#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification
GJB5	2709	broad.mit.edu	37	1	35223555	35223555	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:35223555G>A	ENST00000338513.1	+	2	797	c.624G>A	c.(622-624)ctG>ctA	p.L208L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	208					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTACCTGGTGAGCAAGA	0.552																																						uc001bxu.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(622-624)ctG>ctA		Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.							130.0	107.0	115.0					1																	35223555		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223555G>A	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.624G>A	1.37:g.35223555G>A						GJB5_uc021okz.1_Silent_p.L208L|GJB4_uc001bxv.1_5'Flank	p.L208L	NM_005268	NP_005259	O95377	CXB5_HUMAN			1	724	+		Myeloproliferative disorder(586;0.0393)	208					Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.624G>A	CCDS382.1																																																																																				0.552	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268	
DMAP1	55929	broad.mit.edu	37	1	44684377	44684377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:44684377C>T	ENST00000372289.2	+	5	933	c.670C>T	c.(670-672)Cga>Tga	p.R224*	DMAP1_ENST00000315913.5_Nonsense_Mutation_p.R224*|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Nonsense_Mutation_p.R224*	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	224					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCACGAACGACGGCGGAA	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001clq.1																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(670-672)Cga>Tga		Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.							120.0	113.0	116.0					1																	44684377		2203	4300	6503	SO:0001587	stop_gained	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44684377C>T	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.670C>T	1.37:g.44684377C>T	ENSP00000361363:p.Arg224*		OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Nonsense_Mutation_p.R224*|DMAP1_uc001cls.1_Nonsense_Mutation_p.R224*|DMAP1_uc010oku.1_Nonsense_Mutation_p.R214*	p.R224*	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN			5	750	+	Acute lymphoblastic leukemia(166;0.155)		224					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Nonsense_Mutation	SNP	ENST00000372289.2	37	c.670C>T	CCDS509.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901053	0.92035	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6821	8.9151	0.35576	0.4641:0.42:0.1159:0.0	.	.	.	.	X	224;224;250;224;250;224;224	.	ENSP00000312697:R224X	R	+	1	2	DMAP1	44456964	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.739000	0.47409	1.388000	0.46506	0.655000	0.94253	CGA		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	
FLG	2312	broad.mit.edu	37	1	152286042	152286042	+	Silent	SNP	G	G	A	rs376019219		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:152286042G>A	ENST00000368799.1	-	3	1355	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	440	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTTTCCGTGGCCTGACA	0.592									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1318-1320)caC>caT		Homo sapiens filaggrin (FLG), mRNA.		G		0,4406		0,0,2203	203.0	199.0	201.0		1320	-6.3	0.0	1		201	2,8598		0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		440/4062	152286042	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286042G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1320C>T	1.37:g.152286042G>A						AK056431_uc001ezv.3_Non-coding_Transcript	p.H440H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1356	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		440			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1320C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						uc001fmi.1																			1	Deletion - Frameshift(1)	p.R516fs*21(2)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)aggfs		Homo sapiens KIAA0907 (KIAA0907), mRNA.																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	p.R516fs	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1570_1571	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
NES	10763	broad.mit.edu	37	1	156640774	156640774	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:156640774T>A	ENST00000368223.3	-	4	3338	c.3206A>T	c.(3205-3207)gAt>gTt	p.D1069V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1069	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCACATCATCTTCCACCAG	0.682																																						uc001fpq.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3205-3207)gAt>gTt		Homo sapiens nestin (NES), mRNA.							24.0	28.0	27.0					1																	156640774		2198	4288	6486	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640774T>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3206A>T	1.37:g.156640774T>A	ENSP00000357206:p.Asp1069Val					NES_uc021pbh.1_5'Flank	p.D1069V	NM_006617	NP_006608	P48681	NEST_HUMAN			3	3339	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1069			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3206A>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963751	0.53507	.	.	ENSG00000132688	ENST00000368223	D	0.87179	-2.22	5.25	-4.18	0.03846	.	1.364740	0.05267	N	0.516861	T	0.50051	0.1593	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.47787	-0.9090	10	0.72032	D	0.01	.	2.0631	0.03596	0.1283:0.3388:0.1317:0.4013	.	1069	P48681	NEST_HUMAN	V	1069	ENSP00000357206:D1069V	ENSP00000357206:D1069V	D	-	2	0	NES	154907398	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.434000	0.06939	-0.686000	0.05170	-0.490000	0.04691	GAT		0.682	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
MROH9	80133	broad.mit.edu	37	1	170961421	170961421	+	Missense_Mutation	SNP	C	C	T	rs201493255		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:170961421C>T	ENST00000367758.3	+	12	1244	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	MROH9_ENST00000367759.4_Missense_Mutation_p.T382M	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	382																	GACACCGTAACGGAAGGGAAA	0.468																																						uc010plz.2																			0		p.V381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(1144-1146)aCg>aTg		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.							158.0	161.0	160.0					1																	170961421		1984	4151	6135	SO:0001583	missense	80133						binding	g.chr1:170961421C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1145C>T	1.37:g.170961421C>T	ENSP00000356732:p.Thr382Met					C1orf129_uc001ghg.3_Missense_Mutation_p.T382M|C1orf129_uc009wvy.3_Missense_Mutation_p.T189M	p.T382M	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			11	1299	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		382					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1145C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049099	0.19827	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.15952	3.93;2.38	5.61	-11.2	0.00127	.	2.337330	0.01243	N	0.008677	T	0.01353	0.0044	N	0.11560	0.145	0.09310	N	1	P;B	0.34864	0.473;0.181	B;B	0.16289	0.015;0.015	T	0.26780	-1.0093	10	0.31617	T	0.26	2.2981	3.9803	0.09492	0.3491:0.4177:0.0922:0.1411	.	382;382	F5GWX6;Q5TGP6	.;CA129_HUMAN	M	382	ENSP00000356733:T382M;ENSP00000356732:T382M	ENSP00000356732:T382M	T	+	2	0	C1orf129	169228045	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.365000	0.00496	-1.924000	0.01064	-0.469000	0.05056	ACG		0.468	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
LHX9	56956	broad.mit.edu	37	1	197896816	197896816	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:197896816C>A	ENST00000367387.4	+	4	1254	c.829C>A	c.(829-831)Cac>Aac	p.H277N	LHX9_ENST00000337020.2_Missense_Mutation_p.H277N|LHX9_ENST00000367390.3_Missense_Mutation_p.H268N|LHX9_ENST00000561173.1_Missense_Mutation_p.H283N|LHX9_ENST00000367391.1_Missense_Mutation_p.H268N	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	277					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCAAGCATCACCAGCTCCG	0.527																																						uc001guk.1																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(829-831)Cac>Aac		Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.							214.0	206.0	209.0					1																	197896816		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896816C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.829C>A	1.37:g.197896816C>A	ENSP00000356357:p.His277Asn					LHX9_uc001gui.1_Missense_Mutation_p.H268N|LHX9_uc021pgw.1_Non-coding_Transcript	p.H277N	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	1266	+			277					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.829C>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153119	0.94645	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	N	0.13043	0.29	0.80722	D	1	D;D;D	0.54207	0.965;0.963;0.957	D;P;P	0.63877	0.919;0.845;0.828	D	0.95983	0.8979	10	0.62326	D	0.03	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	277;268;268	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	N	268;268;277;277	ENSP00000356361:H268N;ENSP00000356360:H268N;ENSP00000337969:H277N;ENSP00000356357:H277N	ENSP00000337969:H277N	H	+	1	0	LHX9	196163439	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	CAC		0.527	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
PCNXL2	80003	broad.mit.edu	37	1	233394108	233394108	+	Silent	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:233394108T>C	ENST00000258229.9	-	5	1734	c.1500A>G	c.(1498-1500)acA>acG	p.T500T	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	500						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCGGAGCCTGTATCAGGTG	0.562																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1498-1500)acA>acG		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							69.0	71.0	71.0					1																	233394108		1997	4168	6165	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394108T>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1500A>G	1.37:g.233394108T>C						PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	p.T500T	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			4	1735	-		all_cancers(173;0.0347)|Prostate(94;0.137)	500					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.1500A>G	CCDS44335.1																																																																																				0.562	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
GDF2	2658	broad.mit.edu	37	10	48413762	48413762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:48413762G>A	ENST00000249598.1	-	2	1265	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	369					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTTCGTCGGCGTCACATCGTC	0.582																																						uc001jfa.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(1105-1107)aCg>aTg		Homo sapiens growth differentiation factor 2 (GDF2), mRNA.							128.0	105.0	113.0					10																	48413762		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413762G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1106C>T	10.37:g.48413762G>A	ENSP00000249598:p.Thr369Met						p.T369M	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			1	1266	-			369					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.1106C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644912	0.47258	.	.	ENSG00000128802	ENST00000249598	D	0.88975	-2.45	5.62	5.62	0.85841	Transforming growth factor-beta, C-terminal (3);	0.044369	0.85682	D	0.000000	D	0.94761	0.8309	M	0.81682	2.555	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.95033	0.8171	10	0.87932	D	0	.	18.6283	0.91349	0.0:0.0:1.0:0.0	.	369	Q9UK05	GDF2_HUMAN	M	369	ENSP00000249598:T369M	ENSP00000249598:T369M	T	-	2	0	GDF2	48033768	1.000000	0.71417	0.960000	0.40013	0.271000	0.26615	5.312000	0.65792	2.652000	0.90054	0.585000	0.79938	ACG		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204	
PTEN	5728	broad.mit.edu	37	10	89692992	89692992	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:89692992G>A	ENST00000371953.3	+	5	1833	c.476G>A	c.(475-477)aGg>aAg	p.R159K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	159	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGGAAGTAAGGACCAGAGAC	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)	p.0?(37)|p.R159K(10)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(475-477)aGg>aAg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							54.0	56.0	55.0					10																	89692992		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692992G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.476G>A	10.37:g.89692992G>A	ENSP00000361021:p.Arg159Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R159K	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1508	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	159			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.476G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268260	0.95429	.	.	ENSG00000171862	ENST00000371953	D	0.99737	-6.59	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.83953	2.67	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97857	1.0278	9	.	.	.	-3.7525	18.493	0.90854	0.0:0.0:1.0:0.0	.	159	P60484	PTEN_HUMAN	K	159	ENSP00000361021:R159K	.	R	+	2	0	PTEN	89682972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	AGG		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PRDM11	56981	broad.mit.edu	37	11	45117447	45117447	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:45117447G>A	ENST00000530656.1	+	1	91	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PRDM11_ENST00000263765.4_Missense_Mutation_p.E31K			Q9NQV5	PRD11_HUMAN	PR domain containing 11	31							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ttaccagagagagaaagtaag	0.488																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(91-93)Gag>Aag		Homo sapiens PR domain containing 11 (PRDM11), mRNA.							101.0	85.0	91.0					11																	45117447		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45117447G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.91G>A	11.37:g.45117447G>A	ENSP00000435976:p.Glu31Lys						p.E31K	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			1	340	+			31					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	G	5.870	0.344659	0.11126	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.46451	0.87;0.87	2.61	-0.359	0.12571	.	7739.210000	0.00424	N	0.000071	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19128	-1.0315	10	0.52906	T	0.07	.	3.0538	0.06177	0.2849:0.2341:0.481:0.0	.	31	Q9NQV5	PRD11_HUMAN	K	31	ENSP00000263765:E31K;ENSP00000435976:E31K	ENSP00000263765:E31K	E	+	1	0	PRDM11	45074023	0.743000	0.28239	0.000000	0.03702	0.001000	0.01503	1.437000	0.34991	-0.081000	0.12662	-1.373000	0.01185	GAG		0.488	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
