#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
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs530882053|rs139266211	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA|ESPN_ENST00000416731.1_5'Flank|ESPN_ENST00000461727.1_5'Flank	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65																																						ENST00000377828.1		NA																	0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca		espin																																				SO:0001651	inframe_deletion	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	1.37:g.6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENSP00000367059:p.Pro430_Pro450del	True	False		Somatic	1				RP1-202O8.2_ENST00000419034.1_RNA	p.PPPPPPSFPPPPPPPGTQLPP430del	NM_031475.2	NP_113663.2	WXS	Illumina HiSeq	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	7	1454_1516	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	430			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	In_Frame_Del	DEL	ENST00000377828.1	37	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CCDS70.1																																																																																				0.650	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	0	NM_031475		1:6505817
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
TP53	7157	broad.mit.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-	rs587780067		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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		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"""		23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(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	CM065494	TP53	M		c.(364-366)gtgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7579321_7579322delCA	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs	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	2				TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs	p.V122fs	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)	4	497_498	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.365_366delTG	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579321
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs368479035|rs200935003|rs200113657|rs532535358|rs349782	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	-	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.66														90	0.0179712	0.0038	0.0202	5008	,	,		17196	0.0308		0.0288	False		,,,				2504	0.0112					ENST00000394015.2		NA																	0				skin(1)	1						c.(325-339)tgccggcccccctgcdel		keratin associated protein 2-4				32,2788		10,12,1388						4.5	1.0			17	146,5894		14,118,2888	no	coding	KRTAP2-4	NM_033184.3		24,130,4276	A1A1,A1R,RR		2.4172,1.1348,2.009				178,8682				SO:0001651	inframe_deletion	85294					keratin filament		g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.325_339delTGCCGGCCCCCCTGC	17.37:g.39221759_39221773delGCAGGGGGGCCGGCA	ENSP00000377583:p.Cys109_Cys113del	True	False		Somatic	1					p.CRPPC109del	NM_033184.3	NP_149440.1	WXS	Illumina HiSeq	Phase_I	Q9BYR9	KRA24_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	358_372	-		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	109			10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].		Q495J2	In_Frame_Del	DEL	ENST00000394015.2	37	c.325_339delTGCCGGCCCCCCTGC	CCDS32648.1																																																																																				0.660	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257698.1	0	NM_033184		17:39221759
CXorf56	63932	broad.mit.edu	37	X	118678401	118678405	+	Frame_Shift_Del	DEL	AAGGT	AAGGT	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	AAGGT	AAGGT	-	-	AAGGT	AAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:118678401_118678405delAAGGT	ENST00000371594.4	-	4	412_416	c.334_338delACCTT	c.(334-339)accttcfs	p.TF112fs	CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000469448.1_5'Flank|CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	112										cervix(1)|endometrium(2)|lung(7)	10						ATCCACAATGAAGGTAACAGGAGCA	0.444																																						ENST00000320339.4		NA																	0				cervix(1)|endometrium(2)|lung(7)	10						c.(187-192)accttcfs		chromosome X open reading frame 56																																				SO:0001589	frameshift_variant	63932						protein binding	g.chrX:118678401_118678405delAAGGT	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.334_338delACCTT	X.37:g.118678401_118678405delAAGGT	ENSP00000360652:p.Thr112fs	False	False		Somatic	1				CXorf56_ENST00000476164.1_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000371594.4_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000486230.1_Frame_Shift_Del_p.TF112fs	p.TF63fs	NM_001170569.1	NP_001164040.1	WXS	Illumina HiSeq	Phase_I	Q9H5V9	CX056_HUMAN			4	458_462	-			112					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Frame_Shift_Del	DEL	ENST00000371594.4	37	c.187_191delACCTT	CCDS14579.1																																																																																				0.444	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_022101		X:118678401
SKIL	6498	broad.mit.edu	37	3	170078560	170078561	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:170078560_170078561delTG	ENST00000458537.3	+	1	1150_1151	c.441_442delTG	c.(439-444)actgtgfs	p.V148fs	SKIL_ENST00000259119.4_Frame_Shift_Del_p.V148fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.V148fs|SKIL_ENST00000426052.2_Frame_Shift_Del_p.V128fs	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	148					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCACTCAGACTGTGTTGGAAGG	0.45																																						ENST00000426052.2		NA																	0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(379-384)actgtgfs		SKI-like oncogene																																				SO:0001589	frameshift_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078560_170078561delTG	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.441_442delTG	3.37:g.170078562_170078563delTG	ENSP00000415243:p.Val148fs	False	False		Somatic	2				SKIL_ENST00000458537.3_Frame_Shift_Del_p.V148fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.V148fs|SKIL_ENST00000259119.4_Frame_Shift_Del_p.V148fs	p.V128fs	NM_001145098.2	NP_001138570.1	WXS	Illumina HiSeq	Phase_I	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	613_614	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		148					A6NGT1|B4DT50|O00464|P12756|Q07501	Frame_Shift_Del	DEL	ENST00000458537.3	37	c.381_382delTG	CCDS33890.1																																																																																				0.450	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	0	NM_005414		3:170078560
SYNE1	23345	broad.mit.edu	37	6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCCTGCGCGATCTGCTGC	0.557										HNSCC(10;0.0054)																												ENST00000367255.5		NA																	0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3889-3891)Gcg>Acg		spectrin repeat containing, nuclear envelope 1							79.0	70.0	73.0					6																	152763329		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763329C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3889G>A	6.37:g.152763329C>T	ENSP00000356224:p.Ala1297Thr	False	False	HNSCC(10;0.0054)	Somatic	0				SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T	p.A1297T	NM_182961.3	NP_892006.3	WXS	Illumina HiSeq	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4490	-		Ovarian(120;0.0955)	1297					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3889G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	c	0.960	-0.703603	0.03255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87334	0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24	5.41	2.71	0.32032	.	1.087730	0.07067	N	0.834808	T	0.59432	0.2193	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.003;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.002;0.0;0.002	T	0.47381	-0.9122	10	0.19147	T	0.46	.	5.2817	0.15678	0.1385:0.5754:0.0:0.2861	.	1280;1297;1287;1297;1297;1304	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1297;1304;1297;1304;1363;1297;1287;1297	ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T	ENSP00000265368:A1297T	A	-	1	0	SYNE1	152805022	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.645000	0.24782	0.367000	0.24454	-0.127000	0.14921	GCG		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	NM_182961		6:152763329
BLZF1	8548	broad.mit.edu	37	1	169349763	169349763	+	Missense_Mutation	SNP	G	G	A	rs562436533		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169349763G>A	ENST00000367808.3	+	5	1136	c.713G>A	c.(712-714)cGt>cAt	p.R238H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	238					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCTTTACAGCGTCAAAACCGT	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.0					ENST00000367808.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(712-714)cGt>cAt		basic leucine zipper nuclear factor 1							132.0	111.0	118.0					1																	169349763		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169349763G>A	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.713G>A	1.37:g.169349763G>A	ENSP00000356782:p.Arg238His	False	False		Somatic	0				BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H	p.R238H			WXS	Illumina HiSeq	Phase_I	Q9H2G9	GO45_HUMAN			5	1136	+	all_hematologic(923;0.208)		238					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.713G>A	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828201	0.71143	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.13307	2.6;2.6;2.6	5.52	4.59	0.56863	.	0.116880	0.53938	D	0.000046	T	0.07369	0.0186	M	0.61703	1.905	0.46981	D	0.999278	B;B	0.32160	0.358;0.358	B;B	0.23018	0.043;0.043	T	0.05937	-1.0855	9	0.51188	T	0.08	-24.7466	14.7107	0.69229	0.0707:0.0:0.9293:0.0	.	238;238	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	238	ENSP00000356782:R238H;ENSP00000327541:R238H;ENSP00000404408:R238H	ENSP00000327541:R238H	R	+	2	0	BLZF1	167616387	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.162000	0.71874	1.293000	0.44690	0.637000	0.83480	CGT		0.383	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	0	NM_003666		1:169349763
ASPM	259266	broad.mit.edu	37	1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGCTTGGGTACGCACTGCA	0.368																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7996-7998)Acc>Gcc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							62.0	56.0	58.0					1																	197070385		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070385T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7996A>G	1.37:g.197070385T>C	ENSP00000356379:p.Thr2666Ala	True	False		Somatic	0				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.T2666A	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			18	8252	-			2666			IQ 29.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7996A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297929	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71461	-0.57	4.87	2.43	0.29744	.	0.323751	0.26478	N	0.024158	T	0.67859	0.2938	L	0.38838	1.175	0.21473	N	0.999675	P;P	0.51933	0.949;0.587	D;B	0.65987	0.94;0.241	T	0.55289	-0.8164	10	0.22109	T	0.4	.	1.899	0.03264	0.1319:0.1509:0.1367:0.5805	.	652;2666	E7EQ84;Q8IZT6	.;ASPM_HUMAN	A	2666;652	ENSP00000356379:T2666A	ENSP00000356376:T652A	T	-	1	0	ASPM	195337008	0.001000	0.12720	0.197000	0.23402	0.500000	0.33767	0.732000	0.26072	0.259000	0.21709	0.455000	0.32223	ACC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197070385
REV3L	5980	broad.mit.edu	37	6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000358835.3	-	14	6169	c.5715G>C	c.(5713-5715)caG>caC	p.Q1905H	REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATGGTTCCTGGTAAATAG	0.383								DNA polymerases (catalytic subunits)																														ENST00000435970.1		NA																	0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5479-5481)caG>caC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							108.0	114.0	112.0					6																	111693843		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693843C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5715G>C	6.37:g.111693843C>G	ENSP00000351697:p.Gln1905His	False	False		Somatic	0				REV3L_ENST00000358835.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H	p.Q1827H			WXS	Illumina HiSeq	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6297	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1905					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5481G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209683	0.39003	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	1.84	0.25277	Ribonuclease H-like (1);	0.147380	0.49916	D	0.000123	T	0.60637	0.2284	M	0.81341	2.54	0.35196	D	0.773874	D	0.89917	1.0	D	0.83275	0.996	T	0.66069	-0.6015	10	0.87932	D	0	-2.7769	9.4873	0.38937	0.0:0.5989:0.0:0.4011	.	1905	O60673	DPOLZ_HUMAN	H	1905;1905;1905;1827	ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H	ENSP00000351697:Q1905H	Q	-	3	2	REV3L	111800536	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.348000	0.20031	0.459000	0.27016	-0.140000	0.14226	CAG		0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	0	NM_002912		6:111693843
DMD	1756	broad.mit.edu	37	X	32503058	32503058	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTCTGGCCTGCACAT	0.408																																						ENST00000357033.4		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2779-2781)gcC>gcT		dystrophin							120.0	103.0	108.0					X																	32503058		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32503058G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2781C>T	X.37:g.32503058G>A		True	False		Somatic	0				DMD_ENST00000378677.2_Silent_p.A923A	p.A927A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina HiSeq	Phase_I	P11532	DMD_HUMAN			21	2987	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	927					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2781C>T	CCDS14233.1																																																																																				0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	NM_004006		X:32503058
