#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
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	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
MLPH	79083	broad.mit.edu	37	2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-	rs2271809|rs386656756	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:238449105_238449107delGAA	ENST00000264605.3	+	10	1513_1515	c.1219_1221delGAA	c.(1219-1221)gaadel	p.E407del	MLPH_ENST00000410032.1_In_Frame_Del_p.E264del|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	407					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621																																						ENST00000410032.1		NA																	1	Substitution - coding silent(1)	p.E407E(1)	stomach(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(790-792)gaadel		melanophilin																																				SO:0001651	inframe_deletion	79083						metal ion binding	g.chr2:238449105_238449107delGAA	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1219_1221delGAA	2.37:g.238449105_238449107delGAA	ENSP00000264605:p.Glu407del	True	False		Somatic	1				MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del	p.E264del			WXS	Illumina HiSeq	Phase_I	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	8	1183_1185	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	259					B3KSS2|B4DKW7|G5E9G5|Q9HA71	In_Frame_Del	DEL	ENST00000264605.3	37	c.790_792delGAA	CCDS2518.1																																																																																				0.621	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	0	NM_024101		2:238449105
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
RAD50	10111	broad.mit.edu	37	5	131953986	131953987	+	Splice_Site	DEL	AG	AG	-			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:131953986_131953987delAG	ENST00000265335.6	+	21	3776	c.3389delAG	c.(3388-3390)cag>cg	p.Q1130fs	RAD50_ENST00000378823.3_Splice_Site_p.Q991fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1130					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTTGACCAGTAAGTATTAG	0.292								Homologous recombination																														ENST00000265335.6		NA																	0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(3388-3390)cag>cg	Homologous recombination	RAD50 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953986_131953987delAG	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3389+1AG>-	5.37:g.131953986_131953987delAG		True	False		Somatic	1				RAD50_ENST00000378823.3_Splice_Site_p.Q991fs	p.Q1130fs			WXS	Illumina HiSeq	Phase_I	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3776	+		all_cancers(142;0.0368)|Breast(839;0.198)	1130					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Splice_Site	DEL	ENST00000265335.6	37	c.3389delAG	CCDS34233.1																																																																																				0.292	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	0	NM_005732	Frame_Shift_Del	5:131953986
SLC39A12	221074	broad.mit.edu	37	10	18292166	18292166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:18292166delG	ENST00000377369.2	+	12	2099	c.1826delG	c.(1825-1827)agcfs	p.S610fs	SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.S609fs|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	610					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTTATAAGCTCCCTAACT	0.418																																						ENST00000377371.3		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1822-1824)agcfs		solute carrier family 39 (zinc transporter), member 12							190.0	183.0	185.0					10																	18292166		2203	4300	6503	SO:0001589	frameshift_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292166delG		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1826delG	10.37:g.18292166delG	ENSP00000366586:p.Ser610fs	False	False		Somatic	1				SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12_ENST00000377369.2_Frame_Shift_Del_p.S610fs	p.S609fs			WXS	Illumina HiSeq	Phase_I	Q504Y0	S39AC_HUMAN			12	2021	+			610					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Frame_Shift_Del	DEL	ENST00000377369.2	37	c.1823delG	CCDS44362.1																																																																																				0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_152725		10:18292166
TMEM215	401498	broad.mit.edu	37	9	32784266	32784266	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:32784266G>A	ENST00000342743.5	+	2	450	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	29						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATGTTCACCGTCTCTGGGAT	0.582																																						ENST00000342743.5		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(85-87)Gtc>Atc		transmembrane protein 215							106.0	98.0	101.0					9																	32784266		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784266G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.85G>A	9.37:g.32784266G>A	ENSP00000345468:p.Val29Ile	False	False		Somatic	0					p.V29I	NM_212558.2	NP_997723.2	WXS	Illumina HiSeq	Phase_I	Q68D42	TM215_HUMAN			2	450	+			29					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.85G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343493	0.41498	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.31	4.39	0.52855	.	0.000000	0.64402	D	0.000011	T	0.40171	0.1106	L	0.27053	0.805	0.42899	D	0.994226	P	0.49635	0.926	B	0.40038	0.317	T	0.44847	-0.9301	9	0.87932	D	0	-24.8349	13.4943	0.61416	0.0:0.1582:0.8418:0.0	.	29	Q68D42	TM215_HUMAN	I	29	.	ENSP00000345468:V29I	V	+	1	0	TMEM215	32774266	1.000000	0.71417	0.869000	0.34112	0.936000	0.57629	7.480000	0.81109	1.185000	0.42971	0.462000	0.41574	GTC		0.582	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	0	NM_212558		9:32784266
MYO16	23026	broad.mit.edu	37	13	109859074	109859074	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:109859074G>A	ENST00000357550.2	+	34	5508	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1823K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCACCACGCTGAGCCCAGGGT	0.602																																						ENST00000356711.2		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(5467-5469)Gag>Aag		myosin XVI							61.0	57.0	58.0					13																	109859074		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109859074G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5467G>A	13.37:g.109859074G>A	ENSP00000350160:p.Glu1823Lys	False	False		Somatic	0				MYO16_ENST00000357550.2_Missense_Mutation_p.E1823K	p.E1823K	NM_015011.1	NP_055826.1	WXS	Illumina HiSeq	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		35	5593	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1823						Missense_Mutation	SNP	ENST00000357550.2	37	c.5467G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016418	0.54468	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.82344	-1.6;-1.6	4.34	4.34	0.51931	.	0.000000	0.40818	U	0.001003	D	0.84023	0.5381	L	0.53249	1.67	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	D	0.83751	0.0209	9	.	.	.	.	14.1841	0.65592	0.0:0.0:1.0:0.0	.	1823	Q9Y6X6	MYO16_HUMAN	K	1823	ENSP00000349145:E1823K;ENSP00000350160:E1823K	.	E	+	1	0	MYO16	108657075	1.000000	0.71417	0.914000	0.36105	0.088000	0.18126	6.105000	0.71505	2.248000	0.74166	0.563000	0.77884	GAG		0.602	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	0	NM_015011		13:109859074
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	rs374694060		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16316	0.0		0.0	False		,,,				2504	0.0					ENST00000329903.4		NA																	0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1447-1449)cGc>cAc		cyclic nucleotide gated channel alpha 2		G	HIS/ARG	5,3830		0,4,1,1628,570	131.0	112.0	118.0		1448	4.4	1.0	X		118	0,6728		0,0,0,2428,1872	no	missense	CNGA2	NM_005140.1	29	0,4,1,4056,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	probably-damaging	483/665	150912423	5,10558	2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912423G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1448G>A	X.37:g.150912423G>A	ENSP00000328478:p.Arg483His	False	False		Somatic	0					p.R483H	NM_005140.1	NP_005131.1	WXS	Illumina HiSeq	Phase_I	Q16280	CNGA2_HUMAN			6	1481	+	Acute lymphoblastic leukemia(192;6.56e-05)		483					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1448G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205767	0.58234	0.001304	0.0	ENSG00000183862	ENST00000329903	D	0.93247	-3.19	5.27	4.41	0.53225	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050712	0.85682	N	0.000000	D	0.95896	0.8664	M	0.74389	2.26	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.95498	0.8575	10	0.72032	D	0.01	.	10.9848	0.47516	0.0938:0.0:0.9062:0.0	.	483	Q16280	CNGA2_HUMAN	H	483	ENSP00000328478:R483H	ENSP00000328478:R483H	R	+	2	0	CNGA2	150663079	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.629000	0.83207	1.005000	0.39183	-0.260000	0.10688	CGC		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	0	NM_005140		X:150912423
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	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	179	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 -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578395
MIOX	55586	broad.mit.edu	37	22	50926164	50926164	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:50926164G>A	ENST00000216075.6	+	3	244	c.170G>A	c.(169-171)aGg>aAg	p.R57K	MIOX_ENST00000395732.3_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	57					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACTTCGTCAGGAGCAAGGTA	0.657																																						ENST00000395732.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13						c.(169-171)aGg>aAg		myo-inositol oxygenase							87.0	63.0	71.0					22																	50926164		2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50926164G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.170G>A	22.37:g.50926164G>A	ENSP00000216075:p.Arg57Lys	False	False		Somatic	0				MIOX_ENST00000216075.6_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K	p.R57K			WXS	Illumina HiSeq	Phase_I	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	192	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	57					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.170G>A	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	1.319	-0.599983	0.03744	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.38	1.07	0.20283	.	0.221539	0.46145	D	0.000306	T	0.08714	0.0216	N	0.05050	-0.12	0.23023	N	0.998415	B;B;B	0.26708	0.157;0.001;0.0	B;B;B	0.15484	0.013;0.003;0.002	T	0.31138	-0.9954	9	0.02654	T	1	-12.0146	3.2253	0.06730	0.3012:0.0:0.5132:0.1857	.	57;57;57	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	K	57;57;57;52	.	ENSP00000216075:R57K	R	+	2	0	MIOX	49273030	0.973000	0.33851	0.254000	0.24359	0.539000	0.34962	2.035000	0.41155	0.107000	0.17824	0.491000	0.48974	AGG		0.657	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	0	NM_017584		22:50926164
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	A	rs2271980		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:44055781C>A	ENST00000262887.5	-	10	1688	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors																														ENST00000262887.5		NA																	0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1141-1143)Gtg>Ttg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							90.0	83.0	85.0					19																	44055781		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44055781C>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1141G>T	19.37:g.44055781C>A	ENSP00000262887:p.Val381Leu	False	False		Somatic	0				XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L	p.V381L			WXS	Illumina HiSeq	Phase_I	P18887	XRCC1_HUMAN			10	1688	-		Prostate(69;0.0153)	381			BRCT 1.		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1141G>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907354	0.92107	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.82619	-1.63;-1.63	5.16	4.11	0.48088	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.72479	2.2	0.80722	D	1	B;D	0.69078	0.041;0.997	B;D	0.71656	0.028;0.974	D	0.89976	0.4097	10	0.56958	D	0.05	-22.7288	13.6093	0.62068	0.1567:0.8433:0.0:0.0	.	350;381	F5H8D7;P18887	.;XRCC1_HUMAN	L	395;381;350	ENSP00000262887:V381L;ENSP00000443671:V350L	ENSP00000262887:V381L	V	-	1	0	XRCC1	48747621	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	5.071000	0.64382	1.472000	0.48140	0.655000	0.94253	GTG		0.622	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	0	NM_006297		19:44055781
