#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
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
TYRO3	7301	broad.mit.edu	37	15	41863886	41863887	+	Splice_Site	INS	-	-	GGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:41863886_41863887insGGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	ENST00000263798.3	+	14	1977		c.e14+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACTTGTTGGTGAGCCCATTT	0.475																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e14+1		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41863886_41863887insGGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1753+1->GGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	15.37:g.41863886_41863887insGGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1977	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.475	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41863886
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
SMYD3	64754	broad.mit.edu	37	1	246078893	246078893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:246078893delT	ENST00000388985.4	-	8	751	c.752delA	c.(751-753)aagfs	p.K251fs	SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000490107.1_Frame_Shift_Del_p.K192fs|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	251					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCTCAGCTGCTTCCGGCGCTC	0.527																																						ENST00000490107.1		NA																	0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(574-576)aagfs		SET and MYND domain containing 3							123.0	100.0	108.0					1																	246078893		2203	4300	6503	SO:0001589	frameshift_variant	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246078893delT	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.752delA	1.37:g.246078893delT	ENSP00000373637:p.Lys251fs	False	False		Somatic	2				SMYD3_ENST00000388985.4_Frame_Shift_Del_p.K251fs|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs	p.K192fs	NM_001167740.1	NP_001161212.1	WXS	Illumina HiSeq	Phase_I	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	8	791	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	251			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Frame_Shift_Del	DEL	ENST00000388985.4	37	c.575delA	CCDS53486.1																																																																																				0.527	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_022743		1:246078893
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	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
EPDR1	54749	broad.mit.edu	37	7	37960346	37960365	+	De_novo_Start_OutOfFrame	DEL	CCTGGTCCCGGCTACCGGGA	CCTGGTCCCGGCTACCGGGA	-	rs532446763		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	CCTGGTCCCGGCTACCGGGA	CCTGGTCCCGGCTACCGGGA	-	-	CCTGGTCCCGGCTACCGGGA	CCTGGTCCCGGCTACCGGGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37960346_37960365delCCTGGTCCCGGCTACCGGGA	ENST00000199448.4	+	0	184_203				EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.LVPATGT56fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTCCCCGGGCCCTGGTCCCGGCTACCGGGACTCGCGCGTC	0.659																																						ENST00000199448.4		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22								ependymin related 1																																						54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960346_37960365delCCTGGTCCCGGCTACCGGGA	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-177CCTGGTCCCGGCTACCGGGA>-	7.37:g.37960346_37960365delCCTGGTCCCGGCTACCGGGA		False	False		Somatic	1				EPDR1_ENST00000559325.1_Frame_Shift_Del_p.LVPATGT56fs|EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000476620.1_Intron		NM_017549.4	NP_060019.2	WXS	Illumina HiSeq	Phase_I	Q9UM22	EPDR1_HUMAN			0	184_203	+			NA					A8K4C0|C9JYS3|Q06BL0|Q99M77	Translation_Start_Site	DEL	ENST00000199448.4	37		CCDS5454.2																																																																																				0.659	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	0	NM_017549		7:37960346
DNAJA1	3301	broad.mit.edu	37	9	33026981	33026982	+	In_Frame_Ins	INS	-	-	CTTCGT	rs374295982		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:33026981_33026982insCTTCGT	ENST00000330899.4	+	3	486_487	c.303_304insCTTCGT	c.(304-306)agg>CTTCGTagg	p.101_102insLR	DNAJA1_ENST00000544625.1_Intron|APTX_ENST00000473270.1_5'Flank|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	101					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGCAGAGAGAAAGGAGAGGTAA	0.436																																						ENST00000330899.4		NA																	0				large_intestine(2)|ovary(1)|skin(3)	6						c.(304-306)agg>CTTCGTagg		DnaJ (Hsp40) homolog, subfamily A, member 1																																				SO:0001652	inframe_insertion	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33026981_33026982insCTTCGT	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	Exception_encountered	9.37:g.33026981_33026982insCTTCGT	ENSP00000369127:p.Glu101_Arg102insLeuArg	True	False		Somatic	0				DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Intron	p.101_102insLR	NM_001539.2	NP_001530.1	WXS	Illumina HiSeq	Phase_I	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	3	486_487	+			101					Q5T7Q0|Q86TL9	In_Frame_Ins	INS	ENST00000330899.4	37	c.303_304insCTTCGT	CCDS6533.1																																																																																				0.436	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1	0			9:33026981
NFKB1	4790	broad.mit.edu	37	4	103517377	103517377	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:103517377A>G	ENST00000505458.1	+	14	1657	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	NFKB1_ENST00000226574.4_Silent_p.K461K|NFKB1_ENST00000394820.4_Silent_p.K460K|NFKB1_ENST00000600343.1_Silent_p.K280K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	460	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTTTGGGAAAGTTATTGAAA	0.433																																						ENST00000226574.4		NA																	0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1381-1383)aaA>aaG		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						73.0	75.0	75.0					4																	103517377		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103517377A>G	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1380A>G	4.37:g.103517377A>G		True	False		Somatic	0				NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000505458.1_Silent_p.K460K|NFKB1_ENST00000394820.4_Silent_p.K460K	p.K461K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	WXS	Illumina HiSeq	Phase_I	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	1850	+		Hepatocellular(203;0.217)	460			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.1383A>G	CCDS54783.1																																																																																				0.433	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1	0			4:103517377
ZNF112	7771	broad.mit.edu	37	19	44833545	44833545	+	Silent	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:44833545A>C	ENST00000337401.4	-	5	871	c.783T>G	c.(781-783)acT>acG	p.T261T	ZNF112_ENST00000354340.4_Silent_p.T255T|ZNF112_ENST00000536500.1_Silent_p.T278T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	261				T -> S (in Ref. 1; AAF12816). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTATACCCAGTACATGGAT	0.433																																						ENST00000354340.4		NA																	0					NA						c.(763-765)acT>acG		zinc finger protein 112							106.0	105.0	105.0					19																	44833545		2203	4300	6503	SO:0001819	synonymous_variant	7665							g.chr19:44833545A>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.783T>G	19.37:g.44833545A>C		True	False		Somatic	0				ZNF112_ENST00000337401.4_Silent_p.T261T|ZNF112_ENST00000536500.1_Silent_p.T278T	p.T255T	NM_013380.3	NP_037512.3	WXS	Illumina HiSeq	Phase_I					4	816	-			NA					A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.765T>G	CCDS54276.1																																																																																				0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	0	NM_013380		19:44833545
DENND4C	55667	broad.mit.edu	37	9	19305370	19305370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:19305370G>A	ENST00000380432.2	+	6	657	c.624G>A	c.(622-624)tgG>tgA	p.W208*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	208	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCAGTGGCAATGCCCAT	0.328																																						ENST00000380432.2		NA																	0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(622-624)tgG>tgA		DENN/MADD domain containing 4C							167.0	163.0	164.0					9																	19305370		2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19305370G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.624G>A	9.37:g.19305370G>A	ENSP00000369797:p.Trp208*	False	False		Somatic	0				DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*	p.W208*			WXS	Illumina HiSeq	Phase_I	Q5VZ89	DEN4C_HUMAN			6	657	+			208			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.624G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.966709	0.97156	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5753	17.8373	0.88701	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000369802:W208X	W	+	3	0	DENND4C	19295370	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	TGG		0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		0	NM_017925		9:19305370