BCL9L	283149	broad.mit.edu	37	11	118773532	118773532	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:118773532G>A	ENST00000334801.3	-	6	1884	c.920C>T	c.(919-921)cCg>cTg	p.P307L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	307	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCGGCGGCGGCAGTGGAGG	0.716																																						uc001pug.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(919-921)cCg>cTg		Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.							5.0	7.0	6.0					11																	118773532		1968	3996	5964	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773532G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.920C>T	11.37:g.118773532G>A	ENSP00000335320:p.Pro307Leu					BCL9L_uc009zal.3_Missense_Mutation_p.P302L	p.P307L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	5	1885	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	307			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.920C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100174	0.37048	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65178	-0.14	4.1	4.1	0.47936	.	0.000000	0.44902	D	0.000415	T	0.64371	0.2592	N	0.14661	0.345	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.69764	-0.5057	10	0.54805	T	0.06	.	14.68	0.69009	0.0:0.0:1.0:0.0	.	302;307	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	307;270;307;307	ENSP00000335320:P307L	ENSP00000335320:P307L	P	-	2	0	BCL9L	118278742	0.948000	0.32251	0.977000	0.42913	0.629000	0.37895	1.430000	0.34914	2.133000	0.65898	0.305000	0.20034	CCG		0.716	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
TRIM29	23650	broad.mit.edu	37	11	120008709	120008709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:120008709C>T	ENST00000341846.5	-	1	452	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	11					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCTCGACCCGTTGCTCCTG	0.632																																						uc001pwz.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(31-33)Ggg>Agg		Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.							17.0	18.0	18.0					11																	120008709		2200	4298	6498	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008709C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.31G>A	11.37:g.120008709C>T	ENSP00000343129:p.Gly11Arg					TRIM29_uc001pxa.3_Non-coding_Transcript	p.G11R	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	0	155	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	11					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.31G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899199	0.72754	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833;ENST00000529040	T	0.60797	0.16	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.53400	0.1794	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.51615	0.675	T	0.50448	-0.8827	9	.	.	.	.	12.2457	0.54568	0.0:0.9213:0.0:0.0787	.	11	Q14134	TRI29_HUMAN	R	11	ENSP00000343129:G11R	.	G	-	1	0	TRIM29	119513919	0.001000	0.12720	0.771000	0.31576	0.943000	0.58893	0.513000	0.22770	1.256000	0.44068	0.655000	0.94253	GGG		0.632	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101	
LRTM2	654429	broad.mit.edu	37	12	1943505	1943505	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:1943505T>G	ENST00000543818.1	+	5	1573	c.731T>G	c.(730-732)aTg>aGg	p.M244R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.M244R|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.M244R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	244	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ATGGTCCCCATGGAGATGTTC	0.597																																						uc001qjt.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(730-732)aTg>aGg		Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.							61.0	50.0	54.0					12																	1943505		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1943505T>G	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.731T>G	12.37:g.1943505T>G	ENSP00000446278:p.Met244Arg					CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	p.M244R	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1537	+	Ovarian(42;0.107)		244			LRRCT.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.731T>G	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801220	0.31869	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000424079	T;T;T	0.51325	0.71;0.71;0.71	5.32	5.32	0.75619	Cysteine-rich flanking region, C-terminal (1);	0.097380	0.64402	D	0.000001	T	0.30417	0.0764	N	0.10916	0.065	0.47949	D	0.999556	B	0.10296	0.003	B	0.15484	0.013	T	0.08106	-1.0738	10	0.25751	T	0.34	.	15.2906	0.73862	0.0:0.0:0.0:1.0	.	244	Q8N967	LRTM2_HUMAN	R	244;244;244;6	ENSP00000446278:M244R;ENSP00000299194:M244R;ENSP00000444737:M244R	ENSP00000299194:M244R	M	+	2	0	LRTM2	1813766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.802000	0.38853	2.014000	0.59158	0.533000	0.62120	ATG		0.597	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1		
CD163L1	283316	broad.mit.edu	37	12	7527093	7527093	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:7527093G>A	ENST00000313599.3	-	13	3411	c.3354C>T	c.(3352-3354)cgC>cgT	p.R1118R	CD163L1_ENST00000396630.1_Silent_p.R1118R|CD163L1_ENST00000416109.2_Silent_p.R1128R|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1118	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCCCCAGCCGCGGGAAGGGC	0.617																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3382-3384)cgC>cgT		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							75.0	68.0	70.0					12																	7527093		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527093G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3354C>T	12.37:g.7527093G>A						CD163L1_uc001qsy.3_Silent_p.R1118R	p.R1128R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			12	3410	-			1118			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3384C>T	CCDS8577.1																																																																																				0.617	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
OVCH1	341350	broad.mit.edu	37	12	29628035	29628035	+	Missense_Mutation	SNP	C	C	T	rs376772357		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:29628035C>T	ENST00000318184.5	-	14	1558	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	520	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R520H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCTTGTAAACGATTTTTACC	0.338																																						uc001rix.1																			1	Substitution - Missense(1)	p.R520H(2)	pancreas(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1558-1560)cGt>cAt		Homo sapiens ovochymase 1 (OVCH1), mRNA.		C	HIS/ARG	0,3688		0,0,1844	61.0	55.0	57.0		1559	-0.1	0.0	12		57	1,8175		0,1,4087	no	missense	OVCH1	NM_183378.2	29	0,1,5931	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	520/1135	29628035	1,11863	1844	4088	5932	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29628035C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1559G>A	12.37:g.29628035C>T	ENSP00000326708:p.Arg520His						p.R520H	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			13	1559	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		520			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1559G>A		.	.	.	.	.	.	.	.	.	.	C	10.43	1.347404	0.24426	0.0	1.22E-4	ENSG00000187950	ENST00000318184	T	0.18174	2.23	2.27	-0.115	0.13560	CUB (5);	.	.	.	.	T	0.08846	0.0219	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	9	0.48119	T	0.1	.	6.9179	0.24369	0.0:0.276:0.0:0.724	.	520	Q7RTY7	OVCH1_HUMAN	H	520	ENSP00000326708:R520H	ENSP00000326708:R520H	R	-	2	0	OVCH1	29519302	0.081000	0.21417	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	-0.042000	0.13535	-0.698000	0.03680	CGT		0.338	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
KRT79	338785	broad.mit.edu	37	12	53217720	53217720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53217720G>A	ENST00000330553.5	-	6	1131	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	366	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAGTGCGGGTGAGCTCAGC	0.612																																						uc001sbb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1096-1098)aCc>aTc		Homo sapiens keratin 79 (KRT79), mRNA.							84.0	67.0	73.0					12																	53217720		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217720G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1097C>T	12.37:g.53217720G>A	ENSP00000328358:p.Thr366Ile					KRT79_uc001sba.3_Missense_Mutation_p.T137I	p.T366I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			5	1130	-			366			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1097C>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360258	0.61403	.	.	ENSG00000185640	ENST00000330553	D	0.88741	-2.42	4.03	4.03	0.46877	Filament (1);	0.000000	0.48286	D	0.000190	D	0.92309	0.7560	M	0.72894	2.215	0.34567	D	0.713065	D	0.58970	0.984	P	0.62560	0.904	D	0.94792	0.7963	10	0.87932	D	0	.	11.8461	0.52385	0.0:0.0:0.8127:0.1873	.	366	Q5XKE5	K2C79_HUMAN	I	366	ENSP00000328358:T366I	ENSP00000328358:T366I	T	-	2	0	KRT79	51503987	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.619000	0.36965	2.535000	0.85469	0.549000	0.68633	ACC		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
EIF4B	1975	broad.mit.edu	37	12	53421578	53421578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53421578G>A	ENST00000262056.9	+	7	1006	c.680G>A	c.(679-681)cGt>cAt	p.R227H	EIF4B_ENST00000416762.3_Missense_Mutation_p.R188H|EIF4B_ENST00000420463.3_Missense_Mutation_p.R227H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	227	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TATCGAGATCGTTATGATTCA	0.483																																						uc001sbh.4																			0		p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(679-681)cGt>cAt		Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.							157.0	144.0	148.0					12																	53421578		1940	4131	6071	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421578G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.680G>A	12.37:g.53421578G>A	ENSP00000262056:p.Arg227His					EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227H|EIF4B_uc010snv.2_Missense_Mutation_p.R188H	p.R227H	NM_001417	NP_001408	P23588	IF4B_HUMAN			6	886	+			227			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.680G>A	CCDS41788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.90|17.90	3.502457|3.502457	0.64298|0.64298	.|.	.|.	ENSG00000063046|ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000416762;ENST00000549481|ENST00000430205	T;T;D|.	0.93659|.	0.55;0.54;-3.26|.	3.96|3.96	3.07|3.07	0.35406|0.35406	.|.	0.067071|0.067071	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.53626|0.53626	0.1808|0.1808	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	B;B;B|.	0.20459|.	0.045;0.027;0.027|.	B;B;B|.	0.14023|.	0.01;0.005;0.005|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|7	0.25751|0.49607	T|T	0.34|0.09	.|.	9.7108|9.7108	0.40245|0.40245	0.1036:0.0:0.8964:0.0|0.1036:0.0:0.8964:0.0	.|.	188;227;227|.	B4DS13;E7EX17;P23588|.	.;.;IF4B_HUMAN|.	H|Q	227;227;188;182|227	ENSP00000262056:R227H;ENSP00000388806:R227H;ENSP00000449746:R182H|.	ENSP00000262056:R227H|ENSP00000414531:R227Q	R|R	+|+	2|2	0|0	EIF4B|EIF4B	51707845|51707845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.648000|5.648000	0.67930|0.67930	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	CGT|CGA		0.483	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	
CPSF6	11052	broad.mit.edu	37	12	69646899	69646899	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:69646899A>C	ENST00000435070.2	+	3	449	c.339A>C	c.(337-339)aaA>aaC	p.K113N	CPSF6_ENST00000456847.3_Missense_Mutation_p.K113N|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.K113N|CPSF6_ENST00000550987.1_3'UTR	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	113	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGAGATAAAATTTTTTGAAA	0.323																																						uc001sut.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(337-339)aaA>aaC		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							60.0	65.0	63.0					12																	69646899		2203	4299	6502	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69646899A>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.339A>C	12.37:g.69646899A>C	ENSP00000391774:p.Lys113Asn					CPSF6_uc001suu.4_Missense_Mutation_p.K113N	p.K113N	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		2	449	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		113			Necessary for interaction with NUDT21/CPSF5.|RRM.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.339A>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005749	0.54254	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.09255	3.0;3.0;3.0	5.18	1.48	0.22813	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.75085	2.285	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.76071	0.978;0.987	T	0.00575	-1.1663	9	.	.	.	-12.785	10.1008	0.42504	0.7325:0.0:0.2675:0.0	.	113;113	Q16630-2;Q16630	.;CPSF6_HUMAN	N	113	ENSP00000391774:K113N;ENSP00000391437:K113N;ENSP00000266679:K113N	.	K	+	3	2	CPSF6	67933166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.375000	0.44283	0.146000	0.19002	0.533000	0.62120	AAA		0.323	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