ASPG	374569	broad.mit.edu	37	14	104570767	104570767	+	Missense_Mutation	SNP	G	G	A	rs373529574		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:104570767G>A	ENST00000551177.1	+	8	972	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	294	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTGGTCATCGTCAACTGTAC	0.657																																						ENST00000551177.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(880-882)Gtc>Atc		asparaginase homolog (S. cerevisiae)		G	ILE/VAL	1,4279		0,1,2139	33.0	43.0	40.0		880	-0.3	0.9	14		40	0,8512		0,0,4256	no	missense	ASPG	NM_001080464.2	29	0,1,6395	AA,AG,GG		0.0,0.0234,0.0078	benign	294/574	104570767	1,12791	2140	4256	6396	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570767G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.880G>A	14.37:g.104570767G>A	ENSP00000450040:p.Val294Ile	False	False		Somatic	0				ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I	p.V294I	NM_001080464.2	NP_001073933.2	WXS	Illumina HiSeq	Phase_I	Q86U10	LPP60_HUMAN			8	972	+			294			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.880G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089554	0.20390	2.34E-4	0.0	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.32988	1.43;1.43;1.43	4.1	-0.315	0.12746	.	0.591503	0.16314	N	0.219861	T	0.17280	0.0415	L	0.40543	1.245	0.31470	N	0.668549	P;B;B;B	0.35542	0.508;0.097;0.303;0.239	B;B;B;B	0.28385	0.089;0.026;0.021;0.058	T	0.18840	-1.0324	10	0.27082	T	0.32	-10.5745	5.8295	0.18572	0.186:0.5239:0.2901:0.0	.	294;294;294;322	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	I	294;322;294;294	ENSP00000450040:V294I;ENSP00000448911:V294I;ENSP00000389003:V294I	ENSP00000299234:V322I	V	+	1	0	ASPG	103640520	0.000000	0.05858	0.875000	0.34327	0.497000	0.33675	-0.095000	0.11077	-0.132000	0.11557	0.462000	0.41574	GTC		0.657	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	0	NM_001080464		14:104570767
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	rs199993378		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368147.4		NA																	1	Substitution - Missense(1)	p.R2016H(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231.0	230.0	231.0		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592846C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His	False	False		Somatic	0					p.R2016H	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158592846
MAPKBP1	23005	broad.mit.edu	37	15	42109604	42109604	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:42109604G>A	ENST00000456763.2	+	16	1944	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R577H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGGCAAGTCCGCATGATCAGC	0.612																																						ENST00000457542.2		NA																	0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1729-1731)cGc>cAc		mitogen-activated protein kinase binding protein 1							93.0	76.0	81.0					15																	42109604		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109604G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1748G>A	15.37:g.42109604G>A	ENSP00000393099:p.Arg583His	False	False		Somatic	0				MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R583H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H	p.R577H	NM_014994.2	NP_055809.2	WXS	Illumina HiSeq	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	2016	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	583					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1730G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	32	5.110217	0.94292	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.43152	1.355	0.51767	D	0.99993	D;D;D;P;P	0.89917	1.0;0.999;1.0;0.92;0.892	D;D;D;P;P	0.79108	0.992;0.921;0.977;0.658;0.452	T	0.71705	-0.4512	10	0.59425	D	0.04	-17.6502	19.7785	0.96405	0.0:0.0:1.0:0.0	.	416;460;577;583;577	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	577;460;416;583;577	ENSP00000397570:R577H;ENSP00000221214:R460H;ENSP00000260357:R416H;ENSP00000393099:R583H;ENSP00000426154:R577H	ENSP00000221214:R460H	R	+	2	0	MAPKBP1	39896896	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.059000	0.89462	2.667000	0.90743	0.563000	0.77884	CGC		0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	0	NM_014994		15:42109604
FSD2	123722	broad.mit.edu	37	15	83438550	83438550	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:83438550T>C	ENST00000334574.8	-	8	1535	c.1354A>G	c.(1354-1356)Aac>Gac	p.N452D	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	452	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCAGCCCTGTTGTGAGCTGTG	0.478																																						ENST00000334574.8		NA																	0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(1354-1356)Aac>Gac		fibronectin type III and SPRY domain containing 2							95.0	94.0	94.0					15																	83438550		1856	4100	5956	SO:0001583	missense	123722							g.chr15:83438550T>C	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.1354A>G	15.37:g.83438550T>C	ENSP00000335651:p.Asn452Asp	False	False		Somatic	0				FSD2_ENST00000541889.1_Intron	p.N452D			WXS	Illumina HiSeq	Phase_I	A1L4K1	FSD2_HUMAN			8	1535	-			452			Fibronectin type-III 1.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.1354A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843035	0.91197	.	.	ENSG00000186628	ENST00000334574	T	0.61859	0.07	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78298	-0.2258	10	0.52906	T	0.07	-44.4125	15.3589	0.74453	0.0:0.0:0.0:1.0	.	452	A1L4K1	FSD2_HUMAN	D	452	ENSP00000335651:N452D	ENSP00000335651:N452D	N	-	1	0	FSD2	81235604	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.299000	0.78831	2.225000	0.72522	0.459000	0.35465	AAC		0.478	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	0	NM_001007122		15:83438550
SETD2	29072	broad.mit.edu	37	3	47098594	47098594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:47098594G>A	ENST00000409792.3	-	15	6722	c.6680C>T	c.(6679-6681)cCa>cTa	p.P2227L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2227	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCCACATGTGGCACCACTGG	0.552			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3		NA		Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6679-6681)cCa>cTa		SET domain containing 2							52.0	50.0	51.0					3																	47098594		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098594G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6680C>T	3.37:g.47098594G>A	ENSP00000386759:p.Pro2227Leu	False	False		Somatic	0					p.P2227L	NM_014159.6	NP_054878.5	WXS	Illumina HiSeq	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6722	-		Acute lymphoblastic leukemia(5;0.0169)	2227			Low charge region.|Pro-rich.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6680C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607273	0.46527	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.40476	1.03	5.1	4.16	0.48862	.	0.230823	0.30556	N	0.009361	T	0.21509	0.0518	N	0.08118	0	0.36605	D	0.874906	B;B	0.32245	0.361;0.361	B;B	0.27608	0.081;0.081	T	0.21280	-1.0250	10	0.46703	T	0.11	.	11.2548	0.49048	0.0:0.0:0.6575:0.3425	.	2227;2227	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	2227	ENSP00000386759:P2227L	ENSP00000386759:P2227L	P	-	2	0	SETD2	47073598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.205000	0.51090	2.814000	0.96858	0.655000	0.94253	CCA		0.552	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	0	NM_014159		3:47098594
LGR4	55366	broad.mit.edu	37	11	27390249	27390249	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:27390249G>A	ENST00000379214.4	-	18	2464	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	674					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCCTGCTACTGTAGCACCTAG	0.438																																						ENST00000379214.4		NA																	0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2020-2022)aCa>aTa		leucine-rich repeat containing G protein-coupled receptor 4							91.0	84.0	86.0					11																	27390249		2202	4298	6500	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390249G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2021C>T	11.37:g.27390249G>A	ENSP00000368516:p.Thr674Ile	False	False		Somatic	0				LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	p.T674I	NM_018490.2	NP_060960.2	WXS	Illumina HiSeq	Phase_I	Q9BXB1	LGR4_HUMAN			18	2464	-			674					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2021C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985958	0.00443	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.71103	-0.54;1.32	5.72	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.806293	0.11920	N	0.516808	T	0.45115	0.1326	N	0.03608	-0.345	0.26019	N	0.981899	B;B	0.15930	0.001;0.015	B;B	0.21917	0.004;0.037	T	0.31806	-0.9930	10	0.15952	T	0.53	.	8.7411	0.34558	0.3575:0.0:0.6425:0.0	.	650;674	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	674;650	ENSP00000368516:T674I;ENSP00000374508:T650I	ENSP00000368516:T674I	T	-	2	0	LGR4	27346825	0.499000	0.26083	0.001000	0.08648	0.565000	0.35776	2.094000	0.41719	0.359000	0.24239	-0.142000	0.14014	ACA		0.438	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	0	NM_018490		11:27390249
DGCR2	9993	broad.mit.edu	37	22	19050735	19050735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:19050735C>A	ENST00000263196.7	-	5	852	c.605G>T	c.(604-606)cGc>cTc	p.R202L	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.R199L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACCTCCCAGCGACCTTCCAA	0.587																																						ENST00000545799.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(595-597)cGc>cTc		DiGeorge syndrome critical region gene 2							116.0	90.0	99.0					22																	19050735		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19050735C>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.605G>T	22.37:g.19050735C>A	ENSP00000263196:p.Arg202Leu	False	False		Somatic	0				DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000263196.7_Missense_Mutation_p.R202L	p.R199L			WXS	Illumina HiSeq	Phase_I	P98153	IDD_HUMAN			5	796	-	Colorectal(54;0.0993)		202			C-type lectin.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.596G>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000644	0.54254	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.18960	2.18;2.18;2.18	5.66	-2.03	0.07365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.399207	0.32081	N	0.006611	T	0.16557	0.0398	L	0.35854	1.095	0.47341	D	0.999393	B;B	0.33826	0.427;0.196	B;B	0.36504	0.226;0.162	T	0.06303	-1.0834	10	0.62326	D	0.03	.	12.3598	0.55197	0.0:0.4555:0.0:0.5445	.	158;202	B7Z3T5;P98153	.;IDD_HUMAN	L	161;202;199;202	ENSP00000440062:R161L;ENSP00000263196:R202L;ENSP00000445069:R199L	ENSP00000263196:R202L	R	-	2	0	DGCR2	17430735	0.973000	0.33851	0.958000	0.39756	0.716000	0.41182	0.164000	0.16542	-0.258000	0.09446	-0.253000	0.11424	CGC		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	0	NM_005137		22:19050735
SYNPO2	171024	broad.mit.edu	37	4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488																																						ENST00000307142.4		NA																	0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3358-3360)Gat>Aat		synaptopodin 2							100.0	95.0	97.0					4																	119978661		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978661G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3358G>A	4.37:g.119978661G>A	ENSP00000306015:p.Asp1120Asn	True	False		Somatic	0				SYNPO2_ENST00000448416.2_Silent_p.P121P	p.D1120N	NM_133477.2	NP_597734.2	WXS	Illumina HiSeq	Phase_I	Q9UMS6	SYNP2_HUMAN			5	3554	+			774					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3358G>A	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.142|9.142	1.014167|1.014167	0.19277|0.19277	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142|ENST00000504178	T|.	0.07800|.	3.16|.	5.7|5.7	0.624|0.624	0.17659|0.17659	.|.	0.847324|.	0.09877|.	N|.	0.744219|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.29253|.	0.154;0.239|.	B;B|.	0.14023|.	0.006;0.01|.	T|T	0.21381|0.21381	-1.0247|-1.0247	9|5	.|.	.|.	.|.	-2.2565|-2.2565	1.0387|1.0387	0.01554|0.01554	0.1675:0.2459:0.2102:0.3763|0.1675:0.2459:0.2102:0.3763	.|.	1120;1120|.	B9EG60;Q9UMS6-2|.	.;.|.	N|Q	1120|1013	ENSP00000306015:D1120N|.	.|.	D|R	+|+	1|2	0|0	SYNPO2|SYNPO2	120198109|120198109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.357000|0.357000	0.20199|0.20199	0.051000|0.051000	0.15978|0.15978	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.488	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1	0			4:119978661
RNF220	55182	broad.mit.edu	37	1	44878230	44878230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:44878230G>A	ENST00000355387.2	+	2	911	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H			Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCCACTTGCGCTTCTCAGAT	0.537																																						ENST00000355387.2		NA																	0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(460-462)cGc>cAc		ring finger protein 220							92.0	87.0	89.0					1																	44878230		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878230G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.461G>A	1.37:g.44878230G>A	ENSP00000347548:p.Arg154His	False	False		Somatic	0				RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H	p.R154H			WXS	Illumina HiSeq	Phase_I	Q5VTB9	RN220_HUMAN			2	911	+			154					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.461G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405361	0.83230	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.114405	0.64402	N	0.000010	T	0.66867	0.2833	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70011	-0.4989	9	0.87932	D	0	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	154	Q5VTB9	RN220_HUMAN	H	154	.	ENSP00000347548:R154H	R	+	2	0	RNF220	44650817	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.684000	0.91462	0.655000	0.94253	CGC		0.537	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	0	NM_018150		1:44878230
