#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
SGOL2	151246	broad.mit.edu	37	2	201438010	201438030	+	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-	rs192793098|rs375817690|rs535907885	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-	-	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENST00000357799.4	+	7	3039_3059	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	c.(2941-2961)aaagtagttaaaaaacgtaagdel	p.KVVKKRK981del		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	981					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT	0.308																																						ENST00000357799.4		NA																	1	Substitution - Missense(1)	p.V982E(1)	large_intestine(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2941-2961)aaagtagttaaaaaacgtaagdel		shugoshin-like 2 (S. pombe)																																				SO:0001651	inframe_deletion	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2941_2961delAAAGTAGTTAAAAAACGTAAG	2.37:g.201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENSP00000350447:p.Lys981_Lys987del	True	False		Somatic	1					p.KVVKKRK981del	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina HiSeq	Phase_I	Q562F6	SGOL2_HUMAN			7	3039_3059	+			981					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	In_Frame_Del	DEL	ENST00000357799.4	37	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	CCDS42796.1																																																																																				0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	NM_152524		2:201438010
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
BTN2A1	11120	broad.mit.edu	37	6	26458905	26458906	+	In_Frame_Ins	INS	-	-	CTTCCTCCT	rs554227538|rs140375890	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26458905_26458906insCTTCCTCCT	ENST00000312541.5	+	2	289_290	c.41_42insCTTCCTCCT	c.(40-45)tccctc>tcCTTCCTCCTcctc	p.14_15SL>SFLLL	BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000429381.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	14					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CGGCCAGCCTCCCTCCTCCTCC	0.584																																						ENST00000429381.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(40-45)tccctc>tcCTTCCTCCTcctc		butyrophilin, subfamily 2, member A1																																				SO:0001652	inframe_insertion	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458905_26458906insCTTCCTCCT	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	Exception_encountered	6.37:g.26458905_26458906insCTTCCTCCT	ENSP00000312158:p.Ser14_Leu15insPheLeuLeu	True	False		Somatic	0				BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_In_Frame_Ins_p.14_15SL>SFLLL	p.14_15SL>SFLLL			WXS	Illumina HiSeq	Phase_I	Q7KYR7	BT2A1_HUMAN			2	253_254	+			14					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	In_Frame_Ins	INS	ENST00000312541.5	37	c.41_42insCTTCCTCCT	CCDS4613.1																																																																																				0.584	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	0	NM_007049		6:26458905
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139102397	139102408	+	In_Frame_Del	DEL	GCAGCCGTAGCC	GCAGCCGTAGCC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	GCAGCCGTAGCC	GCAGCCGTAGCC	-	-	GCAGCCGTAGCC	GCAGCCGTAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:139102397_139102408delGCAGCCGTAGCC	ENST00000354926.4	+	9	1277_1288	c.923_934delGCAGCCGTAGCC	c.(922-936)agcagccgtagccgc>agc	p.SRSR309del	LUC7L2_ENST00000541515.3_In_Frame_Del_p.SRSR375del|C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SRSR306del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SRSR308del	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TCCCGCTCCAGCAGCCGTAGCCGCAGCCGTAG	0.547																																						ENST00000354926.4		NA																	0					NA						c.(922-936)agcagccgtagccgc>agc																																						SO:0001651	inframe_deletion	0							g.chr7:139102397_139102408delGCAGCCGTAGCC		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.923_934delGCAGCCGTAGCC	7.37:g.139102397_139102408delGCAGCCGTAGCC	ENSP00000347005:p.Ser309_Arg312del	False	False		Somatic	1				C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SRSR306del|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SRSR308del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SRSR375del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	p.SRSR309del	NM_016019.3	NP_057103.2	WXS	Illumina HiSeq	Phase_I					9	1277_1288	+			NA						In_Frame_Del	DEL	ENST00000354926.4	37	c.923_934delGCAGCCGTAGCC	CCDS43656.1																																																																																				0.547	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2	0			7:139102397
PARP10	84875	broad.mit.edu	37	8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	rs146902781	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000313028.7	-	4	549_575	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_In_Frame_Del_p.EQAQNLGLE152del|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648																																						ENST00000524918.1		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg		poly (ADP-ribose) polymerase family, member 10																																				SO:0001651	inframe_deletion	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	8.37:g.145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENSP00000325618:p.Glu152_Glu160del	False	False		Somatic	1				PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del	p.EQAQNLGLE152del			WXS	Illumina HiSeq	Phase_I	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	541_567	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		152					Q8N2I0|Q8WV05|Q96CH7|Q96K72	In_Frame_Del	DEL	ENST00000313028.7	37	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	CCDS34960.1																																																																																				0.648	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	0	NM_032789		8:145059772
XRRA1	143570	broad.mit.edu	37	11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C|XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGGCTGAGGCGGACAGTTGTG	0.592																																						ENST00000340360.6		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1639-1641)Cgc>Tgc		X-ray radiation resistance associated 1							76.0	80.0	79.0					11																	74559225		2152	4243	6395	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559225G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1639C>T	11.37:g.74559225G>A	ENSP00000339918:p.Arg547Cys	False	False		Somatic	0				XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	p.R547C	NM_182969.2	NP_892014.1	WXS	Illumina HiSeq	Phase_I	Q6P2D8	XRRA1_HUMAN			15	1970	-			547						Missense_Mutation	SNP	ENST00000340360.6	37	c.1639C>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575885	0.65878	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	4.29	4.29	0.51040	.	1.095810	0.06941	N	0.812752	T	0.58779	0.2146	L	0.51422	1.61	0.09310	N	0.999993	D;D;D;D;D;D;D	0.71674	0.968;0.998;0.995;0.987;0.995;0.994;0.995	B;P;P;P;P;P;P	0.56700	0.232;0.804;0.629;0.534;0.528;0.502;0.528	T	0.49184	-0.8966	10	0.42905	T	0.14	0.0617	12.5443	0.56190	0.0:0.0:1.0:0.0	.	547;149;103;460;491;157;533	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	C	547;272;533;491;460	ENSP00000339918:R547C;ENSP00000319303:R272C;ENSP00000435838:R460C	ENSP00000319303:R272C	R	-	1	0	XRRA1	74236873	0.009000	0.17119	0.162000	0.22713	0.094000	0.18550	1.762000	0.38451	2.678000	0.91216	0.591000	0.81541	CGC		0.592	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	0	NM_182969		11:74559225
SLC38A8	146167	broad.mit.edu	37	16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A	rs369350968		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	243					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGTTTGCGCATGCTGCAG	0.597																																						ENST00000299709.3		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(727-729)Cgc>Tgc		solute carrier family 38, member 8		T	CYS/ARG	1,4399		0,1,2199	77.0	60.0	66.0		727	-3.1	0.0	16		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC38A8	NM_001080442.1	180	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	243/436	84056458	2,12998	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056458G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.727C>T	16.37:g.84056458G>A	ENSP00000299709:p.Arg243Cys	False	False		Somatic	0					p.R243C	NM_001080442.1	NP_001073911.1	WXS	Illumina HiSeq	Phase_I	A6NNN8	S38A8_HUMAN			6	726	-			243						Missense_Mutation	SNP	ENST00000299709.3	37	c.727C>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	g	13.01	2.108896	0.37242	2.27E-4	1.16E-4	ENSG00000166558	ENST00000299709	T	0.02837	4.14	5.37	-3.06	0.05379	.	0.766355	0.13025	N	0.419743	T	0.05318	0.0141	L	0.59436	1.845	0.21105	N	0.999789	D	0.71674	0.998	P	0.53185	0.72	T	0.16897	-1.0387	10	0.54805	T	0.06	-11.8938	5.2133	0.15329	0.2249:0.0:0.3705:0.4045	.	243	A6NNN8	S38A8_HUMAN	C	243	ENSP00000299709:R243C	ENSP00000299709:R243C	R	-	1	0	SLC38A8	82613959	0.704000	0.27836	0.017000	0.16124	0.002000	0.02628	0.515000	0.22801	-0.448000	0.07128	-0.233000	0.12211	CGC		0.597	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	0	NM_001080442		16:84056458
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
HERC1	8925	broad.mit.edu	37	15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4604	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTTCCACACCAGAGGGGCC	0.502																																						ENST00000443617.2		NA																	0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13810-13812)Gtg>Ttg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							56.0	57.0	56.0					15																	63908760		1888	4124	6012	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908760C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13810G>T	15.37:g.63908760C>A	ENSP00000390158:p.Val4604Leu	False	False		Somatic	0					p.V4604L	NM_003922.3	NP_003913.3	WXS	Illumina HiSeq	Phase_I	Q15751	HERC1_HUMAN			75	13897	-			4604			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13810G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104026	0.94245	.	.	ENSG00000103657	ENST00000443617	T	0.56776	0.44	5.04	5.04	0.67666	HECT (4);	0.000000	0.64402	D	0.000003	T	0.65228	0.2671	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.66392	-0.5935	10	0.52906	T	0.07	.	18.7804	0.91930	0.0:1.0:0.0:0.0	.	4604	Q15751	HERC1_HUMAN	L	4604	ENSP00000390158:V4604L	ENSP00000390158:V4604L	V	-	1	0	HERC1	61695813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.555000	0.69702	GTG		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	0	NM_003922		15:63908760
POLR3E	55718	broad.mit.edu	37	16	22330215	22330215	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:22330215C>T	ENST00000299853.5	+	13	1101	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	312					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCTGTTCTGCGGGGCATCCA	0.478																																						ENST00000299853.5		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(934-936)Cgg>Tgg		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							110.0	108.0	109.0					16																	22330215		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22330215C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.934C>T	16.37:g.22330215C>T	ENSP00000299853:p.Arg312Trp	True	False		Somatic	0				POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W|POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W	p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	WXS	Illumina HiSeq	Phase_I	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	13	1101	+			312					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.934C>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437518	0.83885	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.72776	-0.4191	10	0.87932	D	0	-9.8146	20.1772	0.98182	0.0:1.0:0.0:0.0	.	256;276;312;312;312;312	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	W	312;312;276	ENSP00000299853:R312W;ENSP00000352140:R312W;ENSP00000399254:R276W	ENSP00000299853:R312W	R	+	1	2	POLR3E	22237716	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.494000	0.60347	2.778000	0.95560	0.655000	0.94253	CGG		0.478	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	0	NM_018119		16:22330215
ST18	9705	broad.mit.edu	37	8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	791					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGAGGGCATCCGGACAAGCTG	0.463																																						ENST00000276480.7		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2371-2373)Gga>Aga		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							115.0	112.0	113.0					8																	53045690		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045690C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2371G>A	8.37:g.53045690C>T	ENSP00000276480:p.Gly791Arg	False	False		Somatic	0					p.G791R	NM_014682.2	NP_055497.1	WXS	Illumina HiSeq	Phase_I	O60284	ST18_HUMAN			21	3054	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	791					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2371G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217661	0.95104	.	.	ENSG00000147488	ENST00000276480	T	0.69685	-0.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87848	0.2656	10	0.87932	D	0	-21.3142	20.2985	0.98592	0.0:1.0:0.0:0.0	.	791	O60284	ST18_HUMAN	R	791	ENSP00000276480:G791R	ENSP00000276480:G791R	G	-	1	0	ST18	53208243	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	0			8:53045690
ATG10	83734	broad.mit.edu	37	5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T	rs548892230		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	149					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACACTATTACGCAACAGGTT	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19557	0.0		0.0	False		,,,				2504	0.0					ENST00000282185.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(445-447)aCg>aTg		autophagy related 10							180.0	156.0	164.0					5																	81474399		2203	4300	6503	SO:0001583	missense	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81474399C>T	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.446C>T	5.37:g.81474399C>T	ENSP00000282185:p.Thr149Met	False	False		Somatic	0				ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	p.T149M	NM_031482.4	NP_113670.1	WXS	Illumina HiSeq	Phase_I	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	5	740	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	149					B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	c.446C>T	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431692	0.43122	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.55413	1.58;1.58;0.52	5.37	3.55	0.40652	Autophagy-related protein 3 (1);	0.159978	0.53938	D	0.000049	T	0.74481	0.3722	M	0.90145	3.09	0.42169	D	0.991636	D;D	0.89917	1.0;0.996	D;P	0.75484	0.986;0.863	T	0.77672	-0.2500	10	0.87932	D	0	-3.6582	10.2806	0.43537	0.0:0.7898:0.1361:0.0741	.	149;149	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	M	149	ENSP00000282185:T149M;ENSP00000404938:T149M;ENSP00000425225:T149M	ENSP00000282185:T149M	T	+	2	0	ATG10	81510155	0.996000	0.38824	0.685000	0.30070	0.300000	0.27592	3.737000	0.55060	0.725000	0.32318	0.305000	0.20034	ACG		0.433	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	0	NM_001131028		5:81474399
EPB41	2035	broad.mit.edu	37	1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|Y_RNA_ENST00000383977.1_RNA	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	92					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGGCCCAAATCTCAGGTGTCC	0.443																																						ENST00000343067.4		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(274-276)tCt>tAt		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126.0	122.0	124.0					1																	29314224		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314224C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.275C>A	1.37:g.29314224C>A	ENSP00000345259:p.Ser92Tyr	False	False		Somatic	0				EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y	p.S92Y	NM_001166005.1	NP_001159477.1	WXS	Illumina HiSeq	Phase_I	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	402	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	92					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.275C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817592	0.70912	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.89270	-2.39;-2.35;-2.23;-2.49;-2.39;-2.4	5.6	4.69	0.59074	.	0.246899	0.35646	N	0.003068	D	0.91181	0.7222	L	0.32530	0.975	0.41562	D	0.988632	D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.983;0.998;0.999;0.998	D	0.92387	0.5918	10	0.72032	D	0.01	.	15.2268	0.73357	0.1417:0.8583:0.0:0.0	.	92;92;92;92;92	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	Y	109;92;92;92;92;92;92;92;92	ENSP00000345259:S92Y;ENSP00000348397:S92Y;ENSP00000381839:S92Y;ENSP00000290100:S92Y;ENSP00000362904:S92Y;ENSP00000362903:S92Y	ENSP00000345259:S92Y	S	+	2	0	EPB41	29186811	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.161000	0.50747	1.375000	0.46248	-0.133000	0.14855	TCT		0.443	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	NM_203342		1:29314224
ASH1L	55870	broad.mit.edu	37	1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAATGTGGCAGCAAGACTT	0.368																																						ENST00000368346.3		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3079-3081)Gcc>Acc		ash1 (absent, small, or homeotic)-like (Drosophila)							71.0	74.0	73.0					1																	155449582		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449582C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3079G>A	1.37:g.155449582C>T	ENSP00000357330:p.Ala1027Thr	False	False		Somatic	0				ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T	p.A1027T			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3718	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1027					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3079G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732582	0.69189	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89864	0.4018	10	0.41790	T	0.15	.	18.7909	0.91974	0.0:1.0:0.0:0.0	.	1027;1027	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	1027	ENSP00000357330:A1027T;ENSP00000376204:A1027T	ENSP00000357330:A1027T	A	-	1	0	ASH1L	153716206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.773000	0.95371	0.655000	0.94253	GCC		0.368	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155449582
