87932	D	0	-18.9973	4.7991	0.13287	0.2826:0.1571:0.5603:0.0	.	81	Q9BQS6	HSPB9_HUMAN	R	81	ENSP00000347178:G81R	ENSP00000347178:G81R	G	+	1	0	HSPB9	37528635	0.976000	0.34144	0.716000	0.30569	0.009000	0.06853	2.377000	0.44300	-0.047000	0.13423	-1.157000	0.01802	GGA		0.597	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	0	NM_033194		17:40275109
RBMS2	5939	broad.mit.edu	37	12	56956368	56956368	+	Splice_Site	SNP	G	G	A	rs140037879		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:56956368G>A	ENST00000262031.5	+	2	328		c.e2+1		RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000549945.1_Splice_Site|RBMS2_ENST00000542360.1_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGTGTCAGCCGTAAGTTGGAG	0.488																																						ENST00000262031.5		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.e2+1		RNA binding motif, single stranded interacting protein 2		G		0,4406		0,0,2203	147.0	131.0	136.0			4.7	1.0	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	splice-5	RBMS2	NM_002898.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			56956368	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56956368G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.233+1G>A	12.37:g.56956368G>A		False	False		Somatic	0				RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_Splice_Site|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Splice_Site		NM_002898.3	NP_002889.1	WXS	Illumina HiSeq	Phase_I	Q15434	RBMS2_HUMAN			2	328	+			NA						Splice_Site	SNP	ENST00000262031.5	37		CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402870	0.83230	0.0	1.16E-4	ENSG00000076067	ENST00000262031;ENST00000552247	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8474	0.85984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55242635	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.989000	0.93506	2.589000	0.87451	0.555000	0.69702	.		0.488	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	0	NM_002898	Intron	12:56956368
CA6	765	broad.mit.edu	37	1	9011554	9011554	+	Intron	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:9011554G>A	ENST00000377443.2	+	2	263				CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000480186.3_Missense_Mutation_p.R111K|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	AAAGGCCAAAGGCAGTGGCTT	0.552																																						ENST00000480186.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(331-333)aGg>aAg		carbonic anhydrase VI							42.0	38.0	39.0					1																	9011554		876	1991	2867	SO:0001627	intron_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9011554G>A	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+2053G>A	1.37:g.9011554G>A		True	False		Somatic	0				CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron	p.R111K			WXS	Illumina HiSeq	Phase_I	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	337	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	NA					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.332G>A	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512281	0.27036	.	.	ENSG00000131686	ENST00000319474	T	0.32515	1.45	1.33	-0.848	0.10727	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28459	-1.0043	6	0.49607	T	0.09	.	1.8652	0.03197	0.2281:0.0:0.4491:0.3227	.	.	.	.	K	111	ENSP00000325786:R111K	ENSP00000325786:R111K	R	+	2	0	CA6	8934141	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	0.024000	0.13555	-0.268000	0.09312	0.449000	0.29647	AGG		0.552	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1	0			1:9011554
PIK3CG	5294	broad.mit.edu	37	7	106508903	106508903	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:106508903C>T	ENST00000359195.3	+	2	1207	c.897C>T	c.(895-897)aaC>aaT	p.N299N	PIK3CG_ENST00000496166.1_Silent_p.N299N|PIK3CG_ENST00000440650.2_Silent_p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	299	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N299N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCTCAAGAACGGAGAAGAGA	0.587																																						ENST00000359195.3		NA																	1	Substitution - coding silent(1)	p.N299N(1)	endometrium(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(895-897)aaC>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							49.0	48.0	48.0					7																	106508903		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508903C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.897C>T	7.37:g.106508903C>T		False	False		Somatic	0				PIK3CG_ENST00000496166.1_Silent_p.N299N|PIK3CG_ENST00000440650.2_Silent_p.N299N	p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	WXS	Illumina HiSeq	Phase_I	P48736	PK3CG_HUMAN			2	1207	+			299					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.897C>T	CCDS5739.1																																																																																				0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	0			7:106508903
KCNJ11	3767	broad.mit.edu	37	11	17408690	17408690	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:17408690G>A	ENST00000339994.4	-	1	1516	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	317					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTACAATGGGCACAAAGCGC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4		NA																	0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(949-951)Ccc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 11							151.0	131.0	138.0					11																	17408690		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408690G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.949C>T	11.37:g.17408690G>A	ENSP00000345708:p.Pro317Ser	True	False		Somatic	0	OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	p.P317S	NM_000525.3	NP_000516.3	WXS	Illumina HiSeq	Phase_I	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1516	-			230					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.949C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227133	0.39399	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.91996	-2.95;-2.95	5.43	5.43	0.79202	.	0.055715	0.64402	D	0.000001	D	0.89283	0.6671	L	0.47078	1.49	0.58432	D	0.999999	P	0.34977	0.478	B	0.30646	0.118	D	0.87963	0.2731	10	0.38643	T	0.18	.	19.2428	0.93891	0.0:0.0:1.0:0.0	.	317	B2RC52	.	S	317;230	ENSP00000345708:P317S;ENSP00000434755:P230S	ENSP00000345708:P317S	P	-	1	0	KCNJ11	17365266	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	8.062000	0.89475	2.548000	0.85928	0.561000	0.74099	CCC		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	0	NM_000525		11:17408690
SPATA13	221178	broad.mit.edu	37	13	24860488	24860488	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:24860488G>A	ENST00000382095.4	+	5	970	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000424834.2_Missense_Mutation_p.R813H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R691H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	188	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGTGGGGCCGCAGTGAAGAT	0.572																																						ENST00000424834.2		NA																	0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2437-2439)cGc>cAc		spermatogenesis associated 13							64.0	61.0	62.0					13																	24860488		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860488G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.563G>A	13.37:g.24860488G>A	ENSP00000371527:p.Arg188His	False	False		Somatic	0				SPATA13_ENST00000382095.4_Missense_Mutation_p.R188H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R691H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H	p.R813H			WXS	Illumina HiSeq	Phase_I	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2911	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	188					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2438G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555177	0.86231	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.12	5.12	0.69794	Src homology-3 domain (4);	0.047645	0.85682	D	0.000000	D	0.91123	0.7205	L	0.41961	1.31	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	1.0;0.992;1.0;0.999;0.992;0.998	D;P;D;D;P;D	0.87578	0.998;0.872;0.996;0.949;0.872;0.959	D	0.91856	0.5495	10	0.62326	D	0.03	.	17.5521	0.87879	0.0:0.0:1.0:0.0	.	110;132;134;134;110;188	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	H	813;188;148;134;110;110;132;132	ENSP00000371542:R813H;ENSP00000371527:R188H;ENSP00000401605:R148H;ENSP00000382830:R110H;ENSP00000386471:R110H;ENSP00000343631:R132H;ENSP00000397498:R132H	ENSP00000343631:R132H	R	+	2	0	SPATA13	23758488	1.000000	0.71417	0.975000	0.42487	0.514000	0.34195	6.270000	0.72563	2.393000	0.81446	0.561000	0.74099	CGC		0.572	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	0	NM_153023		13:24860488
AGPAT5	55326	broad.mit.edu	37	8	6588234	6588234	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:6588234G>T	ENST00000285518.6	+	3	604	c.292G>T	c.(292-294)Gac>Tac	p.D98Y		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	98					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CTCTGCAGTTGACTGGATTGT	0.517																																						ENST00000285518.6		NA																AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(292-294)Gac>Tac		1-acylglycerol-3-phosphate O-acyltransferase 5							200.0	170.0	180.0					8																	6588234		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6588234G>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.292G>T	8.37:g.6588234G>T	ENSP00000285518:p.Asp98Tyr	False	False		Somatic	0					p.D98Y	NM_018361.3	NP_060831.2	WXS	Illumina HiSeq	Phase_I	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	3	604	+			98					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.292G>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101947	0.76983	.	.	ENSG00000155189	ENST00000285518	D	0.99934	-8.28	5.65	5.65	0.86999	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96137	0.9097	10	0.87932	D	0	-9.7544	17.2308	0.86984	0.0:0.0:1.0:0.0	.	98	Q9NUQ2	PLCE_HUMAN	Y	98	ENSP00000285518:D98Y	ENSP00000285518:D98Y	D	+	1	0	AGPAT5	6575642	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.163000	0.94750	2.666000	0.90696	0.557000	0.71058	GAC		0.517	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	0	NM_018361		8:6588234
PRELP	5549	broad.mit.edu	37	1	203452587	203452587	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:203452587G>A	ENST00000343110.2	+	2	402	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	92					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGATAGCCGCAACCTGCGA	0.587																																						ENST00000343110.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(274-276)cGc>cAc		proline/arginine-rich end leucine-rich repeat protein							108.0	100.0	103.0					1																	203452587		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452587G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.275G>A	1.37:g.203452587G>A	ENSP00000343924:p.Arg92His	False	False		Somatic	0					p.R92H	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	WXS	Illumina HiSeq	Phase_I	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	402	+			92					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.275G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136216	0.77662	.	.	ENSG00000188783	ENST00000343110	D	0.97066	-4.23	4.71	4.71	0.59529	Leucine-rich repeat-containing N-terminal (2);	0.065635	0.64402	D	0.000012	D	0.98115	0.9378	M	0.76727	2.345	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	D	0.98206	1.0470	10	0.40728	T	0.16	-15.1291	16.2483	0.82460	0.0:0.0:1.0:0.0	.	92	P51888	PRELP_HUMAN	H	92	ENSP00000343924:R92H	ENSP00000343924:R92H	R	+	2	0	PRELP	201719210	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.990000	0.56965	2.165000	0.68154	0.462000	0.41574	CGC		0.587	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	0	NM_002725		1:203452587
TTN	7273	broad.mit.edu	37	2	179464373	179464373	+	Missense_Mutation	SNP	G	G	A	rs200132226		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179464373G>A	ENST00000591111.1	-	239	51556	c.51332C>T	c.(51331-51333)cCg>cTg	p.P17111L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18752L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17111	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAGACTGCGGAATAACTAA	0.428																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56254-56256)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,3851		0,1,1925	218.0	209.0	212.0		29060,48551,29435,29636	5.6	1.0	2		212	6,8250		0,6,4122	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,7,6047	AA,AG,GG		0.0727,0.026,0.0578	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	9687/26927,16184/33424,9812/27052,9879/27119	179464373	7,12101	1926	4128	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464373G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51332C>T	2.37:g.179464373G>A	ENSP00000465570:p.Pro17111Leu	False	False		Somatic	0				TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P17111L|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P18752L	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	56479	-			17111			Fibronectin type-III 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56255C>T		.	.	.	.	.	.	.	.	.	.	G	11.99	1.802335	0.31869	2.6E-4	7.27E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43545	0.1252	N	0.13299	0.325	0.43010	D	0.99454	P;P;P;P	0.39520	0.676;0.676;0.676;0.676	B;B;B;B	0.32289	0.143;0.143;0.143;0.143	T	0.54262	-0.8320	9	0.87932	D	0	.	14.2613	0.66088	0.0:0.0:0.8147:0.1852	.	9687;9812;9879;17111	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16184;9687;9879;9812;9685	ENSP00000343764:P16184L;ENSP00000434586:P9687L;ENSP00000340554:P9879L;ENSP00000352154:P9812L	ENSP00000340554:P9879L	P	-	2	0	TTN	179172618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.600000	0.61083	2.609000	0.88269	0.650000	0.86243	CCG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179464373