APOB	338	broad.mit.edu	37	2	21234547	21234547	+	Silent	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:21234547G>T	ENST00000233242.1	-	26	5320	c.5193C>A	c.(5191-5193)gtC>gtA	p.V1731V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1731					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTTGACTGACCTTGAAGT	0.453																																						ENST00000233242.1		NA																	0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5191-5193)gtC>gtA		apolipoprotein B	Atorvastatin(DB01076)						222.0	209.0	213.0					2																	21234547		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234547G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5193C>A	2.37:g.21234547G>T		True	False		Somatic	0					p.V1731V	NM_000384.2	NP_000375	WXS	Illumina HiSeq	Phase_I	P04114	APOB_HUMAN			26	5320	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1731					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5193C>A	CCDS1703.1																																																																																				0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0			2:21234547
SNCB	6620	broad.mit.edu	37	5	176053513	176053513	+	Silent	SNP	A	A	G	rs111621148		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:176053513A>G	ENST00000310112.3	-	5	418	c.168T>C	c.(166-168)gcT>gcC	p.A56A	SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A|MIR4281_ENST00000580852.1_RNA	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	56	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTTTCAGCCACTGGAG	0.607																																						ENST00000310112.3		NA																	0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(166-168)gcT>gcC		synuclein, beta							69.0	62.0	64.0					5																	176053513		2203	4300	6503	SO:0001819	synonymous_variant	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053513A>G	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.168T>C	5.37:g.176053513A>G		False	False		Somatic	0				SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A	p.A56A	NM_001001502.1	NP_001001502.1	WXS	Illumina HiSeq	Phase_I	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	418	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	56			4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Silent	SNP	ENST00000310112.3	37	c.168T>C	CCDS4406.1																																																																																				0.607	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	0	NM_001001502		5:176053513
KRBA1	84626	broad.mit.edu	37	7	149421894	149421894	+	Silent	SNP	A	A	G			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:149421894A>G	ENST00000485033.2	+	8	1080	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G360G|KRBA1_ENST00000255992.10_Silent_p.G360G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	360										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCACTGGAGACACCAGAG	0.642																																						ENST00000255992.10		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(1078-1080)ggA>ggG		KRAB-A domain containing 1							16.0	20.0	18.0					7																	149421894		1914	4111	6025	SO:0001819	synonymous_variant	84626							g.chr7:149421894A>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1080A>G	7.37:g.149421894A>G		False	False		Somatic	0				KRBA1_ENST00000485033.2_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G360G	p.G360G	NM_032534.2	NP_115923.2	WXS	Illumina HiSeq	Phase_I	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		9	1479	+	Melanoma(164;0.165)|Ovarian(565;0.177)		360					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.1080A>G																																																																																					0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	NM_032534		7:149421894
TUBG1	7283	broad.mit.edu	37	17	40767013	40767013	+	Missense_Mutation	SNP	C	C	T	rs375839941		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:40767013C>T	ENST00000251413.3	+	11	1372	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	437					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GAGTACCATGCGGCCACACGG	0.577																																					Colon(20;114 698 11420 22864)	ENST00000251413.3		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1309-1311)gCg>gTg		tubulin, gamma 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	95.0		1310	5.0	1.0	17		95	0,8600		0,0,4300	no	missense	TUBG1	NM_001070.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	437/452	40767013	1,13005	2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40767013C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1310C>T	17.37:g.40767013C>T	ENSP00000251413:p.Ala437Val	False	False		Somatic	0					p.A437V	NM_001070.4	NP_001061.2	WXS	Illumina HiSeq	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1372	+		Breast(137;0.00116)	437					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1310C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912393	0.72983	2.27E-4	0.0	ENSG00000131462	ENST00000251413	D	0.84873	-1.91	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.83008	0.5161	M	0.82517	2.595	0.80722	D	1	P	0.46621	0.881	B	0.20184	0.028	D	0.87729	0.2578	10	0.72032	D	0.01	-12.5776	18.361	0.90374	0.0:1.0:0.0:0.0	.	437	P23258	TBG1_HUMAN	V	437	ENSP00000251413:A437V	ENSP00000251413:A437V	A	+	2	0	TUBG1	38020539	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	7.794000	0.85869	2.339000	0.79563	0.563000	0.77884	GCG		0.577	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	0	NM_001070		17:40767013
AMZ2	51321	broad.mit.edu	37	17	66251858	66251858	+	Silent	SNP	C	C	T	rs138911562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:66251858C>T	ENST00000359904.3	+	6	1900	c.768C>T	c.(766-768)atC>atT	p.I256I	AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	256							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCATGAGATCGGACACATAT	0.478																																						ENST00000359904.3		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(766-768)atC>atT		archaelysin family metallopeptidase 2		C	,,,,,	0,4406		0,0,2203	121.0	108.0	113.0		768,768,768,768,594,768	-6.7	0.8	17	dbSNP_134	113	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMZ2	NM_001033569.1,NM_001033570.1,NM_001033571.1,NM_001033572.1,NM_001033574.1,NM_016627.4	,,,,,	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,,,,,	256/361,256/361,256/361,256/361,198/303,256/361	66251858	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251858C>T	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.768C>T	17.37:g.66251858C>T		False	False		Somatic	0				AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I	p.I256I	NM_016627.4	NP_057711.3	WXS	Illumina HiSeq	Phase_I	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1900	+	all_cancers(12;1.12e-09)		256					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Silent	SNP	ENST00000359904.3	37	c.768C>T	CCDS11674.1																																																																																				0.478	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	0	NM_016627		17:66251858
KCNK10	54207	broad.mit.edu	37	14	88729828	88729828	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:88729828C>T	ENST00000340700.5	-	2	556	c.105G>A	c.(103-105)ccG>ccA	p.P35P	KCNK10_ENST00000312350.5_Silent_p.P40P|KCNK10_ENST00000319231.5_Silent_p.P40P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	35					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTCGGAGCCGGAGCCGGGG	0.642																																						ENST00000340700.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(103-105)ccG>ccA		potassium channel, subfamily K, member 10							52.0	58.0	56.0					14																	88729828		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729828C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.105G>A	14.37:g.88729828C>T		True	False		Somatic	0				KCNK10_ENST00000319231.5_Silent_p.P40P|KCNK10_ENST00000312350.5_Silent_p.P40P	p.P35P	NM_021161.4	NP_066984.1	WXS	Illumina HiSeq	Phase_I	P57789	KCNKA_HUMAN			2	556	-			35					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.105G>A	CCDS9880.1																																																																																				0.642	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	0	NM_021161		14:88729828
FTMT	94033	broad.mit.edu	37	5	121187809	121187809	+	Missense_Mutation	SNP	G	G	A	rs368526431		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:121187809G>A	ENST00000321339.1	+	1	160	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	51					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCCCTGGCCGCAGCCGCCTC	0.771																																						ENST00000321339.1		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(151-153)Gca>Aca		ferritin mitochondrial		G	THR/ALA	2,4064		0,2,2031	6.0	8.0	7.0		151	-6.9	0.0	5		7	0,7978		0,0,3989	no	missense	FTMT	NM_177478.1	58	0,2,6020	AA,AG,GG		0.0,0.0492,0.0166	benign	51/243	121187809	2,12042	2033	3989	6022	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187809G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.151G>A	5.37:g.121187809G>A	ENSP00000313691:p.Ala51Thr	False	False		Somatic	0					p.A51T	NM_177478.1	NP_803431.1	WXS	Illumina HiSeq	Phase_I	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	160	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	51						Missense_Mutation	SNP	ENST00000321339.1	37	c.151G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491220	0.26774	4.92E-4	0.0	ENSG00000181867	ENST00000321339	T	0.64618	-0.11	3.46	-6.93	0.01638	.	.	.	.	.	T	0.36963	0.0986	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.16276	-1.0408	9	0.20046	T	0.44	.	3.7474	0.08554	0.1643:0.0997:0.1353:0.6006	.	51	Q8N4E7	FTMT_HUMAN	T	51	ENSP00000313691:A51T	ENSP00000313691:A51T	A	+	1	0	FTMT	121215708	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.539000	0.06113	-1.953000	0.01026	0.650000	0.86243	GCA		0.771	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	0	NM_177478		5:121187809
LRP1	4035	broad.mit.edu	37	12	57598946	57598946	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:57598946G>A	ENST00000243077.3	+	73	11715	c.11249G>A	c.(11248-11250)cGg>cAg	p.R3750Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3750	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTCTGTGCCGGAACCAGCGC	0.637																																						ENST00000243077.3		NA																	0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11248-11250)cGg>cAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						93.0	87.0	89.0					12																	57598946		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598946G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11249G>A	12.37:g.57598946G>A	ENSP00000243077:p.Arg3750Gln	False	False		Somatic	0					p.R3750Q	NM_002332.2	NP_002323.2	WXS	Illumina HiSeq	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	73	11715	+			3750			LDL-receptor class A 31.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11249G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090216	0.36855	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	4.69	1.8	0.24995	Growth factor, receptor (1);	0.834326	0.10347	N	0.685604	D	0.84866	0.5567	N	0.04297	-0.235	0.42668	D	0.993508	B	0.15473	0.013	B	0.10450	0.005	T	0.73436	-0.3983	10	0.14656	T	0.56	.	3.2244	0.06726	0.2594:0.0:0.4241:0.3166	.	3750	Q07954	LRP1_HUMAN	Q	3750	ENSP00000243077:R3750Q	ENSP00000243077:R3750Q	R	+	2	0	LRP1	55885213	0.001000	0.12720	0.983000	0.44433	0.890000	0.51754	0.497000	0.22514	0.284000	0.22305	-0.136000	0.14681	CGG		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	NM_002332		12:57598946
SAGE1	55511	broad.mit.edu	37	X	134989524	134989524	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:134989524G>A	ENST00000370709.3	+	8	930	c.930G>A	c.(928-930)ccG>ccA	p.P310P	SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.P310P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	310						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGACCAACCGCAACCTAATA	0.408																																						ENST00000535938.1		NA																	0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(928-930)ccG>ccA		sarcoma antigen 1							160.0	130.0	140.0					X																	134989524		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134989524G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.930G>A	X.37:g.134989524G>A		False	False		Somatic	0				SAGE1_ENST00000370709.3_Silent_p.P310P|SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron	p.P310P	NM_018666.2	NP_061136.2	WXS	Illumina HiSeq	Phase_I	Q9NXZ1	SAGE1_HUMAN			9	1097	+	Acute lymphoblastic leukemia(192;0.000127)		310					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.930G>A	CCDS14652.1																																																																																				0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	0	NM_018666		X:134989524