MUC3A	4584	broad.mit.edu	37	7	100607857	100607857	+	Silent	SNP	C	C	T	rs375190082	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:100607857C>T	ENST00000319509.7	+	5	2004	c.2004C>T	c.(2002-2004)aaC>aaT	p.N668N	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2333	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCTCCAGAACGCCAGCCAGG	0.657													C|||	3	0.000599042	0.0023	0.0	5008	,	,		30221	0.0		0.0	False		,,,				2504	0.0					ENST00000319509.7		NA																	0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2002-2004)aaC>aaT		mucin 3A, cell surface associated		C		6,1746		0,6,870	57.0	53.0	54.0		3834	-3.2	0.1	7		54	0,3982		0,0,1991	no	coding-synonymous	MUC3A	XM_001725354.4		0,6,2861	TT,TC,CC		0.0,0.3425,0.1046		1278/1487	100607857	6,5728	876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100607857C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2004C>T	7.37:g.100607857C>T		True	False		Somatic	0				RP11-395B7.2_ENST00000420080.1_RNA	p.N668N			WXS	Illumina HiSeq	Phase_I					5	2004	+			NA					O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.2004C>T																																																																																					0.657	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	0	XM_001725354		7:100607857
THSD7B	80731	broad.mit.edu	37	2	138163324	138163324	+	Missense_Mutation	SNP	C	C	T	rs200743398	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:138163324C>T	ENST00000409968.1	+	13	2820	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	881	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCAAGTTTACGCCCTGCTCC	0.502													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17720	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1		NA																	0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2641-2643)aCg>aTg		thrombospondin, type I, domain containing 7B		C	MET/THR	0,4074		0,0,2037	71.0	74.0	73.0		2549	5.6	1.0	2		73	3,8349		0,3,4173	yes	missense	THSD7B	NM_001080427.1	81	0,3,6210	TT,TC,CC		0.0359,0.0,0.0241	probably-damaging	850/1578	138163324	3,12423	2037	4176	6213	SO:0001583	missense	80731							g.chr2:138163324C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2642C>T	2.37:g.138163324C>T	ENSP00000387145:p.Thr881Met	False	False		Somatic	0				THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M	p.T881M			WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2820	+			NA						Missense_Mutation	SNP	ENST00000409968.1	37	c.2642C>T		.	.	.	.	.	.	.	.	.	.	C	17.45	3.393937	0.62066	0.0	3.59E-4	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.59	5.59	0.84812	.	0.105674	0.64402	D	0.000003	T	0.77003	0.4067	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.77710	-0.2486	10	0.66056	D	0.02	.	19.5832	0.95478	0.0:1.0:0.0:0.0	.	881;850	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	881;881;850	ENSP00000387145:T881M;ENSP00000272643:T881M;ENSP00000413841:T850M	ENSP00000272643:T881M	T	+	2	0	THSD7B	137879794	0.999000	0.42202	0.966000	0.40874	0.381000	0.30169	4.450000	0.60041	2.633000	0.89246	0.591000	0.81541	ACG		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	XM_046570.9		2:138163324
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		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"""		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(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.(640-642)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							127.0	114.0	119.0					17																	7578208		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.chr17:7578208T>C	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	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_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	p.H214R	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)	6	773	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578208
ZZEF1	23140	broad.mit.edu	37	17	3917724	3917724	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:3917724G>A	ENST00000381638.2	-	50	8355	c.8231C>T	c.(8230-8232)gCc>gTc	p.A2744V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2744							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGGACATGGCTAACTCGTC	0.483																																						ENST00000381638.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8230-8232)gCc>gTc		zinc finger, ZZ-type with EF-hand domain 1							156.0	133.0	141.0					17																	3917724		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917724G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8231C>T	17.37:g.3917724G>A	ENSP00000371051:p.Ala2744Val	False	False		Somatic	0					p.A2744V	NM_015113.3	NP_055928.3	WXS	Illumina HiSeq	Phase_I	O43149	ZZEF1_HUMAN			50	8355	-			2744					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8231C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425470	0.43020	.	.	ENSG00000074755	ENST00000381638	T	0.19938	2.11	5.17	5.17	0.71159	.	0.331247	0.33309	N	0.005051	T	0.09512	0.0234	N	0.08118	0	0.36216	D	0.851679	B	0.15473	0.013	B	0.14023	0.01	T	0.23297	-1.0192	10	0.26408	T	0.33	-9.8985	6.1894	0.20516	0.2147:0.0:0.7853:0.0	.	2744	O43149	ZZEF1_HUMAN	V	2744	ENSP00000371051:A2744V	ENSP00000371051:A2744V	A	-	2	0	ZZEF1	3864473	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	5.724000	0.68500	2.703000	0.92315	0.655000	0.94253	GCC		0.483	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	NM_015113		17:3917724
KRTAP1-5	83895	broad.mit.edu	37	17	39183129	39183129	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637																																						ENST00000361883.5		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(277-279)acT>acC		keratin associated protein 1-5							24.0	28.0	26.0					17																	39183129		2076	4218	6294	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183129A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G		False	False		Somatic	0					p.T93T	NM_031957.1	NP_114163.1	WXS	Illumina HiSeq	Phase_I	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	325	-		Breast(137;0.00043)	93			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.279T>C	CCDS42321.1																																																																																				0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1	0			17:39183129
MLLT4	4301	broad.mit.edu	37	6	168315909	168315909	+	Silent	SNP	C	C	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:168315909C>A	ENST00000447894.2	+	18	2340	c.2340C>A	c.(2338-2340)gcC>gcA	p.A780A	MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000366806.2_Silent_p.A780A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000400822.3_Silent_p.A779A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	780	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGTCAATGCCGCCCTGACCA	0.537			T	MLL	AL																																	ENST00000366806.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2338-2340)gcC>gcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							140.0	109.0	120.0					6																	168315909		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315909C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2340C>A	6.37:g.168315909C>A		False	False		Somatic	0				MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000447894.2_Silent_p.A780A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000400822.3_Silent_p.A779A	p.A780A			WXS	Illumina HiSeq	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2482	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	780			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2340C>A																																																																																					0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	NM_005936		6:168315909
KIF5C	3800	broad.mit.edu	37	2	149854968	149854968	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:149854968T>A	ENST00000435030.1	+	19	2523	c.2155T>A	c.(2155-2157)Tcc>Acc	p.S719T	KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T			O60282	KIF5C_HUMAN	kinesin family member 5C	719					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGCAGCTGTCCAGACTCCG	0.572																																						ENST00000435030.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2155-2157)Tcc>Acc		kinesin family member 5C							22.0	26.0	25.0					2																	149854968		2073	4224	6297	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149854968T>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2155T>A	2.37:g.149854968T>A	ENSP00000393379:p.Ser719Thr	False	False		Somatic	0				KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T	p.S719T			WXS	Illumina HiSeq	Phase_I	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	19	2523	+			719					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2155T>A		.	.	.	.	.	.	.	.	.	.	T	25.9	4.685940	0.88639	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.79845	-1.31;-1.31;-1.31	5.78	5.78	0.91487	.	0.126390	0.56097	D	0.000025	T	0.76147	0.3947	.	.	.	0.44918	D	0.997937	P	0.37233	0.588	B	0.38264	0.269	T	0.74478	-0.3652	8	.	.	.	.	16.1254	0.81392	0.0:0.0:0.0:1.0	.	719	O60282	KIF5C_HUMAN	T	719;624;622;487	ENSP00000393379:S719T;ENSP00000410115:S624T;ENSP00000380560:S487T	.	S	+	1	0	KIF5C	149563214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.204000	0.65180	2.195000	0.70347	0.528000	0.53228	TCC		0.572	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	0	NM_004522		2:149854968