PSMA1	5682	broad.mit.edu	37	11	14536026	14536026	+	Missense_Mutation	SNP	C	C	T	rs371834255		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:14536026C>T	ENST00000396394.2	-	5	662	c.266G>A	c.(265-267)cGt>cAt	p.R89H	PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000530457.1_Missense_Mutation_p.R64H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACACTCCTGACGCATAAAATT	0.308																																						ENST00000530457.1		NA																	0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(190-192)cGt>cAt		proteasome (prosome, macropain) subunit, alpha type, 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	38.0	37.0	37.0		266,266,284	5.7	1.0	11		37	0,8588		0,0,4294	no	missense,missense,missense	PSMA1	NM_001143937.1,NM_002786.3,NM_148976.2	29,29,29	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	89/131,89/264,95/270	14536026	1,12987	2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14536026C>T	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.266G>A	11.37:g.14536026C>T	ENSP00000379676:p.Arg89His	False	False		Somatic	0				PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H	p.R64H			WXS	Illumina HiSeq	Phase_I	P25786	PSA1_HUMAN			5	721	-			89					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.191G>A	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096602	0.94197	2.27E-4	0.0	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	H	0.94542	3.55	0.80722	D	1	B;P;P	0.41710	0.389;0.76;0.543	B;B;B	0.34931	0.047;0.192;0.18	T	0.66380	-0.5938	10	0.66056	D	0.02	-2.5165	19.813	0.96554	0.0:1.0:0.0:0.0	.	89;95;89	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	H	89;89;89;64;95	ENSP00000392242:R89H;ENSP00000379676:R89H;ENSP00000379675:R89H;ENSP00000441166:R64H;ENSP00000414359:R95H	ENSP00000379675:R89H	R	-	2	0	PSMA1	14492602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.018000	0.76406	2.683000	0.91414	0.591000	0.81541	CGT		0.308	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	0	NM_002786		11:14536026
TRIM46	80128	broad.mit.edu	37	1	155149492	155149492	+	Missense_Mutation	SNP	C	C	T	rs573947622		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:155149492C>T	ENST00000334634.4	+	4	754	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W|TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|TRIM46_ENST00000392451.2_Missense_Mutation_p.R252W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	252						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCGGGTGCGGCGCACCCA	0.572											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0					ENST00000392451.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(754-756)Cgg>Tgg		tripartite motif containing 46							101.0	100.0	100.0					1																	155149492		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149492C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.754C>T	1.37:g.155149492C>T	ENSP00000334657:p.Arg252Trp	False	False		Somatic	0	OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1768	TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000334634.4_Missense_Mutation_p.R252W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W	p.R252W			WXS	Illumina HiSeq	Phase_I	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	837	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		252					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.754C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082698	0.76528	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.43	3.49	0.39957	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.59436	1.845	0.40970	D	0.984693	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.938;0.99;0.981;0.99;0.987	T	0.48445	-0.9035	10	0.49607	T	0.09	.	12.1901	0.54266	0.4685:0.5314:0.0:0.0	.	239;252;229;252;252	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	W	259;239;252;126;252;252;229;252	ENSP00000442719:R259W;ENSP00000357369:R252W;ENSP00000440254:R126W;ENSP00000376245:R252W;ENSP00000357367:R252W;ENSP00000357366:R229W;ENSP00000334657:R252W	ENSP00000334657:R252W	R	+	1	2	TRIM46	153416116	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	0.690000	0.31570	0.655000	0.94253	CGG		0.572	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	0	NM_025058		1:155149492
POLK	51426	broad.mit.edu	37	5	74886218	74886218	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:74886218G>C	ENST00000241436.4	+	11	1481	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000508526.1_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	437					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCTATGTCAAGAACTTTGCAG	0.338								DNA polymerases (catalytic subunits)																														ENST00000241436.4		NA																	0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1309-1311)Gaa>Caa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							139.0	142.0	141.0					5																	74886218		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74886218G>C	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1309G>C	5.37:g.74886218G>C	ENSP00000241436:p.Glu437Gln	False	False		Somatic	0				POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron	p.E437Q	NM_016218.2	NP_057302.1	WXS	Illumina HiSeq	Phase_I	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	11	1481	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	437					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1309G>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845069	0.71603	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.44083	1.25;0.93;0.93;1.25	5.41	5.41	0.78517	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (2);	0.088157	0.85682	D	0.000000	T	0.56587	0.1995	L	0.43152	1.355	0.80722	D	1	P;D;D	0.56746	0.603;0.969;0.977	P;P;D	0.65573	0.457;0.662;0.936	T	0.52931	-0.8509	10	0.46703	T	0.11	-19.1778	17.7307	0.88376	0.0:0.0:1.0:0.0	.	437;437;437	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	Q	437;437;437;347	ENSP00000241436:E437Q;ENSP00000424174:E437Q;ENSP00000425075:E437Q;ENSP00000369848:E347Q	ENSP00000241436:E437Q	E	+	1	0	POLK	74921974	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	9.536000	0.98067	2.701000	0.92244	0.591000	0.81541	GAA		0.338	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	0	NM_016218		5:74886218
SPATA31C1	441452	broad.mit.edu	37	9	90535640	90535640	+	RNA	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:90535640C>T	ENST00000602681.1	+	0	1544							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGATTTGGCGGCTTCTGTC	0.562																																						ENST00000602681.1		NA																	0					NA															57.0	51.0	53.0					9																	90535640		692	1591	2283			0							g.chr9:90535640C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535640C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1544	+			NA						RNA	SNP	ENST00000602681.1	37																																																																																						0.562	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	0	NM_001145124		9:90535640
POU2F1	5451	broad.mit.edu	37	1	167384904	167384904	+	Missense_Mutation	SNP	G	G	A	rs561712054		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:167384904G>A	ENST00000541643.3	+	17	2251	c.2089G>A	c.(2089-2091)Gca>Aca	p.A697T	POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A709T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	697					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTCTGCCGCCGCAGCATCTGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.001					ENST00000367862.5		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2125-2127)Gca>Aca		POU class 2 homeobox 1							150.0	139.0	142.0					1																	167384904		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384904G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2089G>A	1.37:g.167384904G>A	ENSP00000441285:p.Ala697Thr	False	False		Somatic	0				POU2F1_ENST00000541643.3_Missense_Mutation_p.A697T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T	p.A709T	NM_001198783.1	NP_001185712.1	WXS	Illumina HiSeq	Phase_I	P14859	PO2F1_HUMAN			16	2360	+			697					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2125G>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.901045	0.72754	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.89746	-2.55;-2.53;-2.53;-2.52;-2.56	5.29	5.29	0.74685	.	0.188821	0.44902	D	0.000419	T	0.81211	0.4775	N	0.19112	0.55	0.35590	D	0.806972	D;D;D;P	0.56521	0.96;0.976;0.976;0.892	B;B;P;B	0.46510	0.151;0.29;0.519;0.151	D	0.85609	0.1257	9	0.87932	D	0	.	17.295	0.87168	0.0:0.0:1.0:0.0	.	657;709;695;697	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	T	720;657;695;697;709	ENSP00000356840:A720T;ENSP00000401217:A657T;ENSP00000356839:A695T;ENSP00000441285:A697T;ENSP00000356836:A709T	ENSP00000356836:A709T	A	+	1	0	POU2F1	165651528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.572000	0.60886	2.746000	0.94184	0.591000	0.81541	GCA		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_002697		1:167384904
KLK13	26085	broad.mit.edu	37	19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512																																						ENST00000595793.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(610-612)gCc>gTc		kallikrein-related peptidase 13							212.0	191.0	198.0					19																	51561829		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51561829G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.611C>T	19.37:g.51561829G>A	ENSP00000470555:p.Ala204Val	True	False		Somatic	0				KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	p.A204V	NM_015596.1	NP_056411.1	WXS	Illumina HiSeq	Phase_I	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	4	653	-		all_neural(266;0.026)	204			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.611C>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960577	0.53400	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94966	-3.57	4.8	3.77	0.43336	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000229	D	0.96654	0.8908	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	1.0;0.895;0.999	D	0.95529	0.8601	10	0.32370	T	0.25	.	11.0896	0.48108	0.0906:0.0:0.9094:0.0	.	52;131;204	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	V	204;52	ENSP00000334079:A52V	ENSP00000156476:A204V	A	-	2	0	KLK13	56253641	1.000000	0.71417	0.890000	0.34922	0.139000	0.21198	5.936000	0.70153	1.393000	0.46605	-0.136000	0.14681	GCC		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	0	NM_015596		19:51561829
PHKA2	5256	broad.mit.edu	37	X	18929061	18929061	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363																																						ENST00000379942.4		NA																	0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2155-2157)Ccg>Tcg		phosphorylase kinase, alpha 2 (liver)							120.0	115.0	117.0					X																	18929061		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929061G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser	False	False		Somatic	0					p.P719S	NM_000292.2	NP_000283.1	WXS	Illumina HiSeq	Phase_I	P46019	KPB2_HUMAN			20	2820	-	Hepatocellular(33;0.183)		719					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2155C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		0.363	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	NM_000292		X:18929061
ARHGAP36	158763	broad.mit.edu	37	X	130222630	130222630	+	Silent	SNP	C	C	T	rs375497123		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:130222630C>T	ENST00000276211.5	+	12	1860	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	505					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGTGCCTTCCGGCACTGCCC	0.542																																						ENST00000276211.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1513-1515)tcC>tcT		Rho GTPase activating protein 36		C		1,3834		0,1,1631,571	51.0	44.0	47.0		1515	-0.8	0.1	X		47	0,6728		0,0,2428,1872	no	coding-synonymous	ARHGAP36	NM_144967.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		505/548	130222630	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130222630C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1515C>T	X.37:g.130222630C>T		False	False		Somatic	0				ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	p.S505S	NM_144967.3	NP_659404.2	WXS	Illumina HiSeq	Phase_I	Q6ZRI8	RHG36_HUMAN			12	1860	+			505					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.1515C>T	CCDS14628.1																																																																																				0.542	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	0	NM_144967		X:130222630