CERCAM	51148	broad.mit.edu	37	9	131186737	131186737	+	Missense_Mutation	SNP	C	C	T	rs143495365		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:131186737C>T	ENST00000372838.4	+	5	1008	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R126C	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	204					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAACCGCCAGCGCCGGGGCTG	0.647																																						ENST00000372842.1		NA																	0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(376-378)Cgc>Tgc		cerebral endothelial cell adhesion molecule		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	65.0	64.0		610	4.9	1.0	9	dbSNP_134	64	0,8600		0,0,4300	no	missense	CERCAM	NM_016174.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	204/596	131186737	1,13005	2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186737C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.610C>T	9.37:g.131186737C>T	ENSP00000361929:p.Arg204Cys	False	False		Somatic	0				CERCAM_ENST00000372838.4_Missense_Mutation_p.R204C	p.R126C			WXS	Illumina HiSeq	Phase_I	Q5T4B2	GT253_HUMAN			6	3520	+			204					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.376C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	34	5.312852	0.95655	2.27E-4	0.0	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.20738	2.05;2.05;2.05	4.9	4.9	0.64082	.	0.119685	0.56097	D	0.000026	T	0.44540	0.1298	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	P	0.55455	0.776	T	0.52586	-0.8556	10	0.87932	D	0	-2.5648	16.8166	0.85735	0.0:1.0:0.0:0.0	.	204	Q5T4B2	GT253_HUMAN	C	126;126;204;157	ENSP00000361933:R126C;ENSP00000416676:R126C;ENSP00000361929:R204C	ENSP00000361929:R204C	R	+	1	0	CERCAM	130226558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.680000	0.54641	2.543000	0.85770	0.467000	0.42956	CGC		0.647	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	0	NM_016174		9:131186737
NAPG	8774	broad.mit.edu	37	18	10530778	10530778	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr18:10530778G>T	ENST00000322897.6	+	2	137	c.68G>T	c.(67-69)gGt>gTt	p.G23V	NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	23					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						CTGAAAACTGGTTTTTTAAAA	0.353																																						ENST00000322897.6		NA																	0				large_intestine(2)|lung(2)	4						c.(67-69)gGt>gTt		N-ethylmaleimide-sensitive factor attachment protein, gamma							127.0	121.0	123.0					18																	10530778		1825	4066	5891	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10530778G>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.68G>T	18.37:g.10530778G>T	ENSP00000324628:p.Gly23Val	True	False		Somatic	0				NAPG_ENST00000542979.1_Intron	p.G23V	NM_003826.2	NP_003817.1	WXS	Illumina HiSeq	Phase_I	Q99747	SNAG_HUMAN			2	137	+			23					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.68G>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697849	0.48307	.	.	ENSG00000134265	ENST00000322897	T	0.38240	1.15	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.139931	0.64402	D	0.000004	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	P	0.44429	0.835	P	0.44477	0.451	T	0.15464	-1.0436	10	0.66056	D	0.02	-4.1077	19.4084	0.94658	0.0:0.0:1.0:0.0	.	23	Q99747	SNAG_HUMAN	V	23	ENSP00000324628:G23V	ENSP00000324628:G23V	G	+	2	0	NAPG	10520778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.009000	0.93606	2.820000	0.97059	0.650000	0.86243	GGT		0.353	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	0	NM_003826		18:10530778
NXNL1	115861	broad.mit.edu	37	19	17571500	17571500	+	Missense_Mutation	SNP	C	C	T	rs371790764		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17571500C>T	ENST00000301944.2	-	1	263	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	60	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ATCTGTGAGCCGCACGAAGAA	0.612																																						ENST00000301944.2		NA																	0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(178-180)cGg>cAg		nucleoredoxin-like 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	73.0	74.0		179	1.6	0.9	19		74	0,8600		0,0,4300	no	missense	NXNL1	NM_138454.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	60/213	17571500	1,13005	2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571500C>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.179G>A	19.37:g.17571500C>T	ENSP00000305631:p.Arg60Gln	False	False		Somatic	0				CTD-2521M24.10_ENST00000594663.1_5'UTR	p.R60Q	NM_138454.1	NP_612463.1	WXS	Illumina HiSeq	Phase_I	Q96CM4	NXNL1_HUMAN			1	263	-			60			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.179G>A	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	c	10.87	1.472826	0.26423	2.27E-4	0.0	ENSG00000171773	ENST00000301944	T	0.80123	-1.34	3.92	1.63	0.23807	Thioredoxin-like fold (3);	0.201829	0.37012	N	0.002283	T	0.55353	0.1915	N	0.16708	0.43	0.29006	N	0.887146	P	0.49635	0.926	B	0.33339	0.162	T	0.55805	-0.8083	10	0.25106	T	0.35	-24.7216	7.195	0.25847	0.0:0.7457:0.0:0.2543	.	60	Q96CM4	NXNL1_HUMAN	Q	60	ENSP00000305631:R60Q	ENSP00000305631:R60Q	R	-	2	0	NXNL1	17432500	0.000000	0.05858	0.919000	0.36401	0.529000	0.34654	0.379000	0.20585	0.860000	0.35481	0.467000	0.42956	CGG		0.612	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	0	NM_138454		19:17571500
PCDHB5	26167	broad.mit.edu	37	5	140516870	140516870	+	Silent	SNP	G	G	A	rs568545778		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:140516870G>A	ENST00000231134.5	+	1	2071	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATGTGGGCGCACAATGGCG	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14938	0.0		0.0	False		,,,				2504	0.0					ENST00000231134.5		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1852-1854)gcG>gcA									49.0	52.0	51.0					5																	140516870		2178	4250	6428	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516870G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1854G>A	5.37:g.140516870G>A		False	False		Somatic	0					p.A618A	NM_015669.2	NP_056484.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2071	+			618			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1854G>A	CCDS4247.1																																																																																				0.687	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	NM_015669		5:140516870
LHCGR	3973	broad.mit.edu	37	2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368																																						ENST00000294954.7		NA																	0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1660-1662)cGa>cAa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						98.0	100.0	99.0					2																	48915275		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915275C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1661G>A	2.37:g.48915275C>T	ENSP00000294954:p.Arg554Gln	True	False		Somatic	0				LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|STON1-GTF2A1L_ENST00000402114.2_Intron	p.R554Q	NM_000233.3	NP_000224.2	WXS	Illumina HiSeq	Phase_I	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1682	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	554					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1661G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255868	0.22965	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.42131	0.98;0.98;0.98	5.68	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.241683	0.44285	N	0.000473	T	0.34861	0.0912	L	0.60904	1.88	0.27994	N	0.93555	B	0.14012	0.009	B	0.10450	0.005	T	0.22977	-1.0201	9	.	.	.	.	8.7189	0.34428	0.0:0.2173:0.0:0.7827	.	554	P22888	LSHR_HUMAN	Q	492;554;527	ENSP00000344301:R492Q;ENSP00000294954:R554Q;ENSP00000386033:R527Q	.	R	-	2	0	LHCGR	48768779	0.996000	0.38824	1.000000	0.80357	0.892000	0.51952	0.438000	0.21559	0.444000	0.26612	-1.273000	0.01405	CGA		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	0	NM_000233.3		2:48915275
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T	rs202233461		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20078	0.0		0.0	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000356545.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(436-438)gcG>gcA		R-spondin 1		C	,,,	1,3913		0,1,1956	46.0	49.0	48.0		438,438,357,	-1.3	1.0	1		48	0,8282		0,0,4141	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	,,,	0,1,6097	TT,TC,CC		0.0,0.0255,0.0082	,,,	146/264,146/264,119/237,	38079563	1,12195	1957	4141	6098	SO:0001630	splice_region_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079563C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>A	1.37:g.38079563C>T		False	False		Somatic	0				RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Splice_Site_p.A146A|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron	p.A146A	NM_001038633.3	NP_001033722.1	WXS	Illumina HiSeq	Phase_I	Q2MKA7	RSPO1_HUMAN			7	1225	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	146					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	37	c.438G>A	CCDS41304.1																																																																																				0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	0	NM_173640	Silent	1:38079563
SCD5	79966	broad.mit.edu	37	4	83719510	83719510	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:83719510C>T	ENST00000319540.4	-	1	500	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	SCD5_ENST00000282709.4_Missense_Mutation_p.V61M|SCD5_ENST00000273908.4_Missense_Mutation_p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	61					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGGGAGTACACGGCCCCCAAG	0.711																																						ENST00000319540.4		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(181-183)Gtg>Atg		stearoyl-CoA desaturase 5							52.0	45.0	47.0					4																	83719510		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83719510C>T	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.181G>A	4.37:g.83719510C>T	ENSP00000316329:p.Val61Met	False	False		Somatic	0				SCD5_ENST00000273908.4_Missense_Mutation_p.V61M|SCD5_ENST00000282709.4_Missense_Mutation_p.V61M	p.V61M	NM_001037582.2	NP_001032671.2	WXS	Illumina HiSeq	Phase_I	Q86SK9	SCD5_HUMAN			1	500	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	61					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.181G>A	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782740	0.70222	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.49432	0.78	4.77	0.537	0.17144	.	0.566432	0.17256	N	0.180944	T	0.56217	0.1970	L	0.51422	1.61	0.32879	D	0.510265	D;D;D	0.76494	0.999;0.998;0.963	D;D;P	0.65233	0.913;0.933;0.489	T	0.64859	-0.6308	10	0.72032	D	0.01	0.0619	10.0677	0.42315	0.1298:0.4496:0.4206:0.0	.	61;61;61	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	M	61	ENSP00000316329:V61M	ENSP00000273908:V61M	V	-	1	0	SCD5	83938534	0.797000	0.28877	0.996000	0.52242	0.989000	0.77384	0.069000	0.14552	0.158000	0.19367	0.542000	0.68232	GTG		0.711	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	0	NM_024906		4:83719510
HECW1	23072	broad.mit.edu	37	7	43484438	43484438	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:43484438C>T	ENST00000395891.2	+	11	2272	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	556					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCGAGACCCCGCGGACACAC	0.692																																						ENST00000395891.2		NA																	0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1666-1668)cCg>cTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							40.0	49.0	46.0					7																	43484438		2091	4214	6305	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484438C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1667C>T	7.37:g.43484438C>T	ENSP00000379228:p.Pro556Leu	True	False		Somatic	0				HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	p.P556L	NM_015052.3	NP_055867.3	WXS	Illumina HiSeq	Phase_I	Q76N89	HECW1_HUMAN			11	2272	+			NA					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1667C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948443	0.92593	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.53857	0.82;0.6	5.32	5.32	0.75619	.	0.268140	0.43747	D	0.000526	T	0.69797	0.3151	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66288	-0.5961	10	0.33141	T	0.24	.	19.0047	0.92846	0.0:1.0:0.0:0.0	.	556;556	B4DH42;Q76N89	.;HECW1_HUMAN	L	556	ENSP00000379228:P556L;ENSP00000407774:P556L	ENSP00000265522:P556L	P	+	2	0	HECW1	43450963	1.000000	0.71417	0.772000	0.31596	0.952000	0.60782	7.680000	0.84062	2.475000	0.83589	0.655000	0.94253	CCG		0.692	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	NM_015052		7:43484438
SGK223	157285	broad.mit.edu	37	8	8176529	8176529	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:8176529C>T	ENST00000520004.1	-	6	3620	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H			Q86YV5	SG223_HUMAN		1121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GAAGCACACGCGCCGCTCGTA	0.667																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1		NA																	0					NA						c.(3355-3357)cGc>cAc									84.0	94.0	90.0					8																	8176529		2103	4209	6312	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176529C>T																												ENST00000520004.1:c.3356G>A	8.37:g.8176529C>T	ENSP00000428054:p.Arg1119His	False	False		Somatic	0				SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H	p.R1119H			WXS	Illumina HiSeq	Phase_I	Q86YV5	SG223_HUMAN			6	3620	-			1119			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3356G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426873	0.83667	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.65178	-0.14;-0.14	5.48	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053692	0.85682	D	0.000000	T	0.68531	0.3011	L	0.36672	1.1	0.44042	D	0.996772	D	0.89917	1.0	D	0.91635	0.999	T	0.69339	-0.5171	10	0.66056	D	0.02	.	10.7678	0.46303	0.0:0.8505:0.0:0.1495	.	1119	Q86YV5	SG223_HUMAN	H	1119	ENSP00000330930:R1119H;ENSP00000428054:R1119H	ENSP00000330930:R1119H	R	-	2	0	AC068353.1	8213939	0.883000	0.30277	1.000000	0.80357	0.979000	0.70002	1.757000	0.38400	2.750000	0.94351	0.467000	0.42956	CGC		0.667	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	0			8:8176529