HAL	3034	broad.mit.edu	37	12	96389631	96389631	+	Missense_Mutation	SNP	C	C	T	rs200511325		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:96389631C>T	ENST00000261208.3	-	2	426	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	HAL_ENST00000538703.1_Missense_Mutation_p.A20T|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	20					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGAGCTGCGCGTCCTGGCAG	0.642																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(58-60)Gcg>Acg		Homo sapiens histidine ammonia-lyase (HAL), mRNA.	L-Histidine(DB00117)						34.0	29.0	31.0					12																	96389631		2202	4297	6499	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389631C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.58G>A	12.37:g.96389631C>T	ENSP00000261208:p.Ala20Thr					HAL_uc010sux.1_Missense_Mutation_p.A20T|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	p.A20T	NM_002108	NP_002099	P42357	HUTH_HUMAN			1	355	-			20					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.58G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665154	0.29604	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.09;-1.08;-2.06	5.2	3.27	0.37495	.	0.629120	0.17777	N	0.162376	T	0.74030	0.3663	L	0.36672	1.1	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.58803	-0.7572	10	0.31617	T	0.26	-5.982	4.1429	0.10201	0.1489:0.5731:0.1462:0.1318	.	20;20	F5GXF2;P42357	.;HUTH_HUMAN	T	20	ENSP00000261208:A20T;ENSP00000440861:A20T;ENSP00000450372:A20T	ENSP00000261208:A20T	A	-	1	0	HAL	94913762	0.000000	0.05858	0.746000	0.31095	0.670000	0.39368	-0.062000	0.11674	1.259000	0.44117	0.491000	0.48974	GCG		0.642	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
STAB2	55576	broad.mit.edu	37	12	104126949	104126949	+	Nonsense_Mutation	SNP	C	C	T	rs199907100		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104126949C>T	ENST00000388887.2	+	51	5653	c.5449C>T	c.(5449-5451)Cga>Tga	p.R1817*		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATGTGATACGAGATGCCAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		23920	0.001		0.0	False		,,,				2504	0.0					uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5449-5451)Cga>Tga		Homo sapiens stabilin 2 (STAB2), mRNA.		C	stop/ARG	0,4406		0,0,2203	204.0	182.0	189.0		5449	4.0	1.0	12		189	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	STAB2	NM_017564.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1817/2552	104126949	1,13005	2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104126949C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5449C>T	12.37:g.104126949C>T	ENSP00000373539:p.Arg1817*					STAB2_uc009zug.3_Non-coding_Transcript	p.R1817*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			50	5635	+			1817			FAS1 6.			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.5449C>T	CCDS31888.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	46	12.961855	0.99709	0.0	1.16E-4	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.01	4.03	0.46877	.	0.156225	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7749	0.23615	0.3457:0.5143:0.14:0.0	.	.	.	.	X	1817;504	.	ENSP00000258495:R504X	R	+	1	2	STAB2	102651079	0.999000	0.42202	1.000000	0.80357	0.849000	0.48306	1.000000	0.29770	2.326000	0.78906	0.655000	0.94253	CGA		0.463	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
NFYB	4801	broad.mit.edu	37	12	104517017	104517017	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104517017T>C	ENST00000240055.3	-	5	643	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Missense_Mutation_p.Q139R	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	139	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAATTTCTGAAGGTATAA	0.363																																						uc001tkl.1																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(415-417)cAg>cGg		Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.							73.0	72.0	72.0					12																	104517017		2203	4300	6503	SO:0001583	missense	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517017T>C		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.416A>G	12.37:g.104517017T>C	ENSP00000240055:p.Gln139Arg						p.Q139R	NM_006166	NP_006157	P25208	NFYB_HUMAN			4	617	-			139			B domain.		A8K7B9|Q96IY8	Missense_Mutation	SNP	ENST00000240055.3	37	c.416A>G	CCDS9098.1	.	.	.	.	.	.	.	.	.	.	.	18.65	3.669516	0.67814	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.22134	1.97;1.97	5.49	5.49	0.81192	Histone-fold (2);	0.111193	0.64402	D	0.000006	T	0.22975	0.0555	M	0.67953	2.075	0.80722	D	1	P	0.35872	0.525	B	0.24269	0.052	T	0.04413	-1.0953	10	0.59425	D	0.04	-18.2343	15.5928	0.76550	0.0:0.0:0.0:1.0	.	139	P25208	NFYB_HUMAN	R	139	ENSP00000240055:Q139R;ENSP00000447486:Q139R	ENSP00000240055:Q139R	Q	-	2	0	NFYB	103041147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.088000	0.63022	0.482000	0.46254	CAG		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1		
TPCN1	53373	broad.mit.edu	37	12	113724880	113724880	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113724880C>T	ENST00000335509.6	+	19	1929	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	TPCN1_ENST00000392569.4_Missense_Mutation_p.R471C|TPCN1_ENST00000541517.1_Missense_Mutation_p.R611C|TPCN1_ENST00000550785.1_Missense_Mutation_p.R611C	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGTGGTCCTGCGCCCCCTCCA	0.617																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1831-1833)Cgc>Tgc		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							115.0	98.0	104.0					12																	113724880		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113724880C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1615C>T	12.37:g.113724880C>T	ENSP00000335300:p.Arg539Cys					TPCN1_uc001tuw.3_Missense_Mutation_p.R539C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	p.R611C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			19	2005	+			539					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1831C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384986	0.82792	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98626	1.0669	10	0.87932	D	0	-10.6929	19.4665	0.94945	0.0:1.0:0.0:0.0	.	539;611;539	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	C	539;611;611;471	ENSP00000335300:R539C;ENSP00000448083:R611C;ENSP00000438125:R611C;ENSP00000376350:R471C	ENSP00000335300:R539C	R	+	1	0	TPCN1	112209263	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	2.682000	0.91365	0.643000	0.83706	CGC		0.617	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
SDSL	113675	broad.mit.edu	37	12	113873227	113873227	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113873227G>A	ENST00000403593.4	+	6	799	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SDSL_ENST00000345635.4_Silent_p.L179L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	179					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGGGTCTCCTGGCCGGGGTGG	0.657																																						uc001tvi.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(535-537)ctG>ctA		Homo sapiens serine dehydratase-like (SDSL), mRNA.	Pyridoxal Phosphate(DB00114)						22.0	24.0	24.0					12																	113873227		2200	4296	6496	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873227G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.537G>A	12.37:g.113873227G>A						SDSL_uc009zwh.3_Silent_p.L179L	p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			6	744	+			179						Silent	SNP	ENST00000403593.4	37	c.537G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	1.127	-0.653681	0.03480	.	.	ENSG00000139410	ENST00000546672	.	.	.	4.49	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6223	3.3933	0.07297	0.16:0.1344:0.5678:0.1379	.	.	.	.	X	75	.	.	W	+	2	0	SDSL	112357610	0.973000	0.33851	0.878000	0.34440	0.230000	0.25150	0.347000	0.20014	0.420000	0.25954	0.462000	0.41574	TGG		0.657	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432	
SCARB1	949	broad.mit.edu	37	12	125292425	125292425	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:125292425G>A	ENST00000415380.2	-	7	1016	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SCARB1_ENST00000540495.1_Silent_p.P260P|SCARB1_ENST00000261693.6_Silent_p.P297P|SCARB1_ENST00000544327.1_Silent_p.P243P|SCARB1_ENST00000376788.1_Silent_p.P197P|SCARB1_ENST00000546215.1_Silent_p.P297P|SCARB1_ENST00000339570.5_Silent_p.P297P|SCARB1_ENST00000541205.1_Silent_p.P256P|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	297			P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages). {ECO:0000269|PubMed:21226579}.		adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGATAGGTGGGGATGCCTT	0.582																																						uc001ugp.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(889-891)ccC>ccT		Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						121.0	102.0	109.0					12																	125292425		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125292425G>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.891C>T	12.37:g.125292425G>A						SCARB1_uc001ugm.4_Silent_p.P297P|SCARB1_uc001ugn.4_Silent_p.P297P|SCARB1_uc010tbd.2_Silent_p.P297P|SCARB1_uc001ugo.4_Silent_p.P297P	p.P297P	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	6	1144	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297		P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.891C>T																																																																																					0.582	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
RB1	5925	broad.mit.edu	37	13	48947596	48947596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr13:48947596C>T	ENST00000267163.4	+	12	1321	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.Q395*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCAAGTGATCAACCTTCAGA	0.294		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(3)	p.0?(15)|p.?(8)|p.Q395*(6)	bone(11)|breast(5)|central_nervous_system(3)|eye(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1183-1185)Caa>Taa		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						105.0	112.0	110.0					13																	48947596		2203	4290	6493	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947596C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1183C>T	13.37:g.48947596C>T	ENSP00000267163:p.Gln395*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Nonsense_Mutation_p.Q96*	p.Q395*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	11	1349	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	395			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1183C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	37	6.598848	0.97692	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.056954	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.5764	0.56365	0.2786:0.7214:0.0:0.0	.	.	.	.	X	374;395	.	ENSP00000267163:Q395X	Q	+	1	0	RB1	47845597	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.375000	0.44283	2.612000	0.88384	0.563000	0.77884	CAA		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
OR4K5	79317	broad.mit.edu	37	14	20389151	20389151	+	Missense_Mutation	SNP	C	C	A	rs559771911	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr14:20389151C>A	ENST00000315915.4	+	1	411	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGCAAACCCTTATACTAT	0.448													C|||	4	0.000798722	0.003	0.0	5008	,	,		30595	0.0		0.0	False		,,,				2504	0.0					uc010tkw.2																			0		p.P129S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(385-387)cCc>cAc		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							225.0	224.0	224.0					14																	20389151		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389151C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.386C>A	14.37:g.20389151C>A	ENSP00000319511:p.Pro129His						p.P129H	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	386	+	all_cancers(95;0.00108)		129					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.386C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.280781	0.59758	.	.	ENSG00000176281	ENST00000315915	T	0.01918	4.56	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.24661	0.0598	H	0.98883	4.36	0.50313	D	0.999868	D	0.89917	1.0	D	0.87578	0.998	T	0.49790	-0.8902	10	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	129	Q8NGD3	OR4K5_HUMAN	H	129	ENSP00000319511:P129H	ENSP00000319511:P129H	P	+	2	0	OR4K5	19458991	1.000000	0.71417	0.919000	0.36401	0.304000	0.27724	6.964000	0.76061	2.269000	0.75478	0.655000	0.94253	CCC		0.448	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
RNF151	146310	broad.mit.edu	37	16	2018613	2018614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:2018613_2018614insC	ENST00000569714.1	+	4	433_434	c.425_426insC	c.(424-429)tgccccfs	p.CP142fs	RNF151_ENST00000321392.3_Frame_Shift_Ins_p.CP141fs|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	142					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CAGCAGCGCTGCCCCCTGGGCT	0.728																																						uc002cnt.1																			0				kidney(1)|lung(1)	2						c.(424-426)tgcfs		Homo sapiens ring finger protein 151 (RNF151), mRNA.																																				SO:0001589	frameshift_variant	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018613_2018614insC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"""RING-type (C3HC4) zinc fingers"""	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.430dupC	16.37:g.2018618_2018618dupC	ENSP00000456566:p.Cys142fs					TCRBV20S1_uc021tak.1_Intron	p.C142fs	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN			3	433_434	+			142					Q8NHS5	Frame_Shift_Ins	INS	ENST00000569714.1	37	c.425_426insC	CCDS58405.1																																																																																				0.728	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903	
ITGAX	3687	broad.mit.edu	37	16	31392315	31392315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:31392315C>T	ENST00000268296.4	+	29	3495	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1125V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1125					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCACAGCGGTACTGTAC	0.542																																						uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3373-3375)gCg>gTg		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							127.0	92.0	104.0					16																	31392315		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31392315C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3374C>T	16.37:g.31392315C>T	ENSP00000268296:p.Ala1125Val					ITGAX_uc002ebu.1_Missense_Mutation_p.A1125V	p.A1125V	NM_000887	NP_000878	P20702	ITAX_HUMAN			28	3441	+			1125					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3374C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427378	0.25726	.	.	ENSG00000140678	ENST00000268296	T	0.50813	0.73	4.18	3.22	0.36961	.	.	.	.	.	T	0.39545	0.1082	L	0.49571	1.57	0.19575	N	0.999966	D;P	0.69078	0.997;0.94	P;P	0.47075	0.536;0.501	T	0.23619	-1.0183	9	0.02654	T	1	.	8.1453	0.31108	0.0:0.8879:0.0:0.1121	.	1125;310	P20702;Q8TES5	ITAX_HUMAN;.	V	1125	ENSP00000268296:A1125V	ENSP00000268296:A1125V	A	+	2	0	ITGAX	31299816	0.003000	0.15002	0.179000	0.23059	0.063000	0.16089	0.537000	0.23144	1.097000	0.41459	0.585000	0.79938	GCG		0.542	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