ENTPD2	954	broad.mit.edu	37	9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2		NA																	0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(1066-1068)Cgg>Tgg		ectonucleoside triphosphate diphosphohydrolase 2							50.0	57.0	54.0					9																	139944405		2202	4299	6501	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944405G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1066C>T	9.37:g.139944405G>A	ENSP00000347213:p.Arg356Trp	False	False		Somatic	0	OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	WXS	Illumina HiSeq	Phase_I	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1113	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	356					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.1066C>T	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858624	0.32791	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11712	2.75;2.75	4.33	0.364	0.16124	.	0.673516	0.15484	N	0.259909	T	0.24624	0.0597	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65773	0.897;0.938	T	0.06552	-1.0820	10	0.72032	D	0.01	-34.9035	12.0873	0.53704	0.0:0.0:0.5375:0.4625	.	356;356	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	W	356	ENSP00000347213:R356W;ENSP00000312494:R356W	ENSP00000312494:R356W	R	-	1	2	ENTPD2	139064226	0.000000	0.05858	0.254000	0.24359	0.142000	0.21351	0.253000	0.18296	0.188000	0.20168	-0.397000	0.06425	CGG		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	0	NM_203468		9:139944405
PENK	5179	broad.mit.edu	37	8	57353857	57353857	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:57353857T>C	ENST00000314922.3	-	2	854	c.778A>G	c.(778-780)Aga>Gga	p.R260G	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.R260G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	260					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCGTATCTTTTTTCCATT	0.498																																						ENST00000314922.3		NA																	0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(778-780)Aga>Gga		proenkephalin							78.0	88.0	85.0					8																	57353857		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353857T>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.778A>G	8.37:g.57353857T>C	ENSP00000324248:p.Arg260Gly	True	False		Somatic	0				PENK_ENST00000451791.2_Missense_Mutation_p.R260G	p.R260G	NM_006211.3	NP_006202.1	WXS	Illumina HiSeq	Phase_I	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	854	-		all_lung(136;0.229)	260					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.778A>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909140	0.72868	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	D;D	0.82619	-1.63;-1.63	5.71	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88660	0.3188	10	0.87932	D	0	-25.0477	11.9521	0.52961	0.0:0.0:0.2758:0.7242	.	260	P01210	PENK_HUMAN	G	260	ENSP00000324248:R260G;ENSP00000400894:R260G	ENSP00000324248:R260G	R	-	1	2	PENK	57516411	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	2.688000	0.46984	0.391000	0.25143	0.533000	0.62120	AGA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1	0			8:57353857
IL36G	56300	broad.mit.edu	37	2	113742456	113742456	+	Missense_Mutation	SNP	G	G	A	rs149685371		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113742456G>A	ENST00000259205.4	+	5	409	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	IL36G_ENST00000376489.2_Missense_Mutation_p.V79M	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	114					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCCGAGCCCGTGAAACCCTT	0.502																																						ENST00000259205.4		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(340-342)Gtg>Atg		interleukin 36, gamma		G	MET/VAL	0,4406		0,0,2203	142.0	130.0	134.0		340	0.8	0.0	2	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	yes	missense	IL36G	NM_019618.2	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	114/170	113742456	3,13003	2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742456G>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.340G>A	2.37:g.113742456G>A	ENSP00000259205:p.Val114Met	True	False		Somatic	0				IL36G_ENST00000376489.2_Missense_Mutation_p.V79M	p.V114M	NM_019618.2	NP_062564.1	WXS	Illumina HiSeq	Phase_I	Q9NZH8	IL36G_HUMAN			5	409	+			114					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.340G>A	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117400	0.08881	0.0	3.49E-4	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.16897	2.31;2.31	4.7	0.812	0.18744	.	0.366054	0.23536	N	0.047135	T	0.07638	0.0192	N	0.17248	0.465	0.09310	N	1	P;P	0.42357	0.777;0.769	B;B	0.36186	0.1;0.219	T	0.33007	-0.9885	10	0.27082	T	0.32	-15.0817	6.9685	0.24637	0.3978:0.0:0.6022:0.0	.	79;114	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	M	79;114	ENSP00000365672:V79M;ENSP00000259205:V114M	ENSP00000259205:V114M	V	+	1	0	IL36G	113458927	0.315000	0.24571	0.016000	0.15963	0.004000	0.04260	0.340000	0.19892	0.032000	0.15435	-0.254000	0.11334	GTG		0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	0	NM_019618		2:113742456
ZC3HAV1	56829	broad.mit.edu	37	7	138738203	138738203	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:138738203C>T	ENST00000242351.5	-	12	2759	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	815	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TAACCTTTTCCGTATTTGTTT	0.363																																						ENST00000242351.5		NA																	0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2443-2445)Gga>Aga		zinc finger CCCH-type, antiviral 1							117.0	121.0	120.0					7																	138738203		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138738203C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2443G>A	7.37:g.138738203C>T	ENSP00000242351:p.Gly815Arg	False	False		Somatic	0				ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	p.G815R	NM_020119.3	NP_064504.2	WXS	Illumina HiSeq	Phase_I	Q7Z2W4	ZCCHV_HUMAN			12	2759	-			815			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.2443G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550249	0.65311	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.78364	-1.17;-1.17	5.2	5.2	0.72013	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.48767	D	0.000172	D	0.90971	0.7161	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93057	0.6471	10	0.87932	D	0	.	14.6188	0.68569	0.0:1.0:0.0:0.0	.	815	Q7Z2W4	ZCCHV_HUMAN	R	815;937	ENSP00000242351:G815R;ENSP00000418385:G937R	ENSP00000242351:G815R	G	-	1	0	ZC3HAV1	138388743	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.613000	0.67688	2.584000	0.87258	0.563000	0.77884	GGA		0.363	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	0	NM_020119		7:138738203
MEN1	4221	broad.mit.edu	37	11	64577300	64577300	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:64577300G>A	ENST00000337652.1	-	2	785	c.282C>T	c.(280-282)acC>acT	p.T94T	MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	94			Missing (in MEN1). {ECO:0000269|PubMed:17555499}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A95fs*24(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGATCTGGGCGGTGAAGCGGG	0.647			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1		NA	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - Frameshift(1)	p.A95fs*24(1)	pancreas(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(280-282)acC>acT		multiple endocrine neoplasia I							33.0	38.0	36.0					11																	64577300		2201	4297	6498	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577300G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.282C>T	11.37:g.64577300G>A		False	False		Somatic	0				MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T	p.T94T	NM_130803.2	NP_570715	WXS	Illumina HiSeq	Phase_I	O00255	MEN1_HUMAN			2	785	-			94		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.282C>T	CCDS8083.1																																																																																				0.647	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0			11:64577300
FANCM	57697	broad.mit.edu	37	14	45623197	45623197	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:45623197G>A	ENST00000267430.5	+	6	1210	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	FANCM_ENST00000556036.1_Silent_p.Q375Q|FANCM_ENST00000542564.2_Silent_p.Q349Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	375					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTATTGCAGCAAATGGGAA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1123-1125)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							141.0	145.0	143.0					14																	45623197		2203	4299	6502	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45623197G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1125G>A	14.37:g.45623197G>A		False	False		Somatic	0				FANCM_ENST00000542564.2_Silent_p.Q349Q|FANCM_ENST00000556036.1_Silent_p.Q375Q	p.Q375Q	NM_020937.2	NP_065988.1	WXS	Illumina HiSeq	Phase_I	Q8IYD8	FANCM_HUMAN			6	1210	+			375					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.1125G>A	CCDS32070.1																																																																																				0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	XM_048128		14:45623197
NUP88	4927	broad.mit.edu	37	17	5322895	5322895	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:5322895G>A	ENST00000573584.1	-	1	585	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000405578.4_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	26					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCCCGGAGCCGCAAGAACACG	0.632																																						ENST00000573584.1		NA																	0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(76-78)Cgg>Tgg		nucleoporin 88kDa							73.0	72.0	73.0					17																	5322895		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322895G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.76C>T	17.37:g.5322895G>A	ENSP00000458954:p.Arg26Trp	False	False		Somatic	0					p.R26W	NM_002532.4	NP_002523.2	WXS	Illumina HiSeq	Phase_I	Q99567	NUP88_HUMAN			1	585	-			26					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.76C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020434	0.75275	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	4.22	0.49857	.	0.284904	0.36482	N	0.002578	T	0.69351	0.3101	L	0.51422	1.61	0.45914	D	0.998751	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.72527	-0.4266	9	0.72032	D	0.01	-5.8985	13.2216	0.59892	0.0:0.0:0.8397:0.1603	.	26;26	B7Z5I6;Q99567	.;NUP88_HUMAN	W	26	.	ENSP00000225696:R26W	R	-	1	2	NUP88	5263619	0.557000	0.26546	0.958000	0.39756	0.439000	0.31926	1.231000	0.32624	1.548000	0.49413	0.655000	0.94253	CGG		0.632	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	0	NM_002532		17:5322895
EDF1	8721	broad.mit.edu	37	9	139756786	139756786	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139756786G>A	ENST00000224073.1	-	5	424	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	133	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTTTCCCCGGAGCTTGAGG	0.597																																						ENST00000224073.1		NA																	0				lung(1)	1						c.(397-399)Cgg>Tgg		endothelial differentiation-related factor 1							202.0	178.0	186.0					9																	139756786		2203	4300	6503	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139756786G>A	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.397C>T	9.37:g.139756786G>A	ENSP00000224073:p.Arg133Trp	True	False		Somatic	0				EDF1_ENST00000371649.1_3'UTR	p.R133W	NM_003792.2	NP_003783.1	WXS	Illumina HiSeq	Phase_I	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	424	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	133			HTH cro/C1-type.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.397C>T	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836360	0.71373	.	.	ENSG00000107223	ENST00000224073	.	.	.	5.05	3.16	0.36331	Helix-turn-helix type 3 (2);	0.055037	0.85682	D	0.000000	T	0.77246	0.4102	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76982	-0.2757	9	0.87932	D	0	.	8.8018	0.34914	0.0792:0.0:0.771:0.1497	.	133	O60869	EDF1_HUMAN	W	133	.	ENSP00000224073:R133W	R	-	1	2	EDF1	138876607	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.545000	0.67237	0.513000	0.28278	-0.136000	0.14681	CGG		0.597	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1	0			9:139756786