CUBN	8029	broad.mit.edu	37	10	16982060	16982060	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:16982060C>T	ENST00000377833.4	-	37	5584	c.5519G>A	c.(5518-5520)gGc>gAc	p.G1840D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1840	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.		G -> S (in dbSNP:rs2271462).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCCCGTGCCGCTGCCAGA	0.413																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5518-5520)gGc>gAc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						143.0	157.0	152.0					10																	16982060		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982060C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5519G>A	10.37:g.16982060C>T	ENSP00000367064:p.Gly1840Asp	False	False		Somatic	0					p.G1840D	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			37	5584	-			1840		G -> S (in dbSNP:rs2271462).	CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5519G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	5.381	0.255505	0.10185	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	6.16	2.85	0.33270	CUB (5);	0.284524	0.25305	N	0.031636	T	0.12902	0.0313	L	0.28400	0.85	0.80722	D	1	B	0.27013	0.166	B	0.32289	0.143	T	0.10683	-1.0619	10	0.30854	T	0.27	.	9.5798	0.39481	0.0:0.6956:0.1232:0.1812	.	1840	O60494	CUBN_HUMAN	D	1840	ENSP00000367064:G1840D	ENSP00000367064:G1840D	G	-	2	0	CUBN	17022066	0.000000	0.05858	0.051000	0.19133	0.016000	0.09150	0.060000	0.14342	0.907000	0.36646	0.650000	0.86243	GGC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:16982060
VSTM4	196740	broad.mit.edu	37	10	50256523	50256523	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:50256523C>T	ENST00000332853.4	-	6	798	c.775G>A	c.(775-777)Gct>Act	p.A259T		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTCCTTACCTTTGGCAGGG	0.542																																						ENST00000332853.4		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(775-777)Gct>Act		V-set and transmembrane domain containing 4							97.0	85.0	89.0					10																	50256523		2203	4300	6503	SO:0001630	splice_region_variant	196740					integral to membrane|plasma membrane		g.chr10:50256523C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.775+1G>A	10.37:g.50256523C>T		True	False		Somatic	0					p.A259T	NM_001031746.3	NP_001026916.2	WXS	Illumina HiSeq	Phase_I	Q8IW00	CJ072_HUMAN			6	798	-			NA					B4DNI6|Q96MX7	Splice_Site	SNP	ENST00000332853.4	37	c.775G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178075	0.94846	.	.	ENSG00000165633	ENST00000332853	T	0.10288	2.89	6.17	6.17	0.99709	.	0.291440	0.37136	N	0.002221	T	0.09423	0.0232	L	0.34521	1.04	0.80722	D	1	P	0.37525	0.598	B	0.32211	0.142	T	0.24764	-1.0151	9	.	.	.	-8.1983	16.3795	0.83443	0.0:1.0:0.0:0.0	.	259	Q8IW00	VSTM4_HUMAN	T	259	ENSP00000331062:A259T	.	A	-	1	0	VSTM4	49926529	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.440000	0.59975	2.941000	0.99782	0.655000	0.94253	GCT		0.542	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	0	NM_144984	Missense_Mutation	10:50256523
RPL12	6136	broad.mit.edu	37	9	130213570	130213570	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:130213570C>A	ENST00000361436.5	-	1	114	c.27G>T	c.(25-27)gaG>gaT	p.E9D	LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000373324.4_5'Flank|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGACTTTGATCTCGTTGGGGT	0.642																																						ENST00000361436.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(25-27)gaG>gaT		ribosomal protein L12							33.0	37.0	36.0					9																	130213570		2200	4295	6495	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130213570C>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.27G>T	9.37:g.130213570C>A	ENSP00000354739:p.Glu9Asp	False	False		Somatic	0				RPL12_ENST00000536368.1_Missense_Mutation_p.E9D|RPL12_ENST00000497322.1_5'UTR	p.E9D	NM_000976.3	NP_000967.1	WXS	Illumina HiSeq	Phase_I	P30050	RL12_HUMAN			1	114	-			9					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.27G>T	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697336	0.68386	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	1.42	0.22433	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.61515	0.2353	M	0.80508	2.5	0.45318	D	0.998318	B;B	0.17038	0.02;0.002	B;B	0.25987	0.065;0.006	T	0.58364	-0.7649	9	0.51188	T	0.08	0.0134	8.795	0.34874	0.0:0.652:0.0:0.348	.	9;9	P30050-2;P30050	.;RL12_HUMAN	D	9	.	ENSP00000354739:E9D	E	-	3	2	RPL12	129253391	0.929000	0.31497	0.998000	0.56505	0.998000	0.95712	0.418000	0.21230	0.247000	0.21414	0.561000	0.74099	GAG		0.642	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1	0			9:130213570
MAP4K4	9448	broad.mit.edu	37	2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T	rs545368433		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:102486181C>T	ENST00000347699.4	+	20	2318	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000413150.2_Missense_Mutation_p.T688M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	773					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGTCGGGGACGACGGATGAG	0.582																																						ENST00000413150.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2062-2064)aCg>aTg		mitogen-activated protein kinase kinase kinase kinase 4							37.0	41.0	40.0					2																	102486181		2055	4196	6251	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102486181C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2318C>T	2.37:g.102486181C>T	ENSP00000314363:p.Thr773Met	False	False		Somatic	0				MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T773M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M	p.T688M	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	WXS	Illumina HiSeq	Phase_I	O95819	M4K4_HUMAN			19	2118	+			773					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.2063C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394360	0.83011	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.47716	1.5	0.48632	D	0.999681	D;D;P;D;D;D;D;D;D;D	0.89917	0.998;0.996;0.573;0.996;0.998;1.0;1.0;0.998;1.0;0.998	P;P;B;P;P;D;D;P;D;D	0.81914	0.858;0.764;0.051;0.764;0.881;0.98;0.995;0.881;0.956;0.938	D	0.86374	0.1725	10	0.66056	D	0.02	.	18.7238	0.91705	0.0:1.0:0.0:0.0	.	749;769;572;576;691;773;742;692;745;854	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	M	742;854;692;576;688;572;773;704;749	ENSP00000392830:T742M;ENSP00000313644:T854M;ENSP00000281111:T692M;ENSP00000303600:T576M;ENSP00000389752:T688M;ENSP00000387370:T572M;ENSP00000314363:T773M;ENSP00000409720:T704M;ENSP00000343658:T749M	ENSP00000303600:T576M	T	+	2	0	MAP4K4	101852613	1.000000	0.71417	0.957000	0.39632	0.950000	0.60333	4.574000	0.60900	2.420000	0.82092	0.563000	0.77884	ACG		0.582	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	0	NM_004834		2:102486181
RDM1	201299	broad.mit.edu	37	17	34257116	34257116	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:34257116G>A	ENST00000293273.6	-	2	285	c.240C>T	c.(238-240)tgC>tgT	p.C80C	RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000430160.2_Silent_p.C57C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000394529.3_Silent_p.C57C	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	80	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCCGGTCGCATGCCTTTT	0.483								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3		NA																	0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(169-171)tgC>tgT	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							110.0	121.0	117.0					17																	34257116		2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34257116G>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.240C>T	17.37:g.34257116G>A		False	False		Somatic	0				RDM1_ENST00000293273.6_Silent_p.C80C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000430160.2_Silent_p.C57C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C	p.C57C	NM_001163130.1	NP_001156602.1	WXS	Illumina HiSeq	Phase_I	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	1	657	-		Ovarian(249;0.17)	80			Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.171C>T	CCDS11301.1																																																																																				0.483	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	0	NM_145654		17:34257116
BAI2	576	broad.mit.edu	37	1	32196581	32196581	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:32196581G>A	ENST00000373658.3	-	29	4541	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000373655.2_Silent_p.S1400S|BAI2_ENST00000398542.1_Silent_p.S1300S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1400					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGGTCCACGGACAGGAAGC	0.692																																						ENST00000373658.3		NA																	0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4198-4200)tcC>tcT		brain-specific angiogenesis inhibitor 2							25.0	33.0	30.0					1																	32196581		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196581G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4200C>T	1.37:g.32196581G>A		False	False		Somatic	0				BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000373655.2_Silent_p.S1400S	p.S1400S	NM_001703.2	NP_001694.2	WXS	Illumina HiSeq	Phase_I	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4541	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1400					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4200C>T	CCDS346.2																																																																																				0.692	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	0	NM_001703		1:32196581
TTN	7273	broad.mit.edu	37	2	179444687	179444687	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:179444687G>A	ENST00000591111.1	-	268	62628	c.62404C>T	c.(62404-62406)Cgt>Tgt	p.R20802C	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000589042.1_Missense_Mutation_p.R22443C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20802	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCACGAGTTTCACCG	0.413																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67327-67329)Cgt>Tgt		titin							127.0	120.0	122.0					2																	179444687		1920	4132	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444687G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62404C>T	2.37:g.179444687G>A	ENSP00000465570:p.Arg20802Cys	False	False		Somatic	0				TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20802C	p.R22443C	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		318	67551	-			20802			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67327C>T		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448776	0.26074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.1	5.1	0.69264	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41511	0.1162	N	0.04880	-0.145	0.45354	D	0.998348	D;D;D;D	0.69078	0.99;0.99;0.99;0.997	P;P;P;P	0.47299	0.543;0.543;0.543;0.543	T	0.55648	-0.8108	9	0.87932	D	0	.	18.8515	0.92232	0.0:0.0:1.0:0.0	.	13378;13503;13570;20802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19875;13378;13570;13503;13376	ENSP00000343764:R19875C;ENSP00000434586:R13378C;ENSP00000340554:R13570C;ENSP00000352154:R13503C	ENSP00000340554:R13570C	R	-	1	0	TTN	179152933	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	3.412000	0.52679	2.525000	0.85131	0.313000	0.20887	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179444687
ALX4	60529	broad.mit.edu	37	11	44296947	44296947	+	Missense_Mutation	SNP	G	G	A	rs145166164	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:44296947G>A	ENST00000329255.3	-	2	831	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	243					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A243E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTCCCGCGCATACACGTC	0.617																																						ENST00000329255.3		NA																	1	Substitution - Missense(1)	p.A243E(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(727-729)gCg>gTg		ALX homeobox 4		G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	100.0	99.0	99.0		728	3.7	0.9	11	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ALX4	NM_021926.3	64	0,5,6497	AA,AG,GG		0.0116,0.0908,0.0384	benign	243/412	44296947	5,12999	2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44296947G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.728C>T	11.37:g.44296947G>A	ENSP00000332744:p.Ala243Val	False	False		Somatic	0					p.A243V	NM_021926.3	NP_068745.2	WXS	Illumina HiSeq	Phase_I	Q9H161	ALX4_HUMAN			2	831	-			243					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.728C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111519	0.37242	9.08E-4	1.16E-4	ENSG00000052850	ENST00000329255	D	0.95656	-3.77	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.119737	0.56097	D	0.000031	D	0.90324	0.6973	N	0.20685	0.6	0.80722	D	1	B	0.32717	0.381	B	0.33392	0.163	D	0.88558	0.3121	10	0.23302	T	0.38	.	15.7255	0.77756	0.0:0.0:1.0:0.0	.	243	Q9H161	ALX4_HUMAN	V	243	ENSP00000332744:A243V	ENSP00000332744:A243V	A	-	2	0	ALX4	44253523	1.000000	0.71417	0.907000	0.35723	0.183000	0.23260	9.620000	0.98373	1.929000	0.55896	0.455000	0.32223	GCG		0.617	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1	0			11:44296947