RYR2	6262	broad.mit.edu	37	1	237794804	237794804	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:237794804A>G	ENST00000366574.2	+	42	6835	c.6518A>G	c.(6517-6519)gAg>gGg	p.E2173G	RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTGTGATGGAGGTCATGGTG	0.433																																						ENST00000366574.2		NA																	0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6517-6519)gAg>gGg		ryanodine receptor 2 (cardiac)							110.0	116.0	114.0					1																	237794804		2038	4227	6265	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794804A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6518A>G	1.37:g.237794804A>G	ENSP00000355533:p.Glu2173Gly	False	False		Somatic	0				RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	p.E2173G	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6835	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2173			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6518A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952183	0.92660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89485	-2.52;-2.52;-2.52	5.21	5.21	0.72293	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000005	D	0.92625	0.7657	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93114	0.6519	10	0.59425	D	0.04	-17.9264	15.3633	0.74499	1.0:0.0:0.0:0.0	.	2173	Q92736	RYR2_HUMAN	G	2173;2171;2157	ENSP00000355533:E2173G;ENSP00000353174:E2171G;ENSP00000443798:E2157G	ENSP00000353174:E2171G	E	+	2	0	RYR2	235861427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.528000	0.53228	GAG		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237794804
GTF3C1	2975	broad.mit.edu	37	16	27517278	27517278	+	Missense_Mutation	SNP	G	G	A	rs140459536		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:27517278G>A	ENST00000356183.4	-	10	1727	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	571					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTGCTGTCCGCACAGTGGGA	0.567																																						ENST00000356183.4		NA																	0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1711-1713)gCg>gTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa		G	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	139.0	115.0	123.0		1712	2.8	0.0	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTF3C1	NM_001520.3	64	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	571/2110	27517278	2,12992	2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27517278G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1712C>T	16.37:g.27517278G>A	ENSP00000348510:p.Ala571Val	False	False		Somatic	0				GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	p.A571V	NM_001520.3	NP_001511.2	WXS	Illumina HiSeq	Phase_I	Q12789	TF3C1_HUMAN			10	1727	-			571					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1712C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	3.660	-0.069722	0.07228	2.28E-4	1.16E-4	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22539	1.95	5.39	2.83	0.33086	.	1.419090	0.03886	N	0.277842	T	0.09379	0.0231	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21075	-1.0256	10	0.28530	T	0.3	-4.6393	5.1223	0.14867	0.7147:0.0:0.2853:0.0	.	571;571	Q12789;Q12789-3	TF3C1_HUMAN;.	V	571;569	ENSP00000348510:A571V	ENSP00000348510:A571V	A	-	2	0	GTF3C1	27424779	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.574000	0.23714	0.984000	0.38629	-0.302000	0.09304	GCG		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	NM_001520		16:27517278
TMED9	54732	broad.mit.edu	37	5	177022351	177022351	+	Silent	SNP	C	C	T	rs370667269		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592																																						ENST00000332598.6		NA																	0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(640-642)ctC>ctT		transmembrane emp24 protein transport domain containing 9							80.0	76.0	77.0					5																	177022351		2203	4300	6503	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177022351C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.642C>T	5.37:g.177022351C>T		False	False		Somatic	0					p.L214L	NM_017510.4	NP_059980.2	WXS	Illumina HiSeq	Phase_I	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	699	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	214					Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.642C>T	CCDS4428.1																																																																																				0.592	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	0	NM_017510		5:177022351
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000608209.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89.0	81.0	84.0					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr	False	False		Somatic	0				SLC5A3_ENST00000381151.3_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	p.A402T	NM_006933.4	NP_008864.3	WXS	Illumina HiSeq	Phase_I	P53794	SC5A3_HUMAN			2	1716	+			NA					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	0			21:35468701
ATP8B3	148229	broad.mit.edu	37	19	1785511	1785511	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:1785511G>A	ENST00000310127.6	-	26	3588	c.3350C>T	c.(3349-3351)gCg>gTg	p.A1117V	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1127V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1117					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCACGACCGCAAAGGACTG	0.637																																						ENST00000539485.1		NA																	0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3379-3381)gCg>gTg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							37.0	45.0	42.0					19																	1785511		2064	4182	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785511G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3350C>T	19.37:g.1785511G>A	ENSP00000311336:p.Ala1117Val	False	False		Somatic	0				ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1117V	p.A1127V			WXS	Illumina HiSeq	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3613	-		Hepatocellular(1079;0.137)	1117					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3380C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777695	0.70107	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.41400	1.0;1.0;1.0	4.48	0.765	0.18470	.	0.470389	0.21414	N	0.074937	T	0.52964	0.1767	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53760	0.51;0.734	T	0.55042	-0.8202	10	0.87932	D	0	.	14.0541	0.64756	0.0:0.4546:0.5454:0.0	.	1117;1080	O60423;Q7Z485	AT8B3_HUMAN;.	V	1117;1127;1080	ENSP00000311336:A1117V;ENSP00000443574:A1127V;ENSP00000437115:A1080V	ENSP00000311336:A1117V	A	-	2	0	ATP8B3	1736511	0.992000	0.36948	0.000000	0.03702	0.063000	0.16089	6.399000	0.73248	-0.033000	0.13736	-0.175000	0.13238	GCG		0.637	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	0	NM_138813		19:1785511
LUM	4060	broad.mit.edu	37	12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443																																						ENST00000266718.4		NA																	1	Substitution - coding silent(1)	p.R170R(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(508-510)Cgg>Tgg		lumican							98.0	100.0	99.0					12																	91502249		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502249G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.508C>T	12.37:g.91502249G>A	ENSP00000266718:p.Arg170Trp	False	False		Somatic	0				LUM_ENST00000548071.1_Intron	p.R170W	NM_002345.3	NP_002336.1	WXS	Illumina HiSeq	Phase_I	P51884	LUM_HUMAN			2	962	-			170					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.508C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841053	0.32513	.	.	ENSG00000139329	ENST00000266718	T	0.58652	0.32	5.6	5.6	0.85130	.	0.355674	0.30329	N	0.009863	T	0.64583	0.2611	L	0.49699	1.58	0.26729	N	0.970633	P	0.49090	0.919	P	0.53062	0.717	T	0.61831	-0.6982	10	0.59425	D	0.04	-14.9632	15.1305	0.72520	0.0:0.1408:0.8592:0.0	.	170	P51884	LUM_HUMAN	W	170	ENSP00000266718:R170W	ENSP00000266718:R170W	R	-	1	2	LUM	90026380	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	2.608000	0.46308	2.648000	0.89879	0.557000	0.71058	CGG		0.443	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	0	NM_002345		12:91502249
ZRSR2	8233	broad.mit.edu	37	X	15827397	15827397	+	Silent	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:15827397T>C	ENST00000307771.7	+	7	537	c.513T>C	c.(511-513)aaT>aaC	p.N171N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	171					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCGAGCTAATTGTCCCTTCT	0.383			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7		NA		Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(511-513)aaT>aaC		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							123.0	108.0	113.0					X																	15827397		2203	4298	6501	SO:0001819	synonymous_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827397T>C	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.513T>C	X.37:g.15827397T>C		False	False		Somatic	0					p.N171N	NM_005089.3	NP_005080.1	WXS	Illumina HiSeq	Phase_I	Q15696	U2AFM_HUMAN			7	537	+	Hepatocellular(33;0.183)		171					Q14D69	Silent	SNP	ENST00000307771.7	37	c.513T>C	CCDS14172.1																																																																																				0.383	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	0	NM_005089		X:15827397
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	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_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