MUC17	140453	broad.mit.edu	37	7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGTCCCCACGAATACTACA	0.478																																						ENST00000306151.4		NA																	0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12343-12345)aCg>aTg		mucin 17, cell surface associated							135.0	141.0	139.0					7																	100687041		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687041C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12344C>T	7.37:g.100687041C>T	ENSP00000302716:p.Thr4115Met	False	False		Somatic	0					p.T4115M	NM_001040105.1	NP_001035194.1	WXS	Illumina HiSeq	Phase_I	Q685J3	MUC17_HUMAN			3	12408	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4115					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12344C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	MUC17	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	NM_001040105		7:100687041
MUC16	94025	broad.mit.edu	37	19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCTGCTGGTCTTTCTCAG	0.527																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24376-24378)aCc>aTc		mucin 16, cell surface associated							129.0	125.0	126.0					19																	9063069		2006	4173	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063069G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24377C>T	19.37:g.9063069G>A	ENSP00000381008:p.Thr8126Ile	False	False		Somatic	0					p.T8126I	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	24580	-			8128			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24377C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227444	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.09	2.02	0.26589	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	.	.	.	P	0.36837	0.571	B	0.37047	0.24	T	0.28073	-1.0055	8	0.87932	D	0	.	7.2133	0.25945	0.0:0.0:0.7105:0.2894	.	8126	B5ME49	.	I	8126	ENSP00000381008:T8126I	ENSP00000381008:T8126I	T	-	2	0	MUC16	8924069	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.336000	0.07863	0.827000	0.34685	0.508000	0.49915	ACC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9063069
TGFBR2	7048	broad.mit.edu	37	3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACGACCCAGAGGCCCGTCTC	0.597																																						ENST00000295754.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1576-1578)gAg>gTg		transforming growth factor, beta receptor II (70/80kDa)							71.0	65.0	67.0					3																	30732964		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732964A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1577A>T	3.37:g.30732964A>T	ENSP00000295754:p.Glu526Val	False	False		Somatic	0				TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	p.E526V	NM_003242.5	NP_003233.4	WXS	Illumina HiSeq	Phase_I	P37173	TGFR2_HUMAN			7	1959	+			526		E -> Q (in esophageal cancer).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1577A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007072	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66995	-0.24;-0.24	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83188	-0.0085	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	V	526;551;356	ENSP00000295754:E526V;ENSP00000351905:E551V	ENSP00000295754:E526V	E	+	2	0	TGFBR2	30707968	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	GAG		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0			3:30732964
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGATCTCATCGTGGACATCA	0.597																																						ENST00000583023.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(916-918)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						227.0	194.0	205.0					17																	61611489		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611489C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.918C>T	17.37:g.61611489C>T		False	False		Somatic	0				KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	p.I306I	NM_030779.2	NP_110406.1	WXS	Illumina HiSeq	Phase_I	Q9H252	KCNH6_HUMAN			5	929	+			306					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.918C>T	CCDS11638.1																																																																																				0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	0	NM_030779		17:61611489
ZNF382	84911	broad.mit.edu	37	19	37117303	37117303	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000292928.2	+	5	617	c.504G>A	c.(502-504)gaG>gaA	p.E168E	ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000423582.1_Silent_p.E119E|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Silent_p.E167E	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription. {ECO:0000250}.		E -> G (in dbSNP:rs3108171). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGATGGGAGAAATCACTCC	0.358																																						ENST00000435416.1		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(499-501)gaG>gaA		zinc finger protein 382							104.0	112.0	109.0					19																	37117303		2201	4300	6501	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117303G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.504G>A	19.37:g.37117303G>A		True	False		Somatic	0				ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000423582.1_Silent_p.E119E	p.E167E			WXS	Illumina HiSeq	Phase_I	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1996	+	Esophageal squamous(110;0.198)		168			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.501G>A	CCDS33004.1																																																																																				0.358	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	0	NM_032825		19:37117303
CCDC150	284992	broad.mit.edu	37	2	197521440	197521440	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:197521440C>T	ENST00000389175.4	+	3	395	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	87										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAATTTGTGCAGGAAAAACA	0.418																																						ENST00000389175.4		NA																	0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(259-261)gCa>gTa		coiled-coil domain containing 150							90.0	86.0	88.0					2																	197521440		1824	4083	5907	SO:0001583	missense	284992							g.chr2:197521440C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.260C>T	2.37:g.197521440C>T	ENSP00000373827:p.Ala87Val	False	False		Somatic	0				CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	p.A87V	NM_001080539.1	NP_001074008.1	WXS	Illumina HiSeq	Phase_I	Q8NCX0	CC150_HUMAN			3	395	+			87					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.260C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405270	0.25378	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30182	1.54	5.03	4.08	0.47627	.	1.321280	0.05387	N	0.538316	T	0.16471	0.0396	N	0.04508	-0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.19877	-1.0292	10	0.29301	T	0.29	-0.076	7.9712	0.30127	0.0:0.7363:0.1675:0.0962	.	87;87	Q8NCX0;F5H6M2	CC150_HUMAN;.	V	87	ENSP00000373827:A87V	ENSP00000373827:A87V	A	+	2	0	CCDC150	197229685	0.021000	0.18746	0.998000	0.56505	0.722000	0.41435	-0.006000	0.12833	2.632000	0.89209	0.655000	0.94253	GCA		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	0	NM_001080539		2:197521440
ARSF	416	broad.mit.edu	37	X	3002668	3002668	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACGAGCTGGATCCATTATG	0.448																																						ENST00000381127.1		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(790-792)gGa>gTa		arylsulfatase F							58.0	51.0	53.0					X																	3002668		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002668G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.791G>T	X.37:g.3002668G>T	ENSP00000370519:p.Gly264Val	False	False		Somatic	0				ARSF_ENST00000537104.1_Missense_Mutation_p.G264V|ARSF_ENST00000359361.2_Missense_Mutation_p.G264V	p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina HiSeq	Phase_I	P54793	ARSF_HUMAN			6	1012	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	264					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.791G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075973	0.08485	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98474	-4.95;-4.95;-4.95	2.99	2.99	0.34606	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279575	0.32987	U	0.005404	D	0.95401	0.8507	N	0.11870	0.19	0.09310	N	1	B	0.22851	0.076	B	0.40329	0.326	D	0.91487	0.5209	10	0.62326	D	0.03	.	9.713	0.40256	0.0:0.4614:0.5386:0.0	.	264	P54793	ARSF_HUMAN	V	264	ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V	ENSP00000352319:G264V	G	+	2	0	ARSF	3012668	0.001000	0.12720	0.292000	0.24919	0.582000	0.36321	0.559000	0.23485	1.099000	0.41499	0.534000	0.68092	GGA		0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1	0			X:3002668
PCDH17	27253	broad.mit.edu	37	13	58208067	58208067	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:58208067C>G	ENST00000377918.3	+	1	1413	c.1387C>G	c.(1387-1389)Cta>Gta	p.L463V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	463	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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCAAGATTCTAGACGAGAA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1387-1389)Cta>Gta		protocadherin 17							53.0	44.0	47.0					13																	58208067		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208067C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1387C>G	13.37:g.58208067C>G	ENSP00000367151:p.Leu463Val	False	False		Somatic	0					p.L463V	NM_001040429.2	NP_001035519.1	WXS	Illumina HiSeq	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1413	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	463			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1387C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824594	0.50739	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	4.74	0.60224	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.45470	1.425	0.48452	D	0.999652	P;P	0.50819	0.925;0.939	P;P	0.57720	0.734;0.826	T	0.56637	-0.7946	9	.	.	.	.	10.6669	0.45736	0.0:0.854:0.0:0.146	.	463;463	O14917-2;O14917	.;PCD17_HUMAN	V	463	ENSP00000367151:L463V	.	L	+	1	2	PCDH17	57106068	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	2.537000	0.45702	1.378000	0.46305	0.561000	0.74099	CTA		0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	NM_001040429		13:58208067
IGHV3-9	28451	broad.mit.edu	37	14	106552400	106552400	+	RNA	SNP	G	G	A	rs587692328	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr14:106552400G>A	ENST00000390600.2	-	0	318									immunoglobulin heavy variable 3-9																		CACAGAGTCCGCATAGCCTAT	0.522																																						ENST00000390600.2		NA																	0					NA															125.0	97.0	107.0					14																	106552400		1850	3445	5295			0							g.chr14:106552400G>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552400G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	318	-			NA						RNA	SNP	ENST00000390600.2	37																																																																																						0.522	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	0	NG_001019		14:106552400
PRPS1L1	221823	broad.mit.edu	37	7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502																																						ENST00000506618.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(124-126)Gtg>Atg		phosphoribosyl pyrophosphate synthetase 1-like 1							269.0	264.0	266.0					7																	18067282		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067282C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.124G>A	7.37:g.18067282C>T	ENSP00000424595:p.Val42Met	False	False		Somatic	0					p.V42M	NM_175886.2	NP_787082.1	WXS	Illumina HiSeq	Phase_I	P21108	PRPS3_HUMAN			1	204	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		42					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.124G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066850	0.76301	.	.	ENSG00000229937	ENST00000506618	D	0.93019	-3.15	4.27	4.27	0.50696	.	.	.	.	.	D	0.97629	0.9223	H	0.96547	3.84	.	.	.	D	0.89917	1.0	D	0.78314	0.991	D	0.98556	1.0639	8	0.87932	D	0	.	14.5862	0.68326	0.0:1.0:0.0:0.0	.	42	P21108	PRPS3_HUMAN	M	42	ENSP00000424595:V42M	ENSP00000424595:V42M	V	-	1	0	PRPS1L1	18033807	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	5.366000	0.66122	2.375000	0.81037	0.555000	0.69702	GTG		0.502	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	0	NM_175886		7:18067282
ZNF558	148156	broad.mit.edu	37	19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448																																						ENST00000601372.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(871-873)Cct>Tct		zinc finger protein 558							125.0	119.0	121.0					19																	8922295		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922295G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.871C>T	19.37:g.8922295G>A	ENSP00000471277:p.Pro291Ser	True	False		Somatic	0				ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S	p.P291S			WXS	Illumina HiSeq	Phase_I	Q96NG5	ZN558_HUMAN			10	1582	-			291					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.871C>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458995	0.84317	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16743	2.32;2.32	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000595	T	0.38532	0.1044	L	0.60904	1.88	0.47214	D	0.999359	D	0.89917	1.0	D	0.72338	0.977	T	0.09487	-1.0672	10	0.87932	D	0	-15.4151	15.9729	0.80034	0.0:0.0:1.0:0.0	.	291	Q96NG5	ZN558_HUMAN	S	291;220	ENSP00000301475:P291S;ENSP00000410703:P220S	ENSP00000301475:P291S	P	-	1	0	ZNF558	8783295	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	8.818000	0.91991	2.636000	0.89361	0.591000	0.81541	CCT		0.448	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	0	NM_144693		19:8922295