ATG2B	55102	broad.mit.edu	37	14	96779761	96779761	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:96779761G>T	ENST00000359933.4	-	24	4547	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1218					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAATATTCAAGAAGTATAAAA	0.303																																						ENST00000359933.4		NA																	0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3652-3654)ttC>ttA		autophagy related 2B							43.0	44.0	44.0					14																	96779761		2203	4292	6495	SO:0001583	missense	55102							g.chr14:96779761G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3654C>A	14.37:g.96779761G>T	ENSP00000353010:p.Phe1218Leu	False	False		Somatic	0					p.F1218L	NM_018036.5	NP_060506	WXS	Illumina HiSeq	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	24	4547	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1218					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3654C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122650	0.77436	.	.	ENSG00000066739	ENST00000359933	T	0.11169	2.8	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	M	0.71036	2.16	0.58432	D	0.999994	D	0.69078	0.997	D	0.70716	0.97	T	0.01587	-1.1318	10	0.40728	T	0.16	.	7.5215	0.27631	0.2796:0.0:0.7204:0.0	.	1218	Q96BY7	ATG2B_HUMAN	L	1218	ENSP00000353010:F1218L	ENSP00000353010:F1218L	F	-	3	2	ATG2B	95849514	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.278000	0.51662	1.394000	0.46624	0.655000	0.94253	TTC		0.303	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	0	NM_018036		14:96779761
C10orf105	414152	broad.mit.edu	37	10	73485201	73485201	+	Intron	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:73485201G>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.R1173Q	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											CCCCTGGACCGGGAGCGGAAC	0.652																																						ENST00000224721.6		NA																	0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3517-3519)cGg>cAg		cadherin-related 23							52.0	58.0	56.0					10																	73485201		2009	4161	6170	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73485201G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-9102C>T	10.37:g.73485201G>A		True	False		Somatic	0				C10orf105_ENST00000398786.2_Intron	p.R1173Q	NM_022124.5	NP_071407.4	WXS	Illumina HiSeq	Phase_I	Q9H251	CAD23_HUMAN			29	3523	+			1168			Cadherin 11.			Missense_Mutation	SNP	ENST00000398786.2	37	c.3518G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694989	0.96793	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.86768	0.6012	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.89619	0.3847	9	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	1168;1168	Q6P152;Q9H251	.;CAD23_HUMAN	Q	1173;1168;1171	.	ENSP00000224721:R1173Q	R	+	2	0	CDH23	73155207	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	9.313000	0.96297	2.389000	0.81357	0.655000	0.94253	CGG		0.652	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	0	NM_001164375		10:73485201
WDR62	284403	broad.mit.edu	37	19	36572414	36572414	+	Missense_Mutation	SNP	G	G	T	rs387907082		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36572414G>T	ENST00000270301.7	+	10	1313	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	WDR62_ENST00000401500.2_Missense_Mutation_p.R438L|WDR62_ENST00000388999.3_Missense_Mutation_p.R438L			O43379	WDR62_HUMAN	WD repeat domain 62	438			R -> H (in MCPH2; the mutant protein does not localize to the spindle pole during mitosis). {ECO:0000269|PubMed:20890279}.		cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCATTCGCTTCTGGAAC	0.463																																						ENST00000401500.2		NA																	0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1312-1314)cGc>cTc		WD repeat domain 62							190.0	171.0	177.0					19																	36572414		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36572414G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1313G>T	19.37:g.36572414G>T	ENSP00000270301:p.Arg438Leu	False	False		Somatic	0				WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000270301.7_Missense_Mutation_p.R438L	p.R438L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	WXS	Illumina HiSeq	Phase_I	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1348	+	Esophageal squamous(110;0.162)		438					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1313G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246220	0.95272	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000270301	T;T;T	0.67698	-0.28;-0.28;-0.28	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (2);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87579	0.2483	10	0.87932	D	0	-37.3853	16.3039	0.82841	0.0:0.0:1.0:0.0	.	438;438	O43379-4;O43379	.;WDR62_HUMAN	L	438	ENSP00000384792:R438L;ENSP00000373651:R438L;ENSP00000270301:R438L	ENSP00000270301:R438L	R	+	2	0	WDR62	41264254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.462000	0.83206	0.655000	0.94253	CGC		0.463	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	0	NM_015671		19:36572414
PDXDC2P	283970	broad.mit.edu	37	16	70030060	70030060	+	RNA	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:70030060T>C	ENST00000531894.1	-	0	1716					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										GGACAGGAACTGTGGGGTCAG	0.502																																						ENST00000531894.1		NA																	0					NA																																														0							g.chr16:70030060T>C			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70030060T>C		False	False		Somatic	0						NR_003610.1		WXS	Illumina HiSeq	Phase_I					0	1716	-			NA					A8K9Z5	RNA	SNP	ENST00000531894.1	37			.	.	.	.	.	.	.	.	.	.	t	10.44	1.350422	0.24512	.	.	ENSG00000226232	ENST00000532298	T	0.17854	2.25	0.599	0.599	0.17519	.	.	.	.	.	T	0.23572	0.0570	.	.	.	.	.	.	.	.	.	.	.	.	T	0.37709	-0.9694	4	0.87932	D	0	.	.	.	.	.	.	.	.	R	11	ENSP00000448651:Q11R	ENSP00000448651:Q11R	Q	-	2	0	RP11-419C5.2	68587561	0.007000	0.16637	0.003000	0.11579	0.694000	0.40290	-0.576000	0.05854	0.534000	0.28695	0.225000	0.17782	CAG		0.502	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1	0			16:70030060
RREB1	6239	broad.mit.edu	37	6	7229269	7229269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229269C>T	ENST00000349384.6	+	10	1251	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	313					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CATCAGCGAGCAACACCGTTT	0.522																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(937-939)Caa>Taa		ras responsive element binding protein 1							83.0	64.0	71.0					6																	7229269		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229269C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.937C>T	6.37:g.7229269C>T	ENSP00000305560:p.Gln313*	False	False		Somatic	0				RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*	p.Q313*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			10	1474	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	313					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.937C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	38	6.868490	0.97897	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.71	4.74	0.60224	.	0.453195	0.18047	N	0.153432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-45.1168	3.769	0.08635	0.0:0.664:0.0:0.336	.	.	.	.	X	313	.	ENSP00000335574:Q313X	Q	+	1	0	RREB1	7174268	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.726000	0.68515	2.701000	0.92244	0.462000	0.41574	CAA		0.522	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7229269
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	rs147603617		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592																																						ENST00000409235.3		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2899-2901)Gaa>Aaa		catsper channel auxiliary subunit gamma		G	LYS/GLU	0,4406		0,0,2203	221.0	233.0	229.0		2899	3.9	0.8	19	dbSNP_134	229	1,8599	1.2+/-3.3	0,1,4299	no	missense	CATSPERG	NM_021185.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	967/1160	38858385	1,13005	2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858385G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2899G>A	19.37:g.38858385G>A	ENSP00000386962:p.Glu967Lys	True	False		Somatic	0				CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	p.E967K	NM_021185.4	NP_067008.3	WXS	Illumina HiSeq	Phase_I	Q6ZRH7	CTSRG_HUMAN			25	3014	+			967					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2899G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811016	0.50421	0.0	1.16E-4	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.57273	0.41;0.41	3.93	3.93	0.45458	.	0.165988	0.28214	N	0.016180	T	0.47857	0.1468	L	0.29908	0.895	0.80722	D	1	D;P	0.60160	0.987;0.876	P;B	0.50162	0.633;0.176	T	0.52593	-0.8555	10	0.72032	D	0.01	-10.9001	11.3115	0.49366	0.0:0.0:1.0:0.0	.	967;927	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	927;967;967	ENSP00000387057:E927K;ENSP00000386962:E967K	ENSP00000386962:E967K	E	+	1	0	CATSPERG	43550225	0.982000	0.34865	0.772000	0.31596	0.164000	0.22412	2.970000	0.49240	2.002000	0.58637	0.484000	0.47621	GAA		0.592	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	0	NM_021185		19:38858385
PTGER2	5732	broad.mit.edu	37	14	52781689	52781689	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:52781689C>T	ENST00000245457.5	+	1	577	c.423C>T	c.(421-423)ccC>ccT	p.P141P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCGGGCACCCCTACTTCTACC	0.642																																						ENST00000245457.5		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(421-423)ccC>ccT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						58.0	61.0	60.0					14																	52781689		2201	4299	6500	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781689C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.423C>T	14.37:g.52781689C>T		True	False		Somatic	0				PTGER2_ENST00000557436.1_Intron	p.P141P	NM_000956.3	NP_000947.2	WXS	Illumina HiSeq	Phase_I	P43116	PE2R2_HUMAN			1	577	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		141					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.423C>T	CCDS9708.1																																																																																				0.642	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1	0			14:52781689
ACSL4	2182	broad.mit.edu	37	X	108924283	108924283	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:108924283C>T	ENST00000469796.2	-	6	1118	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACSL4_ENST00000340800.2_Missense_Mutation_p.G241E|ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	241					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AATCTCAAATCCTTCAGGGTA	0.343																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(721-723)gGa>gAa		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						131.0	118.0	122.0					X																	108924283		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108924283C>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.722G>A	X.37:g.108924283C>T	ENSP00000419171:p.Gly241Glu	False	False		Somatic	0				ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000469796.2_Missense_Mutation_p.G241E	p.G241E	NM_022977.2	NP_075266.1	WXS	Illumina HiSeq	Phase_I	O60488	ACSL4_HUMAN			7	1226	-			241					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.722G>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050788	0.75960	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.38560	1.13;1.13;1.13	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.257801	0.44097	D	0.000485	T	0.57666	0.2069	M	0.78223	2.4	0.58432	D	0.999997	P	0.35575	0.51	P	0.47705	0.555	T	0.61013	-0.7148	10	0.72032	D	0.01	-15.5815	13.0039	0.58692	0.0:0.9159:0.0:0.0841	.	241	O60488	ACSL4_HUMAN	E	200;241;241	ENSP00000262835:G200E;ENSP00000419171:G241E;ENSP00000339787:G241E	ENSP00000339787:G241E	G	-	2	0	ACSL4	108810939	0.998000	0.40836	1.000000	0.80357	0.665000	0.39181	3.776000	0.55356	2.555000	0.86185	0.513000	0.50165	GGA		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	0	NM_004458		X:108924283
CSMD1	64478	broad.mit.edu	37	8	4494899	4494899	+	Silent	SNP	G	G	A	rs375942865		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:4494899G>A	ENST00000520002.1	-	2	822	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000602557.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTCCATCGTAAACTGATA	0.378																																						ENST00000602557.1		NA																	0				breast(20)|large_intestine(5)	25						c.(265-267)taC>taT		CUB and Sushi multiple domains 1		G		1,3763		0,1,1881	115.0	116.0	116.0		267	-7.2	0.0	8		116	0,8242		0,0,4121	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6002	AA,AG,GG		0.0,0.0266,0.0083		89/3565	4494899	1,12005	1882	4121	6003	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4494899G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.267C>T	8.37:g.4494899G>A		False	False		Somatic	0				CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000520002.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y	p.Y89Y			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	822	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	89			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.267C>T																																																																																					0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:4494899