ARHGAP24	83478	broad.mit.edu	37	4	86898803	86898803	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:86898803T>C	ENST00000395184.1	+	8	1353	c.887T>C	c.(886-888)aTc>aCc	p.I296T	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	296	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGTCCTAATATCCTGCGCCCC	0.398																																						ENST00000395184.1		NA																	0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(886-888)aTc>aCc		Rho GTPase activating protein 24							126.0	111.0	116.0					4																	86898803		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86898803T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.887T>C	4.37:g.86898803T>C	ENSP00000378611:p.Ile296Thr	False	False		Somatic	0				ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	p.I296T	NM_001025616.2	NP_001020787.2	WXS	Illumina HiSeq	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	8	1353	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	296			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.887T>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852845	0.91355	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.95	5.95	0.96441	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.986;0.999	D	0.85343	0.1097	10	0.87932	D	0	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	201;203;296	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	T	296;201;211;203	ENSP00000378611:I296T;ENSP00000378610:I201T;ENSP00000425589:I211T;ENSP00000264343:I203T	ENSP00000264343:I203T	I	+	2	0	ARHGAP24	87117827	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATC		0.398	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	0	NM_031305		4:86898803
KIAA1841	84542	broad.mit.edu	37	2	61304193	61304193	+	Silent	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:61304193G>T	ENST00000402291.1	+	6	811	c.570G>T	c.(568-570)gtG>gtT	p.V190V	KIAA1841_ENST00000356719.2_Silent_p.V190V|KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	190										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGAAGAGGTGGACATTTCAG	0.378																																						ENST00000402291.1		NA																	0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(568-570)gtG>gtT		KIAA1841							106.0	109.0	108.0					2																	61304193		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61304193G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.570G>T	2.37:g.61304193G>T		False	False		Somatic	0				KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V	p.V190V	NM_001129993.1	NP_001123465.1	WXS	Illumina HiSeq	Phase_I	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	811	+			190					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.570G>T	CCDS46296.1																																																																																				0.378	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	0	NM_032506		2:61304193
PIGO	84720	broad.mit.edu	37	9	35090660	35090660	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35090660G>A	ENST00000378617.3	-	8	3051	c.2657C>T	c.(2656-2658)aCt>aTt	p.T886I	PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I|PIGO_ENST00000298004.5_Missense_Mutation_p.T469I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	886				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATGGCACAGTAAAAGGACC	0.502																																						ENST00000378617.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2656-2658)aCt>aTt		phosphatidylinositol glycan anchor biosynthesis, class O							54.0	53.0	54.0					9																	35090660		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090660G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2657C>T	9.37:g.35090660G>A	ENSP00000367880:p.Thr886Ile	False	False		Somatic	0				PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I	p.T886I	NM_032634.3	NP_116023.2	WXS	Illumina HiSeq	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3051	-			886	PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2657C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931790	0.34096	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.5;0.49;0.49;0.5	5.18	4.29	0.51040	.	0.358601	0.29205	N	0.012826	T	0.34337	0.0894	N	0.14661	0.345	0.18873	N	0.999982	B;B	0.16802	0.019;0.005	B;B	0.17433	0.018;0.005	T	0.14559	-1.0468	10	0.22109	T	0.4	-16.9499	12.8394	0.57793	0.078:0.0:0.922:0.0	.	469;886	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	469;886;886;469	ENSP00000298004:T469I;ENSP00000367880:T886I;ENSP00000339382:T886I;ENSP00000354678:T469I	ENSP00000298004:T469I	T	-	2	0	PIGO	35080660	0.683000	0.27633	1.000000	0.80357	0.995000	0.86356	0.434000	0.21494	1.424000	0.47217	0.655000	0.94253	ACT		0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	0	NM_032634		9:35090660
FAM91A1	157769	broad.mit.edu	37	8	124787436	124787436	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787436G>C	ENST00000334705.7	+	3	453	c.207G>C	c.(205-207)aaG>aaC	p.K69N	FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	69										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACTGCTAAAGTACAGCCGAG	0.373																																						ENST00000334705.7		NA																	0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(205-207)aaG>aaC		family with sequence similarity 91, member A1							103.0	93.0	96.0					8																	124787436		1906	4122	6028	SO:0001583	missense	157769							g.chr8:124787436G>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.207G>C	8.37:g.124787436G>C	ENSP00000335082:p.Lys69Asn	True	False		Somatic	0				FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	p.K69N	NM_144963.2	NP_659400	WXS	Illumina HiSeq	Phase_I	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	453	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		69					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.207G>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232109	0.22626	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	T;T	0.45276	0.9;1.48	5.33	0.886	0.19194	.	0.000000	0.85682	U	0.000000	T	0.40347	0.1113	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.54964	0.969;0.969	P;P	0.55824	0.785;0.785	T	0.10451	-1.0629	10	0.38643	T	0.18	.	8.227	0.31575	0.5698:0.0:0.4302:0.0	.	69;69	E7ER68;Q658Y4	.;F91A1_HUMAN	N	69	ENSP00000429491:K69N;ENSP00000335082:K69N	ENSP00000335082:K69N	K	+	3	2	FAM91A1	124856617	1.000000	0.71417	0.906000	0.35671	0.595000	0.36748	2.248000	0.43160	0.215000	0.20761	-0.136000	0.14681	AAG		0.373	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	0	NM_144963		8:124787436
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:6225029A>G	ENST00000264870.3	-	7	1128	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507																																						ENST00000264870.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(862-864)gTc>gCc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110.0	104.0	106.0					6																	6225029		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225029A>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.863T>C	6.37:g.6225029A>G	ENSP00000264870:p.Val288Ala	True	False		Somatic	0					p.V288A	NM_000129.3	NP_000120.2	WXS	Illumina HiSeq	Phase_I	P00488	F13A_HUMAN			7	1128	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.863T>C	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.832090|2.832090	0.50845|0.50845	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96041	.|-3.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.93390|0.93390	0.7892|0.7892	M|M	0.62209|0.62209	1.925|1.925	0.20489|0.20489	N|N	0.999891|0.999891	.|P;P	.|0.43788	.|0.66;0.817	.|B;P	.|0.47015	.|0.23;0.534	D|D	0.89821|0.89821	0.3989|0.3989	5|10	.|0.52906	.|T	.|0.07	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	P|A	5|288;225	.|ENSP00000264870:V288A	.|ENSP00000264870:V288A	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	0	NM_000129		6:6225029
PSG3	5671	broad.mit.edu	37	19	43237088	43237088	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:43237088C>T	ENST00000327495.5	-	3	741	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG3_ENST00000595140.1_Missense_Mutation_p.S186N|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	186	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.488																																						ENST00000327495.5		NA																	0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(556-558)aGc>aAc		pregnancy specific beta-1-glycoprotein 3							231.0	230.0	230.0					19																	43237088		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237088C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.557G>A	19.37:g.43237088C>T	ENSP00000332215:p.Ser186Asn	False	False		Somatic	0				PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	p.S186N	NM_021016.3	NP_066296.2	WXS	Illumina HiSeq	Phase_I	Q16557	PSG3_HUMAN			3	741	-		Prostate(69;0.00682)	186			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.557G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	7.246	0.602252	0.13939	.	.	ENSG00000221826	ENST00000327495	T	0.12361	2.69	1.59	-1.53	0.08611	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12774	0.0310	M	0.64567	1.98	0.09310	N	1	B;B	0.28378	0.209;0.006	B;B	0.30782	0.12;0.012	T	0.36212	-0.9757	9	0.54805	T	0.06	.	2.5923	0.04846	0.0:0.4556:0.3146:0.2298	.	164;186	Q08266;Q16557	.;PSG3_HUMAN	N	186	ENSP00000332215:S186N	ENSP00000332215:S186N	S	-	2	0	PSG3	47928928	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-0.592000	0.05747	0.021000	0.15133	0.393000	0.25936	AGC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	0	NM_021016		19:43237088
RBP3	5949	broad.mit.edu	37	10	48389752	48389752	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:48389752G>A	ENST00000224600.4	-	1	1239	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	376	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGCCTGCAGGCCGGCATTG	0.652																																						ENST00000224600.4		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1126-1128)Ctg>Ttg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						33.0	36.0	35.0					10																	48389752		2201	4300	6501	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389752G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1126C>T	10.37:g.48389752G>A		False	False		Somatic	0					p.L376L	NM_002900.2	NP_002891.1	WXS	Illumina HiSeq	Phase_I	P10745	RET3_HUMAN			1	1239	-			376			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1126C>T	CCDS7218.1																																																																																				0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	NM_002900		10:48389752