LDB2	9079	broad.mit.edu	37	4	16504390	16504390	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:16504390C>T	ENST00000304523.5	-	8	1321	c.998G>A	c.(997-999)gGc>gAc	p.G333D	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	333	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTCGTCCATGCCGTTGGCCGC	0.522																																						ENST00000304523.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(997-999)gGc>gAc		LIM domain binding 2							239.0	211.0	221.0					4																	16504390		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504390C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.998G>A	4.37:g.16504390C>T	ENSP00000306772:p.Gly333Asp	False	False		Somatic	0				RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D|LDB2_ENST00000441778.2_3'UTR	p.G333D	NM_001290.3	NP_001281.1	WXS	Illumina HiSeq	Phase_I	O43679	LDB2_HUMAN			8	1321	-			333			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.998G>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.144434|4.144434	0.77888|0.77888	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.23348	.|1.91;1.91	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.52933|0.52933	0.1765|0.1765	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.995;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.992;0.945;0.998;0.999	T|T	0.49579|0.49579	-0.8925|-0.8925	5|10	.|0.41790	.|T	.|0.15	-15.8004|-15.8004	18.3199|18.3199	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|297;331;333;307	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	T|D	254|331;333	.|ENSP00000422552:G331D;ENSP00000306772:G333D	.|ENSP00000306772:G333D	A|G	-|-	1|2	0|0	LDB2|LDB2	16113488|16113488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.522	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2	0			4:16504390
OR7D4	125958	broad.mit.edu	37	19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488																																						ENST00000308682.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(277-279)tCc>tTc		olfactory receptor, family 7, subfamily D, member 4							82.0	73.0	76.0					19																	9325236		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325236G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.278C>T	19.37:g.9325236G>A	ENSP00000310488:p.Ser93Phe	False	False		Somatic	0					p.S93F	NM_001005191.2	NP_001005191.1	WXS	Illumina HiSeq	Phase_I	Q8NG98	OR7D4_HUMAN			1	306	-			93					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.278C>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350572	0.24512	.	.	ENSG00000174667	ENST00000308682	T	0.00745	5.75	3.86	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.344022	0.25397	N	0.030975	T	0.04003	0.0112	M	0.94142	3.5	0.09310	N	1	P	0.52316	0.952	P	0.55667	0.781	T	0.07158	-1.0787	10	0.87932	D	0	.	8.2914	0.31960	0.0976:0.1631:0.7393:0.0	.	93	Q8NG98	OR7D4_HUMAN	F	93	ENSP00000310488:S93F	ENSP00000310488:S93F	S	-	2	0	OR7D4	9186236	0.075000	0.21258	0.020000	0.16555	0.086000	0.17979	2.488000	0.45276	0.951000	0.37770	0.436000	0.28706	TCC		0.488	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0			19:9325236
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:77896690T>A	ENST00000262198.4	+	4	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303																																						ENST00000262198.4		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3394-3396)Taa>Aaa		ADNP homeobox 2							9.0	9.0	9.0					18																	77896690		1999	4153	6152	SO:0001578	stop_lost	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896690T>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3394T>A	18.37:g.77896690T>A	ENSP00000262198:p.*1132Lysext*12	True	False		Somatic	0					p.*1132K	NM_014913.3	NP_055728.1	WXS	Illumina HiSeq	Phase_I	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3849	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	0					A8K951|O94943|Q9H9P3	Nonstop_Mutation	SNP	ENST00000262198.4	37	c.3394T>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.175421	0.01646	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.43	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8593	0.18736	0.0:0.2467:0.4957:0.2576	.	.	.	.	K	1132	.	.	X	+	1	0	ADNP2	75997681	0.028000	0.19301	0.887000	0.34795	0.103000	0.19146	-0.208000	0.09371	0.109000	0.17891	-0.366000	0.07423	TAA		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	0	NM_014913		18:77896690
PLEKHM2	23207	broad.mit.edu	37	1	16056392	16056392	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:16056392G>A	ENST00000375799.3	+	14	2403	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	726					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCTGGCACTGGCCAAATTTGT	0.557																																						ENST00000375799.3		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2176-2178)Gcc>Acc		pleckstrin homology domain containing, family M (with RUN domain) member 2							64.0	68.0	66.0					1																	16056392		2037	4193	6230	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16056392G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2176G>A	1.37:g.16056392G>A	ENSP00000364956:p.Ala726Thr	False	False		Somatic	0				RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|PLEKHM2_ENST00000477849.1_3'UTR	p.A726T	NM_015164.2	NP_055979.2	WXS	Illumina HiSeq	Phase_I	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2403	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	726					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2176G>A	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872165	0.33069	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.47	5.47	0.80525	.	0.054388	0.64402	D	0.000001	T	0.29288	0.0729	N	0.12182	0.205	0.48040	D	0.999579	B	0.26902	0.163	B	0.24394	0.053	T	0.05733	-1.0867	10	0.31617	T	0.26	-24.9066	19.3302	0.94283	0.0:0.0:1.0:0.0	.	726	Q8IWE5	PKHM2_HUMAN	T	726;706	ENSP00000364956:A726T;ENSP00000364950:A706T	ENSP00000364950:A706T	A	+	1	0	PLEKHM2	15928979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.803000	0.69129	2.572000	0.86782	0.591000	0.81541	GCC		0.557	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	0	NM_015164		1:16056392
AKR7L	246181	broad.mit.edu	37	1	19595852	19595852	+	RNA	SNP	G	G	A	rs570127845		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2		NA																	0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88.0	89.0	89.0					1																	19595852		692	1591	2283			246181							g.chr1:19595852G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595852G>A		False	False		Somatic	0				AKR7L_ENST00000429712.1_RNA				WXS	Illumina HiSeq	Phase_I					0	507	-			NA					Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	0	NM_201252		1:19595852
DOCK9	23348	broad.mit.edu	37	13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTGAGCTCAAAAGCAAA	0.353																																						ENST00000376460.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(745-747)gAg>gGg		dedicator of cytokinesis 9							72.0	65.0	68.0					13																	99567729		1936	4149	6085	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99567729T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.746A>G	13.37:g.99567729T>C	ENSP00000365643:p.Glu249Gly	False	False		Somatic	0				DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G	p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	WXS	Illumina HiSeq	Phase_I	Q9BZ29	DOCK9_HUMAN			8	826	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		250			PH.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.746A>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584483	0.86748	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.982;1.0	D	0.91171	0.4968	9	.	.	.	.	14.4179	0.67163	0.0:0.0:0.0:1.0	.	250;249;249;249;250	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	G	249;250;250;250;249;250;261;249	ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G	.	E	-	2	0	DOCK9	98365730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.824000	0.53156	0.533000	0.62120	GAG		0.353	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	0	NM_015296		13:99567729
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
CIT	11113	broad.mit.edu	37	12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000261833.7	-	19	2322	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	CIT_ENST00000392521.2_Missense_Mutation_p.G799D|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	757					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGAATTTTGCCCTTCTCATG	0.468																																						ENST00000392521.2		NA																	0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2395-2397)gGc>gAc		citron (rho-interacting, serine/threonine kinase 21)							227.0	207.0	214.0					12																	120198768		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120198768C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2270G>A	12.37:g.120198768C>T	ENSP00000261833:p.Gly757Asp	True	False		Somatic	0				CIT_ENST00000261833.7_Missense_Mutation_p.G757D|CIT_ENST00000537607.1_5'UTR	p.G799D	NM_001206999.1	NP_001193928.1	WXS	Illumina HiSeq	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	20	2451	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	757					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2396G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115986|3.115986	0.56505|0.56505	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.0	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.238217	.|0.43110	.|D	.|0.000601	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.14661|0.14661	0.345|0.345	0.38369|0.38369	D|D	0.944814|0.944814	.|B;B;B	.|0.26845	.|0.03;0.03;0.161	.|B;B;B	.|0.23852	.|0.022;0.022;0.049	T|T	0.42816|0.42816	-0.9429|-0.9429	5|10	.|0.14252	.|T	.|0.57	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	.|799;757;290	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|D	385|799;757	.|ENSP00000376306:G799D;ENSP00000261833:G757D	.|ENSP00000261833:G757D	A|G	-|-	1|2	0|0	CIT|CIT	118683151|118683151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.928000|3.928000	0.56506|0.56506	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	NM_007174		12:120198768
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001					ENST00000374660.1		NA																	2	Substitution - Missense(2)	p.T768A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2659-2661)Acg>Gcg		ankyrin repeat domain 30A							13.0	10.0	11.0					10																	37478443		386	1018	1404	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37478443A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala	False	False		Somatic	0				ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR	p.T887A			WXS	Illumina HiSeq	Phase_I	Q9BXX3	AN30A_HUMAN			31	2758	+			943					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2659A>G		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	NM_052997		10:37478443
ATP10A	57194	broad.mit.edu	37	15	25940081	25940081	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAGGAAGAGGAATTTGTCCT	0.617																																						ENST00000356865.6		NA																	0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2971-2973)ttC>ttT		ATPase, class V, type 10A							90.0	88.0	88.0					15																	25940081		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940081G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2973C>T	15.37:g.25940081G>A		False	False		Somatic	0					p.F991F	NM_024490.3	NP_077816.1	WXS	Illumina HiSeq	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3084	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	991					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2973C>T	CCDS32178.1																																																																																				0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	NM_024490		15:25940081
CRADD	8738	broad.mit.edu	37	12	94244044	94244044	+	Silent	SNP	G	G	A	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.E199E			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.0					ENST00000542893.2		NA																	0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(595-597)gaG>gaA		CASP2 and RIPK1 domain containing adaptor with death domain		G		29,4333		0,29,2152	32.0	33.0	33.0		597	2.3	1.0	12	dbSNP_132	33	0,8552		0,0,4276	no	coding-synonymous	CRADD	NM_003805.3		0,29,6428	AA,AG,GG		0.0,0.6648,0.2246		199/200	94244044	29,12885	2181	4276	6457	SO:0001819	synonymous_variant	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94244044G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.597G>A	12.37:g.94244044G>A		False	False		Somatic	0				CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E	p.E199E			WXS	Illumina HiSeq	Phase_I	P78560	CRADD_HUMAN			3	915	+			199					B7Z2Q5	Silent	SNP	ENST00000542893.2	37	c.597G>A	CCDS9048.1																																																																																				0.597	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	0	NM_003805		12:94244044
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T		True	False		Somatic	0				SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	WXS	Illumina HiSeq	Phase_I	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	0	NM_006746		X:17770059
UGT2A1	10941	broad.mit.edu	37	4	70505048	70505048	+	Intron	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:70505048A>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A2_ENST00000457664.2_Missense_Mutation_p.I104N|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTATGGTCAATCCACAGCAT	0.368																																						ENST00000457664.2		NA																	0					NA						c.(310-312)aTt>aAt									117.0	113.0	114.0					4																	70505048		1858	4097	5955	SO:0001627	intron_variant	0							g.chr4:70505048A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7599T>A	4.37:g.70505048A>T		False	False		Somatic	0				UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	p.I104N	NM_001105677.2	NP_001099147.2	WXS	Illumina HiSeq	Phase_I					1	310	-			NA					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.311T>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735923	0.15574	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61859	0.16;0.07	5.85	3.38	0.38709	.	.	.	.	.	T	0.41604	0.1166	N	0.14661	0.345	.	.	.	B;P	0.39282	0.427;0.666	B;B	0.42827	0.399;0.328	T	0.49263	-0.8958	8	0.40728	T	0.16	.	7.2167	0.25963	0.7765:0.1468:0.0766:0.0	.	305;104	E9PDM7;Q9Y4X1-2	.;.	N	104;305	ENSP00000387888:I104N;ENSP00000425497:I305N	ENSP00000387888:I104N	I	-	2	0	UGT2A1	70539637	0.004000	0.15560	0.888000	0.34837	0.834000	0.47266	2.203000	0.42752	0.464000	0.27142	-0.446000	0.05623	ATT		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	0	NM_006798		4:70505048