SMAD4	4089	broad.mit.edu	37	18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	96	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGATCTATGCCCGTCTCTGG	0.368																																						ENST00000342988.3		NA																	40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(286-288)gCc>gAc		SMAD family member 4							155.0	142.0	147.0					18																	48575093		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575093C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.287C>A	18.37:g.48575093C>A	ENSP00000341551:p.Ala96Asp	True	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR	p.A96D	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	825	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	96			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.287C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107210	0.94292	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78246	-1.16;-1.16;-1.16	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88383	0.3003	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	96	Q13485	SMAD4_HUMAN	D	96	ENSP00000409551:A96D;ENSP00000341551:A96D;ENSP00000381452:A96D	ENSP00000341551:A96D	A	+	2	0	SMAD4	46829091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.064000	0.71169	2.463000	0.83235	0.585000	0.79938	GCC		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48575093
CSMD1	64478	broad.mit.edu	37	8	2857619	2857619	+	Silent	SNP	G	G	A	rs141445155	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:2857619G>A	ENST00000520002.1	-	54	8622	c.8067C>T	c.(8065-8067)aaC>aaT	p.N2689N	CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000602557.1_Silent_p.N2689N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2689	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAATGTGACCGTTCACAATCG	0.443													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		15714	0.0		0.0	False		,,,				2504	0.0					ENST00000520002.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8065-8067)aaC>aaT		CUB and Sushi multiple domains 1		G		29,3761		0,29,1866	90.0	89.0	89.0		8064	-9.3	0.0	8	dbSNP_134	89	1,8239		0,1,4119	no	coding-synonymous	CSMD1	NM_033225.5		0,30,5985	AA,AG,GG		0.0121,0.7652,0.2494		2688/3565	2857619	30,12000	1895	4120	6015	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2857619G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8067C>T	8.37:g.2857619G>A		False	False		Somatic	0				CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000602557.1_Silent_p.N2689N|CSMD1_ENST00000542608.1_Silent_p.N2630N	p.N2689N			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8622	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2689			Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8067C>T		13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	G	0.259	-1.000873	0.02128	0.007652	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.77	-9.26	0.00662	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77094	-0.2715	4	.	.	.	.	21.0708	0.99945	0.8344:0.0:0.1656:0.0	.	.	.	.	W	2106	.	.	R	-	1	2	CSMD1	2845026	0.692000	0.27719	0.038000	0.18304	0.022000	0.10575	0.010000	0.13242	-2.591000	0.00456	-1.731000	0.00696	CGG		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:2857619
ZNF569	148266	broad.mit.edu	37	19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	159					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTCTCATAAGGCATTTCAC	0.333																																						ENST00000316950.6		NA																	0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(475-477)cTt>cAt		zinc finger protein 569							87.0	84.0	85.0					19																	37905084		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905084A>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.476T>A	19.37:g.37905084A>T	ENSP00000325018:p.Leu159His	False	False		Somatic	0				ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	p.L159H	NM_152484.2	NP_689697.2	WXS	Illumina HiSeq	Phase_I	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1033	-			159					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.476T>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332860	0.01298	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.37	1.09	0.20402	.	1.309050	0.05886	N	0.627427	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	.	2.6069	0.04880	0.4596:0.0:0.1298:0.4106	.	159	Q5MCW4	ZN569_HUMAN	H	159	ENSP00000325018:L159H	ENSP00000325018:L159H	L	-	2	0	ZNF569	42596924	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	0.045000	0.14013	0.060000	0.16281	0.482000	0.46254	CTT		0.333	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	0	NM_152484		19:37905084
NOTCH4	4855	broad.mit.edu	37	6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1038	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACCTGTGTGTCCAGGCAGA	0.622																																						ENST00000375023.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3112-3114)Cac>Gac		notch 4							53.0	39.0	44.0					6																	32171920		1510	2707	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171920G>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3112C>G	6.37:g.32171920G>C	ENSP00000364163:p.His1038Asp	True	False		Somatic	0					p.H1038D	NM_004557.3	NP_004548.3	WXS	Illumina HiSeq	Phase_I	Q99466	NOTC4_HUMAN			19	3250	-			1038			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3112C>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359258	0.41801	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.77	0.511	0.16989	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.469254	0.18037	N	0.153753	T	0.65386	0.2686	L	0.41492	1.28	0.80722	D	1	B	0.31599	0.33	B	0.19148	0.024	T	0.62595	-0.6821	10	0.72032	D	0.01	.	6.776	0.23621	0.5687:0.0:0.4313:0.0	.	1038	Q99466	NOTC4_HUMAN	D	1038	ENSP00000364163:H1038D	ENSP00000364163:H1038D	H	-	1	0	NOTCH4	32279898	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.363000	0.52321	0.202000	0.20498	0.561000	0.74099	CAC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	0			6:32171920
INPP4A	3631	broad.mit.edu	37	2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000523221.1	+	11	1127	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	376					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458																																						ENST00000409016.4		NA																	0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1126-1128)cGc>cAc		inositol polyphosphate-4-phosphatase, type I, 107kDa							64.0	64.0	64.0					2																	99163121		1903	4124	6027	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99163121G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1127G>A	2.37:g.99163121G>A	ENSP00000427722:p.Arg376His	False	False		Somatic	0				INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H	p.R376H			WXS	Illumina HiSeq	Phase_I	Q96PE3	INP4A_HUMAN			13	1524	+			NA					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1127G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523740	0.96431	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.43637	-0.9379	10	0.12430	T	0.62	-21.0946	18.117	0.89559	0.0:0.0:1.0:0.0	.	376;376;376;376	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	H	376	ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H	ENSP00000074304:R376H	R	+	2	0	INPP4A	98529553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.757000	0.94681	0.655000	0.94253	CGC		0.458	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	0	NM_001566		2:99163121
MYO18B	84700	broad.mit.edu	37	22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000407587.2	+	8	2222	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000335473.7_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	685	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCAGTGTGGATGGCAGGGT	0.587																																						ENST00000335473.7		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2053-2055)Gat>Cat		myosin XVIIIB							91.0	102.0	98.0					22																	26173733		2100	4223	6323	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173733G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2053G>C	22.37:g.26173733G>C	ENSP00000386096:p.Asp685His	False	False		Somatic	0				MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H|MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H	p.D685H	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			8	2303	+			685			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117718	0.37339	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87491	-2.26;-2.26;-2.26	5.41	4.39	0.52855	Myosin head, motor domain (2);	0.199793	0.41938	D	0.000795	D	0.91355	0.7273	L	0.58101	1.795	0.40199	D	0.977491	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.75484	0.962;0.986;0.976;0.976	D	0.91923	0.5549	10	0.59425	D	0.04	.	13.2306	0.59941	0.0762:0.0:0.9238:0.0	.	198;685;685;685	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	685	ENSP00000441229:D685H;ENSP00000334563:D685H;ENSP00000386096:D685H	ENSP00000334563:D685H	D	+	1	0	MYO18B	24503733	1.000000	0.71417	0.993000	0.49108	0.145000	0.21501	3.357000	0.52277	1.282000	0.44496	0.655000	0.94253	GAT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26173733
OR13F1	138805	broad.mit.edu	37	9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418																																						ENST00000334726.2		NA																	0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(835-837)gCc>gTc		olfactory receptor, family 13, subfamily F, member 1							74.0	73.0	74.0					9																	107267379		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267379C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.836C>T	9.37:g.107267379C>T	ENSP00000334452:p.Ala279Val	False	False		Somatic	0					p.A279V	NM_001004485.1	NP_001004485.1	WXS	Illumina HiSeq	Phase_I	Q8NGS4	O13F1_HUMAN			1	925	+			279					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.836C>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822838	0.16678	.	.	ENSG00000186881	ENST00000334726	T	0.00063	8.78	4.3	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.231740	0.05909	N	0.631330	T	0.00210	0.0006	L	0.45137	1.4	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.49418	-0.8942	10	0.72032	D	0.01	.	12.8128	0.57649	0.0:0.6638:0.3362:0.0	.	279	Q8NGS4	O13F1_HUMAN	V	279	ENSP00000334452:A279V	ENSP00000334452:A279V	A	+	2	0	OR13F1	106307200	0.000000	0.05858	0.501000	0.27601	0.197000	0.23852	0.950000	0.29122	0.740000	0.32651	0.655000	0.94253	GCC		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	0			9:107267379
CABIN1	23523	broad.mit.edu	37	22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T	rs200916276	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	253					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATTGTGCGGGAGAAGGA	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19052	0.001		0.0	False		,,,				2504	0.001					ENST00000398319.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(757-759)Cgg>Tgg		calcineurin binding protein 1							114.0	99.0	104.0					22																	24447387		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24447387C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.757C>T	22.37:g.24447387C>T	ENSP00000381364:p.Arg253Trp	True	False		Somatic	0				CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	p.R253W	NM_001199281.1	NP_001186210.1	WXS	Illumina HiSeq	Phase_I	Q9Y6J0	CABIN_HUMAN			8	1142	+			253					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.757C>T	CCDS13823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.86	3.492173	0.64074	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T	0.62364	0.38;0.03;0.38;0.03	5.32	3.11	0.35812	.	0.176588	0.51477	D	0.000099	T	0.65396	0.2687	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.987	P;P;B	0.51945	0.685;0.606;0.394	T	0.68526	-0.5385	10	0.72032	D	0.01	.	13.6165	0.62110	0.2825:0.7175:0.0:0.0	.	208;253;253	C9J068;F5H5W5;Q9Y6J0	.;.;CABIN_HUMAN	W	208;253;208;253;253	ENSP00000394209:R208W;ENSP00000263119:R253W;ENSP00000412389:R208W;ENSP00000381364:R253W	ENSP00000263119:R253W	R	+	1	2	CABIN1	22777387	1.000000	0.71417	0.517000	0.27799	0.631000	0.37964	2.925000	0.48884	0.672000	0.31204	0.551000	0.68910	CGG		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	0	NM_012295		22:24447387
DIAPH1	1729	broad.mit.edu	37	5	140963181	140963181	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140963181C>T	ENST00000398557.4	-	5	544	c.404G>A	c.(403-405)gGc>gAc	p.G135D	DIAPH1_ENST00000253811.6_Splice_Site_p.G135D|DIAPH1_ENST00000398566.3_Splice_Site_p.G126D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	135	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTCATGCCCTAGACAGA	0.423																																						ENST00000253811.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(403-405)gGc>gAc		diaphanous-related formin 1							96.0	98.0	97.0					5																	140963181		1944	4135	6079	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963181C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.403-1G>A	5.37:g.140963181C>T		True	False		Somatic	0				DIAPH1_ENST00000398566.3_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D|DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000398557.4_Splice_Site_p.G135D	p.G135D			WXS	Illumina HiSeq	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	544	-			135			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	c.404G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839182	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.72	5.72	0.89469	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.144419	0.45126	D	0.000397	D	0.90566	0.7043	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89389	0.3687	10	0.38643	T	0.18	.	18.65	0.91427	0.0:1.0:0.0:0.0	.	126;135	E9PEZ2;O60610	.;DIAP1_HUMAN	D	135;81;126;126;126;135;135;126;81	ENSP00000373706:G135D;ENSP00000429282:G81D;ENSP00000381570:G126D;ENSP00000373709:G126D;ENSP00000381572:G126D;ENSP00000381565:G135D;ENSP00000253811:G135D;ENSP00000428268:G126D;ENSP00000430587:G81D	ENSP00000253811:G135D	G	-	2	0	DIAPH1	140943365	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	6.567000	0.73983	2.705000	0.92388	0.585000	0.79938	GGC		0.423	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_005219	Missense_Mutation	5:140963181
CGREF1	10669	broad.mit.edu	37	2	27327322	27327322	+	Intron	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:27327322C>A	ENST00000260595.5	-	2	282				CGREF1_ENST00000404694.3_Missense_Mutation_p.L93F|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000402394.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTAGACACAAGCGCATTT	0.547																																						ENST00000404694.3		NA																	0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(277-279)ttG>ttT		cell growth regulator with EF-hand domain 1																																				SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27327322C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.11-77G>T	2.37:g.27327322C>A		False	False		Somatic	0				CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000452318.2_Intron	p.L93F			WXS	Illumina HiSeq	Phase_I	Q99674	CGRE1_HUMAN			1	283	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			EF-hand 1.		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	C	10.68	1.418059	0.25552	.	.	ENSG00000138028	ENST00000404694	D	0.81908	-1.55	3.84	1.93	0.25924	.	.	.	.	.	T	0.70150	0.3191	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53507	-0.8429	7	.	.	.	.	10.3284	0.43807	0.0:0.4775:0.5225:0.0	.	93	B5MCC9	.	F	93	ENSP00000385574:L93F	.	L	-	3	2	CGREF1	27180826	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.264000	0.18497	0.538000	0.28769	-0.310000	0.09108	TTG		0.547	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		0	NM_006569		2:27327322
LRRC36	55282	broad.mit.edu	37	16	67397524	67397524	+	Silent	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	203										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCCTTCCCCAACCGGGAAA	0.428																																						ENST00000329956.6		NA																	0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(607-609)ccC>ccG		leucine rich repeat containing 36							105.0	97.0	99.0					16																	67397524		2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67397524C>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.609C>G	16.37:g.67397524C>G		True	False		Somatic	0				LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000435835.3_Silent_p.P82P	p.P203P	NM_018296.5	NP_060766.5	WXS	Illumina HiSeq	Phase_I	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	6	628	+		Ovarian(137;0.192)	203					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.609C>G	CCDS32467.1																																																																																				0.428	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	0	NM_018296		16:67397524
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000269305.4	-	5	617	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000420246.2_Missense_Mutation_p.V143E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E	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	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(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)	CCACAGCTGCACAGGGCAGGT	0.587		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"""		42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(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						c.(427-429)gTg>gAg	Other conserved DNA damage response genes	tumor protein p53							57.0	56.0	56.0					17																	7578502		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578502A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.428T>A	17.37:g.7578502A>T	ENSP00000269305:p.Val143Glu	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E	p.V143E	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)	5	560	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.428T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333767	0.41297	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.48975	D	0.99973	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.993;0.996;0.999;0.999;0.996	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143E;ENSP00000352610:V143E;ENSP00000269305:V143E;ENSP00000398846:V143E;ENSP00000391127:V143E;ENSP00000391478:V143E;ENSP00000425104:V11E;ENSP00000423862:V50E;ENSP00000424104:V143E	ENSP00000269305:V143E	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578502