SLC16A13	201232	broad.mit.edu	37	17	6941650	6941650	+	Missense_Mutation	SNP	G	G	A	rs139041380		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:6941650G>A	ENST00000308027.6	+	3	831	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	175						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTGCTGCTGGTGTCTGCCCT	0.667																																						uc002geh.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(523-525)Gtg>Atg		Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.							73.0	72.0	72.0					17																	6941650		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941650G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.523G>A	17.37:g.6941650G>A	ENSP00000309751:p.Val175Met						p.V175M	NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN			2	831	+			175					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.523G>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865189	0.71949	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.74	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067062	0.64402	D	0.000012	T	0.44393	0.1291	N	0.25647	0.755	0.41455	D	0.988002	P	0.37548	0.599	B	0.42062	0.374	T	0.49173	-0.8967	10	0.66056	D	0.02	.	12.3551	0.55171	0.0:0.2845:0.7155:0.0	.	175	Q7RTY0	MOT13_HUMAN	M	175	ENSP00000309751:V175M	ENSP00000309751:V175M	V	+	1	0	SLC16A13	6882374	0.978000	0.34361	1.000000	0.80357	0.945000	0.59286	1.876000	0.39588	2.712000	0.92718	0.563000	0.77884	GTG		0.667	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2		
DVL2	1856	broad.mit.edu	37	17	7130543	7130543	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7130543G>A	ENST00000005340.5	-	13	1691	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.P464L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	470	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGCCGCTCAGGAAAGCCCTC	0.577																																						uc002gez.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1408-1410)cCt>cTt		Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.							101.0	103.0	102.0					17																	7130543		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7130543G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1409C>T	17.37:g.7130543G>A	ENSP00000005340:p.Pro470Leu					DVL2_uc010vtr.1_Missense_Mutation_p.P464L	p.P470L	NM_004422	NP_004413	O14641	DVL2_HUMAN			12	1691	-			470			DEP.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1409C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238584	0.39598	.	.	ENSG00000004975	ENST00000005340	T	0.21031	2.03	4.5	4.5	0.54988	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.068649	0.64402	D	0.000010	T	0.07908	0.0198	N	0.02158	-0.66	0.53688	D	0.999973	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.0	T	0.24261	-1.0165	10	0.27082	T	0.32	-11.028	9.8629	0.41125	0.0:0.0:0.7959:0.2041	.	464;470	B4DLQ0;O14641	.;DVL2_HUMAN	L	470	ENSP00000005340:P470L	ENSP00000005340:P470L	P	-	2	0	DVL2	7071267	0.997000	0.39634	0.997000	0.53966	0.993000	0.82548	2.616000	0.46376	2.351000	0.79841	0.591000	0.81541	CCT		0.577	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	G	rs587781525		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577096T>G	ENST00000269305.4	-	8	1031	c.842A>C	c.(841-843)gAc>gCc	p.D281A	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.D281A|TP53_ENST00000359597.4_Missense_Mutation_p.D281A|TP53_ENST00000455263.2_Missense_Mutation_p.D281A	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGTGCGCCGGTCTCTCCCAGG	0.552		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)	uc002gim.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"""		44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.R280T(61)|p.R280K(47)|p.D281E(28)|p.D281N(26)|p.D281G(20)|p.R280G(19)|p.D281H(19)|p.R280S(15)|p.R280I(14)|p.D281Y(11)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(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	CM004343|CM056068	TP53	M		c.(841-843)gAc>gCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							82.0	70.0	74.0					17																	7577096		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.chr17:7577096T>G	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.842A>C	17.37:g.7577096T>G	ENSP00000269305:p.Asp281Ala	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)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149A|TP53_uc010cnf.1_Missense_Mutation_p.D149A|TP53_uc002gii.1_Missense_Mutation_p.D149A|TP53_uc010cni.1_Missense_Mutation_p.D281A|TP53_uc010cnh.1_Missense_Mutation_p.D281A|TP53_uc002gij.2_Missense_Mutation_p.D281A|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281A	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1036	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.842A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846092	0.91277	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.97110	0.992;1.0;0.992;0.988	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	281;281;281;281;281;270;149	ENSP00000352610:D281A;ENSP00000269305:D281A;ENSP00000398846:D281A;ENSP00000391127:D281A;ENSP00000391478:D281A;ENSP00000425104:D149A	ENSP00000269305:D281A	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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)	uc002gim.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"""		86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	p.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)Gga>Aga	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49.0	44.0	46.0					17																	7577142		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.chr17:7577142C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg	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)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G266R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	990	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.796G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CCDC42	146849	broad.mit.edu	37	17	8638499	8638499	+	Missense_Mutation	SNP	G	G	A	rs141089641	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:8638499G>A	ENST00000293845.3	-	6	1014	c.788C>T	c.(787-789)aCg>aTg	p.T263M	CCDC42_ENST00000539522.2_Missense_Mutation_p.T189M	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	263										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGGTTCAGCGTGGCCATCTT	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18409	0.0		0.001	False		,,,				2504	0.0					uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(787-789)aCg>aTg		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	139.0	111.0	121.0		566,788	5.1	0.1	17	dbSNP_134	121	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	CCDC42	NM_001158261.1,NM_144681.2	81,81	0,13,6490	AA,AG,GG		0.1512,0.0,0.1	probably-damaging,probably-damaging	189/243,263/317	8638499	13,12993	2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638499G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.788C>T	17.37:g.8638499G>A	ENSP00000293845:p.Thr263Met					CCDC42_uc002glo.3_Missense_Mutation_p.T189M	p.T263M	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			5	1015	-			263					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.788C>T	CCDS11145.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.0	4.074729	0.76415	0.0	0.001512	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26518	1.85;1.73	5.11	5.11	0.69529	.	0.209940	0.33515	N	0.004829	T	0.40297	0.1111	L	0.54323	1.7	0.34382	D	0.693263	D	0.71674	0.998	P	0.54270	0.747	T	0.52719	-0.8538	10	0.59425	D	0.04	-20.1098	17.4684	0.87639	0.0:0.0:1.0:0.0	.	263	Q96M95	CCD42_HUMAN	M	263;189	ENSP00000293845:T263M;ENSP00000444359:T189M	ENSP00000293845:T263M	T	-	2	0	CCDC42	8579224	0.999000	0.42202	0.134000	0.22075	0.976000	0.68499	4.390000	0.59646	2.666000	0.90696	0.655000	0.94253	ACG		0.587	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681	
SLFN5	162394	broad.mit.edu	37	17	33591324	33591324	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:33591324T>C	ENST00000299977.4	+	4	1409	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	421					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATATTGATTTTTTCTCAAAG	0.418																																						uc002hjf.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1261-1263)Ttt>Ctt		Homo sapiens schlafen family member 5 (SLFN5), mRNA.							98.0	96.0	97.0					17																	33591324		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591324T>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1261T>C	17.37:g.33591324T>C	ENSP00000299977:p.Phe421Leu					SLFN5_uc010wcg.2_Intron	p.F421L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	3	1378	+		Ovarian(249;0.17)	421					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1261T>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457368	0.26161	.	.	ENSG00000166750	ENST00000299977	T	0.01947	4.54	3.33	-0.277	0.12898	.	0.000000	0.39020	N	0.001493	T	0.01976	0.0062	L	0.45744	1.44	0.19300	N	0.999974	B	0.17852	0.024	B	0.12837	0.008	T	0.48468	-0.9033	10	0.16896	T	0.51	.	5.8251	0.18548	0.0:0.3991:0.0:0.6009	.	421	Q08AF3	SLFN5_HUMAN	L	421	ENSP00000299977:F421L	ENSP00000299977:F421L	F	+	1	0	SLFN5	30615437	0.090000	0.21635	0.023000	0.16930	0.950000	0.60333	0.123000	0.15708	-0.185000	0.10550	0.460000	0.39030	TTT		0.418	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
FAM117A	81558	broad.mit.edu	37	17	47788746	47788746	+	Silent	SNP	C	C	T	rs371670103		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:47788746C>T	ENST00000240364.2	-	8	1312	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	FAM117A_ENST00000513602.1_Silent_p.P139P|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	411	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGGGCTGGCCGGGGGAAGGG	0.652																																						uc002ipk.3																			0		p.P411L(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(1231-1233)ccG>ccA		Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	28.0	32.0	30.0		1233	-8.5	0.0	17		30	0,8600		0,0,4300	no	coding-synonymous	FAM117A	NM_030802.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		411/454	47788746	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81558							g.chr17:47788746C>T	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1233G>A	17.37:g.47788746C>T						FAM117A_uc010wlz.2_Silent_p.P139P	p.P411P	NM_030802	NP_110429	Q9C073	F117A_HUMAN			7	1302	-			411			Pro-rich.		B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.1233G>A	CCDS11553.1																																																																																				0.652	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802	
KCTD2	23510	broad.mit.edu	37	17	73049201	73049201	+	Splice_Site	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:73049201G>A	ENST00000322444.6	+	3	546		c.e3+1		KCTD2_ENST00000581589.1_Splice_Site	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2						protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					AACTTCACAAGTAATGTATTT	0.478																																						uc002jmp.3																			0				kidney(1)|lung(2)	3						c.e3+1		Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.							105.0	93.0	97.0					17																	73049201		2203	4300	6503	SO:0001630	splice_region_variant	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73049201G>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.540+1G>A	17.37:g.73049201G>A						KCTD2_uc010dfz.3_Splice_Site|KCTD2_uc002jmq.3_Splice_Site	p.Q180_splice	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			3	607	+	all_lung(278;0.226)		180						Splice_Site	SNP	ENST00000322444.6	37	c.540_splice	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826892	0.90955	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7736	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCTD2	70560796	1.000000	0.71417	0.945000	0.38365	0.948000	0.59901	9.391000	0.97249	2.668000	0.90789	0.655000	0.94253	.		0.478	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1		Intron
NFIX	4784	broad.mit.edu	37	19	13184252	13184252	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:13184252G>A	ENST00000592199.1	+	4	639	c.639G>A	c.(637-639)caG>caA	p.Q213Q	NFIX_ENST00000585575.1_Silent_p.Q205Q|NFIX_ENST00000397661.2_Silent_p.Q213Q|NFIX_ENST00000587760.1_Silent_p.Q205Q|NFIX_ENST00000360105.4_Silent_p.Q216Q|NFIX_ENST00000587260.1_Silent_p.Q212Q|NFIX_ENST00000588228.1_Silent_p.Q166Q|NFIX_ENST00000588680.1_3'UTR|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000358552.3_Silent_p.Q212Q			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	213					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGTTTCCAGGACTGTTTTG	0.522																																						uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(661-663)caG>caA		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.							135.0	128.0	130.0					19																	13184252		1928	4141	6069	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184252G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.639G>A	19.37:g.13184252G>A						NFIX_uc002mwd.3_Silent_p.Q213Q|NFIX_uc002mwe.3_Silent_p.Q205Q|NFIX_uc002mwf.3_Silent_p.Q216Q|NFIX_uc002mwg.2_Silent_p.Q212Q	p.Q221Q			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		3	716	+			213					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.663G>A																																																																																					0.522	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