VSNL1	7447	broad.mit.edu	37	2	17830679	17830679	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:17830679C>A	ENST00000406397.1	+	3	690	c.165C>A	c.(163-165)ttC>ttA	p.F55L	VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L|VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L			P62760	VISL1_HUMAN	visinin-like 1	55	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGCAGTTCTTTCCTTATG	0.572																																						ENST00000406397.1		NA																	0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(163-165)ttC>ttA		visinin-like 1							114.0	115.0	115.0					2																	17830679		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17830679C>A		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.165C>A	2.37:g.17830679C>A	ENSP00000384719:p.Phe55Leu	True	False		Somatic	0				VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L|VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L	p.F55L			WXS	Illumina HiSeq	Phase_I	P62760	VISL1_HUMAN			3	690	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		55			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.165C>A	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911958	0.52439	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.34	3.44	0.39384	EF-hand-like domain (1);	0.104574	0.64402	D	0.000002	T	0.28134	0.0694	M	0.79123	2.44	0.58432	D	0.999991	B	0.12013	0.005	B	0.10450	0.005	T	0.28713	-1.0035	10	0.72032	D	0.01	.	7.306	0.26447	0.0:0.7406:0.0:0.2594	.	55	P62760	VISL1_HUMAN	L	55	ENSP00000384014:F55L;ENSP00000405511:F55L;ENSP00000295156:F55L;ENSP00000390124:F55L;ENSP00000384719:F55L	ENSP00000295156:F55L	F	+	3	2	VSNL1	17694160	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.151000	0.42263	2.122000	0.65172	0.454000	0.30748	TTC		0.572	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	0	NM_003385		2:17830679
MARS2	92935	broad.mit.edu	37	2	198570923	198570923	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:198570923G>A	ENST00000282276.6	+	1	837	c.794G>A	c.(793-795)gGc>gAc	p.G265D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	265					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCACTGGGGCATTCCGGTG	0.552																																						ENST00000282276.6		NA																	0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(793-795)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						63.0	63.0	63.0					2																	198570923		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570923G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.794G>A	2.37:g.198570923G>A	ENSP00000282276:p.Gly265Asp	True	False		Somatic	0				AC011997.1_ENST00000409845.1_Intron	p.G265D	NM_138395.3	NP_612404.1	WXS	Illumina HiSeq	Phase_I	Q96GW9	SYMM_HUMAN			1	837	+			265					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.794G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782869	0.90282	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.71579	-0.58	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class I (M) (1);	0.000000	0.85682	D	0.000000	D	0.91068	0.7189	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94224	0.7470	10	0.87932	D	0	-17.4385	17.5664	0.87921	0.0:0.0:1.0:0.0	.	265	Q96GW9	SYMM_HUMAN	D	265;192	ENSP00000282276:G265D	ENSP00000282276:G265D	G	+	2	0	MARS2	198279168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.746000	0.98859	2.738000	0.93877	0.655000	0.94253	GGC		0.552	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	0	NM_138395		2:198570923
ZNF585A	199704	broad.mit.edu	37	19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T	rs572122130		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	0.403																																						ENST00000356958.4		NA																	1	Substitution - Missense(1)	p.E499K(1)	breast(1)	breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1660-1662)Gaa>Aaa		zinc finger protein 585A							60.0	61.0	61.0					19																	37643141		2203	4297	6500	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643141C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1660G>A	19.37:g.37643141C>T	ENSP00000349440:p.Glu554Lys	False	False		Somatic	0				ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K	p.E554K			WXS	Illumina HiSeq	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1918	-			554					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1660G>A		.	.	.	.	.	.	.	.	.	.	C	14.73	2.624049	0.46840	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.07327	3.2;3.2;3.2	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198022	0.24828	N	0.035278	T	0.19886	0.0478	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.01729	-1.1286	9	0.62326	D	0.03	.	12.9943	0.58638	0.0:1.0:0.0:0.0	.	554	Q6P3V2	Z585A_HUMAN	K	554;499;499	ENSP00000349440:E554K;ENSP00000292841:E499K;ENSP00000375998:E499K	ENSP00000292841:E499K	E	-	1	0	ZNF585A	42334981	0.000000	0.05858	0.499000	0.27577	0.833000	0.47200	0.153000	0.16323	1.621000	0.50320	0.650000	0.86243	GAA		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	0	NM_152655		19:37643141
DCAF12L1	139170	broad.mit.edu	37	X	125685938	125685938	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652																																						ENST00000371126.1		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(652-654)gcG>gcA		DDB1 and CUL4 associated factor 12-like 1							32.0	34.0	33.0					X																	125685938		2201	4296	6497	SO:0001819	synonymous_variant	139170							g.chrX:125685938C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.654G>A	X.37:g.125685938C>T		True	False		Somatic	0					p.A218A	NM_178470.4	NP_848565.2	WXS	Illumina HiSeq	Phase_I	Q5VU92	DC121_HUMAN			1	896	-			218					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.654G>A	CCDS14610.1																																																																																				0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	0	NM_178470		X:125685938
CBL	867	broad.mit.edu	37	11	119145571	119145571	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:119145571C>A	ENST00000264033.4	+	5	1153	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	259	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAATTGGAACAGCCTTGCTG	0.448			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4		NA		"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(775-777)aaC>aaA		Cbl proto-oncogene, E3 ubiquitin protein ligase							185.0	164.0	171.0					11																	119145571		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119145571C>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.777C>A	11.37:g.119145571C>A	ENSP00000264033:p.Asn259Lys	False	False		Somatic	0					p.N259K	NM_005188.3	NP_005179.2	WXS	Illumina HiSeq	Phase_I	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	5	1153	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	259			Cbl-PTB.|SH2-like.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.777C>A	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171641	0.57584	.	.	ENSG00000110395	ENST00000264033	T	0.77229	-1.08	5.78	2.49	0.30216	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	L	0.27053	0.805	0.58432	D	0.999999	P	0.48089	0.905	P	0.59171	0.853	T	0.73248	-0.4043	10	0.44086	T	0.13	-32.4516	9.5841	0.39506	0.0:0.6369:0.0:0.3631	.	259	P22681	CBL_HUMAN	K	259	ENSP00000264033:N259K	ENSP00000264033:N259K	N	+	3	2	CBL	118650781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.876000	0.28092	0.812000	0.34326	0.655000	0.94253	AAC		0.448	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	0	NM_005188		11:119145571
SLC35D1	23169	broad.mit.edu	37	1	67487220	67487220	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:67487220C>A	ENST00000235345.5	-	9	880	c.795G>T	c.(793-795)atG>atT	p.M265I	SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	265					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AGGCTTACCCCATCACACAGG	0.423																																						ENST00000235345.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(793-795)atG>atT		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						113.0	112.0	113.0					1																	67487220		2203	4300	6503	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67487220C>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.795G>T	1.37:g.67487220C>A	ENSP00000235345:p.Met265Ile	True	False		Somatic	0				SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I	p.M265I	NM_015139.2	NP_055954.1	WXS	Illumina HiSeq	Phase_I	Q9NTN3	S35D1_HUMAN			9	880	-			265					A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.795G>T	CCDS636.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868722	0.91587	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.61158	0.13;0.13	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.036070	0.85682	D	0.000000	T	0.67059	0.2853	M	0.80616	2.505	0.80722	D	1	P;P	0.46859	0.792;0.885	P;P	0.55222	0.542;0.771	T	0.60687	-0.7214	10	0.22109	T	0.4	-8.9634	19.6313	0.95704	0.0:1.0:0.0:0.0	.	186;265	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	I	265;186	ENSP00000235345:M265I;ENSP00000445189:M186I	ENSP00000235345:M265I	M	-	3	0	SLC35D1	67259808	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.389000	0.73199	2.937000	0.99478	0.650000	0.86243	ATG		0.423	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	0	NM_015139		1:67487220
CYP11B2	1585	broad.mit.edu	37	8	143994080	143994080	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:143994080G>A	ENST00000323110.2	-	8	1266	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGATTATACCGCTCAGGCCTC	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2		NA																	0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1264-1266)Cgg>Tgg		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						86.0	90.0	89.0					8																	143994080		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994080G>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1264C>T	8.37:g.143994080G>A	ENSP00000325822:p.Arg422Trp	False	False		Somatic	0					p.R422W	NM_000498.3	NP_000489.3	WXS	Illumina HiSeq	Phase_I	P19099	C11B2_HUMAN			8	1266	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		422					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1264C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.511841	0.44660	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	0.551	0.17225	.	0.399630	0.21610	N	0.071815	T	0.78272	0.4257	M	0.89968	3.075	0.26442	N	0.975755	D	0.76494	0.999	D	0.64877	0.93	T	0.67142	-0.5745	10	0.87932	D	0	.	3.2888	0.06942	0.1067:0.1729:0.5433:0.1771	.	422	P19099	C11B2_HUMAN	W	422	ENSP00000325822:R422W	ENSP00000325822:R422W	R	-	1	2	CYP11B2	143991082	0.994000	0.37717	0.171000	0.22900	0.001000	0.01503	1.534000	0.36051	0.253000	0.21552	-0.302000	0.09304	CGG		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1	0			8:143994080
MYBPC2	4606	broad.mit.edu	37	19	50963351	50963351	+	Missense_Mutation	SNP	C	C	T	rs201756677		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:50963351C>T	ENST00000357701.5	+	24	2897	c.2846C>T	c.(2845-2847)gCg>gTg	p.A949V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	949	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGCACGAACGCGCTGGTGGAG	0.537																																						ENST00000357701.5		NA																	0				breast(1)	1						c.(2845-2847)gCg>gTg		myosin binding protein C, fast type		C	VAL/ALA	0,3962		0,0,1981	26.0	31.0	29.0		2846	3.5	1.0	19		29	1,8273		0,1,4136	yes	missense	MYBPC2	NM_004533.3	64	0,1,6117	TT,TC,CC		0.0121,0.0,0.0082	benign	949/1142	50963351	1,12235	1981	4137	6118	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50963351C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2846C>T	19.37:g.50963351C>T	ENSP00000350332:p.Ala949Val	False	False		Somatic	0					p.A949V	NM_004533.3	NP_004524.3	WXS	Illumina HiSeq	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	24	2897	+		all_neural(266;0.057)	949			Fibronectin type-III 3.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2846C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	6.279	0.419576	0.11928	0.0	1.21E-4	ENSG00000086967	ENST00000357701	T	0.54279	0.58	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.191988	0.22737	U	0.056252	T	0.25717	0.0626	N	0.03084	-0.415	0.38226	D	0.940895	B	0.18610	0.029	B	0.19148	0.024	T	0.23013	-1.0200	10	0.02654	T	1	.	14.6643	0.68896	0.0:1.0:0.0:0.0	.	949	Q14324	MYPC2_HUMAN	V	949	ENSP00000350332:A949V	ENSP00000350332:A949V	A	+	2	0	MYBPC2	55655163	0.263000	0.24083	0.991000	0.47740	0.978000	0.69477	0.788000	0.26872	1.894000	0.54839	0.450000	0.29827	GCG		0.537	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	0	NM_004533		19:50963351
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269																																						ENST00000261180.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1672-1674)aAg>aCg		thyrotropin-releasing hormone degrading enzyme							36.0	37.0	37.0					12																	72955964		2197	4267	6464	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955964A>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1673A>C	12.37:g.72955964A>C	ENSP00000261180:p.Lys558Thr	False	False		Somatic	0				TRHDE_ENST00000549138.1_3'UTR	p.K558T	NM_013381.2	NP_037513.1	WXS	Illumina HiSeq	Phase_I	Q9UKU6	TRHDE_HUMAN			8	1769	+			558					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1673A>C	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA		0.269	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	0	NM_013381		12:72955964