TRIM51	84767	broad.mit.edu	37	11	55655602	55655602	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:55655602T>A	ENST00000449290.2	+	4	694	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	201						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTGGAAAGGCTGCGAAAGGAG	0.433																																						ENST00000449290.2		NA																	0					NA						c.(601-603)cTg>cAg		tripartite motif-containing 51							63.0	60.0	61.0					11																	55655602		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655602T>A	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.602T>A	11.37:g.55655602T>A	ENSP00000395086:p.Leu201Gln	False	False		Somatic	0				TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	p.L201Q	NM_032681.3	NP_116070.2	WXS	Illumina HiSeq	Phase_I	Q9BSJ1	SPRY5_HUMAN			4	694	+			201					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.602T>A		.	.	.	.	.	.	.	.	.	.	.	10.17	1.277679	0.23307	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.10192	2.9;2.9	0.757	0.757	0.18427	.	.	.	.	.	T	0.35068	0.0919	M	0.93197	3.39	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09997	-1.0649	9	0.87932	D	0	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	201	Q9BSJ1	SPRY5_HUMAN	Q	201;58	ENSP00000395086:L201Q;ENSP00000244891:L58Q	ENSP00000244891:L58Q	L	+	2	0	SPRYD5	55412178	0.014000	0.17966	0.001000	0.08648	0.342000	0.28953	1.160000	0.31761	0.594000	0.29761	0.128000	0.15822	CTG		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	0	NM_032681		11:55655602
PTPRM	5797	broad.mit.edu	37	18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I|PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTGGCCGGACTTTTGCTAAC	0.756																																						ENST00000332175.8		NA																	0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(40-42)Ctt>Att		protein tyrosine phosphatase, receptor type, M							56.0	55.0	55.0					18																	7567856		2203	4299	6502	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7567856C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.40C>A	18.37:g.7567856C>A	ENSP00000331418:p.Leu14Ile	True	False		Somatic	0				PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	p.L14I	NM_002845.3	NP_002836.3	WXS	Illumina HiSeq	Phase_I	P28827	PTPRM_HUMAN			1	1077	+		Colorectal(10;0.234)	14					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.40C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342799	0.61073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.38401	1.14;1.14	3.47	3.47	0.39725	.	0.288191	0.23920	N	0.043243	T	0.28267	0.0698	L	0.39898	1.24	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.13407	0.009;0.009	T	0.06972	-1.0797	10	0.15952	T	0.53	.	14.55	0.68059	0.0:1.0:0.0:0.0	.	14;14	A7MBN1;P28827	.;PTPRM_HUMAN	I	14	ENSP00000331418:L14I;ENSP00000382933:L14I	ENSP00000331418:L14I	L	+	1	0	PTPRM	7557856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.495000	0.35627	1.498000	0.48600	0.305000	0.20034	CTT		0.756	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	0			18:7567856
TCEAL2	140597	broad.mit.edu	37	X	101382205	101382205	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483																																						ENST00000372780.1		NA																	0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(403-405)Ccc>Tcc		transcription elongation factor A (SII)-like 2							104.0	103.0	103.0					X																	101382205		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382205C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.403C>T	X.37:g.101382205C>T	ENSP00000361866:p.Pro135Ser	True	False		Somatic	0				TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	p.P135S	NM_080390.3	NP_525129.1	WXS	Illumina HiSeq	Phase_I	Q9H3H9	TCAL2_HUMAN			3	622	+			135					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.403C>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461939	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.09445	2.98;2.98	3.43	2.57	0.30868	.	0.000000	0.47093	D	0.000250	T	0.26448	0.0646	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02581	-1.1138	10	0.62326	D	0.03	.	5.8361	0.18607	0.0:0.8506:0.0:0.1494	.	135	Q9H3H9	TCAL2_HUMAN	S	135	ENSP00000361866:P135S;ENSP00000332359:P135S	ENSP00000332359:P135S	P	+	1	0	TCEAL2	101268861	0.637000	0.27216	0.037000	0.18230	0.992000	0.81027	1.350000	0.34010	0.824000	0.34613	0.594000	0.82650	CCC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	0	NM_080390		X:101382205
GTPBP10	85865	broad.mit.edu	37	7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318																																						ENST00000222511.6		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(352-354)Gta>Ata		GTP-binding protein 10 (putative)							93.0	99.0	97.0					7																	89984432		2203	4299	6502	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89984432G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.352G>A	7.37:g.89984432G>A	ENSP00000222511:p.Val118Ile	False	False		Somatic	0				GTPBP10_ENST00000257659.8_Intron	p.V118I	NM_033107.3	NP_149098.2	WXS	Illumina HiSeq	Phase_I	A4D1E9	GTPBA_HUMAN			4	418	+			118					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.352G>A	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207693	0.58343	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.23147	1.92;1.92;1.92	5.93	1.65	0.23941	GTP1/OBG subdomain (3);	0.255751	0.38111	N	0.001808	T	0.20047	0.0482	N	0.25825	0.765	0.41162	D	0.986103	P;B;B	0.34639	0.461;0.142;0.087	B;B;B	0.40940	0.186;0.134;0.344	T	0.04723	-1.0931	9	.	.	.	-5.9962	11.8274	0.52275	0.2753:0.0:0.7247:0.0	.	118;109;135	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	I	109;135;118	ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I	.	V	+	1	0	GTPBP10	89822368	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.014000	0.57145	0.417000	0.25871	0.655000	0.94253	GTA		0.318	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	0	NM_033107		7:89984432
ENAM	10117	broad.mit.edu	37	4	71508016	71508016	+	Silent	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512																																						ENST00000396073.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(871-873)ccA>ccT		enamelin							66.0	62.0	63.0					4																	71508016		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508016A>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.873A>T	4.37:g.71508016A>T		True	False		Somatic	0				ENAM_ENST00000472903.1_Intron	p.P291P	NM_031889.2	NP_114095.2	WXS	Illumina HiSeq	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1154	+			291					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.873A>T	CCDS3544.2																																																																																				0.512	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	0	NM_031889		4:71508016
KRT78	196374	broad.mit.edu	37	12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	rs373055664		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000304620.4	-	7	1304	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607																																						ENST00000359499.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(910-912)cGc>cAc		keratin 78		C	HIS/ARG	0,4406		0,0,2203	70.0	61.0	64.0		1241	3.0	1.0	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233575C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1241G>A	12.37:g.53233575C>T	ENSP00000306261:p.Arg414His	False	False		Somatic	0				KRT78_ENST00000304620.4_Missense_Mutation_p.R414H	p.R304H			WXS	Illumina HiSeq	Phase_I	Q8N1N4	K2C78_HUMAN			7	922	-			414			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.911G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	KRT78	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC		0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	0	NM_173352		12:53233575
CDC14A	8556	broad.mit.edu	37	1	100964516	100964516	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCCAGTTCTCTAGGGAACTT	0.458																																						ENST00000336454.3		NA																	0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1453-1455)Cta>Tta		cell division cycle 14A							52.0	53.0	53.0					1																	100964516		2203	4300	6503	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964516C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1453C>T	1.37:g.100964516C>T		False	False		Somatic	0				CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L	p.L485L	NM_003672.3	NP_003663.2	WXS	Illumina HiSeq	Phase_I	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	1808	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	485					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.1453C>T	CCDS769.1																																																																																				0.458	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	0	NM_033312		1:100964516
ALAS2	212	broad.mit.edu	37	X	55042077	55042077	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000330807.5	-	8	1239	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527																																						ENST00000330807.5		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1102-1104)Cgg>Tgg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						83.0	70.0	74.0					X																	55042077		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042077G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1102C>T	X.37:g.55042077G>A	ENSP00000332369:p.Arg368Trp	True	False		Somatic	0				ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	p.R368W	NM_000032.4	NP_000023.2	WXS	Illumina HiSeq	Phase_I	P22557	HEM0_HUMAN			8	1239	-			368					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1102C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293539	0.60086	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95238	-3.65;-3.65;-3.65	5.75	2.8	0.32819	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.169618	0.52532	D	0.000065	D	0.97561	0.9201	H	0.94658	3.565	0.32571	N	0.529787	D;D;D	0.76494	0.994;0.999;0.999	P;D;P	0.64144	0.875;0.922;0.875	D	0.98784	1.0733	10	0.87932	D	0	-12.041	13.6877	0.62526	0.0:0.0:0.6071:0.3929	.	331;355;368	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	W	368;355;331	ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W	ENSP00000332369:R368W	R	-	1	2	ALAS2	55058802	0.446000	0.25665	0.975000	0.42487	0.674000	0.39518	2.674000	0.46867	0.654000	0.30846	0.594000	0.82650	CGG		0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	0	NM_000032		X:55042077
MUC6	4588	broad.mit.edu	37	11	1016106	1016106	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:1016106G>A	ENST00000421673.2	-	31	6745	c.6695C>T	c.(6694-6696)aCc>aTc	p.T2232I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2232	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGACACGGTAACAGTGGA	0.602																																						ENST00000421673.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6694-6696)aCc>aTc		mucin 6, oligomeric mucus/gel-forming							65.0	77.0	73.0					11																	1016106		2151	4251	6402	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016106G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6695C>T	11.37:g.1016106G>A	ENSP00000406861:p.Thr2232Ile	False	False		Somatic	0					p.T2232I	NM_005961.2	NP_005952.2	WXS	Illumina HiSeq	Phase_I	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6745	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2232			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6695C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214525	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.18960	2.18	2.14	-0.539	0.11865	.	.	.	.	.	T	0.07638	0.0192	N	0.14661	0.345	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.26430	-1.0103	9	0.30078	T	0.28	.	3.3997	0.07319	0.152:0.0:0.396:0.452	.	2232	Q6W4X9	MUC6_HUMAN	I	2232	ENSP00000406861:T2232I	ENSP00000406861:T2232I	T	-	2	0	MUC6	1006106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.066000	0.14489	-0.364000	0.08088	0.393000	0.25936	ACC		0.602	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	0	XM_290540		11:1016106
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5		NA																	0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile	False	False		Somatic	0				HSPE1_ENST00000465573.1_3'UTR|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	p.V101I	NM_002157.2	NP_002148.1	WXS	Illumina HiSeq	Phase_I			Epithelial(96;0.225)		4	744	+			NA					O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	0	NM_002157		2:198367975
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2		NA																	0					NA																																														0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T		False	False		Somatic	0						NR_003521.1		WXS	Illumina HiSeq	Phase_I					0	1785	-			NA					Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	0	NR_003521		15:23191911
LRP1B	53353	broad.mit.edu	37	2	141773437	141773437	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:141773437A>T	ENST00000389484.3	-	13	2989	c.2018T>A	c.(2017-2019)gTg>gAg	p.V673E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTTCCCACGCTGTCATC	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2017-2019)gTg>gAg		low density lipoprotein receptor-related protein 1B							164.0	159.0	161.0					2																	141773437		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773437A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2018T>A	2.37:g.141773437A>T	ENSP00000374135:p.Val673Glu	True	False	TSP Lung(27;0.18)	Somatic	0					p.V673E	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	13	2989	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	673					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2018T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94537	-3.45	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.084078	0.49305	U	0.000157	D	0.91418	0.7292	N	0.12569	0.235	0.40475	D	0.980386	D	0.58970	0.984	P	0.57679	0.825	D	0.88429	0.3034	10	0.02654	T	1	.	16.3534	0.83225	1.0:0.0:0.0:0.0	.	673	Q9NZR2	LRP1B_HUMAN	E	673;611	ENSP00000374135:V673E	ENSP00000374135:V673E	V	-	2	0	LRP1B	141489907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.311000	0.77944	0.528000	0.53228	GTG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141773437
DNAJC30	84277	broad.mit.edu	37	7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607																																						ENST00000395176.2		NA																	0				kidney(1)|large_intestine(2)|lung(1)	4						c.(124-126)Gac>Tac		DnaJ (Hsp40) homolog, subfamily C, member 30							80.0	92.0	88.0					7																	73097630		2200	4293	6493	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097630C>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.124G>T	7.37:g.73097630C>A	ENSP00000378605:p.Asp42Tyr	False	False		Somatic	0				WBSCR22_ENST00000464615.1_3'UTR	p.D42Y	NM_032317.2	NP_115693.2	WXS	Illumina HiSeq	Phase_I	Q96LL9	DJC30_HUMAN			1	153	-			42					Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.124G>T	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297340	0.60086	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.57907	0.37	4.66	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.393472	0.19126	N	0.122048	T	0.50803	0.1637	L	0.29908	0.895	0.29622	N	0.846083	D	0.62365	0.991	P	0.57283	0.817	T	0.47548	-0.9109	10	0.51188	T	0.08	-13.1658	6.82	0.23852	0.0:0.7956:0.0:0.2044	.	42	Q96LL9	DJC30_HUMAN	Y	42;39	ENSP00000378605:D42Y	ENSP00000378605:D42Y	D	-	1	0	DNAJC30	72735566	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.068000	0.14531	1.167000	0.42706	0.655000	0.94253	GAC		0.607	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2	0			7:73097630