MYH1	4619	broad.mit.edu	37	17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A	rs202246274		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTTCACCGTCTGTTCCAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5		NA																	0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5377-5379)aCg>aTg		myosin, heavy chain 1, skeletal muscle, adult							153.0	146.0	149.0					17																	10398336		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398336G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5378C>T	17.37:g.10398336G>A	ENSP00000226207:p.Thr1793Met	False	False		Somatic	0				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.T1793M	NM_005963.3	NP_005954.3	WXS	Illumina HiSeq	Phase_I	P12882	MYH1_HUMAN			37	5472	-			1793					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5378C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126300	0.77549	.	.	ENSG00000109061	ENST00000226207	T	0.78126	-1.15	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44483	U	0.000455	D	0.86280	0.5895	H	0.95745	3.715	0.58432	D	0.999997	B	0.29037	0.231	B	0.31869	0.137	D	0.87462	0.2408	10	0.72032	D	0.01	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1793	P12882	MYH1_HUMAN	M	1793	ENSP00000226207:T1793M	ENSP00000226207:T1793M	T	-	2	0	MYH1	10339061	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	9.809000	0.99208	2.616000	0.88540	0.561000	0.74099	ACG		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	0	NM_005963		17:10398336
ZNF551	90233	broad.mit.edu	37	19	58199361	58199361	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:58199361G>T	ENST00000282296.5	+	3	1903	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I			Q7Z340	ZN551_HUMAN	zinc finger protein 551	573					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAAGTGCTAGCCTCATTCAA	0.458																																						ENST00000282296.5		NA																	0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1717-1719)aGc>aTc		zinc finger protein 551							83.0	83.0	83.0					19																	58199361		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199361G>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1718G>T	19.37:g.58199361G>T	ENSP00000282296:p.Ser573Ile	False	False		Somatic	0				ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.S573I			WXS	Illumina HiSeq	Phase_I	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1903	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	573					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1718G>T	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889440|1.889440	0.33348|0.33348	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.79|2.79	-5.0|-5.0	0.03001|0.03001	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.32467	.|0.372	.|B	.|0.35727	.|0.209	T|T	0.27365|0.27365	-1.0076|-1.0076	6|8	0.33141|0.48119	T|T	0.24|0.1	.|.	1.0859|1.0859	0.01652|0.01652	0.2596:0.2992:0.2915:0.1497|0.2596:0.2992:0.2915:0.1497	.|.	.|573	.|Q7Z340	.|ZN551_HUMAN	D|I	15|573;557;356	.|.	ENSP00000437781:A15D|ENSP00000282296:S557I	A|S	-|+	2|2	0|0	AC004017.1|ZNF551	62891173|62891173	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-3.227000|-3.227000	0.00549|0.00549	-0.968000|-0.968000	0.03578|0.03578	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.458	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	0	NM_138347		19:58199361
TUBGCP3	10426	broad.mit.edu	37	13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A	rs536973080		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	907					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGAGCTTCACGTGTGGGAGCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.001					ENST00000261965.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2719-2721)aCg>aTg		tubulin, gamma complex associated protein 3							13.0	12.0	12.0					13																	113140311		2196	4280	6476	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113140311G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2720C>T	13.37:g.113140311G>A	ENSP00000261965:p.Thr907Met	False	False		Somatic	0					p.T907M	NM_006322.4	NP_006313.1	WXS	Illumina HiSeq	Phase_I	Q96CW5	GCP3_HUMAN			22	2906	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		907					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2720C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152609	0.38021	.	.	ENSG00000126216	ENST00000261965	T	0.24350	1.86	4.64	1.7	0.24286	.	0.391386	0.28618	N	0.014706	T	0.11324	0.0276	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	10	0.41790	T	0.15	.	6.8525	0.24022	0.5149:0.0:0.4851:0.0	.	897;907	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	907	ENSP00000261965:T907M	ENSP00000261965:T907M	T	-	2	0	TUBGCP3	112188312	1.000000	0.71417	0.566000	0.28421	0.740000	0.42216	3.101000	0.50283	0.420000	0.25954	0.655000	0.94253	ACG		0.597	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	0	NM_006322		13:113140311
CTSS	1520	broad.mit.edu	37	1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	218					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACGATATTTTGAGTCATA	0.393																																						ENST00000368985.3		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(652-654)aAa>aCa		cathepsin S							104.0	89.0	94.0					1																	150722622		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150722622T>G	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.653A>C	1.37:g.150722622T>G	ENSP00000357981:p.Lys218Thr	True	False		Somatic	0				CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	p.K218T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	WXS	Illumina HiSeq	Phase_I	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		6	913	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.653A>C	CCDS968.1	.	.	.	.	.	.	.	.	.	.	T	5.005	0.186606	0.09547	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97598	-4.45;1.98	5.45	3.18	0.36537	Peptidase C1A, papain C-terminal (2);	0.409268	0.29668	N	0.011514	T	0.78534	0.4298	N	0.02213	-0.635	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.005;0.01	T	0.73107	-0.4087	10	0.20046	T	0.44	.	6.2497	0.20839	0.0:0.0981:0.3428:0.5592	.	168;218	B4DWC9;P25774	.;CATS_HUMAN	T	168;218	ENSP00000408414:K168T;ENSP00000357981:K218T	ENSP00000357981:K218T	K	-	2	0	CTSS	148989246	0.000000	0.05858	0.088000	0.20740	0.438000	0.31896	0.260000	0.18424	0.910000	0.36722	0.383000	0.25322	AAA		0.393	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	0	NM_004079		1:150722622
PPIP5K1	9677	broad.mit.edu	37	15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000396923.3	-	28	3428	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1103					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CGTAGGGAAAGGGCATTATGC	0.478																																						ENST00000420765.1		NA																	0				large_intestine(1)	1						c.(3307-3309)Ctt>Gtt		diphosphoinositol pentakisphosphate kinase 1							156.0	135.0	142.0					15																	43851071		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43851071G>C	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3307C>G	15.37:g.43851071G>C	ENSP00000380129:p.Leu1103Val	True	False		Somatic	0				PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V	p.L1103V	NM_001130858.2	NP_001124330.1	WXS	Illumina HiSeq	Phase_I	Q6PFW1	VIP1_HUMAN			29	3489	-			1103					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3307C>G	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284077	0.80803	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.58060	0.56;0.36;2.25;0.36;0.56;0.56;0.52;2.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.76170	2.325	0.37898	D	0.930941	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76410	-0.2969	10	0.59425	D	0.04	-13.5751	19.609	0.95594	0.0:0.0:1.0:0.0	.	1036;1103;1100;1078	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	V	1099;1078;1036;1078;1103;1103;1078;1103;1079;1036;999	ENSP00000371309:L1099V;ENSP00000353446:L1078V;ENSP00000353253:L1036V;ENSP00000334779:L1078V;ENSP00000380129:L1103V;ENSP00000400887:L1103V;ENSP00000371303:L1079V;ENSP00000308773:L1036V	ENSP00000304750:L1103V	L	-	1	0	PPIP5K1	41638363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.882000	0.98803	0.655000	0.94253	CTT		0.478	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	0	NM_014659		15:43851071
ZNF280D	54816	broad.mit.edu	37	15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000267807.7	-	16	2168	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	651					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(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAGTGTTGTATCTGCAAAA	0.358																																						ENST00000559237.1		NA																	0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1912-1914)tAc>tGc		zinc finger protein 280D							109.0	105.0	106.0					15																	56958635		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958635T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1952A>G	15.37:g.56958635T>C	ENSP00000267807:p.Tyr651Cys	False	False		Somatic	0				ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	p.Y638C	NM_001002843.1	NP_001002843.1	WXS	Illumina HiSeq	Phase_I	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	15	2596	-			651					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1913A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205782	0.58234	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.16324	2.35;3.21	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);	0.660622	0.11753	U	0.532867	T	0.41511	0.1162	M	0.76574	2.34	0.39244	D	0.963911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.27971	-1.0058	10	0.87932	D	0	-20.1193	9.5114	0.39078	0.1573:0.0:0.0:0.8427	.	714;651	B4DHL1;Q6N043	.;Z280D_HUMAN	C	651;638;355	ENSP00000267807:Y651C;ENSP00000379545:Y355C	ENSP00000267807:Y651C	Y	-	2	0	ZNF280D	54745927	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.396000	0.66297	1.983000	0.57843	0.383000	0.25322	TAC		0.358	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	0	XM_370867		15:56958635
KCTD19	146212	broad.mit.edu	37	16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C	rs373584218		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	273					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGGGCCCCCTTCCCGGGGCT	0.642																																						ENST00000304372.5		NA																	0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(817-819)aAg>aGg		potassium channel tetramerization domain containing 19							63.0	70.0	68.0					16																	67333434		1887	4112	5999	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333434T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.818A>G	16.37:g.67333434T>C	ENSP00000305702:p.Lys273Arg	True	False		Somatic	0				KCTD19_ENST00000562860.1_5'UTR	p.K273R	NM_001100915.1	NP_001094385.1	WXS	Illumina HiSeq	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	873	-		Ovarian(137;0.192)	273					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.818A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579355	0.46006	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	5.77	0.91146	.	0.173060	0.41396	D	0.000893	T	0.40670	0.1126	N	0.14661	0.345	0.30590	N	0.761602	B	0.21753	0.06	B	0.19946	0.027	T	0.41466	-0.9507	10	0.34782	T	0.22	-27.9066	12.7641	0.57383	0.0:0.0:0.0:1.0	.	273	Q17RG1	KCD19_HUMAN	R	273	ENSP00000305702:K273R	ENSP00000305702:K273R	K	-	2	0	KCTD19	65890935	0.994000	0.37717	0.982000	0.44146	0.313000	0.28021	3.595000	0.54016	2.326000	0.78906	0.533000	0.62120	AAG		0.642	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	XM_085367		16:67333434
NELFB	25920	broad.mit.edu	37	9	140160826	140160826	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:140160826G>C	ENST00000343053.4	+	8	1380	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	348					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGGCGCTGGGCCAGGGAGCC	0.662																																						ENST00000343053.4		NA																	0					NA						c.(1042-1044)gGc>gCc		negative elongation factor complex member B							34.0	32.0	33.0					9																	140160826		2199	4289	6488	SO:0001583	missense	25920							g.chr9:140160826G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1043G>C	9.37:g.140160826G>C	ENSP00000339495:p.Gly348Ala	True	False		Somatic	0					p.G348A	NM_015456.3	NP_056271.2	WXS	Illumina HiSeq	Phase_I					8	1380	+			NA					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1043G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879657	0.91740	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79492	-0.1781	9	0.72032	D	0.01	-52.4541	17.637	0.88125	0.0:0.0:1.0:0.0	.	348	Q8WX92	NELFB_HUMAN	A	348	.	ENSP00000339495:G348A	G	+	2	0	COBRA1	139280647	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.442000	0.73443	2.506000	0.84524	0.491000	0.48974	GGC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	0	NM_015456		9:140160826
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	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_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_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
PDE1C	5137	broad.mit.edu	37	7	31864537	31864537	+	Silent	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:31864537C>A	ENST00000396191.1	-	13	1805	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PDE1C_ENST00000396184.3_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000321453.7_Silent_p.V450V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	450	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTAATGGACTCACAATCTTCT	0.507																																						ENST00000396184.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1348-1350)gtG>gtT		phosphodiesterase 1C, calmodulin-dependent 70kDa							186.0	156.0	166.0					7																	31864537		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864537C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1350G>T	7.37:g.31864537C>A		False	False		Somatic	0				PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000396191.1_Silent_p.V450V	p.V450V	NM_005020.2	NP_005011.1	WXS	Illumina HiSeq	Phase_I	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	1554	-			450			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1350G>T	CCDS55099.1																																																																																				0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1	0			7:31864537
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	rs199890203	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527																																						ENST00000393567.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11269-11271)Gta>Ata		HYDIN, axonemal central pair apparatus protein		C	ILE/VAL	0,3784		0,0,1892	42.0	43.0	42.0		11266	-7.5	0.0	16		42	6,8214		0,6,4104	yes	missense	HYDIN	NM_032821.2	29	0,6,5996	TT,TC,CC		0.073,0.0,0.05	probably-damaging	3756/5121	70902514	6,11998	1892	4110	6002	SO:0001583	missense	54768							g.chr16:70902514C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11269G>A	16.37:g.70902514C>T	ENSP00000377197:p.Val3757Ile	False	False		Somatic	0					p.V3757I	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			66	11419	-		Ovarian(137;0.0654)	3757					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11269G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992987	0.54041	0.0	7.3E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.17	-7.53	0.01336	.	1.450790	0.06162	N	0.676024	T	0.00695	0.0023	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	B	0.37047	0.24	T	0.46414	-0.9193	10	0.33940	T	0.23	.	1.2147	0.01912	0.2597:0.2713:0.0911:0.3779	.	3756	F8WD23	.	I	3757;3756	ENSP00000377197:V3757I	ENSP00000313052:V3756I	V	-	1	0	HYDIN	69460015	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.004000	0.01461	-0.941000	0.03700	-0.294000	0.09567	GTA		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:70902514
STAT1	6772	broad.mit.edu	37	2	191859901	191859901	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859901A>T	ENST00000361099.3	-	10	1217	c.830T>A	c.(829-831)cTt>cAt	p.L277H	STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAACTTTTTAAGCTGCTGCCG	0.458																																						ENST00000361099.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)cTt>cAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153.0	131.0	138.0					2																	191859901		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859901A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.830T>A	2.37:g.191859901A>T	ENSP00000354394:p.Leu277His	False	False		Somatic	0				STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	p.L277H	NM_007315.3	NP_009330.1	WXS	Illumina HiSeq	Phase_I	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1217	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.830T>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588409	0.86851	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.66	5.66	0.87406	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86536	0.1825	10	0.87932	D	0	-19.3136	15.9051	0.79423	1.0:0.0:0.0:0.0	.	277;277	P42224-2;P42224	.;STAT1_HUMAN	H	277;277;277;279	ENSP00000354394:L277H;ENSP00000386244:L277H;ENSP00000376136:L277H;ENSP00000376137:L279H	ENSP00000354394:L277H	L	-	2	0	STAT1	191568146	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	9.189000	0.94928	2.151000	0.67156	0.455000	0.32223	CTT		0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	0	NM_007315		2:191859901