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5		NA																	2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu	False	False		Somatic	0					p.G487E	NM_001137671.1	NP_001131143.1	WXS	Illumina HiSeq	Phase_I	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	0	XM_496269		18:14513734
PARP9	83666	broad.mit.edu	37	3	122274267	122274267	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:122274267C>A	ENST00000360356.2	-	4	1083	c.856G>T	c.(856-858)Gct>Tct	p.A286S	PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000462315.1_Missense_Mutation_p.A251S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	286	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTAAAGGCAGCAACAGTAGGG	0.448																																						ENST00000462315.1		NA																	0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(751-753)Gct>Tct		poly (ADP-ribose) polymerase family, member 9							169.0	166.0	167.0					3																	122274267		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274267C>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.856G>T	3.37:g.122274267C>A	ENSP00000353512:p.Ala286Ser	False	False		Somatic	0				PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000360356.2_Missense_Mutation_p.A286S	p.A251S	NM_001146106.1	NP_001139578.1	WXS	Illumina HiSeq	Phase_I	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1044	-			286			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.751G>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746139	0.49151	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.38	4.37	0.52481	Appr-1-p processing (1);	0.787865	0.11079	N	0.601994	T	0.23965	0.0580	L	0.58428	1.81	0.28693	N	0.904515	B;P;P	0.46395	0.094;0.877;0.835	B;B;P	0.45794	0.056;0.339;0.493	T	0.05241	-1.0897	10	0.15499	T	0.54	.	7.7777	0.29048	0.0:0.7824:0.0:0.2176	.	251;286;251	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	S	286;251;251;209;251	ENSP00000353512:A286S;ENSP00000419506:A251S;ENSP00000419001:A251S;ENSP00000418894:A251S	ENSP00000353512:A286S	A	-	1	0	PARP9	123756957	0.010000	0.17322	0.992000	0.48379	0.940000	0.58332	0.631000	0.24568	1.254000	0.44035	0.655000	0.94253	GCT		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	0	NM_031458		3:122274267
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
AGAP11	119385	broad.mit.edu	37	10	88767456	88767456	+	RNA	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:88767456C>A	ENST00000444431.1	+	0	2704				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAGTTATACTCATTTGCGGTA	0.318																																						ENST00000444431.1		NA																	0					NA								ankyrin repeat and GTPase domain Arf GTPase activating protein 11							83.0	93.0	90.0					10																	88767456		2203	4291	6494			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767456C>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767456C>A		False	False		Somatic	0				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina HiSeq	Phase_I	Q8TF27	AGA11_HUMAN			0	2704	+			NA					B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.318	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	0	NM_133447		10:88767456
POLQ	10721	broad.mit.edu	37	3	121192310	121192310	+	Missense_Mutation	SNP	G	G	A	rs375962847		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:121192310G>A	ENST00000264233.5	-	21	6558	c.6430C>T	c.(6430-6432)Ccc>Tcc	p.P2144S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2144					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTATTTGGGGGCAACTTCAAT	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6430-6432)Ccc>Tcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							176.0	183.0	181.0					3																	121192310		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192310G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6430C>T	3.37:g.121192310G>A	ENSP00000264233:p.Pro2144Ser	True	False		Somatic	0					p.P2144S	NM_199420.3	NP_955452.3	WXS	Illumina HiSeq	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6558	-			2144					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6430C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617703	0.87359	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58506	0.33	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.82923	2.615	0.42714	D	0.993654	D;D	0.89917	0.991;1.0	P;D	0.87578	0.634;0.998	T	0.80331	-0.1427	10	0.87932	D	0	.	14.6445	0.68751	0.0692:0.0:0.9307:0.0	.	2144;1316	O75417;O75417-2	DPOLQ_HUMAN;.	S	1767;2144;2280	ENSP00000264233:P2144S	ENSP00000264233:P2144S	P	-	1	0	POLQ	122675000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.952000	0.75989	2.847000	0.97988	0.591000	0.81541	CCC		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	0	NM_199420		3:121192310
ZC3H6	376940	broad.mit.edu	37	2	113089550	113089550	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113089550G>A	ENST00000409871.1	+	12	3456	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1019							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCTGGTTCCGGGGCTCTGCC	0.507																																						ENST00000409871.1		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3055-3057)Ggg>Agg		zinc finger CCCH-type containing 6							57.0	54.0	55.0					2																	113089550		1901	4124	6025	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089550G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3055G>A	2.37:g.113089550G>A	ENSP00000386764:p.Gly1019Arg	True	False		Somatic	0				ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	p.G1019R	NM_198581.2	NP_940983.2	WXS	Illumina HiSeq	Phase_I	P61129	ZC3H6_HUMAN			12	3456	+			1019					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3055G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257724	0.10239	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.13538	2.58;2.58	5.33	3.27	0.37495	.	0.565940	0.18877	N	0.128691	T	0.11452	0.0279	L	0.44542	1.39	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.25152	-1.0140	10	0.33141	T	0.24	-0.002	8.1676	0.31237	0.2758:0.0:0.7242:0.0	.	1019	P61129	ZC3H6_HUMAN	R	1019	ENSP00000386764:G1019R;ENSP00000340298:G1019R	ENSP00000340298:G1019R	G	+	1	0	ZC3H6	112806021	1.000000	0.71417	0.162000	0.22713	0.473000	0.32948	4.501000	0.60393	0.434000	0.26340	0.591000	0.81541	GGG		0.507	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	0	NM_198581		2:113089550
MYH4	4622	broad.mit.edu	37	17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478																																						ENST00000255381.2		NA																	0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1333-1335)cGc>cAc		myosin, heavy chain 4, skeletal muscle							196.0	181.0	186.0					17																	10363351		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363351C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1334G>A	17.37:g.10363351C>T	ENSP00000255381:p.Arg445His	True	False		Somatic	0				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.R445H	NM_017533.2	NP_060003.2	WXS	Illumina HiSeq	Phase_I	Q9Y623	MYH4_HUMAN			14	1444	-			445			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1334G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456265	0.96223	.	.	ENSG00000141048	ENST00000255381	D	0.88741	-2.42	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.38272	U	0.001758	D	0.95639	0.8582	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96124	0.9087	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	445	Q9Y623	MYH4_HUMAN	H	445	ENSP00000255381:R445H	ENSP00000255381:R445H	R	-	2	0	MYH4	10304076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.669000	0.90835	0.650000	0.86243	CGC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	NM_017533		17:10363351
ZNF410	57862	broad.mit.edu	37	14	74358760	74358760	+	5'UTR	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:74358760C>A	ENST00000555044.1	+	0	76				ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000324593.6_5'UTR|ZNF410_ENST00000556797.1_5'Flank|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.S276Y|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_5'UTR|ZNF410_ENST00000442160.3_5'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AGTACAACATCTTACGGGAAG	0.398																																						ENST00000556551.2		NA																	0					NA						c.(826-828)tCt>tAt																																						SO:0001623	5_prime_UTR_variant	0							g.chr14:74358760C>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.-119C>A	14.37:g.74358760C>A		False	False		Somatic	0				ZNF410_ENST00000442160.3_5'UTR|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000324593.6_5'UTR|ZNF410_ENST00000555044.1_5'UTR|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_5'UTR	p.S276Y			WXS	Illumina HiSeq	Phase_I					10	1020	+			NA					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.827C>A	CCDS9821.1																																																																																				0.398	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	0	NM_021188		14:74358760
MAGEB6	158809	broad.mit.edu	37	X	26213152	26213152	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:26213152G>C	ENST00000379034.1	+	2	1338	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	397										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCTTTGATAGATGAGGTAGA	0.502																																						ENST00000379034.1		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1189-1191)Gat>Cat		melanoma antigen family B, 6							120.0	111.0	114.0					X																	26213152		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26213152G>C	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1189G>C	X.37:g.26213152G>C	ENSP00000368320:p.Asp397His	False	False		Somatic	0					p.D397H	NM_173523.2	NP_775794.2	WXS	Illumina HiSeq	Phase_I	Q8N7X4	MAGB6_HUMAN			2	1338	+			397					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1189G>C	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906303	0.33628	.	.	ENSG00000176746	ENST00000379034	T	0.02837	4.14	3.29	2.4	0.29515	.	0.345998	0.25771	U	0.028418	T	0.12347	0.0300	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.02860	-1.1101	10	0.87932	D	0	.	6.0678	0.19873	0.1475:0.0:0.8525:0.0	.	397	Q8N7X4	MAGB6_HUMAN	H	397	ENSP00000368320:D397H	ENSP00000368320:D397H	D	+	1	0	MAGEB6	26123073	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.154000	0.31688	0.742000	0.32697	0.594000	0.82650	GAT		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	0	NM_173523		X:26213152
GYS1	2997	broad.mit.edu	37	19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542																																						ENST00000323798.3		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Cgg>Tgg		glycogen synthase 1 (muscle)							99.0	105.0	103.0					19																	49485993		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485993G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.925C>T	19.37:g.49485993G>A	ENSP00000317904:p.Arg309Trp	True	False		Somatic	0				GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W	p.R309W	NM_002103.4	NP_002094.2	WXS	Illumina HiSeq	Phase_I	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	6	1121	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	309					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.925C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	0	NM_002103		19:49485993
BMP1	649	broad.mit.edu	37	8	22019355	22019355	+	5'Flank	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:22019355G>A	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGGGCAGCAAAGAGGTC	0.582																																						ENST00000521315.1		NA																	0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(13-15)aGc>aAc		surfactant protein C							164.0	188.0	180.0					8																	22019355		2168	4261	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019355G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019355G>A	Exception_encountered	False	False		Somatic	0				SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N	p.S5N			WXS	Illumina HiSeq	Phase_I	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	46	+			5					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.14G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	NM_006132		8:22019355