PMS2	5395	broad.mit.edu	37	7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	96					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTAGGTCGGCAAACTCTTG	0.403			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7		NA	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(286-288)gCc>gTc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							55.0	62.0	60.0					7																	6043387		1424	2456	3880	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043387G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.287C>T	7.37:g.6043387G>A	ENSP00000265849:p.Ala96Val	False	False		Somatic	0				PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron	p.A96V	NM_000535.5	NP_000526	WXS	Illumina HiSeq	Phase_I	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	392	-		Ovarian(82;0.0694)	96					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.287C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760290	0.49468	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.74421	-0.84;-0.84;-0.84	5.68	4.8	0.61643	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.181750	0.48767	D	0.000165	T	0.68467	0.3004	L	0.45698	1.435	0.80722	D	1	B;P;P	0.49447	0.025;0.924;0.493	B;B;B	0.40677	0.003;0.337;0.12	T	0.67229	-0.5723	10	0.27082	T	0.32	-5.7265	16.7528	0.85490	0.0:0.1292:0.8708:0.0	.	96;96;96	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	96;49;96;96	ENSP00000265849:A96V;ENSP00000371758:A96V;ENSP00000384308:A96V	ENSP00000265849:A96V	A	-	2	0	PMS2	6009913	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.309000	0.72825	1.383000	0.46405	0.484000	0.47621	GCC		0.403	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	NM_000535		7:6043387
LRRTM4	80059	broad.mit.edu	37	2	77745555	77745555	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:77745555A>G	ENST00000409093.1	-	3	1776	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409088.3_Silent_p.P480P|LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409911.1_Silent_p.P481P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	480					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCCTGTAAAGGGGAATTCA	0.473																																						ENST00000409088.3		NA																	0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1438-1440)ccT>ccC		leucine rich repeat transmembrane neuronal 4							91.0	88.0	89.0					2																	77745555		1871	4108	5979	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745555A>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1440T>C	2.37:g.77745555A>G		True	False		Somatic	0				LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409093.1_Silent_p.P480P	p.P480P	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	WXS	Illumina HiSeq	Phase_I	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1854	-			480					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1440T>C	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	0	NM_024993		2:77745555
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3		NA																	0					NA						c.(868-870)cGc>cAc		NOP9 nucleolar protein							153.0	156.0	155.0					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His	False	False		Somatic	0				NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1	WXS	Illumina HiSeq	Phase_I					4	962	+			NA					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2	0			14:24771231
RMDN2	151393	broad.mit.edu	37	2	38202438	38202438	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:38202438G>T	ENST00000406384.1	+	4	905	c.711G>T	c.(709-711)aaG>aaT	p.K237N	RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000407257.1_Missense_Mutation_p.K415N|RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	237						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K415N(1)									CACAAGAAAAGAAACATTATG	0.323																																						ENST00000407257.1		NA																	1	Substitution - Missense(1)	p.K415N(1)	large_intestine(1)		NA						c.(1243-1245)aaG>aaT		regulator of microtubule dynamics 2							106.0	106.0	106.0					2																	38202438		2203	4299	6502	SO:0001583	missense	151393							g.chr2:38202438G>T	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.711G>T	2.37:g.38202438G>T	ENSP00000386004:p.Lys237Asn	True	False		Somatic	0				RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N|RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.K237N	p.K415N			WXS	Illumina HiSeq	Phase_I					4	1392	+			NA					A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1245G>T	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117169	0.56505	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.95	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89214	3.015	0.51012	D	0.999909	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.999;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	9.3542	0.38157	0.0997:0.0:0.9003:0.0	.	415;92;237;92	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	N	237;237;415;92;415;92	ENSP00000346549:K237N;ENSP00000386004:K237N;ENSP00000385049:K415N;ENSP00000392977:K92N;ENSP00000234195:K415N;ENSP00000416367:K92N	ENSP00000234195:K415N	K	+	3	2	FAM82A1	38055942	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.512000	0.35812	2.569000	0.86673	0.467000	0.42956	AAG		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	0	NM_144713		2:38202438
FSD2	123722	broad.mit.edu	37	15	83428187	83428187	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:83428187A>T	ENST00000334574.8	-	13	2344	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	FSD2_ENST00000541889.1_Missense_Mutation_p.F676L|RP11-752G15.6_ENST00000559366.1_RNA|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000561107.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	721	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGGGATGCACAAATTCGTGAA	0.353																																						ENST00000334574.8		NA																	0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(2161-2163)ttT>ttA		fibronectin type III and SPRY domain containing 2							69.0	68.0	68.0					15																	83428187		1850	4099	5949	SO:0001583	missense	123722							g.chr15:83428187A>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2163T>A	15.37:g.83428187A>T	ENSP00000335651:p.Phe721Leu	True	False		Somatic	0				FSD2_ENST00000541889.1_Missense_Mutation_p.F676L	p.F721L			WXS	Illumina HiSeq	Phase_I	A1L4K1	FSD2_HUMAN			13	2344	-			721			B30.2/SPRY.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.2163T>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	a	7.160	0.585445	0.13749	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.12774	2.65;2.65	5.86	0.72	0.18214	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.615004	0.18017	N	0.154344	T	0.06416	0.0165	N	0.17312	0.475	0.21652	N	0.999601	B;B	0.09022	0.001;0.002	B;B	0.14578	0.008;0.011	T	0.43180	-0.9407	10	0.11485	T	0.65	-4.2398	6.5093	0.22212	0.4824:0.3813:0.1363:0.0	.	676;721	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	721;676	ENSP00000335651:F721L;ENSP00000444078:F676L	ENSP00000335651:F721L	F	-	3	2	FSD2	81225241	0.478000	0.25917	0.213000	0.23690	0.726000	0.41606	-0.045000	0.12003	0.146000	0.19002	-0.319000	0.08680	TTT		0.353	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	0	NM_001007122		15:83428187
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4		NA																	1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr	True	False		Somatic	0				ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina HiSeq	Phase_I	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	0	NM_130442		7:37382282
POTEM	641455	broad.mit.edu	37	14	20019852	20019852	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:20019852G>A	ENST00000551509.1	-	1	420	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	123										endometrium(4)|kidney(1)|lung(4)	9						CGCTGTCGTCGTAGTCTCCCC	0.597																																						ENST00000551509.1		NA																	0				endometrium(4)|kidney(1)|lung(4)	9						c.(367-369)taC>taT		POTE ankyrin domain family, member M							50.0	59.0	57.0					14																	20019852		340	1061	1401	SO:0001819	synonymous_variant	641455							g.chr14:20019852G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.369C>T	14.37:g.20019852G>A		False	False		Somatic	0					p.Y123Y	NM_001145442.1	NP_001138914.1	WXS	Illumina HiSeq	Phase_I	A6NI47	POTEM_HUMAN			1	420	-			123						Silent	SNP	ENST00000551509.1	37	c.369C>T	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	0	NM_001145442		14:20019852