BCAS1	8537	broad.mit.edu	37	20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A	rs201134866	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	530						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGTGTCCACCGTGGCCTGCTC	0.562													G|||	6	0.00119808	0.0	0.0	5008	,	,		18474	0.006		0.0	False		,,,				2504	0.0					ENST00000395961.3		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1588-1590)aCg>aTg		breast carcinoma amplified sequence 1							240.0	187.0	205.0					20																	52570062		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570062G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1589C>T	20.37:g.52570062G>A	ENSP00000379290:p.Thr530Met	False	False		Somatic	0				BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M|BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M	p.T530M	NM_003657.2	NP_003648.2	WXS	Illumina HiSeq	Phase_I	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1755	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		530					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1589C>T	CCDS13444.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	13.51|13.51	2.259581|2.259581	0.39995|0.39995	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.32515	.|2.15;2.41;2.45;2.41;1.45	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	.|1.843200	.|0.02444	.|N	.|0.084842	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;D;D	.|0.64830	.|0.067;0.209;0.067;0.239;0.994;0.994	.|B;B;B;B;P;P	.|0.51833	.|0.016;0.055;0.016;0.057;0.681;0.681	T|T	0.50448|0.50448	-0.8827|-0.8827	5|10	.|0.44086	.|T	.|0.13	2.3235|2.3235	4.623|4.623	0.12465|0.12465	0.5131:0.2359:0.1717:0.0793|0.5131:0.2359:0.1717:0.0793	.|.	.|530;196;539;452;530;530	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|M	193|401;539;330;530;452;196	.|ENSP00000396361:T401M;ENSP00000360495:T539M;ENSP00000379290:T530M;ENSP00000360490:T452M;ENSP00000409956:T196M	.|ENSP00000360490:T452M	R|T	-|-	1|2	2|0	BCAS1|BCAS1	52003469|52003469	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.697000|-1.697000	0.01910|0.01910	-2.036000|-2.036000	0.00922|0.00922	-0.228000|-0.228000	0.12330|0.12330	CGG|ACG		0.562	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	0	NM_003657		20:52570062
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5		NA																	5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C		False	False		Somatic	0					p.N336N	NM_005435.3	NP_005426.2	WXS	Illumina HiSeq	Phase_I	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	NM_005435		7:144060770
HMGB2	3148	broad.mit.edu	37	4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2	178					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GAGCCTGTTGGCCTGCCAGGG	0.433																																						ENST00000296503.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(532-534)Cca>Tca		high mobility group box 2							175.0	158.0	164.0					4																	174253329		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253329G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.532C>T	4.37:g.174253329G>A	ENSP00000296503:p.Pro178Ser	False	False		Somatic	0				HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S	p.P178S			WXS	Illumina HiSeq	Phase_I	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1405	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	178					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.532C>T	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946710	0.34377	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.94758	-3.51;-3.51;-3.51	5.9	4.2	0.49525	.	0.105398	0.42682	N	0.000667	D	0.88340	0.6410	L	0.28192	0.835	0.54753	D	0.999982	B	0.12013	0.005	B	0.06405	0.002	T	0.81147	-0.1065	10	0.22109	T	0.4	.	9.8684	0.41160	0.2071:0.0:0.7929:0.0	.	178	P26583	HMGB2_HUMAN	S	178	ENSP00000296503:P178S;ENSP00000393448:P178S;ENSP00000404912:P178S	ENSP00000296503:P178S	P	-	1	0	HMGB2	174489904	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.668000	0.68074	0.841000	0.35020	-0.145000	0.13849	CCA		0.433	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	0	NM_001130688		4:174253329
MYO18B	84700	broad.mit.edu	37	22	26173732	26173732	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000407587.2	+	8	2221	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000335473.7_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	684	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGCAGTGTGGATGGCAGGG	0.592																																						ENST00000335473.7		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2050-2052)gtG>gtA		myosin XVIIIB							91.0	102.0	98.0					22																	26173732		2103	4223	6326	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173732G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2052G>A	22.37:g.26173732G>A		False	False		Somatic	0				MYO18B_ENST00000536101.1_Silent_p.V684V|MYO18B_ENST00000407587.2_Silent_p.V684V	p.V684V	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			8	2302	+			684			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2052G>A																																																																																					0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26173732
REXO1L1P	254958	broad.mit.edu	37	8	86573803	86573803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:86573803C>T	ENST00000379010.2	-	1	1923	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GCGCTTGCGTCCTCGCTGGAG	0.672																																						ENST00000379010.2		NA																	0				endometrium(1)|lung(4)	5						c.(1924-1926)Gac>Aac		REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1							5.0	5.0	5.0					8																	86573803		1837	3765	5602	SO:0001583	missense	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573803C>T																												ENST00000379010.2:c.1924G>A	8.37:g.86573803C>T	ENSP00000368295:p.Asp642Asn	False	False		Somatic	0					p.D642N	NM_172239.4	NP_758439.4	WXS	Illumina HiSeq	Phase_I	Q8IX06	GOR_HUMAN			1	1923	-			642						Missense_Mutation	SNP	ENST00000379010.2	37	c.1924G>A		.	.	.	.	.	.	.	.	.	.	C	13.85	2.361495	0.41801	.	.	ENSG00000205176	ENST00000379010	D	0.92099	-2.97	0.793	0.793	0.18632	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	U	0.000000	D	0.95114	0.8417	M	0.90198	3.095	0.09310	N	1	D	0.65815	0.995	D	0.73380	0.98	D	0.87512	0.2440	10	0.54805	T	0.06	.	4.7632	0.13118	0.0:1.0:0.0:0.0	.	642	Q8IX06	GOR_HUMAN	N	642	ENSP00000368295:D642N	ENSP00000368295:D642N	D	-	1	0	REXO1L1	86761055	0.182000	0.23173	0.021000	0.16686	0.021000	0.10359	1.297000	0.33400	0.191000	0.20236	0.194000	0.17425	GAC		0.672	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1	0			8:86573803
HIST2H3D	653604	broad.mit.edu	37	1	149784858	149784858	+	Silent	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:149784858A>G	ENST00000331491.1	-	1	378	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L	HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGCGGGCCAACTGGATGTCC	0.587																																						ENST00000331491.1		NA																	0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(379-381)Ttg>Ctg		histone cluster 2, H3d							48.0	50.0	50.0					1																	149784858		1568	3581	5149	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784858A>G	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.379T>C	1.37:g.149784858A>G		False	False		Somatic	0					p.L127L	NM_001123375.2	NP_001116847.1	WXS	Illumina HiSeq	Phase_I	Q71DI3	H32_HUMAN			1	378	-			127					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.379T>C	CCDS41388.1																																																																																				0.587	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	0	NM_001123375		1:149784858
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTGGCCTCGTCCATGATGA	0.577																																						ENST00000302539.4		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4516-4518)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						74.0	72.0	73.0					11																	17415843		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415843G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4515C>T	11.37:g.17415843G>A		False	False		Somatic	0				ABCC8_ENST00000389817.3_Silent_p.D1505D	p.D1506D	NM_000352.3	NP_000343.2	WXS	Illumina HiSeq	Phase_I	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4643	-			1505		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).	ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.4518C>T	CCDS31437.1																																																																																				0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	0	NM_000352		11:17415843
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G	rs202046449		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACATATGTGATCTCTGTACCT	0.517																																						ENST00000425901.2		NA																	0					NA																																														0							g.chr17:37188577T>G			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188577T>G		False	False		Somatic	0						NR_033753.2		WXS	Illumina HiSeq	Phase_I					0	2419	+			NA						RNA	SNP	ENST00000425901.2	37																																																																																						0.517	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	0	NR_033753		17:37188577
STYK1	55359	broad.mit.edu	37	12	10772786	10772786	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:10772786C>T	ENST00000075503.3	-	11	1746	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	409						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTCTGATGCCGGCCACAGC	0.478										HNSCC(73;0.22)																												ENST00000075503.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1225-1227)gGc>gAc		serine/threonine/tyrosine kinase 1							162.0	156.0	158.0					12																	10772786		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772786C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1226G>A	12.37:g.10772786C>T	ENSP00000075503:p.Gly409Asp	False	False	HNSCC(73;0.22)	Somatic	0					p.G409D	NM_018423.2	NP_060893.2	WXS	Illumina HiSeq	Phase_I	Q6J9G0	STYK1_HUMAN			11	1746	-			409					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1226G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342481	0.81911	.	.	ENSG00000060140	ENST00000075503	T	0.78364	-1.17	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	D	0.87075	0.6087	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.88527	0.3100	10	0.72032	D	0.01	-13.5645	15.6766	0.77332	0.0:1.0:0.0:0.0	.	409	Q6J9G0	STYK1_HUMAN	D	409	ENSP00000075503:G409D	ENSP00000075503:G409D	G	-	2	0	STYK1	10664053	0.997000	0.39634	0.992000	0.48379	0.969000	0.65631	5.025000	0.64097	2.279000	0.76181	0.563000	0.77884	GGC		0.478	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	0	NM_018423		12:10772786
ZNF423	23090	broad.mit.edu	37	16	49672109	49672109	+	Silent	SNP	G	G	A	rs377569533		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000562520.1_Silent_p.H258H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	318					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTGGTTGGCGTGGGCTTGGT	0.617																																						ENST00000561648.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(952-954)caC>caT		zinc finger protein 423		G		0,4396		0,0,2198	120.0	87.0	98.0		954	1.9	1.0	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		318/1285	49672109	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672109G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.954C>T	16.37:g.49672109G>A		False	False		Somatic	0				ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000567169.1_Silent_p.H201H	p.H318H	NM_001271620.1	NP_001258549.1	WXS	Illumina HiSeq	Phase_I	Q2M1K9	ZN423_HUMAN			4	1007	-		all_cancers(37;0.0155)	318					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.954C>T	CCDS32445.1																																																																																				0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	0	NM_015069		16:49672109
DCC	1630	broad.mit.edu	37	18	50450207	50450207	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	276	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTACGAGGCGAGGAAGTCA	0.373																																						ENST00000442544.2		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(826-828)ggC>ggT		deleted in colorectal carcinoma							123.0	101.0	108.0					18																	50450207		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450207C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.828C>T	18.37:g.50450207C>T		True	False		Somatic	0				DCC_ENST00000412726.1_Silent_p.G124G	p.G276G	NM_005215.3	NP_005206.2	WXS	Illumina HiSeq	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1444	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	276			Ig-like C2-type 3.			Silent	SNP	ENST00000442544.2	37	c.828C>T	CCDS11952.1																																																																																				0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	0	NM_005215		18:50450207
OR2G2	81470	broad.mit.edu	37	1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A	rs372540193		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527																																						ENST00000320065.1		NA																	0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(286-288)Gcc>Acc		olfactory receptor, family 2, subfamily G, member 2		A	THR/ALA	0,4406		0,0,2203	194.0	157.0	169.0		286	-1.9	0.8	1		169	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2G2	NM_001001915.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	96/318	247751947	1,13005	2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751947G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.286G>A	1.37:g.247751947G>A	ENSP00000326349:p.Ala96Thr	False	False		Somatic	0				RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.A96T	NM_001001915.1	NP_001001915.1	WXS	Illumina HiSeq	Phase_I	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	286	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		96					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.286G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	3.757	-0.050345	0.07407	0.0	1.16E-4	ENSG00000177489	ENST00000320065	T	0.01084	5.36	4.29	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.226724	0.21845	N	0.068280	T	0.00384	0.0012	N	0.00303	-1.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.33141	T	0.24	.	6.2696	0.20947	0.29:0.0:0.086:0.624	.	96	Q8NGZ5	OR2G2_HUMAN	T	96	ENSP00000326349:A96T	ENSP00000326349:A96T	A	+	1	0	OR2G2	245818570	0.000000	0.05858	0.761000	0.31378	0.087000	0.18053	0.484000	0.22308	-0.476000	0.06842	-0.333000	0.08304	GCC		0.527	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1	0			1:247751947
GOLGA1	2800	broad.mit.edu	37	9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512																																						ENST00000373555.4		NA																	1	Substitution - Missense(1)	p.E509K(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1525-1527)Gag>Aag		golgin A1							236.0	223.0	227.0					9																	127651788		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651788C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1525G>A	9.37:g.127651788C>T	ENSP00000362656:p.Glu509Lys	False	False		Somatic	0					p.E509K	NM_002077.3	NP_002068	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			17	1858	-			509			Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1525G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691632	0.48097	.	.	ENSG00000136935	ENST00000373555	T	0.35789	1.29	5.22	3.38	0.38709	.	0.000000	0.47093	D	0.000241	T	0.28234	0.0697	L	0.47716	1.5	0.29653	N	0.843775	D	0.58620	0.983	B	0.39299	0.296	T	0.16012	-1.0417	10	0.31617	T	0.26	-1.372	11.536	0.50636	0.0:0.8667:0.0:0.1333	.	509	Q92805	GOGA1_HUMAN	K	509	ENSP00000362656:E509K	ENSP00000362656:E509K	E	-	1	0	GOLGA1	126691609	0.505000	0.26131	0.581000	0.28614	0.206000	0.24218	0.853000	0.27777	0.698000	0.31739	0.448000	0.29417	GAG		0.512	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077		9:127651788
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488																																						ENST00000374888.1		NA																	0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1336-1338)cGg>cAg		zinc finger, X-linked, duplicated B							63.0	61.0	62.0					X																	57619818		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619818G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1337G>A	X.37:g.57619818G>A	ENSP00000364023:p.Arg446Gln	False	False		Somatic	0					p.R446Q	NM_007157.3	NP_009088.1	WXS	Illumina HiSeq	Phase_I	P98169	ZXDB_HUMAN			1	1550	+			446			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1337G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	0	NM_007157		X:57619818
WFIKKN2	124857	broad.mit.edu	37	17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	261	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACCATGTGCGTGGCAACGTG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0					ENST00000311378.4		NA																	0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(781-783)cGt>cAt		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	97.0	102.0		782	4.4	1.0	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	WFIKKN2	NM_175575.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	261/577	48917431	1,13005	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917431G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.782G>A	17.37:g.48917431G>A	ENSP00000311184:p.Arg261His	False	False		Somatic	0				RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H	p.R261H	NM_175575.5	NP_783165.1	WXS	Illumina HiSeq	Phase_I	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1310	+			261			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.782G>A	CCDS11575.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.24	3.580087	0.65992	2.27E-4	0.0	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.69806	-0.43;-0.43	5.44	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360711	0.29126	N	0.013070	T	0.63803	0.2542	N	0.21448	0.665	0.43930	D	0.996584	D	0.54772	0.968	P	0.55871	0.786	T	0.57522	-0.7797	10	0.15952	T	0.53	.	15.6499	0.77084	0.0:0.1374:0.8626:0.0	.	261	Q8TEU8	WFKN2_HUMAN	H	168;261	ENSP00000405889:R168H;ENSP00000311184:R261H	ENSP00000311184:R261H	R	+	2	0	WFIKKN2	46272430	0.157000	0.22836	0.977000	0.42913	0.991000	0.79684	1.787000	0.38704	2.533000	0.85409	0.651000	0.88453	CGT		0.617	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	0	NM_175575		17:48917431