TOX2	84969	broad.mit.edu	37	20	42695426	42695426	+	Silent	SNP	A	A	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:42695426A>T	ENST00000358131.5	+	7	1567	c.1359A>T	c.(1357-1359)ccA>ccT	p.P453P	TOX2_ENST00000341197.4_Silent_p.P471P|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Silent_p.P429P|TOX2_ENST00000372999.1_Silent_p.P429P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	453	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCCCATCCAACCCCA	0.627																																						ENST00000358131.5		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1357-1359)ccA>ccT		TOX high mobility group box family member 2							131.0	122.0	125.0					20																	42695426		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695426A>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1359A>T	20.37:g.42695426A>T		True	False		Somatic	0				TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.P471P|TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000423191.2_Silent_p.P429P	p.P453P	NM_001098798.1	NP_001092268.1	WXS	Illumina HiSeq	Phase_I	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1567	+		Myeloproliferative disorder(115;0.00452)	453			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1359A>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	5.215	0.225183	0.09916	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.78	-11.3	0.00108	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.38329	D	0.943755	.	.	.	.	.	.	D	0.87310	0.2311	5	0.87932	D	0	.	20.2522	0.98409	0.8527:0.0:0.1473:0.0	.	.	.	.	L	78	.	ENSP00000362083:H78L	H	+	2	0	TOX2	42128840	0.071000	0.21146	0.033000	0.17914	0.065000	0.16274	-0.405000	0.07196	-3.008000	0.00273	-2.200000	0.00306	CAT		0.627	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	0			20:42695426
NANOG	79923	broad.mit.edu	37	12	7945647	7945647	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7945647G>A	ENST00000229307.4	+	2	472	c.253G>A	c.(253-255)Gca>Aca	p.A85T	NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	85					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAAGAGTGTCGCAAAAAAGGA	0.478																																						ENST00000229307.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(253-255)Gca>Aca		Nanog homeobox							69.0	61.0	64.0					12																	7945647		2202	4292	6494	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945647G>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.253G>A	12.37:g.7945647G>A	ENSP00000229307:p.Ala85Thr	False	False		Somatic	0				NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	p.A85T	NM_024865.2	NP_079141.2	WXS	Illumina HiSeq	Phase_I	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	2	472	+			85					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.253G>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.311903	0.01342	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91237	-2.81;-2.81;-2.78	4.1	0.704	0.18121	Homeodomain-related (1);	3.012810	0.00789	N	0.001330	T	0.81230	0.4779	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68534	-0.5383	10	0.13108	T	0.6	1.3277	8.8453	0.35166	0.3408:0.0:0.6592:0.0	.	85	Q9H9S0	NANOG_HUMAN	T	61;85;85	ENSP00000444434:A61T;ENSP00000229307:A85T;ENSP00000435288:A85T	ENSP00000229307:A85T	A	+	1	0	NANOG	7836914	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.200000	0.17257	-0.023000	0.13963	-1.749000	0.00680	GCA		0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	0	NM_024865		12:7945647
NCAPH	23397	broad.mit.edu	37	2	97033078	97033078	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:97033078G>A	ENST00000240423.4	+	15	2008	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	NCAPH_ENST00000455200.1_Silent_p.L644L|NCAPH_ENST00000427946.1_Silent_p.L519L	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	655					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTCTGCTGACAGCGCTCT	0.478																																						ENST00000455200.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1930-1932)ctG>ctA		non-SMC condensin I complex, subunit H							87.0	85.0	85.0					2																	97033078		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97033078G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1965G>A	2.37:g.97033078G>A		False	False		Somatic	0				NCAPH_ENST00000240423.4_Silent_p.L655L|NCAPH_ENST00000427946.1_Silent_p.L519L	p.L644L			WXS	Illumina HiSeq	Phase_I	Q15003	CND2_HUMAN			15	2227	+		Ovarian(717;0.0221)	655					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.1932G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	4.855	0.158883	0.09236	.	.	ENSG00000121152	ENST00000435349	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60895	-0.7172	4	.	.	.	-11.9218	11.4063	0.49900	0.0812:0.0:0.9188:0.0	.	.	.	.	N	96	.	.	D	+	1	0	NCAPH	96396805	1.000000	0.71417	0.995000	0.50966	0.514000	0.34195	2.854000	0.48325	2.890000	0.99128	0.650000	0.86243	GAC		0.478	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	0	NM_015341		2:97033078
TEX12	56158	broad.mit.edu	37	11	112040055	112040055	+	Splice_Site	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		TEX12_ENST00000530752.1_Splice_Site|SDHD_ENST00000525468.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA|AP002884.3_ENST00000532612.1_5'Flank|SDHD_ENST00000532699.1_Intron	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12						meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373																																						ENST00000280358.4		NA																	0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e2+1		testis expressed 12							205.0	221.0	216.0					11																	112040055		2201	4297	6498	SO:0001630	splice_region_variant	56158							g.chr11:112040055G>A	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"""testis expressed sequence 12"""			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.63+1G>A	11.37:g.112040055G>A		False	False		Somatic	0				TEX12_ENST00000530752.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site		NM_031275.4	NP_112565.1	WXS	Illumina HiSeq	Phase_I	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	195	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	NA					A6NDL9|B0YIX3	Splice_Site	SNP	ENST00000280358.4	37		CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		0.373	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1	0		Intron	11:112040055
SLC5A2	6524	broad.mit.edu	37	16	31500513	31500513	+	Missense_Mutation	SNP	G	G	C	rs372027584		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:31500513G>C	ENST00000330498.3	+	12	1538	c.1519G>C	c.(1519-1521)Ggc>Cgc	p.G507R	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	507					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GTTCTCCTTCGGCTCGGGCAG	0.637																																						ENST00000330498.3		NA																	0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1519-1521)Ggc>Cgc		solute carrier family 5 (sodium/glucose cotransporter), member 2							71.0	57.0	62.0					16																	31500513		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500513G>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1519G>C	16.37:g.31500513G>C	ENSP00000327943:p.Gly507Arg	False	False		Somatic	0					p.G507R	NM_003041.3	NP_003032.1	WXS	Illumina HiSeq	Phase_I	P31639	SC5A2_HUMAN			12	1538	+			507					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1519G>C	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702935|3.702935	0.68501|0.68501	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000330498|ENST00000419665	D|D	0.86769|0.86366	-2.17|-2.11	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90950|0.90950	0.7155|0.7155	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91742|0.91742	0.5405|0.5405	10|7	0.11794|0.66056	T|D	0.64|0.02	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	P31639|.	SC5A2_HUMAN|.	R|P	507|400	ENSP00000327943:G507R|ENSP00000410601:R400P	ENSP00000327943:G507R|ENSP00000410601:R400P	G|R	+|+	1|2	0|0	SLC5A2|SLC5A2	31408014|31408014	1.000000|1.000000	0.71417|0.71417	0.587000|0.587000	0.28692|0.28692	0.658000|0.658000	0.38924|0.38924	3.548000|3.548000	0.53670|0.53670	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.637	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	0			16:31500513
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T	rs571099747		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17923	0.0		0.001	False		,,,				2504	0.0					ENST00000281523.2		NA																	0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(61-63)cGt>cAt		zinc finger protein 385D							77.0	72.0	73.0					3																	21706481		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706481C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.62G>A	3.37:g.21706481C>T	ENSP00000281523:p.Arg21His	True	False		Somatic	0				ZNF385D_ENST00000494118.1_Intron	p.R21H	NM_024697.2	NP_078973.1	WXS	Illumina HiSeq	Phase_I	Q9H6B1	Z385D_HUMAN			2	580	-			21						Missense_Mutation	SNP	ENST00000281523.2	37	c.62G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106592	0.56291	.	.	ENSG00000151789	ENST00000281523	T	0.33654	1.4	5.62	4.75	0.60458	.	0.129051	0.52532	N	0.000066	T	0.35189	0.0923	L	0.55481	1.735	0.38752	D	0.954131	B	0.09022	0.002	B	0.04013	0.001	T	0.23048	-1.0199	10	0.51188	T	0.08	-8.954	13.2857	0.60241	0.0:0.924:0.0:0.076	.	21	Q9H6B1	Z385D_HUMAN	H	21	ENSP00000281523:R21H	ENSP00000281523:R21H	R	-	2	0	ZNF385D	21681485	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.054000	0.57434	1.376000	0.46267	0.591000	0.81541	CGT		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	0	NM_024697		3:21706481
WDFY3	23001	broad.mit.edu	37	4	85708746	85708746	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:85708746G>A	ENST00000295888.4	-	23	4197	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1264C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1264					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTCCCAGGCGCCAAACCAAT	0.473																																						ENST00000322366.6		NA																	0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3790-3792)Cgc>Tgc		WD repeat and FYVE domain containing 3							78.0	73.0	75.0					4																	85708746		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85708746G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3790C>T	4.37:g.85708746G>A	ENSP00000295888:p.Arg1264Cys	False	False		Somatic	0				WDFY3_ENST00000295888.4_Missense_Mutation_p.R1264C	p.R1264C			WXS	Illumina HiSeq	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	23	4197	-		Hepatocellular(203;0.114)	1264					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3790C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384949	0.95967	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	P	0.50791	0.65	T	0.79472	-0.1789	10	0.87932	D	0	.	20.3523	0.98815	0.0:0.0:1.0:0.0	.	1264	Q8IZQ1	WDFY3_HUMAN	C	1264	ENSP00000318466:R1264C;ENSP00000295888:R1264C	ENSP00000295888:R1264C	R	-	1	0	WDFY3	85927770	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.464000	0.97655	2.821000	0.97095	0.484000	0.47621	CGC		0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	0	NM_014991		4:85708746
TMEM8B	51754	broad.mit.edu	37	9	35853151	35853151	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:35853151T>A	ENST00000377991.4	+	13	1995	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	TMEM8B_ENST00000377988.2_Missense_Mutation_p.L327Q	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	327					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTGTATTTGCTGGGAGCTATG	0.582																																						ENST00000377988.2		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(979-981)cTg>cAg		transmembrane protein 8B							157.0	159.0	159.0					9																	35853151		2018	4181	6199	SO:0001583	missense	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853151T>A	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.980T>A	9.37:g.35853151T>A	ENSP00000367230:p.Leu327Gln	True	False		Somatic	0				TMEM8B_ENST00000377991.4_Missense_Mutation_p.L327Q	p.L327Q	NM_001042590.2	NP_001036055.1	WXS	Illumina HiSeq	Phase_I	A6NDV4	TMM8B_HUMAN			12	2268	+			327					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	c.980T>A	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237817	0.79800	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.48836	0.8;0.8	4.98	4.98	0.66077	.	.	.	.	.	T	0.71091	0.3299	M	0.84683	2.71	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	T	0.76642	-0.2884	9	0.72032	D	0.01	.	13.8098	0.63256	0.0:0.0:0.0:1.0	.	327	A6NDV4	TMM8B_HUMAN	Q	327	ENSP00000367230:L327Q;ENSP00000367227:L327Q	ENSP00000367227:L327Q	L	+	2	0	TMEM8B	35843151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.002000	0.58637	0.454000	0.30748	CTG		0.582	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	0	NM_016446		9:35853151
ABCF3	55324	broad.mit.edu	37	3	183911015	183911015	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:183911015A>G	ENST00000429586.2	+	19	2061	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	626	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGATGACTATGCCCTGGTG	0.557																																						ENST00000429586.2		NA																	0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1876-1878)Atg>Gtg		ATP-binding cassette, sub-family F (GCN20), member 3							90.0	89.0	90.0					3																	183911015		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183911015A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1876A>G	3.37:g.183911015A>G	ENSP00000411471:p.Met626Val	False	False		Somatic	0				ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	p.M626V	NM_018358.2	NP_060828.2	WXS	Illumina HiSeq	Phase_I	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2061	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		626			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1876A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107864	0.56291	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.84800	-1.9;-1.9	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.10945	0.07	0.80722	D	1	P;P	0.43352	0.619;0.804	B;B	0.44044	0.341;0.439	T	0.80070	-0.1536	10	0.52906	T	0.07	-29.4571	13.9755	0.64271	1.0:0.0:0.0:0.0	.	620;626	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	626;620	ENSP00000411471:M626V;ENSP00000292808:M620V	ENSP00000292808:M620V	M	+	1	0	ABCF3	185393709	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.140000	0.66376	0.460000	0.39030	ATG		0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	0	NM_018358		3:183911015