IQCE	23288	broad.mit.edu	37	7	2617923	2617923	+	Silent	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:2617923C>T	ENST00000402050.2	+	7	697	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IQCE_ENST00000438376.2_Silent_p.L155L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000325979.7_Silent_p.L106L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	171						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAACGAAGCTCCGGCGCCTGG	0.612																																						ENST00000402050.2		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(511-513)ctC>ctT		IQ motif containing E							65.0	75.0	72.0					7																	2617923		2146	4247	6393	SO:0001819	synonymous_variant	23288							g.chr7:2617923C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.513C>T	7.37:g.2617923C>T		False	False		Somatic	0				IQCE_ENST00000325979.7_Silent_p.L106L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000438376.2_Silent_p.L155L	p.L171L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	WXS	Illumina HiSeq	Phase_I	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	7	697	+		Ovarian(82;0.0112)	171					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.513C>T	CCDS43542.1																																																																																				0.612	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	0	NM_152558		7:2617923
COL24A1	255631	broad.mit.edu	37	1	86196283	86196283	+	Silent	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:86196283A>G	ENST00000370571.2	-	60	5457	c.5091T>C	c.(5089-5091)caT>caC	p.H1697H	COL24A1_ENST00000436319.1_Silent_p.H1676H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1697	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTTTTGAGATGAGGAAGTT	0.393																																						ENST00000370571.2		NA																	0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(5089-5091)caT>caC		collagen, type XXIV, alpha 1							144.0	135.0	138.0					1																	86196283		1869	4101	5970	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86196283A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.5091T>C	1.37:g.86196283A>G		False	False		Somatic	0				COL24A1_ENST00000436319.1_Silent_p.H1676H	p.H1697H	NM_152890.5	NP_690850.2	WXS	Illumina HiSeq	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	60	5457	-			1697			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.5091T>C	CCDS41353.1																																																																																				0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	0	NM_152890		1:86196283
KCNH3	23416	broad.mit.edu	37	12	49943305	49943305	+	Missense_Mutation	SNP	G	G	A	rs201995852		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49943305G>A	ENST00000257981.6	+	9	1810	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	517					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCACAGCCGCACGCGCGAC	0.637																																						ENST00000257981.6		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1549-1551)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 3							81.0	70.0	74.0					12																	49943305		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943305G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1550G>A	12.37:g.49943305G>A	ENSP00000257981:p.Arg517His	False	False		Somatic	0					p.R517H	NM_012284.1	NP_036416.1	WXS	Illumina HiSeq	Phase_I	Q9ULD8	KCNH3_HUMAN			9	1810	+			517					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1550G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976805	0.92982	.	.	ENSG00000135519	ENST00000257981	D	0.96802	-4.13	4.89	4.0	0.46444	Cyclic nucleotide-binding-like (1);	0.136777	0.34460	N	0.003957	D	0.93406	0.7897	M	0.65320	2	0.44073	D	0.996821	P	0.51791	0.948	B	0.36186	0.219	D	0.92864	0.6308	10	0.72032	D	0.01	.	11.3196	0.49412	0.0892:0.0:0.9108:0.0	.	517	Q9ULD8	KCNH3_HUMAN	H	517	ENSP00000257981:R517H	ENSP00000257981:R517H	R	+	2	0	KCNH3	48229572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.599000	0.74127	1.441000	0.47550	-0.140000	0.14226	CGC		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	NM_012284		12:49943305
PXDNL	137902	broad.mit.edu	37	8	52321490	52321490	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:52321490G>A	ENST00000356297.4	-	17	2794	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	PXDNL_ENST00000543296.1_Silent_p.N898N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	898					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCGTAAACGTTGGAGCCAT	0.622																																						ENST00000356297.4		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2692-2694)aaC>aaT		peroxidasin homolog (Drosophila)-like							43.0	48.0	46.0					8																	52321490		2017	4166	6183	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321490G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2694C>T	8.37:g.52321490G>A		False	False		Somatic	0				PXDNL_ENST00000543296.1_Silent_p.N898N	p.N898N	NM_144651.4	NP_653252	WXS	Illumina HiSeq	Phase_I	A1KZ92	PXDNL_HUMAN			17	2794	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	898					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2694C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159576	0.01686	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.01	-2.84	0.05751	.	.	.	.	.	T	0.47154	0.1430	.	.	.	0.51482	D	0.999926	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	4.4763	0.11745	0.6029:0.0:0.2268:0.1703	.	.	.	.	M	17	.	.	T	-	2	0	PXDNL	52484043	0.178000	0.23122	0.000000	0.03702	0.005000	0.04900	-0.180000	0.09754	-0.477000	0.06832	0.655000	0.94253	ACG		0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	0	NM_144651		8:52321490
CD72	971	broad.mit.edu	37	9	35612958	35612958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612958G>A	ENST00000396757.1	-	7	885	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*			P21854	CD72_HUMAN	CD72 molecule	241	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTTTCTGATGCATTATC	0.423																																						ENST00000396757.1		NA																	0				large_intestine(5)|liver(1)|lung(6)	12						c.(721-723)Cag>Tag		CD72 molecule							176.0	158.0	164.0					9																	35612958		2203	4300	6503	SO:0001587	stop_gained	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612958G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.721C>T	9.37:g.35612958G>A	ENSP00000379980:p.Gln241*	False	False		Somatic	0				CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*	p.Q241*			WXS	Illumina HiSeq	Phase_I	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	885	-			241			C-type lectin.			Nonsense_Mutation	SNP	ENST00000396757.1	37	c.721C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246112	0.39697	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	5.64	-8.57	0.00900	.	1.612920	0.03479	N	0.214846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.8721	5.8297	0.18574	0.1016:0.1066:0.5565:0.2353	.	.	.	.	X	241	.	ENSP00000259633:Q241X	Q	-	1	0	CD72	35602958	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.213000	0.02991	-1.115000	0.02973	-0.345000	0.07892	CAG		0.423	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	0	NM_001782		9:35612958
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
CD72	971	broad.mit.edu	37	9	35612889	35612889	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612889G>A	ENST00000396757.1	-	7	954	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.L264L			P21854	CD72_HUMAN	CD72 molecule	264	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGAAGACAGAGTTTCACAT	0.418																																						ENST00000396757.1		NA																	0				large_intestine(5)|liver(1)|lung(6)	12						c.(790-792)Ctg>Ttg		CD72 molecule							255.0	228.0	237.0					9																	35612889		2203	4300	6503	SO:0001819	synonymous_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35612889G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.790C>T	9.37:g.35612889G>A		False	False		Somatic	0				CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.L264L	p.L264L			WXS	Illumina HiSeq	Phase_I	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	954	-			264			C-type lectin.			Silent	SNP	ENST00000396757.1	37	c.790C>T	CCDS6581.1																																																																																				0.418	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	0	NM_001782		9:35612889
MPC2	25874	broad.mit.edu	37	1	167893745	167893745	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:167893745A>C	ENST00000367846.4	-	2	338	c.140T>G	c.(139-141)aTt>aGt	p.I47S	MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	47					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										CCATTTCATAATTGGAGCCCA	0.308																																						ENST00000367846.4		NA																	0					NA						c.(139-141)aTt>aGt		mitochondrial pyruvate carrier 2							20.0	21.0	21.0					1																	167893745		2202	4288	6490	SO:0001583	missense	25874							g.chr1:167893745A>C		CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.140T>G	1.37:g.167893745A>C	ENSP00000356820:p.Ile47Ser	False	False		Somatic	0				MPC2_ENST00000271373.4_Missense_Mutation_p.I47S	p.I47S	NM_015415.3	NP_056230.1	WXS	Illumina HiSeq	Phase_I					2	338	-			NA					A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	37	c.140T>G	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990970	0.74703	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.71934	-0.61;-0.61;-0.61	5.72	5.72	0.89469	.	0.194064	0.52532	D	0.000064	T	0.49795	0.1578	L	0.42008	1.315	0.36777	D	0.884147	P;P	0.39717	0.684;0.684	B;B	0.35182	0.197;0.197	T	0.61657	-0.7018	9	0.51188	T	0.08	-5.0285	13.8186	0.63308	1.0:0.0:0.0:0.0	.	47;47	B2R4Q7;O95563	.;BR44_HUMAN	S	47	ENSP00000356820:I47S;ENSP00000271373:I47S;ENSP00000392874:I47S	ENSP00000271373:I47S	I	-	2	0	BRP44	166160369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.363000	0.79516	2.311000	0.77944	0.533000	0.62120	ATT		0.308	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	0	NM_015415		1:167893745