ZNF302	55900	broad.mit.edu	37	19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000446502.2	+	6	1163	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTACTAACCATCAGAGCAC	0.428																																						ENST00000505242.1		NA																	0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(823-825)Cat>Tat		zinc finger protein 302							93.0	91.0	92.0					19																	35175765		2203	4300	6503	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175765C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.955C>T	19.37:g.35175765C>T	ENSP00000396379:p.His319Tyr	False	False		Somatic	0				ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000446502.2_Missense_Mutation_p.H319Y	p.H275Y			WXS	Illumina HiSeq	Phase_I	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1317	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		354					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866730	0.32977	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.967	0.967	0.19674	.	.	.	.	.	D	0.94918	0.8357	H	0.97214	3.96	0.09310	N	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.973;0.999	D	0.85181	0.1004	9	0.87932	D	0	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	319;275	E7EVR1;Q9NR11-2	.;.	Y	275;275;275;319	ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y	ENSP00000405219:H275Y	H	+	1	0	ZNF302	39867605	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.528000	0.73807	0.822000	0.34565	0.467000	0.42956	CAT		0.428	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1	0			19:35175765
OR10S1	219873	broad.mit.edu	37	11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R243H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602																																						ENST00000531945.1		NA																	1	Substitution - Missense(1)	p.R243H(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(727-729)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1							46.0	47.0	47.0					11																	123847671		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847671C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.728G>A	11.37:g.123847671C>T	ENSP00000431914:p.Arg243His	False	False		Somatic	0					p.R243H	NM_001004474.1	NP_001004474.1	WXS	Illumina HiSeq	Phase_I	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	817	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	243					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.728G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804634	0.02819	.	.	ENSG00000196248	ENST00000531945	T	0.39229	1.09	4.85	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000680	T	0.19406	0.0466	N	0.17838	0.53	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09729	-1.0661	10	0.20519	T	0.43	-8.8926	1.6508	0.02771	0.1318:0.368:0.1283:0.3719	.	243	Q8NGN2	O10S1_HUMAN	H	243	ENSP00000431914:R243H	ENSP00000431914:R243H	R	-	2	0	OR10S1	123352881	0.000000	0.05858	0.043000	0.18650	0.001000	0.01503	-2.583000	0.00904	0.028000	0.15324	-0.782000	0.03352	CGC		0.602	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	0	NM_001004474		11:123847671
PCDHB12	56124	broad.mit.edu	37	5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398																																						ENST00000239450.2		NA																	0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(880-882)atT>atG									80.0	86.0	84.0					5																	140589361		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589361T>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.882T>G	5.37:g.140589361T>G	ENSP00000239450:p.Ile294Met	False	False		Somatic	0				PCDHB12_ENST00000541609.1_Intron	p.I294M	NM_018932.3	NP_061755.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1071	+			294			Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.882T>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390776	0.25118	.	.	ENSG00000120328	ENST00000239450	T	0.72615	-0.67	4.06	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70622	0.3245	M	0.81614	2.55	0.39524	D	0.968565	P	0.44429	0.835	P	0.49477	0.612	T	0.68341	-0.5434	9	0.59425	D	0.04	.	0.1734	0.00116	0.2491:0.1891:0.1861:0.3757	.	294	Q9Y5F1	PCDBC_HUMAN	M	294	ENSP00000239450:I294M	ENSP00000239450:I294M	I	+	3	3	PCDHB12	140569545	0.000000	0.05858	0.033000	0.17914	0.538000	0.34931	-4.588000	0.00212	0.078000	0.16900	0.402000	0.26972	ATT		0.398	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	0	NM_018932		5:140589361
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACACTTTCCGCAAACTCTTC	0.572																																						ENST00000252723.2		NA																	0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(496-498)cGc>cAc		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						126.0	129.0	128.0					7																	100320671		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320671G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	7.37:g.100320671G>A	ENSP00000252723:p.Arg166His	False	False		Somatic	0					p.R166H	NM_000799.2	NP_000790.2	WXS	Illumina HiSeq	Phase_I	P01588	EPO_HUMAN			5	678	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		166					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.497G>A	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	EPO	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC		0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	0	NM_000799		7:100320671
DPP6	1804	broad.mit.edu	37	7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000377770.3	+	11	1388	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000404039.1_Missense_Mutation_p.G352E|DPP6_ENST00000427557.1_Missense_Mutation_p.G309E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCACCACGGGGGTCTGCACG	0.672																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1		NA																	0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1054-1056)gGg>gAg		dipeptidyl-peptidase 6							25.0	28.0	27.0					7																	154585899		2047	4184	6231	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585899G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1247G>A	7.37:g.154585899G>A	ENSP00000367001:p.Gly416Glu	True	False		Somatic	0				DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E	p.G352E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	WXS	Illumina HiSeq	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1642	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	416						Missense_Mutation	SNP	ENST00000377770.3	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.469040	0.96274	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.91635	0.969;0.997;0.999;0.998	T	0.79683	-0.1701	10	0.59425	D	0.04	-17.0272	16.5503	0.84471	0.0:0.0:1.0:0.0	.	309;354;416;352	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	352;416;354;309	ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E	ENSP00000328226:G354E	G	+	2	0	DPP6	154216832	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	GGG		0.672	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	0	NM_130797		7:154585899
ZNF720	124411	broad.mit.edu	37	16	31766391	31766391	+	Intron	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:31766391C>A	ENST00000316491.9	+	4	560				ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_Nonsense_Mutation_p.S260*	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TGTGGTAAATCATTTAAAGTG	0.368																																						ENST00000399681.3		NA																	0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(778-780)tCa>tAa		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766391C>A	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1170C>A	16.37:g.31766391C>A		False	False		Somatic	0				ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron	p.S260*			WXS	Illumina HiSeq	Phase_I	Q7Z2F6	ZN720_HUMAN			6	1258	+			0					Q6ZQX1	Nonsense_Mutation	SNP	ENST00000316491.9	37	c.779C>A	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.822513	0.90873	.	.	ENSG00000197302	ENST00000399681	.	.	.	0.965	0.965	0.19661	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.9063	0.13800	0.0:0.6057:0.3943:0.0	.	.	.	.	X	260	.	ENSP00000440701:S260X	S	+	2	0	ZNF720	31673892	0.000000	0.05858	0.384000	0.26145	0.354000	0.29330	-0.893000	0.04127	0.847000	0.35167	0.561000	0.74099	TCA		0.368	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	0	NM_001004300		16:31766391
SMPD1	6609	broad.mit.edu	37	11	6413007	6413007	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:6413007G>A	ENST00000342245.4	+	2	880	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCTGCCGCCCGCATCCCGGCC	0.672																																						ENST00000342245.4		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(712-714)Gca>Aca		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						42.0	51.0	48.0					11																	6413007		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413007G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.712G>A	11.37:g.6413007G>A	ENSP00000340409:p.Ala238Thr	True	False		Somatic	0				SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T	p.A238T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	WXS	Illumina HiSeq	Phase_I	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	880	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	236					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.712G>A	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158173	0.01686	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10288	2.9;2.91;2.89;2.9	5.15	-1.88	0.07713	Metallophosphoesterase domain (1);	1.029790	0.07657	N	0.932959	T	0.04907	0.0132	N	0.17800	0.525	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.009	B;B;B	0.09377	0.003;0.004;0.004	T	0.45264	-0.9273	10	0.11182	T	0.66	-34.8036	1.7151	0.02900	0.4933:0.1325:0.2251:0.1491	.	237;238;236	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	238;238;238;237	ENSP00000299397:A238T;ENSP00000349203:A238T;ENSP00000340409:A238T;ENSP00000435350:A237T	ENSP00000299397:A238T	A	+	1	0	SMPD1	6369583	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.087000	0.03383	0.025000	0.15241	-0.345000	0.07892	GCA		0.672	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	0	NM_000543		11:6413007
HMGCR	3156	broad.mit.edu	37	5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368																																						ENST00000287936.4		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(814-816)Cgc>Tgc		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						128.0	129.0	128.0					5																	74646647		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646647C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.814C>T	5.37:g.74646647C>T	ENSP00000287936:p.Arg272Cys	False	False		Somatic	0				HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	p.R272C	NM_000859.2	NP_000850.1	WXS	Illumina HiSeq	Phase_I	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	9	970	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	272					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.814C>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171053	0.94807	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.59502	0.37;0.37;0.26	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.977;0.945;0.986;0.964	T	0.80067	-0.1537	10	0.72032	D	0.01	-13.5435	20.3248	0.98698	0.0:1.0:0.0:0.0	.	272;272;272;272	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	C	272;203;272;272	ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C	ENSP00000287936:R272C	R	+	1	0	HMGCR	74682403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.924000	0.70054	2.818000	0.97014	0.655000	0.94253	CGC		0.368	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	0			5:74646647
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His	False	False		Somatic	0				CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	p.R85H	NM_175862.4	NP_787058.4	WXS	Illumina HiSeq	Phase_I	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	370	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	NM_006889		3:121822548
TPSD1	23430	broad.mit.edu	37	16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627																																						ENST00000211076.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(331-333)Gtc>Atc		tryptase delta 1							61.0	63.0	62.0					16																	1306874		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306874G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.331G>A	16.37:g.1306874G>A	ENSP00000211076:p.Val111Ile	False	False		Somatic	0				TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	p.V111I	NM_012217.2	NP_036349.1	WXS	Illumina HiSeq	Phase_I	Q9BZJ3	TRYD_HUMAN			3	479	+		Hepatocellular(780;0.00369)	111			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.331G>A	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259525	0.23051	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84298	-1.83;-1.83	2.55	-2.96	0.05547	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.262880	0.05827	N	0.616806	T	0.79822	0.4512	L	0.55990	1.75	0.09310	N	1	B;B	0.20459	0.008;0.045	B;B	0.26614	0.071;0.071	T	0.62530	-0.6835	10	0.44086	T	0.13	.	4.467	0.11694	0.3246:0.1675:0.508:0.0	.	95;111	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	I	104;111	ENSP00000380668:V104I;ENSP00000211076:V111I	ENSP00000211076:V111I	V	+	1	0	TPSD1	1246875	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.596000	0.02091	-0.864000	0.04078	0.185000	0.17295	GTC		0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	0			16:1306874