PAX1	5075	broad.mit.edu	37	20	21687488	21687488	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P209P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCCGGACCGTACGAGGCAA	0.642																																						ENST00000398485.2		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(697-699)ccG>ccA		paired box 1							37.0	44.0	41.0					20																	21687488		2202	4299	6501	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687488G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.699G>A	20.37:g.21687488G>A		False	False		Somatic	0				PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron	p.P233P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	WXS	Illumina HiSeq	Phase_I	P15863	PAX1_HUMAN			2	753	+			233					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.699G>A	CCDS13146.2																																																																																				0.642	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3	0			20:21687488
IGKV2D-30	28881	broad.mit.edu	37	2	89976340	89976340	+	RNA	SNP	C	C	T	rs368396735	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:89976340C>T	ENST00000474213.1	+	0	246									immunoglobulin kappa variable 2D-30																		ATCTCCAAGGCGCCTAATTTA	0.517													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		15602	0.001		0.0	False		,,,				2504	0.0					ENST00000474213.1		NA																	0					NA										C		6,3612		1,4,1804	83.0	86.0	85.0			-0.2	0.0	2		85	0,8132		0,0,4066	no	intergenic				1,4,5870	TT,TC,CC		0.0,0.1658,0.0511			89976340	6,11744	1809	4066	5875			0							g.chr2:89976340C>T	X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976340C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	246	+			NA						RNA	SNP	ENST00000474213.1	37																																																																																						0.517	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323285.1	0	NG_000833		2:89976340
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431																											GAAGTCCCAGTGGGGAACCTT	0.502													.|||	41	0.0081869	0.0053	0.0029	5008	,	,		17977	0.0099		0.0139	False		,,,				2504	0.0082					ENST00000429810.2		NA																	0					NA																																														0							g.chr16:74372765T>C																													16.37:g.74372765T>C		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1431	-			NA						RNA	SNP	ENST00000429810.2	37																																																																																						0.502	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1	0			16:74372765
SRGAP1	57522	broad.mit.edu	37	12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	47	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGCTTCTCCAGGATCTGCAA	0.433																																						ENST00000355086.3		NA																	0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(139-141)cAg>cGg		SLIT-ROBO Rho GTPase activating protein 1							106.0	111.0	109.0					12																	64377799		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64377799A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.140A>G	12.37:g.64377799A>G	ENSP00000347198:p.Gln47Arg	False	False		Somatic	0				SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R	p.Q47R	NM_020762.2	NP_065813.1	WXS	Illumina HiSeq	Phase_I	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	664	+			47			FCH.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.140A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686291	0.88639	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.42513	0.97;0.97;2.57	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.33691	U	0.004654	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	P;B;B	0.38020	0.615;0.096;0.185	P;B;B	0.50270	0.636;0.106;0.14	T	0.54111	-0.8342	9	.	.	.	.	15.199	0.73120	1.0:0.0:0.0:0.0	.	47;7;47	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	R	47;47;7	ENSP00000347198:Q47R;ENSP00000350480:Q47R;ENSP00000437948:Q7R	.	Q	+	2	0	SRGAP1	62664066	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.262000	0.95591	2.060000	0.61445	0.477000	0.44152	CAG		0.433	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0			12:64377799
OR52A4	390053	broad.mit.edu	37	11	5142557	5142557	+	RNA	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATCAAGCATCTTGGGCACAA	0.438																																						ENST00000498233.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22															57.0	55.0	55.0					11																	5142557		2201	4298	6499			0							g.chr11:5142557C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142557C>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	841	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	NA						RNA	SNP	ENST00000498233.1	37			.	.	.	.	.	.	.	.	.	.	C	13.16	2.154681	0.38021	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.18	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32133	0.0819	.	.	.	0.23056	N	0.998369	B	0.34290	0.447	B	0.38921	0.285	T	0.38714	-0.9648	6	0.51188	T	0.08	.	3.4013	0.07324	0.0:0.378:0.2029:0.4191	.	84	A6NMU1	O52A4_HUMAN	N	84	.	ENSP00000369727:K84N	K	-	3	2	OR52A4	5099133	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-3.743000	0.00378	0.647000	0.30713	0.650000	0.86243	AAG		0.438	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	0	NG_029079		11:5142557
SYT1	6857	broad.mit.edu	37	12	79679566	79679566	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000457153.2_Splice_Site|SYT1_ENST00000552744.1_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTTTCTTTCAGTGCCACCGTG	0.368																																						ENST00000261205.4		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.e5-1		synaptotagmin I							130.0	119.0	123.0					12																	79679566		2203	4300	6503	SO:0001630	splice_region_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679566G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.167-1G>A	12.37:g.79679566G>A		False	False		Somatic	0				SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site		NM_005639.2	NP_005630.1	WXS	Illumina HiSeq	Phase_I	P21579	SYT1_HUMAN			5	823	+			NA					Q6AI31	Splice_Site	SNP	ENST00000261205.4	37		CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994229	0.93167	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT1	78203697	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	.		0.368	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	0	NM_005639	Intron	12:79679566
BEND2	139105	broad.mit.edu	37	X	18192194	18192194	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:18192194C>G	ENST00000380033.4	-	12	2069	c.1937G>C	c.(1936-1938)cGa>cCa	p.R646P	BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	646										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGAAGGTTCTCGCATTCCTTC	0.383																																						ENST00000380033.4		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1936-1938)cGa>cCa		BEN domain containing 2							120.0	91.0	101.0					X																	18192194		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192194C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1937G>C	X.37:g.18192194C>G	ENSP00000369372:p.Arg646Pro	False	False		Somatic	0				BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	p.R646P	NM_153346.4	NP_699177.2	WXS	Illumina HiSeq	Phase_I	Q8NDZ0	BEND2_HUMAN			12	2069	-			646					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1937G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	3.692	-0.063396	0.07273	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.25250	1.81;1.83	3.45	-6.89	0.01660	.	4.392740	0.00531	N	0.000217	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.228	B;B	0.21151	0.033;0.033	T	0.10109	-1.0644	10	0.35671	T	0.21	3.0061	6.5327	0.22336	0.2703:0.5292:0.0:0.2004	.	555;646	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	P	646;555	ENSP00000369372:R646P;ENSP00000369369:R555P	ENSP00000369369:R555P	R	-	2	0	BEND2	18102115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.213000	0.01224	-2.640000	0.00429	-0.370000	0.07254	CGA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	0	NM_153346		X:18192194
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6		NA																	11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G		False	False		Somatic	0				SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	WXS	Illumina HiSeq	Phase_I	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	0	NM_001004351		7:99913460
TADA2A	6871	broad.mit.edu	37	17	35830625	35830625	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGCTCCGCCGGCAAGCTGACA	0.507																																						ENST00000394395.2		NA																	0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1015-1017)cgG>cgA		transcriptional adaptor 2A							94.0	92.0	93.0					17																	35830625		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830625G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1017G>A	17.37:g.35830625G>A		False	False		Somatic	0				TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	p.R339R	NM_001166105.1	NP_001159577.1	WXS	Illumina HiSeq	Phase_I	O75478	TAD2A_HUMAN			13	1190	+			339					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.1017G>A	CCDS11319.1																																																																																				0.507	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	0	NM_001488		17:35830625
GHRL	51738	broad.mit.edu	37	3	10331548	10331548	+	Silent	SNP	C	C	T	rs146899970		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRLOS_ENST00000439539.3_RNA|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000449554.2_Silent_p.S40S|GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.S28S			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	41					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTGGCTTCTTCGACTCCTTTC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16947	0.001		0.0	False		,,,				2504	0.0					ENST00000335542.8		NA																	0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(121-123)tcG>tcA		ghrelin/obestatin prepropeptide		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	119.0	127.0	124.0		120,87,84,,123	4.0	1.0	3	dbSNP_134	124	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,,	40/117,29/106,28/105,,41/118	10331548	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331548C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.123G>A	3.37:g.10331548C>T		False	False		Somatic	0				GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605014.1_RNA	p.S41S			WXS	Illumina HiSeq	Phase_I	Q9UBU3	GHRL_HUMAN			4	993	-			41					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.123G>A	CCDS33700.1																																																																																				0.572	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	0	NM_016362		3:10331548
ABCC9	10060	broad.mit.edu	37	12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261201.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000261200.4_Missense_Mutation_p.T400M|ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	400	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348																																						ENST00000261200.4		NA																	0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1198-1200)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						101.0	101.0	101.0					12																	22063212		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063212G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1199C>T	12.37:g.22063212G>A	ENSP00000261201:p.Thr400Met	False	False		Somatic	0				ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M|ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M	p.T400M	NM_020297.2	NP_064693.2	WXS	Illumina HiSeq	Phase_I	O60706	ABCC9_HUMAN			8	1198	-			400			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1199C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642321	0.87859	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.66	5.66	0.87406	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.897	D	0.93643	0.6966	10	0.87932	D	0	-17.543	19.7509	0.96268	0.0:0.0:1.0:0.0	.	400;400	O60706;O60706-2	ABCC9_HUMAN;.	M	400;63;400;400	ENSP00000261200:T400M;ENSP00000440521:T63M;ENSP00000261201:T400M;ENSP00000261202:T400M	ENSP00000261200:T400M	T	-	2	0	ABCC9	21954479	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	9.852000	0.99516	2.664000	0.90586	0.650000	0.86243	ACG		0.348	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	0	NM_005691		12:22063212
STAT1	6772	broad.mit.edu	37	2	191859900	191859900	+	Silent	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000392322.3_Silent_p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CCAACTTTTTAAGCTGCTGCC	0.458																																						ENST00000361099.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)ctT>ctA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153.0	131.0	138.0					2																	191859900		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859900A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.831T>A	2.37:g.191859900A>T		True	False		Somatic	0				STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.L277L	p.L277L	NM_007315.3	NP_009330.1	WXS	Illumina HiSeq	Phase_I	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1218	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.831T>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	0	NM_007315		2:191859900
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K			O14520	AQP7_HUMAN	aquaporin 7	175					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592																																						ENST00000537089.1		NA																	0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(247-249)Gag>Aag		aquaporin 7							50.0	46.0	48.0					9																	33386077		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33386077C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.247G>A	9.37:g.33386077C>T	ENSP00000441619:p.Glu83Lys	False	False		Somatic	0				AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K	p.E83K			WXS	Illumina HiSeq	Phase_I	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	565	-			175					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	AQP7	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG		0.592	AQP7-202	KNOWN	basic	protein_coding	protein_coding		0	NM_001170		9:33386077
USP26	83844	broad.mit.edu	37	X	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000370832.1_Missense_Mutation_p.R861W|USP26_ENST00000406273.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	861	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTAACACCCGCATATCATCG	0.438																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1		NA																	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2581-2583)Cgg>Tgg		ubiquitin specific peptidase 26							139.0	117.0	125.0					X																	132159668		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159668G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2581C>T	X.37:g.132159668G>A	ENSP00000423390:p.Arg861Trp	True	False		Somatic	0				USP26_ENST00000370832.1_Missense_Mutation_p.R861W|USP26_ENST00000406273.1_Missense_Mutation_p.R861W	p.R861W	NM_031907.1	NP_114113.1	WXS	Illumina HiSeq	Phase_I	Q9BXU7	UBP26_HUMAN			6	3050	-	Acute lymphoblastic leukemia(192;0.000127)		861					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2581C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844003	0.51164	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.33216	1.42;1.42;1.42	3.91	1.06	0.20224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.646050	0.04079	N	0.309366	T	0.28200	0.0696	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.51453	0.67	T	0.21827	-1.0234	10	0.66056	D	0.02	5.8655	6.3523	0.21383	0.0:0.3293:0.3298:0.341	.	861	Q9BXU7	UBP26_HUMAN	W	861	ENSP00000359869:R861W;ENSP00000423390:R861W;ENSP00000384360:R861W	ENSP00000359869:R861W	R	-	1	2	USP26	131987334	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	0.920000	0.28705	0.086000	0.17137	-0.324000	0.08512	CGG		0.438	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	0	NM_031907		X:132159668
IDH2	3418	broad.mit.edu	37	15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	239					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTCTGGATGGCATACTGGAA	0.562			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3		NA		Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(715-717)gCc>gTc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							177.0	167.0	170.0					15																	90630770		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630770G>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.716C>T	15.37:g.90630770G>A	ENSP00000331897:p.Ala239Val	False	False		Somatic	0	OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V	p.A239V	NM_002168.2	NP_002159.2	WXS	Illumina HiSeq	Phase_I	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		6	829	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		239					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.716C>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556943	0.65425	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.89485	-2.52;-2.52;-2.52	5.74	5.74	0.90152	Isopropylmalate dehydrogenase-like domain (2);	0.101003	0.64402	D	0.000002	D	0.96738	0.8935	H	0.98005	4.125	0.49582	D	0.9998	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.943	D	0.97950	1.0331	10	0.87932	D	0	.	17.4143	0.87495	0.0:0.0:1.0:0.0	.	239;239	Q53GL5;P48735	.;IDHP_HUMAN	V	239;109;187	ENSP00000331897:A239V;ENSP00000438457:A109V;ENSP00000446147:A187V	ENSP00000331897:A239V	A	-	2	0	IDH2	88431774	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	7.797000	0.85911	2.721000	0.93114	0.491000	0.48974	GCC		0.562	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	0			15:90630770