SLC35B3	51000	broad.mit.edu	37	6	8430252	8430252	+	Missense_Mutation	SNP	C	C	T	rs550117055		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:8430252C>T	ENST00000379660.4	-	3	591	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M|SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	48					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTGGATGGCACAGTGATAGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17154	0.001		0.0	False		,,,				2504	0.0				Melanoma(83;700 1353 9357 11478 30548)	ENST00000379660.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15						c.(142-144)Gtg>Atg		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3							180.0	159.0	166.0					6																	8430252		2203	4300	6503	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8430252C>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.142G>A	6.37:g.8430252C>T	ENSP00000368981:p.Val48Met	False	False		Somatic	0				SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M|SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M	p.V48M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	WXS	Illumina HiSeq	Phase_I	Q9H1N7	S35B3_HUMAN			3	591	-	Ovarian(93;0.0569)		48					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.142G>A	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537066	0.45176	.	.	ENSG00000124786	ENST00000379660;ENST00000339306;ENST00000426876	T;T	0.54071	1.23;0.59	5.88	4.09	0.47781	.	0.219196	0.48286	N	0.000187	T	0.23572	0.0570	L	0.32530	0.975	0.45946	D	0.998777	P;B;B	0.51351	0.944;0.022;0.039	B;B;B	0.40825	0.341;0.014;0.014	T	0.03503	-1.1030	9	.	.	.	-9.0483	9.1897	0.37191	0.0:0.7267:0.0:0.2733	.	48;48;48	B4E2F5;Q9H1N7;B2R8V5	.;S35B3_HUMAN;.	M	48;48;114	ENSP00000368981:V48M;ENSP00000345902:V48M	.	V	-	1	0	SLC35B3	8375251	0.999000	0.42202	0.964000	0.40570	0.978000	0.69477	1.891000	0.39738	1.503000	0.48686	0.637000	0.83480	GTG		0.378	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	0	NM_015948		6:8430252
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
PNKP	11284	broad.mit.edu	37	19	50365046	50365046	+	Silent	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:50365046G>A	ENST00000322344.3	-	14	1390	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	PNKP_ENST00000600910.1_Intron|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000596014.1_Silent_p.D427D|AC018766.5_ENST00000599259.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600573.1_Silent_p.D396D	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	427	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGCTCGCGGCGTCTGGGTTTG	0.687								Other BER factors																														ENST00000322344.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1279-1281)gaC>gaT	Other BER factors	polynucleotide kinase 3'-phosphatase																																				SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365046G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1281C>T	19.37:g.50365046G>A		False	False		Somatic	0				PNKP_ENST00000600910.1_Intron|PNKP_ENST00000596014.1_Silent_p.D427D|PNKP_ENST00000600573.1_Silent_p.D396D	p.D427D	NM_007254.3	NP_009185.2	WXS	Illumina HiSeq	Phase_I	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	14	1390	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	427					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.1281C>T	CCDS12783.1																																																																																				0.687	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	0	NM_007254		19:50365046
NYNRIN	57523	broad.mit.edu	37	14	24886612	24886612	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24886612A>G	ENST00000382554.3	+	9	5975	c.5657A>G	c.(5656-5658)aAg>aGg	p.K1886R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1886					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTTTGCCAAGAGTGGCACC	0.637																																						ENST00000382554.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5656-5658)aAg>aGg		NYN domain and retroviral integrase containing							12.0	13.0	13.0					14																	24886612		1912	4107	6019	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886612A>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5657A>G	14.37:g.24886612A>G	ENSP00000371994:p.Lys1886Arg	False	False		Somatic	0					p.K1886R	NM_025081.2	NP_079357.2	WXS	Illumina HiSeq	Phase_I	Q9P2P1	NYNRI_HUMAN			9	5975	+			1886					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5657A>G	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706588	0.48412	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	3.72	0.42706	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.22954	N	0.998512	B	0.15719	0.014	B	0.12156	0.007	T	0.28554	-1.0040	9	0.62326	D	0.03	.	7.2504	0.26146	0.8999:0.0:0.1001:0.0	.	1886	Q9P2P1	NYNRI_HUMAN	R	1886	ENSP00000371994:K1886R	ENSP00000371994:K1886R	K	+	2	0	NYNRIN	23956452	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.953000	0.56699	0.983000	0.38602	0.460000	0.39030	AAG		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0			14:24886612
ZNF160	90338	broad.mit.edu	37	19	53572263	53572263	+	Silent	SNP	A	A	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:53572263A>C	ENST00000429604.1	-	7	1939	c.1524T>G	c.(1522-1524)ccT>ccG	p.P508P	ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P|ZNF160_ENST00000601421.1_Silent_p.P472P	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	508					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TACACTTGTAAGGTTTCTCTC	0.383																																						ENST00000601421.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1414-1416)ccT>ccG		zinc finger protein 160							100.0	101.0	101.0					19																	53572263		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572263A>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1524T>G	19.37:g.53572263A>C		False	False		Somatic	0				ZNF160_ENST00000429604.1_Silent_p.P508P|ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P	p.P472P			WXS	Illumina HiSeq	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2292	-			508					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.1416T>G	CCDS12859.1																																																																																				0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	0	NM_033288		19:53572263
NRXN1	9378	broad.mit.edu	37	2	50765572	50765572	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:50765572T>G	ENST00000406316.2	-	10	3438	c.1962A>C	c.(1960-1962)aaA>aaC	p.K654N	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N|NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000404971.1_Missense_Mutation_p.K694N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	654	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCGGATATCTTTGCTTTGGC	0.498																																						ENST00000404971.1		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2080-2082)aaA>aaC		neurexin 1							249.0	261.0	257.0					2																	50765572		2195	4297	6492	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765572T>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1962A>C	2.37:g.50765572T>G	ENSP00000384311:p.Lys654Asn	True	False		Somatic	0				NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K654N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N	p.K694N	NM_001135659.1	NP_001129131.1	WXS	Illumina HiSeq	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3421	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	654			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2082A>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381063	0.61845	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.66939	2.045	0.36502	D	0.869045	D;D;P	0.61697	0.99;0.967;0.729	P;P;B	0.62885	0.908;0.592;0.334	D	0.87073	0.2161	10	0.66056	D	0.02	.	10.8231	0.46617	0.0:0.074:0.0:0.926	.	694;654;646	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	694;654;646;654;695;646;654	ENSP00000385142:K694N;ENSP00000384311:K654N;ENSP00000434015:K646N;ENSP00000385017:K654N;ENSP00000385434:K646N;ENSP00000385681:K654N	ENSP00000385017:K654N	K	-	3	2	NRXN1	50619076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.983000	0.38602	0.477000	0.44152	AAA		0.498	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	0			2:50765572
SF3B2	10992	broad.mit.edu	37	11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:65826742C>T	ENST00000322535.6	+	11	1302	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A401V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	418					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532																																						ENST00000528302.1		NA																	0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1201-1203)gCc>gTc		splicing factor 3b, subunit 2, 145kDa							62.0	55.0	58.0					11																	65826742		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826742C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1253C>T	11.37:g.65826742C>T	ENSP00000318861:p.Ala418Val	True	False		Somatic	0				SF3B2_ENST00000322535.6_Missense_Mutation_p.A418V	p.A401V			WXS	Illumina HiSeq	Phase_I	Q13435	SF3B2_HUMAN			10	1256	+			418					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1202C>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315405	0.23908	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	-0.939	0.10408	.	0.379232	0.29073	N	0.013223	T	0.23289	0.0563	L	0.27053	0.805	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	9	0.18276	T	0.48	0.0053	8.4596	0.32921	0.0:0.4852:0.0:0.5148	.	418	Q13435	SF3B2_HUMAN	V	401;418;322	.	ENSP00000318861:A418V	A	+	2	0	SF3B2	65583318	0.339000	0.24784	0.028000	0.17463	0.984000	0.73092	0.269000	0.18589	-0.516000	0.06470	0.555000	0.69702	GCC		0.532	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2	0			11:65826742