ZNF507	22847	broad.mit.edu	37	19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463																																						ENST00000311921.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1471-1473)Cga>Tga		zinc finger protein 507							57.0	60.0	59.0					19																	32845207		2203	4300	6503	SO:0001587	stop_gained	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845207C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	19.37:g.32845207C>T	ENSP00000312277:p.Arg491*	False	False		Somatic	0				ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000587084.1_3'UTR	p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	WXS	Illumina HiSeq	Phase_I	Q8TCN5	ZN507_HUMAN			2	1663	+	Esophageal squamous(110;0.162)		491					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	ENST00000311921.4	37	c.1471C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	ZNF507	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA		0.463	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	0	NM_014910		19:32845207
CD6	923	broad.mit.edu	37	11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7		NA																	0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(847-849)Cga>Tga		CD6 molecule							72.0	60.0	64.0					11																	60777109		2203	4299	6502	SO:0001587	stop_gained	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777109C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.847C>T	11.37:g.60777109C>T	ENSP00000323280:p.Arg283*	False	False		Somatic	0				CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron	p.R283*	NM_006725.4	NP_006716.3	WXS	Illumina HiSeq	Phase_I	P30203	CD6_HUMAN			5	1033	+			283			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Nonsense_Mutation	SNP	ENST00000313421.7	37	c.847C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312432	0.95655	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	.	.	.	4.76	4.76	0.60689	.	0.215583	0.30210	N	0.010146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3344	0.90282	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000323280:R283X	R	+	1	2	CD6	60533685	0.000000	0.05858	0.954000	0.39281	0.729000	0.41735	0.300000	0.19156	2.575000	0.86900	0.555000	0.69702	CGA		0.642	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	0	NM_006725		11:60777109
UVRAG	7405	broad.mit.edu	37	11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:75562938G>A	ENST00000356136.3	+	2	369	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGGCGTCTTCGACATCTTCGG	0.363																																						ENST00000356136.3		NA																	0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(127-129)cGa>cAa		UV radiation resistance associated							120.0	123.0	122.0					11																	75562938		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75562938G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.128G>A	11.37:g.75562938G>A	ENSP00000348455:p.Arg43Gln	False	False		Somatic	0				UVRAG_ENST00000528420.1_5'UTR	p.R43Q	NM_003369.3	NP_003360.2	WXS	Illumina HiSeq	Phase_I	Q9P2Y5	UVRAG_HUMAN			2	369	+			43					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.128G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115643	0.94339	.	.	ENSG00000198382	ENST00000356136	T	0.62232	0.04	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73216	-0.4053	10	0.72032	D	0.01	-11.0214	17.6814	0.88245	0.0:0.0:1.0:0.0	.	43	Q9P2Y5	UVRAG_HUMAN	Q	43	ENSP00000348455:R43Q	ENSP00000348455:R43Q	R	+	2	0	UVRAG	75240586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	2.765000	0.95021	0.655000	0.94253	CGA		0.363	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	0	NM_003369		11:75562938
VAV3	10451	broad.mit.edu	37	1	108322082	108322082	+	Silent	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.T118T|VAV3_ENST00000371846.4_Silent_p.T53T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTATAGGTGTTCGAGAAA	0.318																																						ENST00000370056.4		NA																	0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(352-354)acA>acT		vav 3 guanine nucleotide exchange factor							115.0	109.0	111.0					1																	108322082		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108322082T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.354A>T	1.37:g.108322082T>A		False	False		Somatic	0				VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.T118T	p.T118T	NM_006113.4	NP_006104.4	WXS	Illumina HiSeq	Phase_I	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	3	628	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	118			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.354A>T	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808483	0.16467	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.66	-2.99	0.05497	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	1.9071	0.03279	0.1262:0.3105:0.1305:0.4328	.	.	.	.	L	113	.	.	H	-	2	0	VAV3	108123605	0.350000	0.24878	0.943000	0.38184	0.624000	0.37722	-0.789000	0.04609	-0.883000	0.03982	-0.917000	0.02746	CAC		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	0	NM_006113		1:108322082
BTBD11	121551	broad.mit.edu	37	12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGACACTGTGAGATTATCTG	0.463																																						ENST00000280758.5		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3043-3045)Gag>Aag		BTB (POZ) domain containing 11							108.0	101.0	103.0					12																	108045502		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108045502G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3043G>A	12.37:g.108045502G>A	ENSP00000280758:p.Glu1015Lys	False	False		Somatic	0				BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K	p.E1015K	NM_001018072.1	NP_001018082.1	WXS	Illumina HiSeq	Phase_I	A6QL63	BTBDB_HUMAN			16	3571	+			1015					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3043G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370428	0.95900	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.87758	2.905	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79108	0.982;0.992	D	0.88887	0.3343	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	552;1015	E9PHS4;A6QL63	.;BTBDB_HUMAN	K	1015;896;552;94	ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K	ENSP00000280758:E1015K	E	+	1	0	BTBD11	106569632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.258000	0.95555	2.535000	0.85469	0.655000	0.94253	GAG		0.463	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	NM_152322		12:108045502
ZKSCAN3	80317	broad.mit.edu	37	6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632																																						ENST00000377255.3		NA																	0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(157-159)Cgc>Tgc		zinc finger with KRAB and SCAN domains 3							55.0	64.0	61.0					6																	28327520		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327520C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.157C>T	6.37:g.28327520C>T	ENSP00000366465:p.Arg53Cys	False	False		Somatic	0				ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	p.R53C	NM_001242894.1	NP_001229823.1	WXS	Illumina HiSeq	Phase_I	Q9BRR0	ZKSC3_HUMAN			3	454	+			53			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.157C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292117	0.40594	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04317	3.65;3.65	3.83	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03608	0.0103	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54084	-0.8346	9	0.35671	T	0.21	.	2.8501	0.05555	0.3008:0.3842:0.0:0.315	.	53	Q9BRR0	ZKSC3_HUMAN	C	53	ENSP00000252211:R53C;ENSP00000366465:R53C	ENSP00000252211:R53C	R	+	1	0	ZKSCAN3	28435499	0.711000	0.27906	0.995000	0.50966	0.580000	0.36256	-0.636000	0.05465	0.404000	0.25506	0.557000	0.71058	CGC		0.632	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	0	NM_024493		6:28327520
AQP4	361	broad.mit.edu	37	18	24436280	24436280	+	Silent	SNP	C	C	T	rs371116956		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.T289T(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCAGGTCATCCGTCTCTACCT	0.478																																						ENST00000383168.4		NA																	1	Substitution - coding silent(1)	p.T289T(1)	lung(1)	kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(865-867)acG>acA		aquaporin 4		C	,	1,4405	2.1+/-5.4	0,1,2202	360.0	295.0	317.0		867,801	-11.5	0.0	18		317	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AQP4	NM_001650.4,NM_004028.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	289/324,267/302	24436280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436280C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.867G>A	18.37:g.24436280C>T		False	False		Somatic	0				AQP4_ENST00000440832.3_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA	p.T289T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	WXS	Illumina HiSeq	Phase_I	P55087	AQP4_HUMAN			5	995	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		289					P78564	Silent	SNP	ENST00000383168.4	37	c.867G>A	CCDS11889.1																																																																																				0.478	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	0	NM_001650, NM_004028		18:24436280
MAGEA3	4102	broad.mit.edu	37	X	151935782	151935782	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:151935782G>A	ENST00000393902.3	-	3	952	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGACCGGCTCCCTGGCT	0.522																																						ENST00000393902.3		NA																	0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(385-387)Ccg>Tcg		melanoma antigen family A, 3							131.0	123.0	126.0					X																	151935782		2203	4292	6495	SO:0001583	missense	4102							g.chrX:151935782G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.385C>T	X.37:g.151935782G>A	ENSP00000377480:p.Pro129Ser	False	False		Somatic	0				MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S	p.P129S			WXS	Illumina HiSeq	Phase_I	P43357	MAGA3_HUMAN			3	952	-	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.385C>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.352511	0.24512	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06449	3.3;3.3;3.3	1.42	0.339	0.15979	.	0.601897	0.18231	N	0.147574	T	0.14570	0.0352	M	0.80508	2.5	0.09310	N	1	P	0.50272	0.933	P	0.54856	0.762	T	0.06338	-1.0832	10	0.59425	D	0.04	.	4.1473	0.10222	0.0:0.0:0.5984:0.4016	.	129	P43357	MAGA3_HUMAN	S	129	ENSP00000359301:P129S;ENSP00000377480:P129S;ENSP00000392758:P129S	ENSP00000359301:P129S	P	-	1	0	MAGEA3	151686438	0.026000	0.19158	0.001000	0.08648	0.009000	0.06853	1.948000	0.40303	0.043000	0.15746	0.358000	0.22013	CCG		0.522	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	0	NM_005362		X:151935782
ZNF814	730051	broad.mit.edu	37	19	58384887	58384887	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58384887C>T	ENST00000435989.2	-	3	2105	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGTGTGCATGCGCTGATGGTG	0.458																																						ENST00000435989.2		NA																	0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1870-1872)cGc>cAc		zinc finger protein 814							75.0	60.0	65.0					19																	58384887		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384887C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1871G>A	19.37:g.58384887C>T	ENSP00000410545:p.Arg624His	False	False		Somatic	0				ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	p.R624H	NM_001144989.1	NP_001138461.1	WXS	Illumina HiSeq	Phase_I	B7Z6K7	ZN814_HUMAN			3	2105	-			624					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1871G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.486961	0.26686	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.25749	1.78	2.04	-3.61	0.04556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	P	0.50440	0.641	T	0.21724	-1.0237	9	0.87932	D	0	.	3.8089	0.08789	0.0:0.3929:0.1863:0.4208	.	624	B7Z6K7	ZN814_HUMAN	H	624;374	ENSP00000410545:R624H	ENSP00000365378:R374H	R	-	2	0	ZNF814	63076699	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.574000	0.02133	-0.904000	0.03876	0.305000	0.20034	CGC		0.458	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	0	XM_001725708		19:58384887
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000379906.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1225-1227)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	C	,,,	2,4394	4.2+/-10.8	0,2,2196	258.0	214.0	229.0		1227,1227,912,1227	4.4	1.0	16	dbSNP_134	229	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	,,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,,	409/618,409/618,304/513,409/629	55730216	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730216C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1227C>T	16.37:g.55730216C>T		True	False		Somatic	0				SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F	p.F409F	NM_001043.3	NP_001034.1	WXS	Illumina HiSeq	Phase_I	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1482	+			409					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1227C>T	CCDS10754.1																																																																																				0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	0			16:55730216
LPAR6	10161	broad.mit.edu	37	13	48986341	48986341	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000378434.4	-	7	1843	c.219G>A	c.(217-219)agG>agA	p.R73R	LPAR6_ENST00000345941.2_Silent_p.R73R|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGTAAAAAATCCTGAAGGGTA	0.358																																						ENST00000378434.4		NA																	19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(217-219)agG>agA		lysophosphatidic acid receptor 6							57.0	51.0	53.0					13																	48986341		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986341C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.219G>A	13.37:g.48986341C>T		False	False		Somatic	0				LPAR6_ENST00000345941.2_Silent_p.R73R|RB1_ENST00000267163.4_Intron	p.R73R	NM_005767.5	NP_005758.2	WXS	Illumina HiSeq	Phase_I	P43657	LPAR6_HUMAN			7	1843	-			73					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.219G>A	CCDS9410.1																																																																																				0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	0	NM_005767		13:48986341