T	6862	broad.mit.edu	37	6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	359					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAGCCCGGGGTGACGGCGCC	0.687									Chordoma, Familial Clustering of																													ENST00000296946.2		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1075-1077)aCc>aTc		T, brachyury homolog (mouse)							14.0	18.0	17.0					6																	166572035		2197	4290	6487	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166572035G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1076C>T	6.37:g.166572035G>A	ENSP00000296946:p.Thr359Ile	True	False		Somatic	0				T_ENST00000366871.3_Missense_Mutation_p.T301I	p.T359I	NM_003181.3	NP_003172.1	WXS	Illumina HiSeq	Phase_I	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1544	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	359					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1076C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983254	0.35036	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83914	-1.78;-1.78	4.92	4.03	0.46877	.	0.368313	0.26109	N	0.026292	T	0.71736	0.3375	M	0.65975	2.015	0.48087	D	0.999585	P;B;P	0.36392	0.551;0.005;0.551	B;B;B	0.36885	0.235;0.017;0.235	T	0.71248	-0.4649	10	0.23891	T	0.37	.	12.083	0.53682	0.084:0.0:0.916:0.0	.	301;359;301	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	I	359;359;301	ENSP00000296946:T359I;ENSP00000355836:T301I	ENSP00000296946:T359I	T	-	2	0	T	166492025	1.000000	0.71417	0.002000	0.10522	0.387000	0.30353	5.408000	0.66368	2.406000	0.81754	0.655000	0.94253	ACC		0.687	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	0	NM_003181		6:166572035
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	G	A	rs372854651		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597																																						ENST00000408906.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(628-630)ccG>ccA		olfactory receptor, family 2, subfamily A, member 5		G		0,4028		0,0,2014	126.0	129.0	128.0		630	-2.7	1.0	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748124G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.630G>A	7.37:g.143748124G>A		False	False		Somatic	0					p.P210P	NM_012365.1	NP_036497.1	WXS	Illumina HiSeq	Phase_I	Q96R48	OR2A5_HUMAN			1	664	+	Melanoma(164;0.0783)		210					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.630G>A	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1	0			7:143748124
METTL15	196074	broad.mit.edu	37	11	28311787	28311787	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:28311787C>G	ENST00000407364.3	+	5	794	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	METTL15_ENST00000342303.5_Missense_Mutation_p.Q148E|METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E			A6NJ78	MET15_HUMAN	methyltransferase like 15	148							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CCAGTTCAGCCAGGCAGAAGC	0.433																																						ENST00000342303.5		NA																	0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(442-444)Cag>Gag		methyltransferase like 15							44.0	44.0	44.0					11																	28311787		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28311787C>G	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.442C>G	11.37:g.28311787C>G	ENSP00000384369:p.Gln148Glu	False	False		Somatic	0				METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000407364.3_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E	p.Q148E	NM_152636.2	NP_689849.2	WXS	Illumina HiSeq	Phase_I	A6NJ78	MET15_HUMAN			5	897	+			148					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.442C>G	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700273	0.30142	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.88	4.96	0.65561	.	0.116199	0.64402	D	0.000018	T	0.20577	0.0495	N	0.10916	0.065	0.80722	D	1	B;B;B	0.32781	0.001;0.001;0.384	B;B;B	0.38264	0.013;0.005;0.269	T	0.09357	-1.0678	9	.	.	.	.	14.6247	0.68614	0.0:0.7232:0.2768:0.0	.	148;148;148	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	E	148	ENSP00000385507:Q148E;ENSP00000342259:Q148E;ENSP00000384369:Q148E;ENSP00000307251:Q148E	.	Q	+	1	0	METTL15	28268363	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.311000	0.33562	1.484000	0.48361	0.655000	0.94253	CAG		0.433	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	0	NM_152636		11:28311787
GTF2IRD1	9569	broad.mit.edu	37	7	74005322	74005322	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:74005322G>A	ENST00000265755.3	+	24	3005	c.2612G>A	c.(2611-2613)cGc>cAc	p.R871H	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R856H	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	871					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCATGTCCGCATGGTCATC	0.612																																						ENST00000476977.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2566-2568)cGc>cAc		GTF2I repeat domain containing 1							73.0	65.0	68.0					7																	74005322		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74005322G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2612G>A	7.37:g.74005322G>A	ENSP00000265755:p.Arg871His	False	False		Somatic	0				GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H	p.R856H			WXS	Illumina HiSeq	Phase_I	Q9UHL9	GT2D1_HUMAN			24	4258	+			871					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2567G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117457	0.37339	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	2.74	0.32292	.	0.414937	0.24879	N	0.034877	T	0.18257	0.0438	N	0.03608	-0.345	0.29184	N	0.876305	B;B;B;B	0.33857	0.124;0.245;0.429;0.211	B;B;B;B	0.34242	0.028;0.087;0.178;0.076	T	0.08554	-1.0716	10	0.49607	T	0.09	-16.5833	5.9352	0.19161	0.1572:0.0:0.6884:0.1544	.	888;856;871;856	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	H	871;888;856;856	ENSP00000265755:R871H;ENSP00000397566:R888H;ENSP00000408477:R856H;ENSP00000418383:R856H	ENSP00000265755:R871H	R	+	2	0	GTF2IRD1	73643258	0.997000	0.39634	0.965000	0.40720	0.060000	0.15804	2.041000	0.41213	0.719000	0.32188	-0.987000	0.02553	CGC		0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	0	NM_016328		7:74005322
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Splice_Site	SNP	G	G	A	rs532447307		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000396134.2_Splice_Site_p.T427M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000396142.2_Splice_Site_p.T394M			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.001		0.0	False		,,,				2504	0.0					ENST00000396134.2		NA																	1	Substitution - Missense(1)	p.T394M(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1279-1281)aCg>aTg		uromodulin							32.0	33.0	33.0					16																	20357449		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357449G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1C>T	16.37:g.20357449G>A		False	False		Somatic	0				UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000570689.1_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000424589.1_Splice_Site_p.T427M	p.T427M	NM_001278614.1	NP_001265543.1	WXS	Illumina HiSeq	Phase_I	P07911	UROM_HUMAN			6	1403	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Splice_Site	SNP	ENST00000570689.1	37	c.1280C>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	0		Missense_Mutation	16:20357449
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	rs370258691		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177.0	179.0	179.0		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val	False	False		Somatic	0				ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V	p.A445V			WXS	Illumina HiSeq	Phase_I	O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	NM_014861		16:84476138
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443																																						ENST00000355937.4		NA																	0				endometrium(1)|lung(2)|skin(2)	5						c.(181-183)ctG>ctA		slowmo homolog 2 (Drosophila)							89.0	86.0	87.0					20																	57613539		1899	4125	6024	SO:0001819	synonymous_variant	51012							g.chr20:57613539C>T	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.183G>A	20.37:g.57613539C>T		False	False		Somatic	0				SLMO2_ENST00000371033.5_Silent_p.L61L	p.L61L	NM_016045.2	NP_057129.2	WXS	Illumina HiSeq	Phase_I	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	361	-	all_lung(29;0.00711)		61			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.183G>A	CCDS42893.1																																																																																				0.443	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	0	NM_016045		20:57613539
DMD	1756	broad.mit.edu	37	X	32591647	32591647	+	Splice_Site	SNP	G	G	A	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	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	604					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)				AAGTACATACGGCCAGTTTTT	0.308													G|||	3	0.000794702	0.0023	0.0	3775	,	,		12424	0.0		0.0	False		,,,				2504	0.0					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.(1810-1812)gcC>gcT		dystrophin		G	,,,,	4,3827		0,3,1,1627,570	87.0	79.0	82.0		1788,1812,1443,1800,1443	-4.1	0.0	X	dbSNP_134	82	0,6727		0,0,0,2428,1871	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	0,3,1,4055,2441	AA,AG,A,GG,G		0.0,0.1044,0.0379	,,,,	596/3678,604/3686,481/3563,600/3682,481/3563	32591647	4,10554	2201	4299	6500	SO:0001630	splice_region_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:32591647G>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.1812+1C>T	X.37:g.32591647G>A		False	False		Somatic	0				DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	p.A604A	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	WXS	Illumina HiSeq	Phase_I	P11532	DMD_HUMAN			15	2018	-		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)	604					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.1812C>T	CCDS14233.1																																																																																				0.308	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	NM_004006	Silent	X:32591647
SLC12A9	56996	broad.mit.edu	37	7	100463679	100463679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100463679C>T	ENST00000354161.3	+	14	2322	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	733					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACCTGCTGCGGCCCCGGGG	0.711																																						ENST00000354161.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2197-2199)Cgg>Tgg		solute carrier family 12, member 9							77.0	98.0	91.0					7																	100463679		2191	4276	6467	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463679C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2197C>T	7.37:g.100463679C>T	ENSP00000275730:p.Arg733Trp	False	False		Somatic	0					p.R733W	NM_020246.3	NP_064631.2	WXS	Illumina HiSeq	Phase_I	Q9BXP2	S12A9_HUMAN			14	2322	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		733					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2197C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074321	0.76415	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91686	-2.89	5.24	3.32	0.38043	.	0.069807	0.56097	D	0.000035	D	0.93321	0.7871	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.92644	0.6127	10	0.87932	D	0	.	11.8725	0.52529	0.3159:0.6841:0.0:0.0	.	733	Q9BXP2	S12A9_HUMAN	W	733;359	ENSP00000275730:R733W	ENSP00000275730:R733W	R	+	1	2	SLC12A9	100301615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.454000	0.52986	0.517000	0.28361	0.555000	0.69702	CGG		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	0	NM_020246		7:100463679
APC	324	broad.mit.edu	37	5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	APC_ENST00000508376.2_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A597T			P25054	APC_HUMAN	adenomatous polyposis coli	597	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTTGTCAGCACATTGCAC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1789-1791)Gca>Aca		adenomatous polyposis coli							198.0	163.0	175.0					5																	112170693		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170693G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1789G>A	5.37:g.112170693G>A	ENSP00000413133:p.Ala597Thr	False	False	TSP Lung(16;0.13)	Somatic	0				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A597T|APC_ENST00000508376.2_Missense_Mutation_p.A597T	p.A597T			WXS	Illumina HiSeq	Phase_I	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2169	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	597			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1789G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859311	0.97036	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.95171	-2.91;-3.63;-2.91;-2.91;-3.09	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.97492	1.0054	10	0.87932	D	0	-19.1568	20.3409	0.98764	0.0:0.0:1.0:0.0	.	599;597	Q4LE70;P25054	.;APC_HUMAN	T	597;579;597;597;597	ENSP00000413133:A597T;ENSP00000423224:A579T;ENSP00000257430:A597T;ENSP00000427089:A597T;ENSP00000423828:A597T	ENSP00000257430:A597T	A	+	1	0	APC	112198592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GCA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	0	NM_000038		5:112170693
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000429544.2_Missense_Mutation_p.P191S	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser	False	False		Somatic	0				MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S	p.P191S	NM_001276270.1	NP_001263199.1	WXS	Illumina HiSeq	Phase_I	O95243	MBD4_HUMAN			3	766	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	0	NM_003925		3:129155916
PCDHGA2	56113	broad.mit.edu	37	5	140719009	140719009	+	Silent	SNP	G	G	A	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAATGCGCATGATGCAG	0.498																																						ENST00000394576.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(469-471)gcG>gcA									82.0	80.0	81.0					5																	140719009		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719009G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.471G>A	5.37:g.140719009G>A		False	False		Somatic	0				PCDHGA1_ENST00000517417.1_Intron	p.A157A	NM_018915.2	NP_061738.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	471	+			NA					Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.471G>A	CCDS47289.1																																																																																				0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	NM_018915		5:140719009
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3		NA																	0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119.0	116.0	117.0					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His	False	False		Somatic	0					p.R73H	NM_003523.2	NP_003514.2	WXS	Illumina HiSeq	Phase_I	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	0	NM_003523		6:26184241
MIB1	57534	broad.mit.edu	37	18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTACCTGTTCTTTATGTTC	0.343																																						ENST00000261537.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(2521-2523)Tct>Cct		mindbomb E3 ubiquitin protein ligase 1							166.0	154.0	158.0					18																	19429284		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429284T>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2521T>C	18.37:g.19429284T>C	ENSP00000261537:p.Ser841Pro	False	False		Somatic	0				MIB1_ENST00000578646.1_3'UTR	p.S841P	NM_020774.2	NP_065825.1	WXS	Illumina HiSeq	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2785	+			841					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2521T>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.554016	0.65425	.	.	ENSG00000101752	ENST00000261537	T	0.79554	-1.28	5.33	5.33	0.75918	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.77103	2.36	0.80722	D	1	P	0.49961	0.93	P	0.62184	0.899	D	0.88191	0.2877	10	0.40728	T	0.16	-11.9712	15.3214	0.74124	0.0:0.0:0.0:1.0	.	841	Q86YT6	MIB1_HUMAN	P	841	ENSP00000261537:S841P	ENSP00000261537:S841P	S	+	1	0	MIB1	17683282	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.019000	0.59389	0.477000	0.44152	TCT		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	0	NM_020774		18:19429284
HSPB6	126393	broad.mit.edu	37	19	36244964	36244964	+	IGR	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:36244964C>T	ENST00000592984.1	-	0	1634				AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.P164L|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACAAGCTGCCGCCACCCACA	0.632																																						ENST00000301159.9		NA																	0				large_intestine(1)|lung(5)	6						c.(490-492)cCg>cTg		lin-37 homolog (C. elegans)							52.0	60.0	58.0					19																	36244964		2002	4168	6170	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36244964C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36244964C>T		False	False		Somatic	0				AC002398.9_ENST00000591613.2_3'UTR	p.P164L	NM_019104.2	NP_061977	WXS	Illumina HiSeq	Phase_I	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	855	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		164			Pro-rich.		O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.491C>T	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589252	0.86851	.	.	ENSG00000188223	ENST00000301159	D	0.82081	-1.57	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91683	0.7371	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92687	0.6163	10	0.87932	D	0	-26.5281	15.6642	0.77213	0.0:1.0:0.0:0.0	.	164	Q96GY3	LIN37_HUMAN	L	164	ENSP00000301159:P164L	ENSP00000301159:P164L	P	+	2	0	LIN37	40936804	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.592000	0.67543	2.670000	0.90874	0.655000	0.94253	CCG		0.632	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	0	NM_144617		19:36244964