CYP4F3	4051	broad.mit.edu	37	19	15758051	15758051	+	Missense_Mutation	SNP	C	C	T	rs149124841	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:15758051C>T	ENST00000221307.8	+	5	489	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CYP4F3_ENST00000586182.2_Missense_Mutation_p.R148C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R148C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R148C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	148					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCCGCCACCGTCGGATGCT	0.567																																						uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(442-444)Cgt>Tgt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405		0,1,2202	72.0	75.0	74.0		442,442,442	2.3	0.9	19	dbSNP_134	74	9,8591		0,9,4291	no	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	180,180,180	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	probably-damaging,probably-damaging,probably-damaging	148/521,148/521,148/521	15758051	10,12996	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758051C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.442C>T	19.37:g.15758051C>T	ENSP00000221307:p.Arg148Cys					CYP4F3_uc010xol.2_Missense_Mutation_p.R148C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R148C|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R148C|CYP4F3_uc010xon.2_5'Flank	p.R148C	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			4	492	+			148					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.442C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	16.98	3.270621	0.59540	2.27E-4	0.001047	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.92911	-3.13	3.4	2.3	0.28687	.	0.082868	0.47852	U	0.000210	D	0.97192	0.9082	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95966	0.8966	10	0.87932	D	0	.	9.2176	0.37358	0.2184:0.7816:0.0:0.0	.	148;148	B7Z8Z3;Q08477	.;CP4F3_HUMAN	C	75;148	ENSP00000221307:R148C	ENSP00000221307:R148C	R	+	1	0	CYP4F3	15619051	1.000000	0.71417	0.889000	0.34880	0.976000	0.68499	2.970000	0.49240	0.561000	0.29186	0.436000	0.28706	CGT		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
MYO9B	4650	broad.mit.edu	37	19	17309077	17309077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:17309077C>T	ENST00000594824.1	+	24	4345	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S	MYO9B_ENST00000397274.2_Missense_Mutation_p.P1400S|MYO9B_ENST00000595618.1_Missense_Mutation_p.P1400S			Q13459	MYO9B_HUMAN	myosin IXB	1400	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATCCTCCCTCCCAGACGCAGG	0.622																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4198-4200)Cca>Tca		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							62.0	75.0	71.0					19																	17309077		2008	4166	6174	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17309077C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4198C>T	19.37:g.17309077C>T	ENSP00000471367:p.Pro1400Ser					MYO9B_uc002nfi.3_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	p.P1400S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			23	4350	+			1400			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4198C>T		.	.	.	.	.	.	.	.	.	.	C	5.854	0.341772	0.11069	.	.	ENSG00000099331	ENST00000397274	D	0.83591	-1.74	4.74	-6.35	0.01975	.	1.076460	0.07285	N	0.871412	T	0.64023	0.2561	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47509	-0.9112	10	0.21540	T	0.41	.	4.0971	0.09996	0.2378:0.2595:0.4135:0.0892	.	1400;1400;1406	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1400	ENSP00000380444:P1400S	ENSP00000380444:P1400S	P	+	1	0	MYO9B	17170077	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.790000	0.04604	-0.924000	0.03780	0.491000	0.48974	CCA		0.622	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
ZNF492	57615	broad.mit.edu	37	19	22847727	22847727	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22847727A>C	ENST00000456783.2	+	4	1500	c.1256A>C	c.(1255-1257)aAa>aCa	p.K419T	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTGGAGAGAAACCCTACAAA	0.368																																						uc002nqw.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1255-1257)aAa>aCa		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.							33.0	35.0	34.0					19																	22847727		2095	4232	6327	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847727A>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1256A>C	19.37:g.22847727A>C	ENSP00000413660:p.Lys419Thr						p.K419T	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	1500	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	419					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1256A>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.678305	0.29783	.	.	ENSG00000229676	ENST00000456783	T	0.24908	1.83	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46229	0.1382	M	0.78637	2.42	0.27220	N	0.959697	D	0.89917	1.0	D	0.97110	1.0	T	0.24584	-1.0156	9	0.72032	D	0.01	.	5.8144	0.18484	1.0:0.0:0.0:0.0	.	419	Q9P255	ZN492_HUMAN	T	419	ENSP00000413660:K419T	ENSP00000413660:K419T	K	+	2	0	ZNF492	22639567	0.028000	0.19301	0.094000	0.20943	0.094000	0.18550	-0.255000	0.08769	0.231000	0.21079	0.228000	0.17796	AAA		0.368	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF99	7652	broad.mit.edu	37	19	22941405	22941405	+	Missense_Mutation	SNP	G	G	A	rs180729554		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22941405G>A	ENST00000596209.1	-	4	1396	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	ZNF99_ENST00000397104.3_Missense_Mutation_p.R345C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAACGCTTAAAAGCT	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		20122	0.001		0.0	False		,,,				2504	0.0					uc021urt.1																			0		p.H436Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1306-1308)Cgt>Tgt		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.		G	CYS/ARG	2,4078		0,2,2038	56.0	58.0	57.0		1033	-2.5	0.0	19		57	1,8435		0,1,4217	no	missense	ZNF99	NM_001080409.2	180	0,3,6255	AA,AG,GG		0.0119,0.049,0.024	probably-damaging	345/912	22941405	3,12513	2040	4218	6258	SO:0001583	missense	7652							g.chr19:22941405G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1306C>T	19.37:g.22941405G>A	ENSP00000472969:p.Arg436Cys						p.R436C	NM_001080409	NP_001073878					3	1461	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1306C>T	CCDS59369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	11.65	1.700953	0.30142	4.9E-4	1.19E-4	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36413	0.0966	L	0.61387	1.9	0.09310	N	1	D	0.62365	0.991	P	0.49421	0.61	T	0.23940	-1.0174	9	0.40728	T	0.16	.	5.3028	0.15788	0.6711:0.0:0.3289:0.0	.	345	A8MXY4	ZNF99_HUMAN	C	345	ENSP00000380293:R345C	ENSP00000380293:R345C	R	-	1	0	ZNF99	22733245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.253000	0.00074	-0.767000	0.04633	-0.512000	0.04463	CGT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	A	rs201482323		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:49852054G>A	ENST00000311227.2	-	8	731	c.641C>T	c.(640-642)tCg>tTg	p.S214L	TEAD2_ENST00000539846.1_Missense_Mutation_p.S86L|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Missense_Mutation_p.S218L|TEAD2_ENST00000593945.1_Missense_Mutation_p.S218L|TEAD2_ENST00000601519.1_Missense_Mutation_p.S217L|TEAD2_ENST00000377214.4_Missense_Mutation_p.S217L	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572																																						uc002pnh.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(652-654)tCg>tTg		Homo sapiens TEA domain family member 2 (TEAD2), mRNA.		G	LEU/SER	1,4363		0,1,2181	16.0	19.0	18.0		641	5.7	1.0	19		18	1,8521		0,1,4260	yes	missense	TEAD2	NM_003598.1	145	0,2,6441	AA,AG,GG		0.0117,0.0229,0.0155	possibly-damaging	214/448	49852054	2,12884	2182	4261	6443	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49852054G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.641C>T	19.37:g.49852054G>A	ENSP00000310701:p.Ser214Leu					TEAD2_uc002png.3_Missense_Mutation_p.S217L|TEAD2_uc002pni.3_Missense_Mutation_p.S217L|TEAD2_uc002pnj.3_Missense_Mutation_p.S214L|TEAD2_uc010yao.2_Missense_Mutation_p.S86L|TEAD2_uc010emw.3_Missense_Mutation_p.S217L	p.S218L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	759	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	214			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.653C>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407897	0.42715	2.29E-4	1.17E-4	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.27557	1.66;1.66;1.66	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000035	T	0.16514	0.0397	N	0.16368	0.405	0.46701	D	0.999168	P;B;P	0.47604	0.898;0.126;0.898	B;B;B	0.31946	0.138;0.054;0.138	T	0.03148	-1.1067	10	0.51188	T	0.08	-13.5768	13.379	0.60757	0.0:0.1578:0.8422:0.0	.	86;214;217	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	214;217;86	ENSP00000310701:S214L;ENSP00000366419:S217L;ENSP00000437928:S86L	ENSP00000310701:S214L	S	-	2	0	TEAD2	54543866	0.800000	0.28916	0.977000	0.42913	0.472000	0.32918	3.816000	0.55658	2.882000	0.98803	0.655000	0.94253	TCG		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
SHANK1	50944	broad.mit.edu	37	19	51205802	51205802	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:51205802G>A	ENST00000293441.1	-	11	1687	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R557C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R557C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	557	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGAAGGAGCGTCCGGGTACC	0.701																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1669-1671)Cgc>Tgc		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							52.0	40.0	44.0					19																	51205802		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205802G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1669C>T	19.37:g.51205802G>A	ENSP00000293441:p.Arg557Cys						p.R557C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1688	-		all_neural(266;0.057)	557			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1669C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	16.83	3.231175	0.58777	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14391	2.51;2.51;2.51	3.55	3.55	0.40652	Src homology-3 domain (3);	0.000000	0.64402	U	0.000005	T	0.33673	0.0871	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.16247	-1.0409	10	0.87932	D	0	-18.4058	15.0802	0.72108	0.0:0.0:1.0:0.0	.	557	Q9Y566	SHAN1_HUMAN	C	557	ENSP00000293441:R557C;ENSP00000351984:R557C;ENSP00000375690:R557C	ENSP00000293441:R557C	R	-	1	0	SHANK1	55897614	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	3.548000	0.53670	2.286000	0.76751	0.555000	0.69702	CGC		0.701	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
GPR75	10936	broad.mit.edu	37	2	54080319	54080320	+	In_Frame_Ins	INS	-	-	TGCACTAAG			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:54080319_54080320insTGCACTAAG	ENST00000394705.2	-	2	1844_1845	c.1574_1575insCTTAGTGCA	c.(1573-1575)cag>caCTTAGTGCAg	p.524_525insHLV	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	524					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCATATTCCTGCACTAAGTC	0.411																																						uc021vhn.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1573-1575)cag>caCTTAGTGCAg		Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.																																				SO:0001652	inframe_insertion	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080319_54080320insTGCACTAAG	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1566_1574dupCTTAGTGCA	2.37:g.54080320_54080328dupTGCACTAAG	ENSP00000378195:p.Val524_Gln525insHisLeuVal					GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_In_Frame_Ins_p.524_525insHLV	p.524_525insHLV	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		0	1574_1575	-			524					B2RC02|Q6NWR2	In_Frame_Ins	INS	ENST00000394705.2	37	c.1574_1575insCTTAGTGCA	CCDS1849.1																																																																																				0.411	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2		
CEP68	23177	broad.mit.edu	37	2	65309696	65309696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:65309696G>A	ENST00000377990.2	+	6	2334	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	CEP68_ENST00000546106.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.A574T	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	711					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGAGGATCGCAAAGCAGTC	0.463																																						uc002sdl.4																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2131-2133)Gca>Aca		Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.							149.0	137.0	141.0					2																	65309696		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65309696G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2131G>A	2.37:g.65309696G>A	ENSP00000367229:p.Ala711Thr					CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.A574T|CEP68_uc010yqc.2_Missense_Mutation_p.A711T	p.A711T	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			5	2345	+			711					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.2131G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440844	0.63067	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.79845	-1.31;-1.31	5.73	3.7	0.42460	.	0.377447	0.23793	N	0.044505	T	0.76104	0.3941	L	0.36672	1.1	0.18873	N	0.999985	D;D	0.55605	0.972;0.972	P;P	0.47626	0.552;0.552	T	0.68591	-0.5368	10	0.46703	T	0.11	-5.1443	12.9178	0.58214	0.0:0.0:0.4544:0.5456	.	711;574	Q76N32;Q76N32-2	CEP68_HUMAN;.	T	711;574	ENSP00000367229:A711T;ENSP00000260569:A574T	ENSP00000260569:A574T	A	+	1	0	CEP68	65163200	0.011000	0.17503	0.024000	0.17045	0.680000	0.39746	1.015000	0.29963	1.276000	0.44395	0.561000	0.74099	GCA		0.463	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