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	rs370258691		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177.0	179.0	179.0		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val	False	False		Somatic	0				ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V	p.A445V			WXS	Illumina HiSeq	Phase_I	O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	NM_014861		16:84476138
MTUS2	23281	broad.mit.edu	37	13	29599068	29599068	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:29599068T>A	ENST00000431530.3	+	1	321	c.263T>A	c.(262-264)tTt>tAt	p.F88Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	78						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATAAGGAATTTCACCAACTT	0.453																																						ENST00000431530.3		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(262-264)tTt>tAt		microtubule associated tumor suppressor candidate 2							35.0	34.0	34.0					13																	29599068		1827	4077	5904	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599068T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.263T>A	13.37:g.29599068T>A	ENSP00000392057:p.Phe88Tyr	True	False		Somatic	0					p.F88Y	NM_001033602.2	NP_001028774.2	WXS	Illumina HiSeq	Phase_I	Q5JR59	MTUS2_HUMAN			1	321	+			78					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.263T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	8.487	0.861180	0.17178	.	.	ENSG00000132938	ENST00000431530	T	0.12672	2.66	5.37	-0.252	0.12999	.	0.731038	0.11928	N	0.515982	T	0.08179	0.0204	L	0.36672	1.1	0.09310	N	1	P	0.34757	0.467	B	0.34138	0.176	T	0.29058	-1.0024	9	.	.	.	.	0.7446	0.00980	0.2493:0.3104:0.1316:0.3087	.	78	Q5JR59	MTUS2_HUMAN	Y	88	ENSP00000392057:F88Y	.	F	+	2	0	MTUS2	28497068	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.521000	0.22893	-0.033000	0.13736	-0.418000	0.06021	TTT		0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	0	XM_166270		13:29599068
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CACTGAGCAACAACTGCCATG	0.488																																						ENST00000526016.1		NA																	0					NA																																														0							g.chr11:55065601C>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065601C>G		False	False		Somatic	0						NR_038174.2		WXS	Illumina HiSeq	Phase_I					0	107	-			NA						RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1	0			11:55065601
MPG	4350	broad.mit.edu	37	16	133094	133094	+	Missense_Mutation	SNP	G	G	A	rs202188306		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:133094G>A	ENST00000219431.4	+	4	590	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_ENST00000397817.1_Missense_Mutation_p.R103H|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	120			R -> C (in dbSNP:rs2308313).		base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		17831	0.0		0.001	False		,,,				2504	0.0					ENST00000219431.4		NA																	0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(358-360)cGc>cAc	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							113.0	119.0	117.0					16																	133094		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133094G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.359G>A	16.37:g.133094G>A	ENSP00000219431:p.Arg120His	False	False		Somatic	0				MPG_ENST00000397817.1_Missense_Mutation_p.R103H	p.R120H	NM_002434.3	NP_002425.2	WXS	Illumina HiSeq	Phase_I	P29372	3MG_HUMAN			4	590	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	120		R -> C (in dbSNP:rs2308313).			G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.359G>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473052	0.63737	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.88	4.88	0.63580	Formyl transferase, C-terminal-like (1);	0.101722	0.64402	D	0.000004	T	0.59636	0.2208	H	0.95114	3.625	0.46981	D	0.999276	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.974;0.979;0.974	T	0.73366	-0.4005	10	0.72032	D	0.01	-15.6548	17.1905	0.86878	0.0:0.0:1.0:0.0	.	103;115;120	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	H	103;103;115;120	ENSP00000388097:R103H;ENSP00000380918:R103H;ENSP00000348809:R115H;ENSP00000219431:R120H	ENSP00000219431:R120H	R	+	2	0	MPG	73094	1.000000	0.71417	0.967000	0.41034	0.487000	0.33371	4.328000	0.59253	2.529000	0.85273	0.462000	0.41574	CGC		0.637	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4	0			16:133094
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	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
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4		NA																	0					NA						c.(1081-1083)caG>caA		zinc finger protein 254							57.0	58.0	58.0					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A		False	False		Somatic	0				ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina HiSeq	Phase_I	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	0	NM_004876		19:24309885
FAT2	2196	broad.mit.edu	37	5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCATGACCGTAAAGCTGTA	0.587																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4069-4071)aCg>aTg		FAT atypical cadherin 2							110.0	95.0	100.0					5																	150932824		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932824G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4070C>T	5.37:g.150932824G>A	ENSP00000261800:p.Thr1357Met	False	False		Somatic	0					p.T1357M	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4082	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1357			Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4070C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942923	0.73672	.	.	ENSG00000086570	ENST00000261800	T	0.54071	0.59	5.38	4.47	0.54385	Cadherin (3);Cadherin-like (1);	0.325213	0.25762	N	0.028464	T	0.63343	0.2503	M	0.74881	2.28	0.09310	N	0.999997	D	0.63880	0.993	P	0.55055	0.767	T	0.59257	-0.7488	10	0.66056	D	0.02	.	10.3587	0.43980	0.0:0.1453:0.704:0.1507	.	1357	Q9NYQ8	FAT2_HUMAN	M	1357	ENSP00000261800:T1357M	ENSP00000261800:T1357M	T	-	2	0	FAT2	150913017	0.967000	0.33354	0.795000	0.32087	0.986000	0.74619	5.130000	0.64745	2.524000	0.85096	0.561000	0.74099	ACG		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150932824
UHRF1BP1L	23074	broad.mit.edu	37	12	100466468	100466468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:100466468C>T	ENST00000279907.7	-	12	1743	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	511										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCCTTTCCATCTGGATAGTAA	0.274																																						ENST00000279907.7		NA																	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1531-1533)Gat>Aat		UHRF1 binding protein 1-like							59.0	67.0	64.0					12																	100466468		2201	4298	6499	SO:0001583	missense	23074							g.chr12:100466468C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1531G>A	12.37:g.100466468C>T	ENSP00000279907:p.Asp511Asn	False	False		Somatic	0				UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N	p.D511N	NM_015054.1	NP_055869.1	WXS	Illumina HiSeq	Phase_I	A0JNW5	UH1BL_HUMAN			12	1743	-			511					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1531G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308215	0.95629	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045	T;T;T	0.38077	2.71;2.67;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.985	T	0.65240	-0.6216	10	0.72032	D	0.01	-21.0396	19.7072	0.96079	0.0:1.0:0.0:0.0	.	511;511	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	N	511;161;511;100	ENSP00000279907:D511N;ENSP00000444824:D161N;ENSP00000349285:D511N	ENSP00000279907:D511N	D	-	1	0	UHRF1BP1L	98990599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.662000	0.90505	0.591000	0.81541	GAT		0.274	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	0	NM_001006947		12:100466468
MOS	4342	broad.mit.edu	37	8	57025548	57025548	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:57025548G>A	ENST00000311923.1	-	1	993	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAAAGCAGCCGCGCGCTCGGC	0.572																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(994-996)Cgg>Tgg		v-mos Moloney murine sarcoma viral oncogene homolog							21.0	24.0	23.0					8																	57025548		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025548G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.994C>T	8.37:g.57025548G>A	ENSP00000310722:p.Arg332Trp	True	False		Somatic	0					p.R332W	NM_005372.1	NP_005363.1	WXS	Illumina HiSeq	Phase_I	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	993	-			332			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.994C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488891	0.64074	.	.	ENSG00000172680	ENST00000311923	T	0.66995	-0.24	5.8	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.731480	0.03583	N	0.230552	T	0.77651	0.4162	L	0.53729	1.69	0.09310	N	1	P	0.51791	0.948	P	0.57057	0.812	T	0.59118	-0.7514	10	0.87932	D	0	.	11.5859	0.50918	0.0:0.8023:0.13:0.0677	.	332	P00540	MOS_HUMAN	W	332	ENSP00000310722:R332W	ENSP00000310722:R332W	R	-	1	2	MOS	57188102	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	0.330000	0.19715	0.818000	0.34468	-0.311000	0.09066	CGG		0.572	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	0	NM_005372		8:57025548
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		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)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	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						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	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	226	-	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.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
FLT1	2321	broad.mit.edu	37	13	28979946	28979946	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:28979946G>A	ENST00000282397.4	-	11	1773	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	FLT1_ENST00000541932.1_Missense_Mutation_p.R508C|FLT1_ENST00000539099.1_Missense_Mutation_p.R508C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	508	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGCCATGCGCTGAGTGATG	0.368																																						ENST00000282397.4		NA																	0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1522-1524)Cgc>Tgc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						186.0	178.0	180.0					13																	28979946		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28979946G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1522C>T	13.37:g.28979946G>A	ENSP00000282397:p.Arg508Cys	False	False		Somatic	0				FLT1_ENST00000541932.1_Missense_Mutation_p.R508C|FLT1_ENST00000539099.1_Missense_Mutation_p.R508C	p.R508C	NM_002019.4	NP_002010.2	WXS	Illumina HiSeq	Phase_I	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	11	1773	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	508			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1522C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636046	0.67130	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.67865	0.84;0.84;-0.29	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.055814	0.64402	D	0.000001	D	0.82770	0.5109	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83449	0.0047	10	0.52906	T	0.07	.	15.5699	0.76326	0.0:0.0:0.7984:0.2016	.	508;508;508;508	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	C	508	ENSP00000282397:R508C;ENSP00000437631:R508C;ENSP00000442630:R508C	ENSP00000282397:R508C	R	-	1	0	FLT1	27877946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.197000	0.42696	2.854000	0.98071	0.655000	0.94253	CGC		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1	0			13:28979946
UBE4B	10277	broad.mit.edu	37	1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:10197233G>A	ENST00000253251.8	+	16	2785	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	UBE4B_ENST00000377157.3_Missense_Mutation_p.R533H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527																																						ENST00000377157.3		NA																	0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1597-1599)cGc>cAc		ubiquitination factor E4B							152.0	135.0	141.0					1																	10197233		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10197233G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1946G>A	1.37:g.10197233G>A	ENSP00000253251:p.Arg649His	False	False		Somatic	0				UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R649H	p.R533H	NM_006048.4	NP_006039.2	WXS	Illumina HiSeq	Phase_I	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	16	2659	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	778						Missense_Mutation	SNP	ENST00000253251.8	37	c.1598G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802372	0.96960	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.74	5.71	5.71	0.89125	Ubiquitin conjugation factor E4, core (1);	0.046315	0.85682	D	0.000000	T	0.64494	0.2603	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.73380	0.91;0.98;0.855	T	0.62416	-0.6859	10	0.51188	T	0.08	-13.4016	19.8673	0.96808	0.0:0.0:1.0:0.0	.	649;778;649	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	649;533;778	ENSP00000253251:R649H;ENSP00000366362:R533H;ENSP00000343001:R778H	ENSP00000253251:R649H	R	+	2	0	UBE4B	10119820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.806000	0.99153	2.709000	0.92574	0.655000	0.94253	CGC		0.527	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	0	NM_006048		1:10197233