TLR6	10333	broad.mit.edu	37	4	38830535	38830535	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:38830535T>A	ENST00000381950.1	-	1	625	c.560A>T	c.(559-561)gAg>gTg	p.E187V	TLR6_ENST00000436693.2_Missense_Mutation_p.E187V			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	187					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTTCTGTCTCATTTTCTTT	0.318																																						ENST00000436693.2		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(559-561)gAg>gTg		toll-like receptor 6							30.0	33.0	32.0					4																	38830535		2193	4299	6492	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830535T>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.560A>T	4.37:g.38830535T>A	ENSP00000371376:p.Glu187Val	False	False		Somatic	0				TLR6_ENST00000381950.1_Missense_Mutation_p.E187V	p.E187V	NM_006068.4	NP_006059.2	WXS	Illumina HiSeq	Phase_I	Q9Y2C9	TLR6_HUMAN			2	679	-			187					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.560A>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	6.087	0.384310	0.11524	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.02301	4.35;4.35	5.44	1.66	0.24008	.	0.426300	0.23090	N	0.052057	T	0.03564	0.0102	M	0.77103	2.36	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33523	-0.9865	10	0.87932	D	0	.	4.5985	0.12341	0.1363:0.2183:0.0:0.6454	.	187	Q9Y2C9	TLR6_HUMAN	V	187	ENSP00000389600:E187V;ENSP00000371376:E187V	ENSP00000371376:E187V	E	-	2	0	TLR6	38506930	0.005000	0.15991	0.001000	0.08648	0.507000	0.33981	0.664000	0.25068	0.350000	0.24002	0.260000	0.18958	GAG		0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	0			4:38830535
FAM91A1	157769	broad.mit.edu	37	8	124787493	124787493	+	Silent	SNP	A	A	G	rs368811106		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787493A>G	ENST00000334705.7	+	3	510	c.264A>G	c.(262-264)aaA>aaG	p.K88K	FAM91A1_ENST00000521166.1_Silent_p.K88K	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	88										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATGGTGAAAGGCTTGAGGA	0.438																																						ENST00000334705.7		NA																	0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(262-264)aaA>aaG		family with sequence similarity 91, member A1		G		0,3922		0,0,1961	135.0	124.0	127.0		264	1.5	1.0	8		127	1,8293		0,1,4146	no	coding-synonymous	FAM91A1	NM_144963.2		0,1,6107	GG,GA,AA		0.0121,0.0,0.0082		88/839	124787493	1,12215	1961	4147	6108	SO:0001819	synonymous_variant	157769							g.chr8:124787493A>G	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.264A>G	8.37:g.124787493A>G		True	False		Somatic	0				FAM91A1_ENST00000521166.1_Silent_p.K88K	p.K88K	NM_144963.2	NP_659400	WXS	Illumina HiSeq	Phase_I	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	510	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		88					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.264A>G	CCDS6346.2																																																																																				0.438	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	0	NM_144963		8:124787493
C19orf35	374872	broad.mit.edu	37	19	2278825	2278825	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:2278825A>T	ENST00000342063.3	-	3	463	c.370T>A	c.(370-372)Tcc>Acc	p.S124T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	124										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGGAGGGAGAGGCCCAGT	0.687																																						ENST00000342063.3		NA																	0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(370-372)Tcc>Acc		chromosome 19 open reading frame 35							9.0	10.0	10.0					19																	2278825		2181	4282	6463	SO:0001583	missense	374872							g.chr19:2278825A>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.370T>A	19.37:g.2278825A>T	ENSP00000345102:p.Ser124Thr	True	False		Somatic	0					p.S124T	NM_198532.2	NP_940934.1	WXS	Illumina HiSeq	Phase_I	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	463	-			124						Missense_Mutation	SNP	ENST00000342063.3	37	c.370T>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655242	0.14580	.	.	ENSG00000188305	ENST00000342063	T	0.14144	2.53	4.16	-0.449	0.12226	.	.	.	.	.	T	0.08179	0.0204	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.29176	0.099	T	0.37103	-0.9720	9	0.11485	T	0.65	.	4.3547	0.11172	0.4382:0.0:0.3987:0.1632	.	124	Q6ZS72	CS035_HUMAN	T	124	ENSP00000345102:S124T	ENSP00000345102:S124T	S	-	1	0	C19orf35	2229825	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.277000	0.08502	-0.538000	0.06281	0.363000	0.22086	TCC		0.687	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	0	NM_198532		19:2278825
FBN1	2200	broad.mit.edu	37	15	48714160	48714160	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:48714160G>A	ENST00000316623.5	-	61	8014	c.7559C>T	c.(7558-7560)aCg>aTg	p.T2520M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATGCAGGACGTATGGTGTTG	0.433																																						ENST00000316623.5		NA																	0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM074795	FBN1	M		c.(7558-7560)aCg>aTg		fibrillin 1							107.0	92.0	97.0					15																	48714160		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48714160G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7559C>T	15.37:g.48714160G>A	ENSP00000325527:p.Thr2520Met	False	False		Somatic	0					p.T2520M	NM_000138.4	NP_000129	WXS	Illumina HiSeq	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	61	8014	-		all_lung(180;0.00279)	2520			EGF-like 43; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7559C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480453	0.63849	.	.	ENSG00000166147	ENST00000316623	D	0.92858	-3.12	6.08	6.08	0.98989	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091594	0.85682	D	0.000000	D	0.95214	0.8448	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.93720	0.7032	10	0.40728	T	0.16	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2520	P35555	FBN1_HUMAN	M	2520	ENSP00000325527:T2520M	ENSP00000325527:T2520M	T	-	2	0	FBN1	46501452	1.000000	0.71417	0.849000	0.33467	0.618000	0.37518	5.623000	0.67757	2.894000	0.99253	0.655000	0.94253	ACG		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	0			15:48714160
SLIT2	9353	broad.mit.edu	37	4	20618553	20618553	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:20618553G>A	ENST00000504154.1	+	35	4120	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1290	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGAGTAACGTGGCATCTCT	0.562																																						ENST00000504154.1		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3868-3870)Gtg>Atg		slit homolog 2 (Drosophila)							44.0	43.0	43.0					4																	20618553		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618553G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3868G>A	4.37:g.20618553G>A	ENSP00000422591:p.Val1290Met	False	False		Somatic	0				SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M	p.V1290M	NM_004787.1	NP_004778.1	WXS	Illumina HiSeq	Phase_I	O94813	SLIT2_HUMAN			35	4120	+			1290			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3868G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062304	0.55432	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.96	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.919326	0.09535	N	0.788994	T	0.60702	0.2289	N	0.25890	0.77	0.28499	N	0.914096	P;P	0.41673	0.759;0.678	B;B	0.35413	0.197;0.202	T	0.55418	-0.8144	10	0.45353	T	0.12	.	10.0633	0.42288	0.2:0.0:0.8:0.0	.	1282;1290	O94813-3;O94813	.;SLIT2_HUMAN	M	1282;1290;1303;1286;1286	ENSP00000427548:V1282M;ENSP00000422591:V1290M;ENSP00000273739:V1303M;ENSP00000422261:V1286M	ENSP00000273739:V1303M	V	+	1	0	SLIT2	20227651	0.979000	0.34478	0.997000	0.53966	0.989000	0.77384	1.895000	0.39778	2.833000	0.97629	0.650000	0.86243	GTG		0.562	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	0			4:20618553
ADAM11	4185	broad.mit.edu	37	17	42851860	42851860	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:42851860T>C	ENST00000200557.6	+	13	1247	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCACCCCCAGTACGGCAACAT	0.632																																						ENST00000200557.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1078-1080)Tac>Cac		ADAM metallopeptidase domain 11							40.0	37.0	38.0					17																	42851860		2202	4300	6502	SO:0001630	splice_region_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42851860T>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1078-1T>C	17.37:g.42851860T>C		False	False		Somatic	0				ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	p.Y360H	NM_002390.4	NP_002381.2	WXS	Illumina HiSeq	Phase_I	O75078	ADA11_HUMAN			13	1247	+		Prostate(33;0.0959)	360			Peptidase M12B.		Q14808|Q14809|Q14810	Splice_Site	SNP	ENST00000200557.6	37	c.1078T>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812808	0.90707	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09817	2.94;2.94	5.04	5.04	0.67666	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.213347	0.41605	D	0.000843	T	0.23926	0.0579	L	0.45051	1.395	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.73708	0.98;0.981	T	0.00675	-1.1615	9	.	.	.	.	13.8849	0.63702	0.0:0.0:0.0:1.0	.	160;360	B4DKD2;O75078	.;ADA11_HUMAN	H	360;160;260	ENSP00000200557:Y360H;ENSP00000443773:Y160H	.	Y	+	1	0	ADAM11	40207386	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.862000	0.69560	2.111000	0.64477	0.379000	0.24179	TAC		0.632	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	0	NM_002390	Missense_Mutation	17:42851860