TTN	7273	broad.mit.edu	37	2	179589211	179589211	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179589211G>A	ENST00000591111.1	-	70	20164	c.19940C>T	c.(19939-19941)aCg>aTg	p.T6647M	TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T5720M|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T6964M|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12249	Ig-like 48.				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)			CAGAGTGCACGTTTCTCCTAC	0.478																																						uc021vsy.1																			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.(17158-17160)aCg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							77.0	73.0	75.0					2																	179589211		1993	4160	6153	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589211G>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.19940C>T	2.37:g.179589211G>A	ENSP00000465570:p.Thr6647Met					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	p.T5720M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17384	-			6647			Ig-like 38.		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.17159C>T		.	.	.	.	.	.	.	.	.	.	G	11.61	1.691172	0.30052	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	6.02	4.25	0.50352	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44286	0.1286	M	0.62209	1.925	0.80722	D	1	B	0.23490	0.086	B	0.22386	0.039	T	0.41378	-0.9512	9	0.87932	D	0	.	8.9621	0.35854	0.2746:0.0:0.7254:0.0	.	6647	Q8WZ42	TITIN_HUMAN	M	5720	ENSP00000343764:T5720M	ENSP00000343764:T5720M	T	-	2	0	TTN	179297456	0.992000	0.36948	0.726000	0.30738	0.905000	0.53344	3.330000	0.52068	0.904000	0.36572	-0.136000	0.14681	ACG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179637967	179637967	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179637967C>A	ENST00000591111.1	-	33	7948	c.7724G>T	c.(7723-7725)aGt>aTt	p.S2575I	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2529I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S2575I|TTN_ENST00000460472.2_Missense_Mutation_p.S2529I|TTN_ENST00000360870.5_Missense_Mutation_p.S2575I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S2575I|TTN_ENST00000359218.5_Missense_Mutation_p.S2529I			Q8WZ42	TITIN_HUMAN	titin	12898					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)			ATATTTAGAACTGGGCTTGAT	0.353																																						uc021vsy.1																			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.(7723-7725)aGt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							42.0	44.0	43.0					2																	179637967		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637967C>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.7724G>T	2.37:g.179637967C>A	ENSP00000465570:p.Ser2575Ile					TTN_uc021vsz.1_Missense_Mutation_p.S2529I|TTN_uc021vta.1_Missense_Mutation_p.S2529I|TTN_uc021vtb.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	p.S2575I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		32	7949	-			2575					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.7724G>T		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680688	0.14907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.68	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52789	0.1756	M	0.84082	2.675	0.25942	N	0.98285	P;P;P;B;P	0.36909	0.457;0.457;0.457;0.188;0.573	B;B;B;B;B	0.36666	0.17;0.17;0.17;0.17;0.23	T	0.51450	-0.8704	9	0.87932	D	0	.	11.714	0.51641	0.0:0.8092:0.1239:0.0669	.	2529;2529;2529;2575;2575	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2575;2529;2529;2529;2529;2575	ENSP00000343764:S2575I;ENSP00000434586:S2529I;ENSP00000340554:S2529I;ENSP00000352154:S2529I;ENSP00000354117:S2575I	ENSP00000340554:S2529I	S	-	2	0	TTN	179346212	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	3.361000	0.52306	0.757000	0.33036	0.650000	0.86243	AGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179701794	179701794	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179701794C>T	ENST00000420890.2	-	23	4269	c.4152G>A	c.(4150-4152)agG>agA	p.R1384R	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.R809R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1384										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAACCATTTGCCTCTGATAGC	0.493																																						uc002une.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4150-4152)agG>agA		Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.							48.0	51.0	50.0					2																	179701794		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179701794C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4152G>A	2.37:g.179701794C>T						CCDC141_uc002unf.1_Silent_p.R863R	p.R1384R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		22	4270	-			809					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.4152G>A																																																																																					0.493	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
C2orf88	84281	broad.mit.edu	37	2	190788411	190788411	+	Intron	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:190788411G>A	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GACTTTCAACGGGACTATTAT	0.512																																																									0																																																	SO:0001627	intron_variant	0							g.chr2:190788411G>A	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43858G>A	2.37:g.190788411G>A						PMS1 (46056 upstream) : MSTN (132015 downstream)																		D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000478197.1	37																																																																																						0.512	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321	
MPP4	58538	broad.mit.edu	37	2	202557686	202557686	+	Missense_Mutation	SNP	C	C	A	rs188975951	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:202557686C>A	ENST00000409474.3	-	3	353	c.146G>T	c.(145-147)gGa>gTa	p.G49V	MPP4_ENST00000359962.5_Missense_Mutation_p.G49V|MPP4_ENST00000396886.3_Missense_Mutation_p.G49V|MPP4_ENST00000315506.7_Missense_Mutation_p.G49V|MPP4_ENST00000428900.2_Missense_Mutation_p.G49V|MPP4_ENST00000447335.2_Missense_Mutation_p.G49V|MPP4_ENST00000409143.1_Missense_Mutation_p.G49V	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	49	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GAGACACACTCCATTCACATC	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		20019	0.0		0.003	False		,,,				2504	0.0					uc002uyk.4																			0				kidney(1)|lung(11)	12						c.(145-147)gGa>gTa		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							74.0	76.0	75.0					2																	202557686		2020	4191	6211	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202557686C>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.146G>T	2.37:g.202557686C>A	ENSP00000387278:p.Gly49Val					MPP4_uc010ftj.3_Missense_Mutation_p.G49V|MPP4_uc010zhq.2_Missense_Mutation_p.G49V|MPP4_uc010zht.2_Missense_Mutation_p.G49V|MPP4_uc010zhr.2_Missense_Mutation_p.G49V|MPP4_uc010zhs.2_Missense_Mutation_p.G49V|MPP4_uc002uyj.4_Missense_Mutation_p.G49V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.3_Missense_Mutation_p.G49V	p.G49V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			2	354	-			49			L27 1.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.146G>T	CCDS46491.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	15.96	2.986118	0.53934	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.08984	3.41;3.39;3.41;3.35;3.03;3.38	5.12	5.12	0.69794	L27 (2);	0.166538	0.39985	N	0.001220	T	0.21550	0.0519	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.979;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.00529	-1.1687	10	0.72032	D	0.01	.	19.1273	0.93390	0.0:1.0:0.0:0.0	.	49;49;49;49;49;49;49;62;49;49	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	V	49	ENSP00000387278:G49V;ENSP00000319363:G49V;ENSP00000353047:G49V;ENSP00000416781:G49V;ENSP00000387293:G49V;ENSP00000406160:G49V	ENSP00000319363:G49V	G	-	2	0	MPP4	202265931	1.000000	0.71417	0.156000	0.22583	0.059000	0.15707	6.315000	0.72853	2.837000	0.97791	0.655000	0.94253	GGA		0.547	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
DIS3L2	129563	broad.mit.edu	37	2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233028324G>T	ENST00000409307.1	+	8	1106	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_ENST00000273009.6_Missense_Mutation_p.S369I|DIS3L2_ENST00000325385.7_Missense_Mutation_p.S369I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433																																						uc010fxz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1105-1107)aGc>aTc		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.							61.0	61.0	61.0					2																	233028324		1873	4102	5975	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233028324G>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1106G>T	2.37:g.233028324G>T	ENSP00000386799:p.Ser369Ile					DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	p.S369I	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	8	1382	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	369						Missense_Mutation	SNP	ENST00000409307.1	37	c.1106G>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880905	0.51801	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.44482	1.51;0.92;0.92;0.92	5.06	-3.92	0.04155	.	1.026250	0.07686	N	0.937991	T	0.32704	0.0838	L	0.48642	1.525	0.09310	N	0.999999	B	0.14012	0.009	B	0.20184	0.028	T	0.39292	-0.9621	10	0.35671	T	0.21	-3.0448	8.524	0.33293	0.3008:0.4612:0.238:0.0	.	369	Q8IYB7	DI3L2_HUMAN	I	369;369;369;369;369;4	ENSP00000273009:S369I;ENSP00000315569:S369I;ENSP00000386799:S369I;ENSP00000415419:S4I	ENSP00000273009:S369I	S	+	2	0	DIS3L2	232736568	0.000000	0.05858	0.978000	0.43139	0.994000	0.84299	-0.331000	0.07914	-0.372000	0.07992	0.557000	0.71058	AGC		0.433	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
NEU2	4759	broad.mit.edu	37	2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233897493G>A	ENST00000233840.3	+	1	112	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	38					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCTGGCCTTCGCGGAACAGCG	0.622																																						uc010zmn.2																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(112-114)Gcg>Acg		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.							78.0	66.0	70.0					2																	233897493		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233897493G>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.112G>A	2.37:g.233897493G>A	ENSP00000233840:p.Ala38Thr						p.A38T	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	0	112	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	38					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.112G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324521	0.60634	.	.	ENSG00000115488	ENST00000233840	D	0.88201	-2.35	5.39	5.39	0.77823	Neuraminidase (2);	0.584188	0.16139	N	0.227805	D	0.95118	0.8418	M	0.89414	3.03	0.41399	D	0.987661	D	0.89917	1.0	D	0.69479	0.964	D	0.94022	0.7293	10	0.30854	T	0.27	-15.2221	18.1403	0.89637	0.0:0.0:1.0:0.0	.	38	Q9Y3R4	NEUR2_HUMAN	T	38	ENSP00000233840:A38T	ENSP00000233840:A38T	A	+	1	0	NEU2	233605737	0.499000	0.26083	0.041000	0.18516	0.039000	0.13416	2.511000	0.45476	2.496000	0.84212	0.591000	0.81541	GCG		0.622	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
DGKD	8527	broad.mit.edu	37	2	234358633	234358633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:234358633G>A	ENST00000264057.2	+	16	1906	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	DGKD_ENST00000409813.3_Missense_Mutation_p.D588N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	632					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACAGCTGTCGATGAGCAGAA	0.642																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1894-1896)Gat>Aat		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						53.0	46.0	49.0					2																	234358633		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234358633G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1894G>A	2.37:g.234358633G>A	ENSP00000264057:p.Asp632Asn					DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_Non-coding_Transcript	p.D632N	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	15	1906	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	632					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1894G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019005	0.93462	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.84370	-1.7;-1.84	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	D	0.91660	0.7364	M	0.76727	2.345	0.58432	D	0.999998	D;D;D	0.89917	0.991;1.0;0.999	P;D;P	0.87578	0.735;0.998;0.895	D	0.92284	0.5836	10	0.52906	T	0.07	.	16.6629	0.85245	0.0:0.0:1.0:0.0	.	516;588;632	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	N	632;588	ENSP00000264057:D632N;ENSP00000386455:D588N	ENSP00000264057:D632N	D	+	1	0	DGKD	234023372	1.000000	0.71417	0.807000	0.32361	0.930000	0.56654	9.031000	0.93731	2.245000	0.73994	0.655000	0.94253	GAT		0.642	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						uc010ztl.1																			0		p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(43-45)ggC>ggG		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001819	synonymous_variant	284802							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G						FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron	p.G15G							1	77	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.45C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FOXS1	2307	broad.mit.edu	37	20	30432906	30432906	+	Missense_Mutation	SNP	G	G	A	rs377408084	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:30432906G>A	ENST00000375978.3	-	1	514	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	147					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGCCGGTCGTGGCGTTGGG	0.687													G|||	2	0.000399361	0.0	0.0	5008	,	,		13636	0.0		0.0	False		,,,				2504	0.002					uc002wwt.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(439-441)aCg>aTg		Homo sapiens forkhead box S1 (FOXS1), mRNA.		G	MET/THR	0,4404		0,0,2202	17.0	17.0	17.0		440	-0.1	0.0	20		17	1,8597		0,1,4298	no	missense	FOXS1	NM_004118.3	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	147/331	30432906	1,13001	2202	4299	6501	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432906G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.440C>T	20.37:g.30432906G>A	ENSP00000365145:p.Thr147Met						p.T147M	NM_004118	NP_004109	O43638	FOXS1_HUMAN			0	515	-			147					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.440C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	3.064	-0.192572	0.06259	0.0	1.16E-4	ENSG00000179772	ENST00000375978	D	0.92965	-3.14	4.47	-0.118	0.13547	.	1.038680	0.07708	N	0.941483	D	0.84238	0.5428	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.71543	-0.4561	10	0.48119	T	0.1	.	5.399	0.16284	0.2485:0.2735:0.478:0.0	.	147	O43638	FOXS1_HUMAN	M	147	ENSP00000365145:T147M	ENSP00000365145:T147M	T	-	2	0	FOXS1	29896567	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.046000	0.14035	0.146000	0.19002	0.455000	0.32223	ACG		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118	