CIT	11113	broad.mit.edu	37	12	120271946	120271946	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120271946G>A	ENST00000261833.7	-	6	655	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CIT_ENST00000392521.2_Silent_p.Y201Y	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCAGCTAGGTAAAACTGTA	0.438																																						ENST00000392521.2		NA																	0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(601-603)taC>taT		citron (rho-interacting, serine/threonine kinase 21)							129.0	111.0	117.0					12																	120271946		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120271946G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.603C>T	12.37:g.120271946G>A		False	False		Somatic	0				CIT_ENST00000261833.7_Silent_p.Y201Y	p.Y201Y	NM_001206999.1	NP_001193928.1	WXS	Illumina HiSeq	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	6	658	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	201			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.603C>T	CCDS9192.1																																																																																				0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	NM_007174		12:120271946
ANKAR	150709	broad.mit.edu	37	2	190603299	190603299	+	Silent	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V|ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313																																						ENST00000520309.1		NA																	0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3589-3591)gtA>gtG		ankyrin and armadillo repeat containing							148.0	149.0	149.0					2																	190603299		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603299A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3591A>G	2.37:g.190603299A>G		False	False		Somatic	0				ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	p.V1197V	NM_144708.3	NP_653309.3	WXS	Illumina HiSeq	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3679	+			1197					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3591A>G	CCDS33351.2																																																																																				0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	0	NM_144708		2:190603299
PMS1	5378	broad.mit.edu	37	2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATCATTACAATCTGAAATGC	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(841-843)aAt>aGt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							73.0	67.0	69.0					2																	190718684		2201	4295	6496	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718684A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.842A>G	2.37:g.190718684A>G	ENSP00000406490:p.Asn281Ser	False	False		Somatic	0				PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S	p.N281S	NM_000534.4	NP_000525.1	WXS	Illumina HiSeq	Phase_I	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		8	1075	+			281					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.842A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	4.982	0.182439	0.09495	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.83335	-1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35	4.6	-0.982	0.10266	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.586689	0.20108	N	0.099081	T	0.61148	0.2324	N	0.11106	0.095	0.25091	N	0.990853	B;B;B;B;B;B;B	0.20368	0.008;0.013;0.025;0.044;0.008;0.027;0.008	B;B;B;B;B;B;B	0.19666	0.026;0.012;0.026;0.022;0.026;0.017;0.026	T	0.48948	-0.8989	10	0.30078	T	0.28	-9.7476	5.5087	0.16868	0.5066:0.2523:0.2411:0.0	.	281;242;242;66;242;281;281	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	105;281;105;242;281;105;220;66	ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S	ENSP00000376149:N105S	N	+	2	0	PMS1	190426929	0.457000	0.25752	0.992000	0.48379	0.986000	0.74619	0.421000	0.21280	0.038000	0.15604	0.455000	0.32223	AAT		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	0			2:190718684
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373																																						ENST00000261464.5		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)ccT>ccC		TNF receptor-associated factor 5							114.0	103.0	107.0					1																	211534067		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534067T>C	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C		False	False		Somatic	0				TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000367004.3_Silent_p.P189P	p.P189P	NM_001033910.2	NP_001029082.1	WXS	Illumina HiSeq	Phase_I	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	6	621	+			189					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.567T>C	CCDS1497.1																																																																																				0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	0	NM_004619		1:211534067
SLC13A5	284111	broad.mit.edu	37	17	6599137	6599137	+	Silent	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000573648.1_Silent_p.I321I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	321					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587																																						ENST00000433363.2		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(961-963)atC>atA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							143.0	142.0	142.0					17																	6599137		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599137G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.963C>A	17.37:g.6599137G>T		False	False		Somatic	0				SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000573648.1_Silent_p.I321I	p.I321I	NM_177550.3	NP_808218.1	WXS	Illumina HiSeq	Phase_I	Q86YT5	S13A5_HUMAN			7	1196	-			321					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.963C>A	CCDS11079.1																																																																																				0.587	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	0	NM_177550		17:6599137
TCERG1	10915	broad.mit.edu	37	5	145838683	145838683	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagcccaagcccaggcccagg	0.701																																						ENST00000296702.5		NA																	0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(673-675)gcC>gcT		transcription elongation regulator 1							16.0	21.0	20.0					5																	145838683		2202	4300	6502	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838683C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.675C>T	5.37:g.145838683C>T		True	False		Somatic	0				TCERG1_ENST00000394421.2_Silent_p.A225A	p.A225A	NM_006706.3	NP_006697.2	WXS	Illumina HiSeq	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	713	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	225			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.675C>T	CCDS4282.1																																																																																				0.701	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	NM_001040006		5:145838683
ANKRD28	23243	broad.mit.edu	37	3	15752737	15752737	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:15752737G>A	ENST00000399451.2	-	12	1595	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	410						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCAGCTGCATGTAGACAAGTC	0.313																																						ENST00000399451.2		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1228-1230)Cat>Tat		ankyrin repeat domain 28							65.0	65.0	65.0					3																	15752737		1820	4082	5902	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15752737G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1228C>T	3.37:g.15752737G>A	ENSP00000382379:p.His410Tyr	False	False		Somatic	0				ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR	p.H410Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina HiSeq	Phase_I	O15084	ANR28_HUMAN			12	1595	-			410					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1228C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799957	0.90538	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71222	-0.55;-0.55;-0.55	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.86664	0.1906	10	0.51188	T	0.08	.	19.584	0.95484	0.0:0.0:1.0:0.0	.	443;440;410	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Y	410;443;410	ENSP00000382379:H410Y;ENSP00000373287:H443Y;ENSP00000397341:H410Y	ENSP00000373287:H443Y	H	-	1	0	ANKRD28	15727741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.779000	0.99018	2.698000	0.92095	0.655000	0.94253	CAT		0.313	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	0	NM_015199		3:15752737
HHATL	57467	broad.mit.edu	37	3	42739123	42739123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:42739123G>A	ENST00000441594.1	-	7	1003	c.742C>T	c.(742-744)Cga>Tga	p.R248*	HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	248					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCTGGGCTCGGATGTGCCAC	0.617																																						ENST00000441594.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(742-744)Cga>Tga		hedgehog acyltransferase-like							103.0	93.0	96.0					3																	42739123		2203	4300	6503	SO:0001587	stop_gained	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739123G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.742C>T	3.37:g.42739123G>A	ENSP00000405423:p.Arg248*	False	False		Somatic	0				HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	p.R248*	NM_020707.3	NP_065758.3	WXS	Illumina HiSeq	Phase_I	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	7	1003	-			248					Q8TBG3|Q9ULP7	Nonsense_Mutation	SNP	ENST00000441594.1	37	c.742C>T	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	g	36	5.690128	0.96793	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	.	.	.	4.99	4.09	0.47781	.	0.410133	0.27622	N	0.018551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.3238	14.236	0.65927	0.0:0.0:0.8496:0.1504	.	.	.	.	X	248;248;157;183	.	ENSP00000310621:R248X	R	-	1	2	HHATL	42714127	0.983000	0.35010	0.973000	0.42090	0.737000	0.42083	2.510000	0.45468	1.271000	0.44313	0.558000	0.71614	CGA		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	0	NM_020707		3:42739123
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167.0	180.0	176.0					3																	113005548		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	False	False		Somatic	0				BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S	p.P1062S			WXS	Illumina HiSeq	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3888	+			1062					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3184C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	0	NM_033254		3:113005548
PRDM11	56981	broad.mit.edu	37	11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000530656.1	+	7	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	375							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1123-1125)Gcc>Acc		PR domain containing 11							114.0	119.0	117.0					11																	45246046		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246046G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1123G>A	11.37:g.45246046G>A	ENSP00000435976:p.Ala375Thr	False	False		Somatic	0				CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T	p.A375T			WXS	Illumina HiSeq	Phase_I	Q9NQV5	PRD11_HUMAN			8	1372	+			375					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	G	7.057	0.565572	0.13560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.89	5.41	1.86	0.25419	.	0.907108	0.09408	N	0.806162	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33904	-0.9850	10	0.26408	T	0.33	-5.4388	9.0019	0.36088	0.4604:0.0:0.5395:0.0	.	375	Q9NQV5	PRD11_HUMAN	T	375;375;341	ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T	ENSP00000263765:A375T	A	+	1	0	PRDM11	45202622	0.000000	0.05858	0.102000	0.21198	0.199000	0.23934	0.211000	0.17474	0.187000	0.20147	0.558000	0.71614	GCC		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	0	NM_020229		11:45246046
MITF	4286	broad.mit.edu	37	3	69985877	69985877	+	Intron	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:69985877C>T	ENST00000448226.2	+	3	481				MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000394355.2_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000472437.1_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000394351.3_Silent_p.L2L			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CATTGTTATGCTGGAAATGCT	0.348			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000394351.3		NA		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(4-6)Ctg>Ttg		microphthalmia-associated transcription factor							109.0	98.0	102.0					3																	69985877		2203	4300	6503	SO:0001627	intron_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69985877C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.355-1096C>T	3.37:g.69985877C>T		False	False		Somatic	0				MITF_ENST00000352241.4_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Intron|MITF_ENST00000394355.2_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000314589.5_Intron|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000472437.1_Intron|MITF_ENST00000328528.6_Intron	p.L2L	NM_000248.3	NP_000239.1	WXS	Illumina HiSeq	Phase_I	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	1	124	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	0					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.4C>T																																																																																					0.348	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	0	NM_198159		3:69985877
PKD1L1	168507	broad.mit.edu	37	7	47898412	47898412	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:47898412C>T	ENST00000289672.2	-	27	4271	c.4221G>A	c.(4219-4221)ggG>ggA	p.G1407G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1407	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACAAATGGCCCCGAGAACT	0.478																																						ENST00000289672.2		NA																BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4219-4221)ggG>ggA		polycystic kidney disease 1 like 1							89.0	85.0	87.0					7																	47898412		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47898412C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4221G>A	7.37:g.47898412C>T		True	False		Somatic	0					p.G1407G	NM_138295.3	NP_612152.1	WXS	Illumina HiSeq	Phase_I	Q8TDX9	PK1L1_HUMAN			27	4271	-			1407			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4221G>A	CCDS34633.1																																																																																				0.478	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	NM_138295		7:47898412
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|C11orf31_ENST00000388857.4_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125.0	114.0	118.0					11																	57506679		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp	False	False		Somatic	0				TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	p.R231W	NM_015959.3	NP_057043.1	WXS	Illumina HiSeq	Phase_I	Q9Y320	TMX2_HUMAN			7	703	+			231			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.691C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG		0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	0	NM_015959		11:57506679