EIF2B5	8893	broad.mit.edu	37	3	183860631	183860631	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	537					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATTCTGAGGAGCCGGACAGCC	0.483																																						ENST00000273783.3		NA																	0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1609-1611)gaG>gaA		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							34.0	39.0	38.0					3																	183860631		2202	4300	6502	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860631G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1611G>A	3.37:g.183860631G>A		False	False		Somatic	0				EIF2B5_ENST00000444495.1_Silent_p.E537E	p.E537E	NM_003907.2	NP_003898.2	WXS	Illumina HiSeq	Phase_I	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1733	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		537					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.1611G>A	CCDS3252.1																																																																																				0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	0			3:183860631
RACGAP1	29127	broad.mit.edu	37	12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000427314.2	-	4	272	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000434422.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCACCCGGCGCACAAGCTGC	0.438																																						ENST00000434422.1		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(49-51)Cgc>Tgc		Rac GTPase activating protein 1							131.0	140.0	137.0					12																	50410450		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50410450G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.49C>T	12.37:g.50410450G>A	ENSP00000404190:p.Arg17Cys	False	False		Somatic	0				RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C	p.R17C			WXS	Illumina HiSeq	Phase_I	Q9H0H5	RGAP1_HUMAN			3	350	-			17						Missense_Mutation	SNP	ENST00000427314.2	37	c.49C>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099325	0.76983	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.7	4.81	0.61882	.	0.320727	0.37715	N	0.001971	T	0.76535	0.4001	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.52957	0.714	T	0.79923	-0.1598	10	0.87932	D	0	-2.9543	14.6535	0.68814	0.0695:0.0:0.9304:0.0	.	17	Q9H0H5	RGAP1_HUMAN	C	17;17;17;17;17;17;17;17;29;17;17;17;17;17;17;17	ENSP00000404190:R17C;ENSP00000309871:R17C;ENSP00000413241:R17C;ENSP00000404808:R17C;ENSP00000449374:R17C;ENSP00000449370:R17C;ENSP00000448697:R17C;ENSP00000449170:R17C;ENSP00000449620:R29C;ENSP00000449669:R17C;ENSP00000447393:R17C;ENSP00000447177:R17C;ENSP00000449186:R17C;ENSP00000448707:R17C;ENSP00000449959:R17C;ENSP00000448136:R17C	ENSP00000309871:R17C	R	-	1	0	RACGAP1	48696717	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.287000	0.72671	1.411000	0.46957	0.650000	0.86243	CGC		0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	0	NM_013277		12:50410450
SMURF2P1	0	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000579301.1		NA																	0					NA																																														0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	391	+			NA						RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1	0			17:28935540
SFXN3	81855	broad.mit.edu	37	10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000224807.5	+	4	740	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587																																						ENST00000393459.1		NA																	1	Substitution - Missense(1)	p.R95H(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(271-273)cGc>cAc		sideroflexin 3							122.0	92.0	102.0					10																	102795364		2203	4300	6503	SO:0001583	missense	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102795364G>A	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.284G>A	10.37:g.102795364G>A	ENSP00000224807:p.Arg95His	False	False		Somatic	0				SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H	p.R91H			WXS	Illumina HiSeq	Phase_I	Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	745	+		Colorectal(252;0.234)	95					Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	c.272G>A	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093229	0.94149	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.57595	0.39;0.39	5.11	4.19	0.49359	.	0.103262	0.64402	D	0.000005	T	0.80237	0.4586	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.86037	0.1517	10	0.87932	D	0	-15.974	14.1571	0.65424	0.0737:0.0:0.9262:0.0	.	95;95;95	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	H	91;95	ENSP00000377103:R91H;ENSP00000224807:R95H	ENSP00000224807:R95H	R	+	2	0	SFXN3	102785354	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.802000	0.85969	2.652000	0.90054	0.561000	0.74099	CGC		0.587	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_030971		10:102795364
DHRS4	10901	broad.mit.edu	37	14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000397073.2_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	114					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522																																						ENST00000313250.5		NA																	0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(340-342)Gtc>Ctc		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)						297.0	345.0	329.0					14																	24429144		2203	4300	6503	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24429144G>C	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.340G>C	14.37:g.24429144G>C	ENSP00000326219:p.Val114Leu	False	False		Somatic	0				DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	p.V114L	NM_021004.2	NP_066284.2	WXS	Illumina HiSeq	Phase_I	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	543	+			114					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.340G>C	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065559	0.36470	.	.	ENSG00000157326	ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741	T;T;D;T	0.90444	0.62;1.22;-2.67;1.22	3.1	1.21	0.21127	NAD(P)-binding domain (1);	0.130045	0.51477	D	0.000095	D	0.93595	0.7955	M	0.88979	2.995	0.45452	D	0.998421	P;P;P;P	0.41569	0.514;0.59;0.663;0.755	B;P;B;P	0.54544	0.329;0.51;0.346;0.755	D	0.91433	0.5167	10	0.66056	D	0.02	.	7.0353	0.24991	0.2376:0.0:0.7624:0.0	.	114;114;114;114	F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2	.;.;.;DHRS4_HUMAN	L	114;96;114;114	ENSP00000326219:V114L;ENSP00000372209:V96L;ENSP00000380265:V114L;ENSP00000440508:V114L	ENSP00000326219:V114L	V	+	1	0	DHRS4	23498984	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	3.267000	0.51577	0.166000	0.19597	0.555000	0.69702	GTC		0.522	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3	0			14:24429144
RETSAT	54884	broad.mit.edu	37	2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	409					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567																																						ENST00000295802.4		NA																	0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1225-1227)tAt>tGt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						132.0	107.0	116.0					2																	85571747		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571747T>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1226A>G	2.37:g.85571747T>C	ENSP00000295802:p.Tyr409Cys	False	False		Somatic	0				RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C	p.Y409C	NM_017750.3	NP_060220.3	WXS	Illumina HiSeq	Phase_I	Q6NUM9	RETST_HUMAN			7	1338	-			409					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1226A>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031158|3.031158	0.54790|0.54790	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.23754	.|1.92;1.89	4.62|4.62	0.301|0.301	0.15781|0.15781	.|.	.|0.505894	.|0.23504	.|N	.|0.047471	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.60455|0.60455	1.87|1.87	0.31918|0.31918	N|N	0.613849|0.613849	.|D;D;D	.|0.62365	.|0.991;0.967;0.985	.|P;P;P	.|0.57324	.|0.818;0.818;0.571	T|T	0.43393|0.43393	-0.9394|-0.9394	5|10	.|0.52906	.|T	.|0.07	-5.281|-5.281	8.9397|8.9397	0.35722|0.35722	0.5511:0.0:0.0:0.4489|0.5511:0.0:0.0:0.4489	.|.	.|348;348;409	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	V|C	198|409;409;348	.|ENSP00000295802:Y409C;ENSP00000405040:Y348C	.|ENSP00000263854:Y409C	M|Y	-|-	1|2	0|0	RETSAT|RETSAT	85425258|85425258	0.005000|0.005000	0.15991|0.15991	0.987000|0.987000	0.45799|0.45799	0.861000|0.861000	0.49209|0.49209	0.074000|0.074000	0.14662|0.14662	0.197000|0.197000	0.20387|0.20387	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.567	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	0	NM_017750		2:85571747
MUC5AC	4586	broad.mit.edu	37	11	1159032	1159032	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:1159032G>A	ENST00000356191.2	+	15	1201	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	404					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGCTGCCTATGCCCCAGGGGC	0.657																																						ENST00000356191.2		NA																	0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1201-1203)Gcc>Acc		mucin 5AC, oligomeric mucus/gel-forming							72.0	71.0	71.0					11																	1159032		875	1990	2865	SO:0001583	missense	4586							g.chr11:1159032G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1201G>A	11.37:g.1159032G>A	ENSP00000348519:p.Ala401Thr	True	False		Somatic	0					p.A401T			WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	15	1201	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	NA					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1201G>A		.	.	.	.	.	.	.	.	.	.	g	15.58	2.876915	0.51801	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.21932	1.98;1.98	3.87	-3.38	0.04883	.	.	.	.	.	T	0.14743	0.0356	M	0.79343	2.45	.	.	.	P	0.38827	0.649	B	0.28638	0.092	T	0.21518	-1.0243	8	0.21540	T	0.41	.	1.9666	0.03397	0.1568:0.1603:0.4409:0.242	.	404	A7Y9J9	.	T	404;401	ENSP00000435591:A404T;ENSP00000348519:A401T	ENSP00000348519:A401T	A	+	1	0	MUC5AC	1149032	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.179000	0.03090	-0.589000	0.05874	0.443000	0.29094	GCC		0.657	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	XM_001130382		11:1159032
FAM58A	92002	broad.mit.edu	37	X	152861517	152861517	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:152861517C>T	ENST00000406277.2	-	4	337	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	81					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.G47S(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTGCCGGCCAAGTAA	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		15638	0.001		0.0	False		,,,				2504	0.0					ENST00000406277.2		NA																	2	Substitution - Missense(2)	p.G47S(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.(235-237)Ggc>Agc		family with sequence similarity 58, member A							162.0	139.0	147.0					X																	152861517		2203	4300	6503	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152861517C>T	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.235G>A	X.37:g.152861517C>T	ENSP00000384396:p.Gly79Ser	False	False		Somatic	0				FAM58A_ENST00000370175.4_5'UTR	p.G79S	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	WXS	Illumina HiSeq	Phase_I	Q8N1B3	FA58A_HUMAN			4	337	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		81					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.235G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545785|4.545785	0.86022|0.86022	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173;ENST00000428722|ENST00000429336	T|.	0.38077|.	1.16|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52549|0.52549	0.1741|0.1741	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	P;D|.	0.54772|.	0.917;0.968|.	B;P|.	0.50082|.	0.217;0.63|.	T|T	0.49293|0.49293	-0.8955|-0.8955	10|5	0.20519|.	T|.	0.43|.	-43.1794|-43.1794	16.168|16.168	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;81|.	Q8N1B3-2;Q8N1B3|.	.;FA58A_HUMAN|.	S|Q	47;79;47;79;79;47|2	ENSP00000384396:G79S|.	ENSP00000276345:G79S|.	G|R	-|-	1|2	0|0	FAM58A|FAM58A	152514711|152514711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	5.353000|5.353000	0.66034|0.66034	2.156000|2.156000	0.67533|0.67533	0.594000|0.594000	0.82650|0.82650	GGC|CGG		0.527	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_152274		X:152861517
BIRC6	57448	broad.mit.edu	37	2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	27					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCGCAGGCCGGAAGATGGCG	0.746																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2		NA																	0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(79-81)cGg>cAg		baculoviral IAP repeat containing 6							2.0	2.0	2.0					2																	32582309		1620	3581	5201	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32582309G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.80G>A	2.37:g.32582309G>A	ENSP00000393596:p.Arg27Gln	False	False		Somatic	0					p.R27Q	NM_016252.3	NP_057336	WXS	Illumina HiSeq	Phase_I	Q9NR09	BIRC6_HUMAN			1	214	+	Acute lymphoblastic leukemia(172;0.155)		27					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.80G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653258	0.88056	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	3.94	3.94	0.45596	.	.	.	.	.	T	0.58623	0.2135	N	0.08118	0	0.30688	N	0.75164	D	0.63880	0.993	B	0.44108	0.441	T	0.63839	-0.6546	9	0.62326	D	0.03	.	13.3635	0.60669	0.0:0.0:1.0:0.0	.	27	Q9NR09	BIRC6_HUMAN	Q	27	ENSP00000393596:R27Q	ENSP00000393596:R27Q	R	+	2	0	BIRC6	32435813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.268000	0.51585	2.198000	0.70561	0.563000	0.77884	CGG		0.746	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	0	NM_016252		2:32582309
GAS2L2	246176	broad.mit.edu	37	17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A	rs373436768		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	344					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTTCCCTGCGGGGTCTGGGG	0.627																																						ENST00000254466.6		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1030-1032)Cgc>Tgc		growth arrest-specific 2 like 2		G	CYS/ARG	0,4400		0,0,2200	23.0	28.0	26.0		1030	-4.7	0.0	17		26	1,8591		0,1,4295	no	missense	GAS2L2	NM_139285.3	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	344/881	34074090	1,12991	2200	4296	6496	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074090G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1030C>T	17.37:g.34074090G>A	ENSP00000254466:p.Arg344Cys	True	False		Somatic	0				GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	p.R344C	NM_139285.3	NP_644814.1	WXS	Illumina HiSeq	Phase_I	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1057	-		Ovarian(249;0.17)	344					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1030C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975671	0.18736	0.0	1.16E-4	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.8	-4.68	0.03309	.	1.579220	0.03355	N	0.196716	T	0.20170	0.0485	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35226	-0.9797	10	0.45353	T	0.12	2.3467	11.3093	0.49353	0.6232:0.0:0.3768:0.0	.	344	Q8NHY3	GA2L2_HUMAN	C	344	ENSP00000254466:R344C	ENSP00000254466:R344C	R	-	1	0	GAS2L2	31098203	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.053000	0.03218	-0.258000	0.10820	CGC		0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	0	NM_139285		17:34074090
NRK	203447	broad.mit.edu	37	X	105183982	105183982	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000243300.9	+	23	4219	c.3916A>G	c.(3916-3918)Aaa>Gaa	p.K1306E	NRK_ENST00000428173.2_Missense_Mutation_p.K1307E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1306	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCCTGCAAAGCTATTGA	0.388										HNSCC(51;0.14)																												ENST00000428173.2		NA																	0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3919-3921)Aaa>Gaa		Nik related kinase							80.0	74.0	76.0					X																	105183982		1865	4093	5958	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105183982A>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3916A>G	X.37:g.105183982A>G	ENSP00000434830:p.Lys1306Glu	True	False	HNSCC(51;0.14)	Somatic	0				NRK_ENST00000243300.9_Missense_Mutation_p.K1306E	p.K1307E			WXS	Illumina HiSeq	Phase_I	Q7Z2Y5	NRK_HUMAN			23	4222	+			1306			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3919A>G		.	.	.	.	.	.	.	.	.	.	A	13.34	2.206676	0.39003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04758	3.56;3.56	4.96	4.96	0.65561	Citron-like (2);	0.000000	0.49916	D	0.000135	T	0.04815	0.0130	L	0.36672	1.1	0.80722	D	1	B;P	0.42078	0.372;0.77	B;B	0.40782	0.053;0.34	T	0.38908	-0.9639	10	0.54805	T	0.06	.	5.4621	0.16622	0.8038:0.0:0.1962:0.0	.	974;1306	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	1306;1307	ENSP00000434830:K1306E;ENSP00000438378:K1307E	ENSP00000434830:K1306E	K	+	1	0	NRK	105070638	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.190000	0.50973	1.943000	0.56356	0.441000	0.28932	AAA		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	NM_198465		X:105183982
IGF2BP3	10643	broad.mit.edu	37	7	23458413	23458413	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	89	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTAAATGAGGCGGGATATTTC	0.313																																						ENST00000258729.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(265-267)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 3							38.0	37.0	37.0					7																	23458413		2199	4293	6492	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23458413C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.267G>A	7.37:g.23458413C>T		True	False		Somatic	0				IGF2BP3_ENST00000491719.1_5'UTR	p.P89P	NM_006547.2	NP_006538.2	WXS	Illumina HiSeq	Phase_I	O00425	IF2B3_HUMAN			3	623	-			89			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.267G>A	CCDS5382.1																																																																																				0.313	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	0	NM_006547		7:23458413
FAT3	120114	broad.mit.edu	37	11	92538476	92538476	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3018	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGAGCGTCAGTGATG	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9052-9054)agC>agT		FAT atypical cadherin 3							69.0	69.0	69.0					11																	92538476		1959	4168	6127	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538476C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9054C>T	11.37:g.92538476C>T		False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S	p.S3018S			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			10	9071	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3018			Cadherin 27.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9054C>T																																																																																					0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92538476