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:39802384G>A	ENST00000373271.1	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.E1163K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3487-3489)Gag>Aag		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							130.0	113.0	118.0					20																	39802384		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802384G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3487G>A	20.37:g.39802384G>A	ENSP00000362368:p.Glu1163Lys		OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	p.E1163K	NM_182811	NP_877963	P19174	PLCG1_HUMAN			28	3608	+		Myeloproliferative disorder(115;0.00878)	1163			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3487G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494412	0.96339	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.69685	-0.42;-0.42;-0.42	5.51	5.51	0.81932	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.84082	2.675	0.80722	D	1	P;D;D	0.57257	0.946;0.979;0.957	P;P;P	0.62298	0.839;0.9;0.9	D	0.84894	0.0838	10	0.72032	D	0.01	.	19.4219	0.94725	0.0:0.0:1.0:0.0	.	1163;1163;1163	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	K	1163	ENSP00000244007:E1163K;ENSP00000362368:E1163K;ENSP00000362369:E1163K	ENSP00000244007:E1163K	E	+	1	0	PLCG1	39235798	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.858000	0.99539	2.593000	0.87608	0.455000	0.32223	GAG		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	rs199781597		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	93	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	154.0	134.0	141.0		278	-0.2	0.0	20		141	0,8600		0,0,4300	yes	missense	SEMG1	NM_003007.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		93/463	43836216	2,13004	2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836216C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.278C>T	20.37:g.43836216C>T	ENSP00000361867:p.Thr93Met					SEMG2_uc002xni.2_Missense_Mutation_p.T93M|SEMG2_uc002xnj.2_Missense_Mutation_p.T93M		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766462	0.02974	4.54E-4	0.0	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	1.07	-0.159	0.13379	.	.	.	.	.	T	0.12860	0.0312	L	0.36672	1.1	0.09310	N	1	B;D;P	0.89917	0.421;1.0;0.537	B;D;B	0.73708	0.05;0.981;0.113	T	0.25363	-1.0134	9	0.26408	T	0.33	.	2.9559	0.05876	0.0:0.3585:0.0:0.6415	.	93;93;93	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	M	93	ENSP00000244069:T93M;ENSP00000361867:T93M	ENSP00000244069:T93M	T	+	2	0	SEMG1	43269630	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.915000	0.04033	-0.080000	0.12685	-0.484000	0.04775	ACG		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
COL6A2	1292	broad.mit.edu	37	21	47539015	47539015	+	Silent	SNP	C	C	T	rs61735827	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr21:47539015C>T	ENST00000300527.4	+	14	1355	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R	COL6A2_ENST00000409416.1_Silent_p.R417R|COL6A2_ENST00000397763.1_Silent_p.R417R|COL6A2_ENST00000357838.4_Silent_p.R417R|COL6A2_ENST00000310645.5_Silent_p.R417R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	417	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R417R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662																																						uc002zia.1																			1	Substitution - coding silent(1)	p.R417R(2)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1249-1251)cgC>cgT		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		C	,,	1,4387	2.1+/-5.4	0,1,2193	27.0	26.0	26.0		1251,1251,1251	-9.1	0.0	21	dbSNP_129	26	18,8572	11.2+/-40.8	0,18,4277	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,19,6470	TT,TC,CC		0.2095,0.0228,0.1464	,,	417/1020,417/919,417/829	47539015	19,12959	2194	4295	6489	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47539015C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1251C>T	21.37:g.47539015C>T						COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zhy.1_Silent_p.R417R	p.R417R	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1333	+	Breast(49;0.245)		417			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.1251C>T	CCDS13728.1																																																																																				0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
TRIM71	131405	broad.mit.edu	37	3	32859692	32859692	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:32859692G>A	ENST00000383763.5	+	1	183	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	40	Ser-rich.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGTCCACGTCGTcggggg	0.736																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(118-120)acG>acA		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							14.0	14.0	14.0					3																	32859692		1783	3968	5751	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32859692G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.120G>A	3.37:g.32859692G>A							p.T40T	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			0	183	+			40			Ser-rich.			Silent	SNP	ENST00000383763.5	37	c.120G>A	CCDS43060.1																																																																																				0.736	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
SCAP	22937	broad.mit.edu	37	3	47460316	47460316	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:47460316G>A	ENST00000265565.5	-	14	2370	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	SCAP_ENST00000441517.2_Missense_Mutation_p.P398L|SCAP_ENST00000545718.1_Missense_Mutation_p.P261L|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	653					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATGACGGGCAGCAGGCT	0.706																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1957-1959)cCc>cTc		Homo sapiens SREBF chaperone (SCAP), mRNA.							23.0	22.0	22.0					3																	47460316		2201	4298	6499	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460316G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1958C>T	3.37:g.47460316G>A	ENSP00000265565:p.Pro653Leu					SCAP_uc011baz.1_Missense_Mutation_p.P398L|SCAP_uc003crg.2_Missense_Mutation_p.P261L	p.P653L	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2213	-			653					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1958C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551968	0.86127	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.91068	-2.78;-2.77;-0.66	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.95588	0.8652	10	0.87932	D	0	-13.1361	17.3089	0.87204	0.0:0.0:1.0:0.0	.	398;653	F8W921;Q12770	.;SCAP_HUMAN	L	280;653;398;261	ENSP00000265565:P653L;ENSP00000416847:P398L;ENSP00000438956:P261L	ENSP00000265565:P653L	P	-	2	0	SCAP	47435320	1.000000	0.71417	0.992000	0.48379	0.436000	0.31835	6.344000	0.72991	2.417000	0.82017	0.561000	0.74099	CCC		0.706	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
DENND6A	201627	broad.mit.edu	37	3	57627463	57627463	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:57627463A>G	ENST00000311128.5	-	12	1119	c.1049T>C	c.(1048-1050)aTa>aCa	p.I350T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	350					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TACTCCTAATATAACTGAGGG	0.328																																						uc003dja.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16						c.(1048-1050)aTa>aCa		Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.							95.0	96.0	96.0					3																	57627463		2203	4300	6503	SO:0001583	missense	201627							g.chr3:57627463A>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1049T>C	3.37:g.57627463A>G	ENSP00000311401:p.Ile350Thr						p.I350T	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	11	1120	-			350					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1049T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697423	0.68386	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.35	4.16	0.48862	.	0.087328	0.85682	D	0.000000	T	0.73791	0.3632	M	0.84326	2.69	0.80722	D	1	P	0.51653	0.947	P	0.53401	0.725	T	0.77755	-0.2469	9	0.87932	D	0	-19.3227	12.492	0.55905	0.8601:0.1399:0.0:0.0	.	350	Q8IWF6	F116A_HUMAN	T	350	.	ENSP00000311401:I350T	I	-	2	0	FAM116A	57602503	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.746000	0.91604	0.936000	0.37367	0.528000	0.53228	ATA		0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
SEC61A1	29927	broad.mit.edu	37	3	127784027	127784027	+	Intron	SNP	G	G	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:127784027G>C	ENST00000243253.3	+	8	961				SEC61A1_ENST00000464451.1_Intron|SEC61A1_ENST00000424880.2_Intron|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CAGGTTTCCAGATGAGCTGGA	0.448																																						uc003ekf.3																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26								Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.																																				SO:0001627	intron_variant	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127784027G>C	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.777+147G>C	3.37:g.127784027G>C						SEC61A1_uc003ekb.3_Intron|SEC61A1_uc003ekc.3_Intron|SEC61A1_uc003ekd.3_Intron|SEC61A1_uc003ekg.3_5'UTR		NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	9		-								P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37		CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883994	0.33255	.	.	ENSG00000175792	ENST00000472125	.	.	.	2.59	0.309	0.15820	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	.	3.176	0.06569	0.0:0.1685:0.3253:0.5062	.	.	.	.	V	171	.	.	L	-	1	2	RUVBL1	129266717	0.000000	0.05858	0.000000	0.03702	0.567000	0.35839	-0.564000	0.05936	0.055000	0.16094	0.591000	0.81541	CTG		0.448	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	
TM4SF18	116441	broad.mit.edu	37	3	149051122	149051122	+	Silent	SNP	C	C	A	rs201013430		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:149051122C>A	ENST00000296059.2	-	2	313	c.48G>T	c.(46-48)ccG>ccT	p.P16P	TM4SF18_ENST00000470080.1_Silent_p.P16P|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	16						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGTGCAAGCGGAATCAGCA	0.443																																						uc021xfl.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(46-48)ccG>ccT		Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.							68.0	65.0	66.0					3																	149051122		2203	4300	6503	SO:0001819	synonymous_variant	116441					integral to membrane		g.chr3:149051122C>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.48G>T	3.37:g.149051122C>A						TM4SF18_uc003exa.3_Silent_p.P16P	p.P16P	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		0	138	-			16					B2R8K0|D3DNH5	Silent	SNP	ENST00000296059.2	37	c.48G>T	CCDS3142.1																																																																																				0.443	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786	
AADAC	13	broad.mit.edu	37	3	151532029	151532029	+	Missense_Mutation	SNP	G	G	A	rs530863195		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:151532029G>A	ENST00000232892.7	+	1	205	c.79G>A	c.(79-81)Gtt>Att	p.V27I	AADAC_ENST00000488869.1_Missense_Mutation_p.V27I|RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	27					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCAGATAACGTTGAGGAGCC	0.408																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(79-81)Gtt>Att		Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.							94.0	92.0	93.0					3																	151532029		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151532029G>A	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.79G>A	3.37:g.151532029G>A	ENSP00000232892:p.Val27Ile					MIR548H2_uc021xgb.1_Intron	p.V27I	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		0	169	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	27					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.79G>A	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425399	0.01126	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.10477	3.78;2.87	5.04	-10.1	0.00402	.	0.674836	0.14860	N	0.294172	T	0.01661	0.0053	N	0.00879	-1.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17961	-1.0352	10	0.02654	T	1	-12.0291	7.1144	0.25409	0.4818:0.0:0.2061:0.3122	.	27	P22760	AAAD_HUMAN	I	27	ENSP00000232892:V27I;ENSP00000419620:V27I	ENSP00000232892:V27I	V	+	1	0	AADAC	153014719	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.530000	0.06179	-3.369000	0.00177	-2.095000	0.00367	GTT		0.408	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086	
HTR3E	285242	broad.mit.edu	37	3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:183822631G>A	ENST00000415389.2	+	5	912	c.446G>A	c.(445-447)cGc>cAc	p.R149H	HTR3E_ENST00000436361.2_Missense_Mutation_p.R149H|HTR3E_ENST00000335304.2_Missense_Mutation_p.R164H|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.R134H|HTR3E_ENST00000440596.2_Missense_Mutation_p.R175H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AATGAAGGTCGCATCAGGTAT	0.488																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(523-525)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.							138.0	120.0	126.0					3																	183822631		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822631G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.446G>A	3.37:g.183822631G>A	ENSP00000401444:p.Arg149His					HTR3E_uc010hxq.3_Missense_Mutation_p.R149H|HTR3E_uc003fml.4_Missense_Mutation_p.R134H|HTR3E_uc003fmm.3_Missense_Mutation_p.R164H|HTR3E_uc003fmn.3_Missense_Mutation_p.R149H	p.R175H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	718	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		149					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.524G>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.135454	0.37728	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	3.75	-2.21	0.06973	Neurotransmitter-gated ion-channel ligand-binding (3);	1.899140	0.04305	U	0.348025	T	0.61553	0.2356	N	0.25094	0.71	0.20403	N	0.99991	B;B;B;B;B	0.17038	0.012;0.02;0.016;0.016;0.016	B;B;B;B;B	0.15484	0.013;0.01;0.009;0.009;0.009	T	0.38672	-0.9650	10	0.31617	T	0.26	.	4.3163	0.10995	0.4184:0.0:0.4313:0.1503	.	175;149;149;164;134	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	H	149;134;164;78;149;175	ENSP00000401444:R149H;ENSP00000401900:R134H;ENSP00000335511:R164H;ENSP00000391254:R78H;ENSP00000395833:R149H;ENSP00000406050:R175H	ENSP00000335511:R164H	R	+	2	0	HTR3E	185305325	0.000000	0.05858	0.011000	0.14972	0.985000	0.73830	-1.167000	0.03126	-0.652000	0.05408	-0.189000	0.12847	CGC		0.488	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