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000420246.2_Missense_Mutation_p.R248L	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cTg	Other conserved DNA damage response genes	tumor protein p53							152.0	112.0	126.0					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>A	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.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu	False	False	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)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	37	c.743G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577538
GLI1	2735	broad.mit.edu	37	12	57859598	57859598	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:57859598C>T	ENST00000228682.2	+	7	743	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	GLI1_ENST00000543426.1_Missense_Mutation_p.R90W|GLI1_ENST00000546141.1_Missense_Mutation_p.R177W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	218					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCTGGATGGGCGGGAGGACCT	0.552																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(652-654)Cgg>Tgg		GLI family zinc finger 1							91.0	91.0	91.0					12																	57859598		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57859598C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.652C>T	12.37:g.57859598C>T	ENSP00000228682:p.Arg218Trp	True	False		Somatic	0				GLI1_ENST00000546141.1_Missense_Mutation_p.R177W|GLI1_ENST00000543426.1_Missense_Mutation_p.R90W	p.R218W	NM_005269.2	NP_005260.1	WXS	Illumina HiSeq	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		7	743	+			218					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.652C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596133	0.66332	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.57;2.49;2.57;2.57	4.45	2.42	0.29668	.	0.000000	0.47093	D	0.000256	T	0.81597	0.4856	L	0.57536	1.79	0.53688	D	0.999972	D	0.89917	1.0	D	0.71414	0.973	D	0.83420	0.0032	10	0.87932	D	0	.	12.4989	0.55944	0.2978:0.7022:0.0:0.0	.	218	P08151	GLI1_HUMAN	W	90;90;218;177;177;90	ENSP00000436671:R90W;ENSP00000437607:R90W;ENSP00000228682:R218W;ENSP00000441006:R177W;ENSP00000434408:R177W	ENSP00000228682:R218W	R	+	1	2	GLI1	56145865	0.984000	0.35163	0.999000	0.59377	0.915000	0.54546	0.836000	0.27545	1.196000	0.43129	0.591000	0.81541	CGG		0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	0	NM_005269		12:57859598
CR2	1380	broad.mit.edu	37	1	207642232	207642232	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:207642232T>A	ENST00000367058.3	+	4	911	c.722T>A	c.(721-723)tTc>tAc	p.F241Y	CR2_ENST00000367057.3_Missense_Mutation_p.F241Y|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.F241Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	241	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCAAACTTTTTCTGTGATGAA	0.433																																						ENST00000367057.3		NA																	0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(721-723)tTc>tAc		complement component (3d/Epstein Barr virus) receptor 2							70.0	66.0	68.0					1																	207642232		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642232T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.722T>A	1.37:g.207642232T>A	ENSP00000356025:p.Phe241Tyr	True	False		Somatic	0				CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000367058.3_Missense_Mutation_p.F241Y	p.F241Y	NM_001006658.2	NP_001006659.1	WXS	Illumina HiSeq	Phase_I	P20023	CR2_HUMAN			4	911	+			241			Sushi 4.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.722T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	7.620	0.676604	0.14841	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	-0.327	0.12694	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46092	0.1375	N	0.11284	0.12	0.09310	N	1	B;P;B	0.40578	0.376;0.722;0.325	B;P;B	0.48921	0.426;0.595;0.3	T	0.37596	-0.9699	9	0.51188	T	0.08	.	3.5273	0.07763	0.3165:0.4366:0.0:0.2469	.	241;241;241	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	241	ENSP00000356025:F241Y;ENSP00000356024:F241Y;ENSP00000356026:F241Y;ENSP00000404222:F241Y	ENSP00000356024:F241Y	F	+	2	0	CR2	205708855	0.003000	0.15002	0.016000	0.15963	0.002000	0.02628	0.038000	0.13862	-0.015000	0.14150	-1.098000	0.02139	TTC		0.433	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	0	NM_001877		1:207642232
SRR	63826	broad.mit.edu	37	17	2224891	2224891	+	Missense_Mutation	SNP	G	G	C	rs141694122	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:2224891G>C	ENST00000344595.5	+	6	893	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	192					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	ATGCTTGCTGGAATAGCAATT	0.403													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17599	0.0		0.001	False		,,,				2504	0.0					ENST00000344595.5		NA																	0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(574-576)gGa>gCa		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G	ALA/GLY	0,4406		0,0,2203	105.0	100.0	102.0		575	5.9	1.0	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRR	NM_021947.1	60	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	192/341	2224891	2,13004	2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224891G>C	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.575G>C	17.37:g.2224891G>C	ENSP00000339435:p.Gly192Ala	False	False		Somatic	0				SRR_ENST00000576848.1_Intron	p.G192A	NM_021947.1	NP_068766.1	WXS	Illumina HiSeq	Phase_I	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	893	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	192					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.575G>C	CCDS11017.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460526	0.84317	0.0	2.33E-4	ENSG00000167720	ENST00000344595	D	0.98419	-4.92	5.95	5.95	0.96441	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98740	1.0716	10	0.87932	D	0	3.4694	19.4464	0.94849	0.0:0.0:1.0:0.0	.	192	Q9GZT4	SRR_HUMAN	A	192	ENSP00000339435:G192A	ENSP00000339435:G192A	G	+	2	0	SRR	2171641	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.265000	0.72534	2.836000	0.97738	0.650000	0.86243	GGA		0.403	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	0	NM_021947		17:2224891
CDC42BPB	9578	broad.mit.edu	37	14	103450025	103450025	+	Silent	SNP	G	G	A	rs369545971		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:103450025G>A	ENST00000361246.2	-	7	1047	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCATGCCGTCCTCCATCG	0.582																																						ENST00000361246.2		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(757-759)gaC>gaT		CDC42 binding protein kinase beta (DMPK-like)		G		1,4405	2.1+/-5.4	0,1,2202	93.0	86.0	88.0		759	-4.4	1.0	14		88	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1712	103450025	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103450025G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.759C>T	14.37:g.103450025G>A		False	False		Somatic	0					p.D253D	NM_006035.3	NP_006026.3	WXS	Illumina HiSeq	Phase_I	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	7	1047	-		Melanoma(154;0.155)	253			Protein kinase.			Silent	SNP	ENST00000361246.2	37	c.759C>T	CCDS9978.1																																																																																				0.582	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	0	NM_006035		14:103450025
PTPRT	11122	broad.mit.edu	37	20	40980846	40980846	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373187.1	-	10	1639	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000373198.4_Missense_Mutation_p.N547S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	547	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGGTTTCATTCCGGAGCTT	0.567																																						ENST00000373198.4		NA																	0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1639-1641)aAt>aGt		protein tyrosine phosphatase, receptor type, T							86.0	92.0	91.0					20																	40980846		1962	4144	6106	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980846T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1640A>G	20.37:g.40980846T>C	ENSP00000362283:p.Asn547Ser	False	False		Somatic	0				PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S	p.N547S	NM_133170.3	NP_573400.3	WXS	Illumina HiSeq	Phase_I	O14522	PTPRT_HUMAN			10	1875	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	NA			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1640A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112398	0.56398	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.093376	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47190	1.495	0.58432	D	0.999992	B;B	0.32893	0.337;0.389	B;B	0.33454	0.102;0.164	T	0.48340	-0.9044	10	0.46703	T	0.11	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	547;547	O14522-1;O14522	.;PTPRT_HUMAN	S	547	ENSP00000362286:N547S;ENSP00000362283:N547S;ENSP00000362289:N547S;ENSP00000348408:N547S;ENSP00000362294:N547S;ENSP00000362280:N547S;ENSP00000362297:N547S	ENSP00000348408:N547S	N	-	2	0	PTPRT	40414260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.310000	0.77875	0.450000	0.29827	AAT		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0			20:40980846
BTN2A3P	54718	broad.mit.edu	37	6	26422349	26422349	+	RNA	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:26422349G>A	ENST00000466808.2	+	0	3							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGGTGCTCATGGAACCAGCTG	0.627																																						ENST00000466808.2		NA																	0					NA															218.0	162.0	181.0					6																	26422349		2203	4300	6503			0							g.chr6:26422349G>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422349G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3	+			NA					A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.627	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	0	NR_027795		6:26422349
HIST1H2BM	8342	broad.mit.edu	37	6	27782982	27782982	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:27782982G>A	ENST00000359465.4	+	1	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CCCGACACCGGCATCTCTTCC	0.542																																						ENST00000359465.4		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(160-162)gGc>gAc		histone cluster 1, H2bm							187.0	177.0	181.0					6																	27782982		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782982G>A	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.161G>A	6.37:g.27782982G>A	ENSP00000352442:p.Gly54Asp	False	False		Somatic	0					p.G54D	NM_003521.2	NP_003512.1	WXS	Illumina HiSeq	Phase_I	Q99879	H2B1M_HUMAN			1	161	+			54					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.161G>A	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332818	0.41297	.	.	ENSG00000196374	ENST00000359465	T	0.69435	-0.4	4.29	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.86648	0.5983	H	0.98487	4.245	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	D	0.91772	0.5428	10	0.87932	D	0	.	16.2598	0.82535	0.0:0.0:1.0:0.0	.	54	Q99879	H2B1M_HUMAN	D	54	ENSP00000352442:G54D	ENSP00000352442:G54D	G	+	2	0	HIST1H2BM	27890961	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.147000	0.94646	2.373000	0.80994	0.563000	0.77884	GGC		0.542	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	0	NM_003521		6:27782982
MDN1	23195	broad.mit.edu	37	6	90372687	90372687	+	Splice_Site	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:90372687C>A	ENST00000369393.3	-	86	14352		c.e86-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCCTCTTCTGAAAGGGAA	0.512																																						ENST00000369393.3		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e86-1		MDN1, midasin homolog (yeast)							156.0	141.0	146.0					6																	90372687		2203	4300	6503	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90372687C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14237-1G>T	6.37:g.90372687C>A		False	False		Somatic	0				MDN1_ENST00000428876.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14352	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	NA					O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787806	0.70337	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7756	0.69729	0.0:0.8547:0.1453:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90429408	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.378000	0.44309	2.731000	0.93534	0.655000	0.94253	.		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0		Intron	6:90372687