PRB3	5544	broad.mit.edu	37	12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.G190E			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000279573.7		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25						c.(631-633)gGa>gAa		proline-rich protein BstNI subfamily 3							74.0	94.0	88.0					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu	False	False		Somatic	0				PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron	p.G211E			WXS	Illumina HiSeq	Phase_I	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	767	-			NA		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.632G>A		.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	0	NM_006249		12:11420551
KCNB2	9312	broad.mit.edu	37	8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCAGGAAACGGACGAATTT	0.473																																						ENST00000523207.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(661-663)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							196.0	177.0	184.0					8																	73848252		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848252C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.662C>T	8.37:g.73848252C>T	ENSP00000430846:p.Thr221Met	True	False		Somatic	0					p.T221M	NM_004770.2	NP_004761.2	WXS	Illumina HiSeq	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1250	+	Breast(64;0.137)		221					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.662C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037564	0.07497	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-10.1	0.00402	.	1.616920	0.03742	N	0.255128	D	0.90027	0.6886	N	0.11756	0.17	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.81671	-0.0827	10	0.44086	T	0.13	.	7.1553	0.25635	0.2329:0.3187:0.0:0.4484	.	221	Q92953	KCNB2_HUMAN	M	221	ENSP00000430846:T221M	ENSP00000430846:T221M	T	+	2	0	KCNB2	74010806	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.989000	0.03736	-1.915000	0.01077	-0.274000	0.10170	ACG		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	NM_004770		8:73848252
CDH17	1015	broad.mit.edu	37	8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000450165.2_Missense_Mutation_p.E370K|CDH17_ENST00000441892.2_Missense_Mutation_p.E156K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGTATTTTCTTCATCCCTG	0.418																																						ENST00000027335.3		NA																	0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1108-1110)Gaa>Aaa		cadherin 17, LI cadherin (liver-intestine)							89.0	89.0	89.0					8																	95178163		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95178163C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1108G>A	8.37:g.95178163C>T	ENSP00000027335:p.Glu370Lys	True	False		Somatic	0				CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	p.E370K	NM_004063.3	NP_004054.3	WXS	Illumina HiSeq	Phase_I	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1232	-	Breast(36;4.65e-06)		370			Cadherin 4.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1108G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896470	0.17686	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.59502	0.26;4.6;0.26	5.89	0.741	0.18336	Cadherin (4);Cadherin-like (1);	0.629868	0.14169	N	0.336864	T	0.44138	0.1279	L	0.56124	1.755	0.39255	D	0.964112	B;B	0.28026	0.198;0.019	B;B	0.24269	0.05;0.052	T	0.22556	-1.0213	10	0.13470	T	0.59	-9.1691	7.0442	0.25037	0.0:0.5545:0.2333:0.2122	.	156;370	E7EN24;Q12864	.;CAD17_HUMAN	K	370;156;370	ENSP00000027335:E370K;ENSP00000392811:E156K;ENSP00000401468:E370K	ENSP00000027335:E370K	E	-	1	0	CDH17	95247339	0.655000	0.27376	0.866000	0.34008	0.051000	0.14879	0.052000	0.14163	0.391000	0.25143	0.561000	0.74099	GAA		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	0	NM_004063		8:95178163
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A	rs551032620		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.0	False		,,,				2504	0.001					ENST00000262259.2		NA																	0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1951-1953)tcG>tcA		zinc finger protein 175							83.0	77.0	79.0					19																	52091537		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091537G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1953G>A	19.37:g.52091537G>A		False	False		Somatic	0				ZNF175_ENST00000436511.2_Intron	p.S651S	NM_007147.2	NP_009078.1	WXS	Illumina HiSeq	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2311	+		all_neural(266;0.0299)	651					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1953G>A	CCDS12837.1																																																																																				0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	0	NM_007147		19:52091537
FBXO47	494188	broad.mit.edu	37	17	37099973	37099973	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	270										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTATCATTTCCTGCCAAACCA	0.388																																						ENST00000378079.2		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)caG>caA		F-box protein 47							118.0	113.0	115.0					17																	37099973		2203	4300	6503	SO:0001819	synonymous_variant	494188							g.chr17:37099973C>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.810G>A	17.37:g.37099973C>T		False	False		Somatic	0					p.Q270Q	NM_001008777.2	NP_001008777.2	WXS	Illumina HiSeq	Phase_I	Q5MNV8	FBX47_HUMAN			8	1009	-			270					B2RTZ4	Silent	SNP	ENST00000378079.2	37	c.810G>A	CCDS32639.1																																																																																				0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	0	NM_001008777		17:37099973
GABRB3	2562	broad.mit.edu	37	15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000311550.5	-	4	494	c.383A>T	c.(382-384)aAg>aTg	p.K128M	GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000541819.2_Missense_Mutation_p.K184M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	128					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACAAATGACTTTTTGTCATT	0.502																																						ENST00000541819.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(550-552)aAg>aTg		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						142.0	127.0	132.0					15																	26866539		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866539T>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.383A>T	15.37:g.26866539T>A	ENSP00000308725:p.Lys128Met	True	False		Somatic	0				GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M	p.K184M			WXS	Illumina HiSeq	Phase_I	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	653	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	128					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.551A>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063482	0.93898	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.85542	2.76	0.80722	D	1	P;D;D	0.71674	0.717;0.998;0.998	P;D;D	0.70016	0.454;0.917;0.967	D	0.90410	0.4409	10	0.72032	D	0.01	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	184;128;128	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	128;184;128;57;43;43	ENSP00000308725:K128M;ENSP00000442408:K184M;ENSP00000299267:K128M;ENSP00000383049:K57M;ENSP00000439169:K43M;ENSP00000452272:K43M	ENSP00000299267:K128M	K	-	2	0	GABRB3	24417632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.880000	0.87243	2.218000	0.71995	0.378000	0.23410	AAG		0.502	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	0			15:26866539
HMGCS2	3158	broad.mit.edu	37	1	120307007	120307007	+	Missense_Mutation	SNP	C	C	T	rs147906427		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:120307007C>T	ENST00000369406.3	-	2	396	c.347G>A	c.(346-348)cGc>cAc	p.R116H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	116					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAGCTGTATGCGCTCCATCAG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21152	0.0		0.0	False		,,,				2504	0.0					ENST00000369406.3		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(346-348)cGc>cAc		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)		C	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	122.0	112.0	115.0		347,347	4.2	1.0	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HMGCS2	NM_001166107.1,NM_005518.3	29,29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	116/467,116/509	120307007	4,13002	2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120307007C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.347G>A	1.37:g.120307007C>T	ENSP00000358414:p.Arg116His	False	False		Somatic	0				HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H|HMGCS2_ENST00000476640.1_5'UTR	p.R116H	NM_005518.3	NP_005509.1	WXS	Illumina HiSeq	Phase_I	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	396	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	116					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.347G>A	CCDS905.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.2	4.388299	0.82902	6.81E-4	1.16E-4	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.90004	-2.6;-2.52	5.13	4.22	0.49857	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.93262	0.7853	M	0.87097	2.86	0.54753	D	0.999981	D;D	0.89917	1.0;0.999	D;D	0.70935	0.96;0.971	D	0.94096	0.7357	10	0.66056	D	0.02	-0.313	12.9589	0.58447	0.0:0.9199:0.0:0.0801	.	116;116	B7Z8R3;P54868	.;HMCS2_HUMAN	H	116	ENSP00000358414:R116H;ENSP00000439495:R116H	ENSP00000358414:R116H	R	-	2	0	HMGCS2	120108530	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.990000	0.49401	1.297000	0.44761	0.650000	0.86243	CGC		0.547	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	0	NM_005518		1:120307007
SLC6A7	6534	broad.mit.edu	37	5	149581925	149581925	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:149581925G>T	ENST00000230671.2	+	7	1245	c.874G>T	c.(874-876)Gct>Tct	p.A292S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	292					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GATTGAAGCTGCTCTTCAGAT	0.537																																						ENST00000230671.2		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(874-876)Gct>Tct		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						99.0	105.0	103.0					5																	149581925		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581925G>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.874G>T	5.37:g.149581925G>T	ENSP00000230671:p.Ala292Ser	False	False		Somatic	0				SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	p.A292S	NM_014228.3	NP_055043.2	WXS	Illumina HiSeq	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1245	+		all_hematologic(541;0.224)	292					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.874G>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472933	0.84640	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76186	-1.0;-1.0	4.87	4.87	0.63330	.	0.048502	0.85682	D	0.000000	D	0.86197	0.5875	M	0.87617	2.895	0.58432	D	0.999999	P	0.48230	0.907	P	0.56514	0.8	D	0.88768	0.3262	10	0.72032	D	0.01	.	18.183	0.89785	0.0:0.0:1.0:0.0	.	292	Q99884	SC6A7_HUMAN	S	292	ENSP00000230671:A292S;ENSP00000428200:A292S	ENSP00000230671:A292S	A	+	1	0	SLC6A7	149562118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.856000	0.86956	2.505000	0.84491	0.561000	0.74099	GCT		0.537	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	0	NM_014228		5:149581925
SPOCK3	50859	broad.mit.edu	37	4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A	rs560446612		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	214					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AACCAGTCCCGCAATCTGTTT	0.393																																						ENST00000357154.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(640-642)Cgg>Tgg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							105.0	90.0	95.0					4																	167713399		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167713399G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.640C>T	4.37:g.167713399G>A	ENSP00000349677:p.Arg214Trp	True	False		Somatic	0				SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W	p.R214W	NM_016950.2	NP_058646.2	WXS	Illumina HiSeq	Phase_I	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	8	777	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	214					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.640C>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668665	0.67814	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.88586	1.42;1.43;1.43;1.42;1.42;1.42;1.35;0.83;1.43;1.23;0.83;1.12;2.14;-2.4	5.33	3.57	0.40892	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.124274	0.51477	N	0.000082	D	0.93501	0.7926	M	0.82193	2.58	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.991;0.996;0.995;0.998;0.996;0.997;0.998	D	0.92483	0.5994	10	0.72032	D	0.01	-2.4622	8.3992	0.32574	0.0729:0.0:0.5389:0.3881	.	116;118;163;223;214;211;214	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	W	214;211;211;214;214;214;94;116;211;163;116;118;211;93	ENSP00000349677:R214W;ENSP00000350153:R211W;ENSP00000425570:R211W;ENSP00000420920:R214W;ENSP00000423421:R214W;ENSP00000423606:R214W;ENSP00000444789:R94W;ENSP00000426318:R116W;ENSP00000425502:R211W;ENSP00000411344:R163W;ENSP00000445430:R116W;ENSP00000438142:R118W;ENSP00000426177:R211W;ENSP00000423176:R93W	ENSP00000349677:R214W	R	-	1	2	SPOCK3	167949974	0.995000	0.38212	0.833000	0.33012	0.952000	0.60782	1.388000	0.34442	0.714000	0.32081	0.563000	0.77884	CGG		0.393	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1	0			4:167713399
FRY	10129	broad.mit.edu	37	13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1097						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTAGTGCAATGGTGGCCAA	0.413																																						ENST00000380250.3		NA																	0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3289-3291)Atg>Gtg		furry homolog (Drosophila)							80.0	77.0	78.0					13																	32759255		1928	4121	6049	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759255A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3289A>G	13.37:g.32759255A>G	ENSP00000369600:p.Met1097Val	False	False		Somatic	0					p.M1097V	NM_023037.2	NP_075463.2	WXS	Illumina HiSeq	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3785	+		Lung SC(185;0.0271)	1097					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3289A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755504	0.49362	.	.	ENSG00000073910	ENST00000380250	T	0.22134	1.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.36672	1.1	0.80722	D	1	B	0.29716	0.255	B	0.26969	0.075	T	0.04242	-1.0966	10	0.24483	T	0.36	.	15.6626	0.77199	1.0:0.0:0.0:0.0	.	1097	Q5TBA9	FRY_HUMAN	V	1097	ENSP00000369600:M1097V	ENSP00000369600:M1097V	M	+	1	0	FRY	31657255	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.191000	0.77763	2.161000	0.67846	0.528000	0.53228	ATG		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	NM_023037		13:32759255
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458																																						ENST00000326441.9		NA																	2	Substitution - Missense(2)	p.R598H(2)	ovary(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1792-1794)cGt>cAt		paternally expressed 3							106.0	83.0	91.0					19																	57328017		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328017C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His	True	False		Somatic	0				ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H	p.R598H	NM_006210.2	NP_006201.1	WXS	Illumina HiSeq	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2156	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	598					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1793G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0			19:57328017
LRRC27	80313	broad.mit.edu	37	10	134155718	134155718	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000368614.3	+	4	448	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000392638.2_Splice_Site_p.H115Y|LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000356571.4_Intron	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAAAGGCATTTGAAAAC	0.264																																						ENST00000392638.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(343-345)Cat>Tat		leucine rich repeat containing 27							23.0	23.0	23.0					10																	134155718		2171	4266	6437	SO:0001630	splice_region_variant	80313							g.chr10:134155718C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.342-1C>T	10.37:g.134155718C>T		False	False		Somatic	0				LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000368614.3_Splice_Site_p.H115Y|LRRC27_ENST00000356571.4_Intron	p.H115Y			WXS	Illumina HiSeq	Phase_I	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	4	538	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	115					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Splice_Site	SNP	ENST00000368614.3	37	c.343C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848731	0.32699	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.76	2.75	0.32379	.	0.153086	0.30999	N	0.008452	T	0.41050	0.1142	L	0.39326	1.205	0.80722	D	1	B;B;B;B	0.32350	0.113;0.166;0.263;0.366	B;B;B;B	0.27796	0.031;0.063;0.052;0.083	T	0.32025	-0.9922	10	0.44086	T	0.13	-13.2043	5.8781	0.18840	0.0:0.7451:0.0:0.2549	.	115;53;115;115	Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;LRC27_HUMAN;.	Y	115;115;115;115;115;53;53	ENSP00000357604:H115Y;ENSP00000376413:H115Y;ENSP00000342641:H115Y;ENSP00000357603:H115Y;ENSP00000357602:H115Y;ENSP00000357601:H53Y;ENSP00000357599:H53Y	ENSP00000342641:H115Y	H	+	1	0	LRRC27	134005708	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.824000	0.27379	1.177000	0.42855	0.655000	0.94253	CAT		0.264	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	XM_290462	Missense_Mutation	10:134155718