CXorf21	80231	broad.mit.edu	37	X	30577641	30577641	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:30577641A>T	ENST00000378962.3	-	3	1154	c.832T>A	c.(832-834)Ttg>Atg	p.L278M		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	278										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GTTGACATCAATTGCAATAGG	0.398																																						ENST00000378962.3		NA																	0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(832-834)Ttg>Atg		chromosome X open reading frame 21							78.0	69.0	72.0					X																	30577641		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577641A>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.832T>A	X.37:g.30577641A>T	ENSP00000368245:p.Leu278Met	False	False		Somatic	0					p.L278M	NM_025159.2	NP_079435.1	WXS	Illumina HiSeq	Phase_I	Q9HAI6	CX021_HUMAN			3	1154	-			278						Missense_Mutation	SNP	ENST00000378962.3	37	c.832T>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031426	0.19590	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	1.36	0.22044	.	0.417714	0.22387	N	0.060739	T	0.36963	0.0986	L	0.51422	1.61	0.25525	N	0.987333	P	0.50617	0.937	P	0.53809	0.735	T	0.14392	-1.0474	9	0.45353	T	0.12	-3.0314	3.1843	0.06596	0.4426:0.0:0.238:0.3193	.	278	Q9HAI6	CX021_HUMAN	M	278	.	ENSP00000368245:L278M	L	-	1	2	CXorf21	30487562	0.999000	0.42202	0.692000	0.30179	0.104000	0.19210	0.733000	0.26087	0.251000	0.21505	-0.509000	0.04479	TTG		0.398	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	0	NM_025159		X:30577641
KMT2B	9757	broad.mit.edu	37	19	36216703	36216703	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36216703G>A	ENST00000222270.7	+	13	3869	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	KMT2B_ENST00000420124.1_Missense_Mutation_p.R1290H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1290					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGGGCCACGCGCAAACGGCGC	0.607																																						ENST00000420124.1		NA																	0					NA						c.(3868-3870)cGc>cAc		lysine (K)-specific methyltransferase 2B							20.0	24.0	23.0					19																	36216703		2030	4178	6208	SO:0001583	missense	9757							g.chr19:36216703G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3869G>A	19.37:g.36216703G>A	ENSP00000222270:p.Arg1290His	False	False		Somatic	0				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.R1290H	p.R1290H			WXS	Illumina HiSeq	Phase_I					13	3869	+			NA					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3869G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440563	0.63067	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84660	-1.88;-1.88	5.17	5.17	0.71159	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45126	D	0.000384	D	0.87208	0.6120	N	0.24115	0.695	0.45087	D	0.998103	D	0.89917	1.0	D	0.71870	0.975	D	0.88069	0.2799	10	0.52906	T	0.07	.	17.613	0.88059	0.0:0.0:1.0:0.0	.	1290	Q9UMN6	MLL4_HUMAN	H	1290	ENSP00000222270:R1290H;ENSP00000398837:R1290H	ENSP00000222270:R1290H	R	+	2	0	AD000671.1	40908543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.579000	0.53900	2.691000	0.91804	0.655000	0.94253	CGC		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014727		19:36216703
SPHKAP	80309	broad.mit.edu	37	2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A930V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473																																						ENST00000392056.3		NA																	2	Substitution - Missense(2)	p.A930V(2)	large_intestine(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2788-2790)gCg>gTg		SPHK1 interactor, AKAP domain containing							192.0	174.0	180.0					2																	228882781		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882781G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2789C>T	2.37:g.228882781G>A	ENSP00000375909:p.Ala930Val	False	False		Somatic	0				SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	p.A930V	NM_001142644.1	NP_001136116.1	WXS	Illumina HiSeq	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2835	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	930			PKA-RII subunit binding domain (By similarity).		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2789C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036317	0.75617	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27557	1.68;1.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61058	-0.7139	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	930;930	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	930	ENSP00000375909:A930V;ENSP00000339886:A930V	ENSP00000339886:A930V	A	-	2	0	SPHKAP	228591025	1.000000	0.71417	0.980000	0.43619	0.385000	0.30292	9.096000	0.94182	2.894000	0.99253	0.655000	0.94253	GCG		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	0	NM_030623		2:228882781
AOC3	8639	broad.mit.edu	37	17	41006599	41006599	+	Missense_Mutation	SNP	G	G	A	rs151291423		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:41006599G>A	ENST00000308423.2	+	2	1895	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	579					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGCCTTCCTCGTGGGAAGCGC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16238	0.001		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2		NA																	0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1735-1737)Gtg>Atg		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	41.0	38.0	39.0		1735	-2.9	0.9	17	dbSNP_134	39	0,8600		0,0,4300	no	missense	AOC3	NM_003734.2	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	579/764	41006599	2,13004	2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41006599G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1735G>A	17.37:g.41006599G>A	ENSP00000312326:p.Val579Met	False	False		Somatic	0				AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	p.V579M	NM_003734.2	NP_003725.1	WXS	Illumina HiSeq	Phase_I	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1895	+		Breast(137;0.000143)	579					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1735G>A	CCDS11444.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.783	0.513399	0.12944	4.54E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04119	3.7	5.32	-2.88	0.05682	Copper amine oxidase, C-terminal (3);	0.357546	0.26549	N	0.023746	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.39292	-0.9621	10	0.39692	T	0.17	.	2.3969	0.04392	0.3096:0.3338:0.2405:0.1161	.	579	Q16853	AOC3_HUMAN	M	579	ENSP00000312326:V579M	ENSP00000312326:V579M	V	+	1	0	AOC3	38260125	0.001000	0.12720	0.879000	0.34478	0.007000	0.05969	0.172000	0.16704	-0.045000	0.13468	-1.127000	0.01993	GTG		0.652	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	0	NM_003734		17:41006599
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478																																						ENST00000305031.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1234-1236)cGc>cAc		chondroitin sulfate synthase 3		G	HIS/ARG	0,4406		0,0,2203	98.0	89.0	92.0		1235	4.5	1.0	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520070G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His	False	False		Somatic	0				CHSY3_ENST00000507545.1_3'UTR	p.R412H	NM_175856.4	NP_787052.3	WXS	Illumina HiSeq	Phase_I	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1593	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	412					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1235G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		0.478	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	0	NM_175856		5:129520070
RREB1	6239	broad.mit.edu	37	6	7229268	7229268	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229268G>T	ENST00000349384.6	+	10	1250	c.936G>T	c.(934-936)gaG>gaT	p.E312D	RREB1_ENST00000379933.3_Missense_Mutation_p.E312D|RREB1_ENST00000379938.2_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	312					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCATCAGCGAGCAACACCGTT	0.522																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(934-936)gaG>gaT		ras responsive element binding protein 1							83.0	64.0	71.0					6																	7229268		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229268G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.936G>T	6.37:g.7229268G>T	ENSP00000305560:p.Glu312Asp	False	False		Somatic	0				RREB1_ENST00000379933.3_Missense_Mutation_p.E312D|RREB1_ENST00000349384.6_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D	p.E312D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			10	1473	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	312					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.936G>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287328	0.23478	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.71	2.22	0.28083	.	0.107300	0.39407	N	0.001366	T	0.16685	0.0401	N	0.13140	0.3	0.33872	D	0.635106	B;B;B	0.22604	0.03;0.072;0.058	B;B;B	0.29353	0.101;0.043;0.022	T	0.03933	-1.0991	10	0.46703	T	0.11	-48.8501	0.7439	0.00979	0.3902:0.1627:0.2814:0.1657	.	312;312;312	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	312	ENSP00000369265:E312D;ENSP00000369270:E312D;ENSP00000305560:E312D;ENSP00000335574:E312D;ENSP00000419511:E312D	ENSP00000335574:E312D	E	+	3	2	RREB1	7174267	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.151000	0.42263	0.645000	0.30675	0.462000	0.41574	GAG		0.522	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7229268
CUBN	8029	broad.mit.edu	37	10	17145151	17145151	+	Silent	SNP	G	G	A	rs373833244		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:17145151G>A	ENST00000377833.4	-	13	1568	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	501	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATAACCCAGAAGCAGTTAA	0.358																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1501-1503)ttC>ttT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G		1,4405	2.1+/-5.4	0,1,2202	100.0	99.0	99.0		1503	4.8	1.0	10		99	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		501/3624	17145151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17145151G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1503C>T	10.37:g.17145151G>A		False	False		Somatic	0					p.F501F	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			13	1568	-			501			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.1503C>T	CCDS7113.1																																																																																				0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:17145151
SMOC1	64093	broad.mit.edu	37	14	70418995	70418995	+	Silent	SNP	C	C	T	rs111874562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:70418995C>T	ENST00000381280.4	+	2	493	c.240C>T	c.(238-240)ggC>ggT	p.G80G	SMOC1_ENST00000361956.3_Silent_p.G80G|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	80	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACCCTGGGCGTGGTGCATC	0.597																																						ENST00000381280.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(238-240)ggC>ggT		SPARC related modular calcium binding 1							107.0	93.0	98.0					14																	70418995		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418995C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.240C>T	14.37:g.70418995C>T		True	False		Somatic	0				SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	WXS	Illumina HiSeq	Phase_I	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	493	+			80			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.240C>T	CCDS9798.1																																																																																				0.597	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1	0			14:70418995
FREM2	341640	broad.mit.edu	37	13	39425162	39425162	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:39425162G>A	ENST00000280481.7	+	10	6875	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2220	Calx-beta 4.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTACTCGGCACTCCACAA	0.468																																						ENST00000280481.7		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6658-6660)gGc>gAc		FRAS1 related extracellular matrix protein 2							96.0	89.0	91.0					13																	39425162		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425162G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6659G>A	13.37:g.39425162G>A	ENSP00000280481:p.Gly2220Asp	False	False		Somatic	0					p.G2220D	NM_207361.4	NP_997244.3	WXS	Illumina HiSeq	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	6875	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2220			Calx-beta 4.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6659G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725627	0.68959	.	.	ENSG00000150893	ENST00000280481	T	0.27890	1.64	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68678	-0.5345	10	0.87932	D	0	.	19.0387	0.92989	0.0:0.0:1.0:0.0	.	2220;2220	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	D	2220	ENSP00000280481:G2220D	ENSP00000280481:G2220D	G	+	2	0	FREM2	38323162	1.000000	0.71417	0.291000	0.24904	0.025000	0.11179	9.457000	0.97630	2.749000	0.94314	0.650000	0.86243	GGC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	NM_207361		13:39425162