CTTN	2017	broad.mit.edu	37	11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000301843.8	+	18	1816	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000538675.1_Splice_Site_p.R221H|CTTN_ENST00000376561.3_Splice_Site_p.R500H	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	537	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627																																						ENST00000301843.8		NA																	0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1609-1611)cGg>cAg		cortactin							57.0	52.0	53.0					11																	70281225		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281225G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1610G>A	11.37:g.70281225G>A	ENSP00000301843:p.Arg537Gln	False	False		Somatic	0				CTTN_ENST00000376561.3_Splice_Site_p.R500_splice|CTTN_ENST00000538675.1_Splice_Site_p.R221_splice|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q	p.R537Q	NM_005231.3	NP_005222.2	WXS	Illumina HiSeq	Phase_I	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1816	+			537			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1610G>A	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.205660|3.205660	0.58234|0.58234	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843	T;T;T|T;T	0.50813|0.50277	0.73;0.73;0.73|0.75;0.75	5.82|5.82	3.95|3.95	0.45737|0.45737	.|Src homology-3 domain (5);	1.245650|1.245650	0.05460|0.05460	N|N	0.551019|0.551019	T|T	0.42471|0.42471	0.1204|0.1204	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	0.999994|0.999994	D;D|P;P	0.89917|0.49961	1.0;0.977|0.754;0.93	D;P|B;B	0.87578|0.44108	0.998;0.616|0.319;0.441	T|T	0.28933|0.28933	-1.0028|-1.0028	10|10	0.11794|0.29301	T|T	0.64|0.29	-8.3826|-8.3826	11.1574|11.1574	0.48495|0.48495	0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285	.|.	221;500|500;537	B4E358;Q8N707|Q96H99;Q14247	.;.|.;SRC8_HUMAN	H|Q	500;221;194|500;537	ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q	ENSP00000365745:R500H|ENSP00000301843:R537Q	R|R	+|+	2|2	0|0	CTTN|CTTN	69958873|69958873	0.727000|0.727000	0.28069|0.28069	0.902000|0.902000	0.35471|0.35471	0.332000|0.332000	0.28634|0.28634	3.921000|3.921000	0.56454|0.56454	0.794000|0.794000	0.33899|0.33899	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.627	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	0	NM_138565		11:70281225
SNTG2	54221	broad.mit.edu	37	2	1204809	1204809	+	Silent	SNP	G	G	A	rs201438117	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:1204809G>A	ENST00000308624.5	+	9	741	c.612G>A	c.(610-612)tcG>tcA	p.S204S	SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	204					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S204S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACCTTCCTCGCCCATAGCTA	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17598	0.0		0.0	False		,,,				2504	0.0					ENST00000308624.5		NA																	2	Substitution - coding silent(2)	p.S204S(2)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(610-612)tcG>tcA		syntrophin, gamma 2		G		8,4140		0,8,2066	78.0	85.0	83.0		612	2.1	1.0	2		83	1,8439		0,1,4219	no	coding-synonymous	SNTG2	NM_018968.3		0,9,6285	AA,AG,GG		0.0118,0.1929,0.0715		204/540	1204809	9,12579	2074	4220	6294	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204809G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.612G>A	2.37:g.1204809G>A		True	False		Somatic	0				SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	p.S204S	NM_018968.3	NP_061841.2	WXS	Illumina HiSeq	Phase_I	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	741	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	204					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.612G>A	CCDS46220.1																																																																																				0.582	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	0	NM_018968		2:1204809
ADCY9	115	broad.mit.edu	37	16	4016559	4016559	+	Silent	SNP	G	G	A	rs551214944		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:4016559G>A	ENST00000294016.3	-	11	3817	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTAGGAGCTCGTCAAAGTCCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19311	0.001		0.0	False		,,,				2504	0.0					ENST00000294016.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3277-3279)gaC>gaT		adenylate cyclase 9							99.0	97.0	98.0					16																	4016559		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016559G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3279C>T	16.37:g.4016559G>A		False	False		Somatic	0					p.D1093D	NM_001116.3	NP_001107.2	WXS	Illumina HiSeq	Phase_I	O60503	ADCY9_HUMAN			11	3817	-			1093			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3279C>T	CCDS32382.1																																																																																				0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	0			16:4016559
ADCY8	114	broad.mit.edu	37	8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T	rs386730061|rs557075212	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGTTTCTCCGGTCTGAGGA	0.478										HNSCC(32;0.087)																												ENST00000286355.5		NA																	0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1831-1833)cGg>cAg		adenylate cyclase 8 (brain)							104.0	93.0	97.0					8																	131916097		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916097C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1832G>A	8.37:g.131916097C>T	ENSP00000286355:p.Arg611Gln	False	False	HNSCC(32;0.087)	Somatic	0				ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	p.R611Q	NM_001115.2	NP_001106.1	WXS	Illumina HiSeq	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3924	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		611						Missense_Mutation	SNP	ENST00000286355.5	37	c.1832G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	c	15.47	2.843171	0.51057	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.81247	-1.34;-1.37;-1.47	6.17	3.43	0.39272	.	0.333655	0.37136	N	0.002223	T	0.71685	0.3369	L	0.55213	1.73	0.22292	N	0.999227	B;B	0.14012	0.004;0.009	B;B	0.08055	0.002;0.003	T	0.54282	-0.8317	10	0.15952	T	0.53	.	8.9319	0.35675	0.0:0.743:0.1241:0.1329	.	611;611	E7EVL1;P40145	.;ADCY8_HUMAN	Q	611;611;226	ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q	ENSP00000286355:R611Q	R	-	2	0	ADCY8	131985279	1.000000	0.71417	0.984000	0.44739	0.292000	0.27327	1.969000	0.40510	0.945000	0.37605	-0.119000	0.15052	CGG		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0			8:131916097
CYP2J2	1573	broad.mit.edu	37	1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTTCTCATTGTTTGGGGGCC	0.463																																						ENST00000371204.3		NA																	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(1423-1425)aaC>aaA		cytochrome P450, family 2, subfamily J, polypeptide 2							211.0	229.0	223.0					1																	60359407		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60359407G>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1425C>A	1.37:g.60359407G>T	ENSP00000360247:p.Asn475Lys	True	False		Somatic	0				CYP2J2_ENST00000492633.1_5'UTR	p.N475K	NM_000775.2	NP_000766.2	WXS	Illumina HiSeq	Phase_I	P51589	CP2J2_HUMAN			9	1468	-	all_cancers(7;0.000396)		475					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.1425C>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	4.196	0.034984	0.08101	.	.	ENSG00000134716	ENST00000371204	T	0.66460	-0.21	5.77	0.0605	0.14336	.	1.795700	0.02607	N	0.101724	T	0.37320	0.0999	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0313	0.01539	0.1662:0.2556:0.2891:0.2891	.	475	P51589	CP2J2_HUMAN	K	475	ENSP00000360247:N475K	ENSP00000360247:N475K	N	-	3	2	CYP2J2	60131995	0.000000	0.05858	0.042000	0.18584	0.879000	0.50718	-0.027000	0.12371	0.309000	0.22966	0.655000	0.94253	AAC		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	NM_000775		1:60359407
ZNF181	339318	broad.mit.edu	37	19	35232753	35232753	+	Silent	SNP	T	T	C	rs201356205	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35232753T>C	ENST00000492450.1	+	4	1556	c.1467T>C	c.(1465-1467)taT>taC	p.Y489Y	ZNF181_ENST00000459757.2_Silent_p.Y488Y|ZNF181_ENST00000392232.3_Silent_p.Y533Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													t|||	10	0.00199681	0.0	0.0	5008	,	,		21281	0.005		0.0	False		,,,				2504	0.0051					ENST00000392232.3		NA																	0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1597-1599)taT>taC		zinc finger protein 181							54.0	57.0	56.0					19																	35232753		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232753T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1467T>C	19.37:g.35232753T>C		False	False		Somatic	0				ZNF181_ENST00000459757.1_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y	p.Y533Y			WXS	Illumina HiSeq	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1767	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		489					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1599T>C	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	NM_001029997		19:35232753
IFI44L	10964	broad.mit.edu	37	1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.5	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	82					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313																																						ENST00000370751.4		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(244-246)tCc>tTc		interferon-induced protein 44-like							54.0	58.0	57.0					1																	79093845		2202	4298	6500	SO:0001583	missense	10964					cytoplasm		g.chr1:79093845C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.245C>T	1.37:g.79093845C>T	ENSP00000359787:p.Ser82Phe	True	False		Somatic	0				IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	p.S82F	NM_006820.2	NP_006811.2	WXS	Illumina HiSeq	Phase_I	Q53G44	IF44L_HUMAN			2	424	+			82					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.245C>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000516	0.35320	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.35973	1.28;3.08;2.49	2.89	1.97	0.26223	.	0.239768	0.34652	N	0.003789	T	0.10208	0.0250	L	0.34521	1.04	0.21184	N	0.999769	B	0.28552	0.215	B	0.28916	0.096	T	0.13098	-1.0522	10	0.54805	T	0.06	-4.5215	5.0216	0.14363	0.0:0.7217:0.0:0.2783	.	82	Q53G44	IF44L_HUMAN	F	82;82;59	ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F	ENSP00000359787:S82F	S	+	2	0	IFI44L	78866433	0.000000	0.05858	0.010000	0.14722	0.106000	0.19336	0.018000	0.13422	0.793000	0.33875	0.411000	0.27672	TCC		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	0	NM_006820		1:79093845
FAM92A1P2	403315	broad.mit.edu	37	4	183958909	183958909	+	RNA	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:183958909C>T	ENST00000502308.1	+	0	92					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		CCTGGTTGTGCGCCAGGCAAG	0.572																																						ENST00000502308.1		NA																	0					NA																																														0							g.chr4:183958909C>T	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183958909C>T		False	False		Somatic	0						NR_003612.1		WXS	Illumina HiSeq	Phase_I					0	92	+			NA						RNA	SNP	ENST00000502308.1	37																																																																																						0.572	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1	0			4:183958909
SLC22A11	55867	broad.mit.edu	37	11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A	rs554874803		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000301891.4	+	3	953	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCCAACATTCGTCATCTACT	0.617											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(577-579)ttC>ttA		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						61.0	55.0	57.0					11																	64329557		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329557C>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.579C>A	11.37:g.64329557C>A	ENSP00000301891:p.Phe193Leu	False	False		Somatic	0	OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L	p.F193L	NM_018484.2	NP_060954.1	WXS	Illumina HiSeq	Phase_I	Q9NSA0	S22AB_HUMAN			3	953	+			193					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.579C>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.419179	0.25552	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.58358	0.34;0.34;0.34	3.29	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058354	0.64402	N	0.000002	T	0.47303	0.1438	L	0.45422	1.42	0.09310	N	1	P;P;P	0.51933	0.949;0.484;0.861	P;B;B	0.49140	0.601;0.315;0.446	T	0.36817	-0.9732	10	0.45353	T	0.12	.	8.0924	0.30807	0.0:0.7887:0.0:0.2113	.	193;193;193	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	L	193	ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L	ENSP00000301891:F193L	F	+	3	2	SLC22A11	64086133	0.056000	0.20664	0.001000	0.08648	0.000000	0.00434	0.659000	0.24994	0.214000	0.20742	-1.547000	0.00903	TTC		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	0	NM_018484		11:64329557
VTCN1	79679	broad.mit.edu	37	1	117699284	117699284	+	Silent	SNP	G	G	A	rs202083832		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000359008.4_Silent_p.N122N	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGAGTTGCACGTTTTTCAGCC	0.453																																						ENST00000369458.3		NA																	0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(355-357)aaC>aaT		V-set domain containing T cell activation inhibitor 1		G		0,4406		0,0,2203	93.0	91.0	91.0		357	-3.5	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VTCN1	NM_024626.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/283	117699284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699284G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.357C>T	1.37:g.117699284G>A		True	False		Somatic	0				VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	p.N119N	NM_024626.3	NP_078902.2	WXS	Illumina HiSeq	Phase_I	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	435	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	119			Ig-like V-type 1.			Silent	SNP	ENST00000369458.3	37	c.357C>T	CCDS894.1																																																																																				0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	0	NM_024626		1:117699284