TNKS1BP1	85456	broad.mit.edu	37	11	57076139	57076139	+	Missense_Mutation	SNP	G	G	A	rs143761660		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57076139G>A	ENST00000532437.1	-	5	4357	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1349	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTCTGGGGCGCCAAGTCCTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16253	0.0		0.001	False		,,,				2504	0.0					ENST00000532437.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4045-4047)gCg>gTg		tankyrase 1 binding protein 1, 182kDa		G	VAL/ALA	0,4402		0,0,2201	89.0	98.0	95.0		4046	2.1	0.0	11	dbSNP_134	95	5,8587	3.7+/-12.6	0,5,4291	yes	missense	TNKS1BP1	NM_033396.2	64	0,5,6492	AA,AG,GG		0.0582,0.0,0.0385	benign	1349/1730	57076139	5,12989	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076139G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4046C>T	11.37:g.57076139G>A	ENSP00000437271:p.Ala1349Val	False	False		Somatic	0				TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V	p.A1349V			WXS	Illumina HiSeq	Phase_I	Q9C0C2	TB182_HUMAN			5	4357	-		all_epithelial(135;0.21)	1349			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4046C>T	CCDS7951.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.089	0.571853	0.13623	0.0	5.82E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30981	1.51;1.51	5.08	2.14	0.27477	.	0.362114	0.23530	N	0.047188	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.30193	0.272	B	0.17979	0.02	T	0.16335	-1.0406	10	0.37606	T	0.19	-5.0064	7.4646	0.27314	0.0:0.5833:0.3269:0.0898	.	1349	Q9C0C2	TB182_HUMAN	V	1349	ENSP00000350990:A1349V;ENSP00000437271:A1349V	ENSP00000350990:A1349V	A	-	2	0	TNKS1BP1	56832715	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.214000	0.17541	0.174000	0.19809	-0.539000	0.04255	GCG		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	0	NM_033396		11:57076139
KMT2B	9757	broad.mit.edu	37	19	36221301	36221301	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:36221301G>A	ENST00000222270.7	+	24	5135	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.G1712D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1712					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GACTTCGAGGGCATCAACTTC	0.557																																						ENST00000420124.1		NA																	0					NA						c.(5134-5136)gGc>gAc		lysine (K)-specific methyltransferase 2B							277.0	290.0	285.0					19																	36221301		2090	4218	6308	SO:0001583	missense	9757							g.chr19:36221301G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5135G>A	19.37:g.36221301G>A	ENSP00000222270:p.Gly1712Asp	True	False		Somatic	0				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.G1712D	p.G1712D			WXS	Illumina HiSeq	Phase_I					24	5135	+			NA					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5135G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818990	0.71028	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85556	-2.0;-2.0	5.42	5.42	0.78866	.	0.000000	0.45867	D	0.000337	D	0.89996	0.6877	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89140	0.3516	10	0.41790	T	0.15	.	17.9877	0.89159	0.0:0.0:1.0:0.0	.	1712	Q9UMN6	MLL4_HUMAN	D	1712	ENSP00000222270:G1712D;ENSP00000398837:G1712D	ENSP00000222270:G1712D	G	+	2	0	AD000671.1	40913141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.762000	0.98944	2.551000	0.86045	0.563000	0.77884	GGC		0.557	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014727		19:36221301
ACKR3	57007	broad.mit.edu	37	2	237489775	237489775	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:237489775G>A	ENST00000272928.3	+	2	977	c.667G>A	c.(667-669)Gtt>Att	p.V223I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	223					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GGGCTTTGCCGTTCCCTTCTC	0.567																																						ENST00000272928.3		NA																	0					NA						c.(667-669)Gtt>Att		atypical chemokine receptor 3							120.0	101.0	108.0					2																	237489775		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489775G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.667G>A	2.37:g.237489775G>A	ENSP00000272928:p.Val223Ile	False	False		Somatic	0					p.V223I	NM_020311.2	NP_064707.1	WXS	Illumina HiSeq	Phase_I					2	977	+			NA					A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.667G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.085927	0.00371	.	.	ENSG00000144476	ENST00000272928	T	0.35236	1.32	5.7	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	0.187304	0.44285	N	0.000467	T	0.09335	0.0230	N	0.01284	-0.91	0.21553	N	0.999647	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	9	.	.	.	.	6.4353	0.21819	0.5745:0.1246:0.3009:0.0	.	223	P25106	CXCR7_HUMAN	I	223	ENSP00000272928:V223I	.	V	+	1	0	CXCR7	237154514	0.013000	0.17824	0.000000	0.03702	0.006000	0.05464	0.344000	0.19962	-0.397000	0.07691	0.655000	0.94253	GTT		0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	0	NM_020311		2:237489775
ARAP1	116985	broad.mit.edu	37	11	72406856	72406856	+	Silent	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:72406856C>G	ENST00000393609.3	-	24	3529	c.3327G>C	c.(3325-3327)gtG>gtC	p.V1109V	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000359373.5_Silent_p.V1109V|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1109	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGCCCAAACACAATTGCCA	0.552																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5		NA																	0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3325-3327)gtG>gtC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							124.0	91.0	102.0					11																	72406856		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406856C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3327G>C	11.37:g.72406856C>G		True	False		Somatic	0				ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000393609.3_Silent_p.V1109V|ARAP1_ENST00000393605.3_Silent_p.V869V	p.V1109V			WXS	Illumina HiSeq	Phase_I	Q96P48	ARAP1_HUMAN			24	4178	-			1109			Rho-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.3327G>C	CCDS41687.1																																																																																				0.552	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	0	NM_001040118		11:72406856
TRIO	7204	broad.mit.edu	37	5	14369548	14369548	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:14369548G>A	ENST00000344204.4	+	18	3156	c.3132G>A	c.(3130-3132)gcG>gcA	p.A1044A	TRIO_ENST00000509967.2_Silent_p.A995A|TRIO_ENST00000537187.1_Silent_p.A1044A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1044					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGCGGGGCGGATAAGCTGG	0.587																																						ENST00000344204.4		NA																	0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3130-3132)gcG>gcA		trio Rho guanine nucleotide exchange factor							87.0	88.0	87.0					5																	14369548		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14369548G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3132G>A	5.37:g.14369548G>A		True	False		Somatic	0				TRIO_ENST00000537187.1_Silent_p.A1044A|TRIO_ENST00000509967.2_Silent_p.A995A	p.A1044A	NM_007118.2	NP_009049.2	WXS	Illumina HiSeq	Phase_I	O75962	TRIO_HUMAN			18	3156	+	Lung NSC(4;0.000742)		1044					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3132G>A	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	NM_007118		5:14369548
BCL6B	255877	broad.mit.edu	37	17	6927434	6927434	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:6927434C>T	ENST00000293805.5	+	3	304	c.212C>T	c.(211-213)gCg>gTg	p.A71V	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	71	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CGGGGCCGTGCGGGAGTCGGG	0.597																																						ENST00000293805.5		NA																	0				skin(1)	1						c.(211-213)gCg>gTg		B-cell CLL/lymphoma 6, member B							78.0	90.0	87.0					17																	6927434		1904	4109	6013	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927434C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.212C>T	17.37:g.6927434C>T	ENSP00000293805:p.Ala71Val	True	False		Somatic	0				BCL6B_ENST00000572216.1_Intron	p.A71V	NM_181844.3	NP_862827	WXS	Illumina HiSeq	Phase_I	Q8N143	BCL6B_HUMAN			3	304	+			71			BTB.		Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.212C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729881	0.48833	.	.	ENSG00000161940	ENST00000293805	T	0.70282	-0.47	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.483098	0.22285	N	0.062075	T	0.50956	0.1646	N	0.16166	0.38	0.31830	N	0.624817	B	0.26672	0.156	B	0.16722	0.016	T	0.58589	-0.7610	10	0.56958	D	0.05	.	9.3794	0.38304	0.0:0.9052:0.0:0.0948	.	71	Q8N143	BCL6B_HUMAN	V	71	ENSP00000293805:A71V	ENSP00000293805:A71V	A	+	2	0	BCL6B	6868158	0.158000	0.22850	0.998000	0.56505	0.993000	0.82548	0.297000	0.19101	2.635000	0.89317	0.563000	0.77884	GCG		0.597	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	0	NM_181844		17:6927434
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488																																						ENST00000342988.3		NA																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.E520*(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1558-1560)Gaa>Taa		SMAD family member 4							98.0	94.0	96.0					18																	48604736		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604736G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1558G>T	18.37:g.48604736G>T	ENSP00000341551:p.Glu520*	True	False		Somatic	0				SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*	p.E520*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2096	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	520			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1558G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48604736
NCOA6	23054	broad.mit.edu	37	20	33345146	33345146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:33345146G>A	ENST00000374796.2	-	8	3975	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	469	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGACAGGCTGCTGAAATCCC	0.557																																						ENST00000374796.2		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1405-1407)Cag>Tag		nuclear receptor coactivator 6							118.0	121.0	120.0					20																	33345146		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345146G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1405C>T	20.37:g.33345146G>A	ENSP00000363929:p.Gln469*	False	False		Somatic	0				NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*	p.Q469*			WXS	Illumina HiSeq	Phase_I	Q14686	NCOA6_HUMAN			8	3975	-			469			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.1405C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	55	23.676371	0.99956	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.9148	19.8745	0.96864	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000351894:Q469X	Q	-	1	0	NCOA6	32808807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.229000	0.95273	2.704000	0.92352	0.467000	0.42956	CAG		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	0	NM_014071		20:33345146
PCDHB8	56128	broad.mit.edu	37	5	140558166	140558166	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140558166G>A	ENST00000239444.2	+	1	796	c.551G>A	c.(550-552)cGc>cAc	p.R184H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	184	Cadherin 2. {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)	p.R184H(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTCACCCGCAAACGCAGT	0.483																																						ENST00000239444.2		NA																	1	Substitution - Missense(1)	p.R184H(1)	kidney(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(550-552)cGc>cAc									38.0	59.0	52.0					5																	140558166		2200	4297	6497	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558166G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.551G>A	5.37:g.140558166G>A	ENSP00000239444:p.Arg184His	True	False		Somatic	0					p.R184H	NM_019120.3	NP_061993.2	WXS	Illumina HiSeq	Phase_I	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	796	+			184			Cadherin 2.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.551G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	7.040	0.562271	0.13498	.	.	ENSG00000120322	ENST00000239444	T	0.20598	2.06	4.25	3.38	0.38709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15478	0.0373	L	0.39514	1.22	0.09310	N	1	B	0.24258	0.1	B	0.24269	0.052	T	0.25882	-1.0119	9	0.30854	T	0.27	.	4.629	0.12491	0.1865:0.0:0.6385:0.175	.	184	Q9UN66	PCDB8_HUMAN	H	184	ENSP00000239444:R184H	ENSP00000239444:R184H	R	+	2	0	PCDHB8	140538350	0.000000	0.05858	0.120000	0.21714	0.898000	0.52572	0.457000	0.21875	0.778000	0.33520	-0.225000	0.12378	CGC		0.483	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	NM_019120		5:140558166