ATP13A4	84239	broad.mit.edu	37	3	193158372	193158372	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:193158372G>A	ENST00000342695.4	-	21	2816	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	ATP13A4_ENST00000392443.3_Silent_p.L813L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	832						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTTCCACCAGACTGGACTTC	0.458																																						uc003ftd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2494-2496)Ctg>Ttg		Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.							93.0	92.0	92.0					3																	193158372		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193158372G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2494C>T	3.37:g.193158372G>A						ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.3_Non-coding_Transcript	p.L832L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	20	2602	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		832					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2494C>T	CCDS3304.2																																																																																				0.458	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
ZFYVE28	57732	broad.mit.edu	37	4	2306576	2306576	+	Silent	SNP	G	G	A	rs146596546		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:2306576G>A	ENST00000290974.2	-	8	1830	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.D467D|ZFYVE28_ENST00000515312.1_Silent_p.D427D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	497					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGTCTCTGCGTCATCCGCAC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16031	0.0		0.0	False		,,,				2504	0.0					uc003gex.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1489-1491)gaC>gaT		Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.		G	,,	1,4335		0,1,2167	39.0	39.0	39.0		1401,1281,1491	-3.5	0.0	4	dbSNP_134	39	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	,,	0,2,6408	AA,AG,GG		0.0118,0.0231,0.0156	,,	467/858,427/818,497/888	2306576	2,12818	2168	4242	6410	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306576G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1491C>T	4.37:g.2306576G>A						ZFYVE28_uc011bvk.2_Silent_p.D427D|ZFYVE28_uc011bvl.2_Silent_p.D467D|ZFYVE28_uc003gew.2_Silent_p.D383D	p.D497D	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN			7	1811	-			497					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1491C>T	CCDS33942.1																																																																																				0.672	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371	
SH3TC1	54436	broad.mit.edu	37	4	8230213	8230213	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:8230213G>A	ENST00000245105.3	+	12	2859	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R855Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	931										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGCCGTGCGGCTGTTCTCG	0.701																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2791-2793)cGg>cAg		Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.							24.0	28.0	27.0					4																	8230213		2200	4295	6495	SO:0001583	missense	54436						binding	g.chr4:8230213G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2792G>A	4.37:g.8230213G>A	ENSP00000245105:p.Arg931Gln					SH3TC1_uc003gkw.4_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	p.R931Q	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			11	2893	+			931					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2792G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.895959	0.02472	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.63255	-0.03;-0.03	4.63	-0.0739	0.13733	Tetratricopeptide-like helical (1);	0.678861	0.14890	N	0.292480	T	0.34978	0.0916	N	0.17723	0.515	0.09310	N	1	B	0.19817	0.039	B	0.17433	0.018	T	0.14309	-1.0477	10	0.11485	T	0.65	-14.4757	1.6976	0.02865	0.4943:0.1337:0.2393:0.1327	.	931	Q8TE82	S3TC1_HUMAN	Q	669;931;855;760	ENSP00000245105:R931Q;ENSP00000441045:R855Q	ENSP00000245105:R931Q	R	+	2	0	SH3TC1	8281113	0.974000	0.33945	0.024000	0.17045	0.002000	0.02628	1.358000	0.34102	-0.286000	0.09076	-0.258000	0.10820	CGG		0.701	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
RBM47	54502	broad.mit.edu	37	4	40440789	40440789	+	Missense_Mutation	SNP	C	C	T	rs371872185		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:40440789C>T	ENST00000381793.2	-	3	518	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RBM47_ENST00000514014.1_Missense_Mutation_p.R3H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R41H|RBM47_ENST00000381795.6_Missense_Mutation_p.R41H|RBM47_ENST00000319592.4_Missense_Mutation_p.R41H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	41					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						GTAGCCCGTGCGCTCCATCAG	0.731																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(121-123)cGc>cAc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	2,4320		0,2,2159	12.0	15.0	14.0		122,122	4.1	1.0	4		14	0,8380		0,0,4190	no	missense,missense	RBM47	NM_001098634.1,NM_019027.3	29,29	0,2,6349	TT,TC,CC		0.0,0.0463,0.0157	probably-damaging,probably-damaging	41/594,41/525	40440789	2,12700	2161	4190	6351	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440789C>T	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.122G>A	4.37:g.40440789C>T	ENSP00000371212:p.Arg41His					RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	p.R41H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	832	-			41					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.122G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808996	0.70797	4.63E-4	0.0	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598;ENST00000511902;ENST00000505220	T;T;T;T;T;T;T;T;T;T;T	0.68331	2.26;2.06;2.26;2.06;1.67;1.75;1.7;1.72;1.71;0.3;-0.32	5.78	4.05	0.47172	.	0.093652	0.85682	D	0.000000	T	0.82162	0.4977	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.909;0.962	D	0.85531	0.1209	10	0.87932	D	0	-9.9291	12.8461	0.57831	0.0:0.8658:0.0:0.1342	.	41;41	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	41;41;41;41;3;41;41;41;41;41;41;41;41	ENSP00000320108:R41H;ENSP00000371212:R41H;ENSP00000371214:R41H;ENSP00000295971:R41H;ENSP00000423243:R3H;ENSP00000422564:R41H;ENSP00000421589:R41H;ENSP00000423527:R41H;ENSP00000426542:R41H;ENSP00000423398:R41H;ENSP00000424019:R41H	ENSP00000295971:R41H	R	-	2	0	RBM47	40135546	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.054000	0.71096	1.465000	0.48006	0.313000	0.20887	CGC		0.731	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
CSN3	1448	broad.mit.edu	37	4	71115169	71115169	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:71115169C>T	ENST00000304954.3	+	4	628	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.T181M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413																																						uc003hfe.4																			1	Substitution - Missense(1)	p.T181M(2)	endometrium(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(541-543)aCg>aTg		Homo sapiens casein kappa (CSN3), mRNA.							48.0	48.0	48.0					4																	71115169		2203	4299	6502	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71115169C>T	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.542C>T	4.37:g.71115169C>T	ENSP00000304822:p.Thr181Met						p.T181M	NM_005212	NP_005203	P07498	CASK_HUMAN			3	600	+			181	TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).				B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.542C>T	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	5.454	0.268878	0.10349	.	.	ENSG00000171209	ENST00000304954	T	0.23147	1.92	4.32	-7.81	0.01210	.	3.687830	0.00397	N	0.000054	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.31026	0.304	B	0.23150	0.044	T	0.20974	-1.0259	10	0.72032	D	0.01	-5.124	9.2493	0.37545	0.1071:0.159:0.0:0.7339	.	181	P07498	CASK_HUMAN	M	181	ENSP00000304822:T181M	ENSP00000304822:T181M	T	+	2	0	CSN3	71149758	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.981000	0.00320	-1.990000	0.00978	-0.469000	0.05056	ACG		0.413	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212	
MORF4	10934	broad.mit.edu	37	4	174537295	174537295	+	IGR	SNP	G	G	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:174537295G>T								RP11-475B2.1 (21588 upstream) : RP11-161D15.2 (280249 downstream)																							ATACACCTGGGACATGGGTGC	0.443																																																									0																				160.0	162.0	162.0					4																	174537295		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537295G>T																													4.37:g.174537295G>T						NBLA00301 (30416 upstream) : AK125257 (478516 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.443								
ADAMTS16	170690	broad.mit.edu	37	5	5232628	5232628	+	Splice_Site	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:5232628A>G	ENST00000274181.7	+	12	1987	c.1849A>G	c.(1849-1851)Aag>Gag	p.K617E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	617	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACCAACCCCAAGTAAGTATG	0.527																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.e12+1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							94.0	104.0	101.0					5																	5232628		2168	4277	6445	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232628A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1850+1A>G	5.37:g.5232628A>G						ADAMTS16_uc003jdk.1_Splice_Site_p.K617_splice|ADAMTS16_uc010itk.1_5'Flank	p.K617_splice	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			12	1988	+			617			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1850_splice	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543550	0.27563	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.60299	0.2	5.18	2.66	0.31614	.	0.244133	0.38111	N	0.001804	T	0.37517	0.1006	N	0.17872	0.535	0.28258	N	0.924973	B;B	0.31730	0.285;0.337	B;B	0.35727	0.138;0.209	T	0.35301	-0.9794	10	0.02654	T	1	.	11.2828	0.49206	0.5447:0.4553:0.0:0.0	.	617;617	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	617	ENSP00000274181:K617E	ENSP00000274181:K617E	K	+	1	0	ADAMTS16	5285628	1.000000	0.71417	0.981000	0.43875	0.048000	0.14542	3.080000	0.50112	0.261000	0.21753	0.402000	0.26972	AAG		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Missense_Mutation
TRPC7	57113	broad.mit.edu	37	5	135587388	135587388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:135587388C>T	ENST00000513104.1	-	6	1810	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D449N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D394N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	510					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGCGTGTCGTCCTGCACG	0.602																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1528-1530)Gac>Aac		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							55.0	58.0	57.0					5																	135587388		2157	4259	6416	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135587388C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1528G>A	5.37:g.135587388C>T	ENSP00000426070:p.Asp510Asn					TRPC7_uc010jef.2_Missense_Mutation_p.D446N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.D61N|TRPC7_uc010jeh.2_Missense_Mutation_p.D449N|TRPC7_uc010jei.2_Missense_Mutation_p.D394N	p.D510N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1750	-			510					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1528G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.272|6.272	0.418285|0.418285	0.11870|0.11870	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.77620|.	-0.96;-1.11;-1.05|.	5.21|5.21	4.35|4.35	0.52113|0.52113	Ion transport (1);|.	0.515523|.	0.21943|.	N|.	0.066844|.	T|T	0.09818|0.09818	0.0241|0.0241	N|N	0.01048|0.01048	-1.04|-1.04	0.21064|0.21064	N|N	0.999799|0.999799	B;B;B;B|.	0.15141|.	0.012;0.0;0.001;0.0|.	B;B;B;B|.	0.14023|.	0.01;0.001;0.003;0.003|.	T|T	0.19484|0.19484	-1.0304|-1.0304	10|5	0.14252|.	T|.	0.57|.	-6.0648|-6.0648	10.3658|10.3658	0.44024|0.44024	0.0:0.852:0.0:0.148|0.0:0.852:0.0:0.148	.|.	394;449;455;510|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	N|Q	449;394;510;510|393;448;454	ENSP00000347312:D449N;ENSP00000441628:D394N;ENSP00000426070:D510N|.	ENSP00000265193:D510N|.	D|R	-|-	1|2	0|0	TRPC7|TRPC7	135615287|135615287	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.043000|0.043000	0.13939|0.13939	0.158000|0.158000	0.16422|0.16422	1.454000|1.454000	0.47793|0.47793	-0.127000|-0.127000	0.14921|0.14921	GAC|CGA		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
KIAA0141	9812	broad.mit.edu	37	5	141316857	141316857	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:141316857C>T	ENST00000432126.2	+	11	1378	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	KIAA0141_ENST00000194118.4_Missense_Mutation_p.S415L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	415					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCAGTCAGCCGCTCTG	0.562																																						uc003lls.3																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(1243-1245)tCa>tTa		Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							110.0	112.0	111.0					5																	141316857		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141316857C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1244C>T	5.37:g.141316857C>T	ENSP00000396225:p.Ser415Leu					KIAA0141_uc003llt.3_Missense_Mutation_p.S415L	p.S415L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1366	+		all_hematologic(541;0.118)	415					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.1244C>T	CCDS4268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.206953|3.206953	0.58343|0.58343	.|.	.|.	ENSG00000081791|ENSG00000081791	ENST00000507481|ENST00000432126;ENST00000194118	.|T;T	.|0.52295	.|0.67;0.67	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Tetratricopeptide-like helical (1);	.|0.360587	.|0.25994	.|N	.|0.026985	.|T	.|0.60919	.|0.2306	M|M	0.67953|0.67953	2.075|2.075	0.28558|0.28558	N|N	0.911293|0.911293	.|D	.|0.63880	.|0.993	.|P	.|0.55055	.|0.767	.|T	.|0.61797	.|-0.6989	.|10	.|0.87932	.|D	.|0	-1.7669|-1.7669	15.1108|15.1108	0.72355|0.72355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415	.|Q14154	.|DELE_HUMAN	X|L	117|415	.|ENSP00000396225:S415L;ENSP00000194118:S415L	.|ENSP00000194118:S415L	Q|S	+|+	1|2	0|0	KIAA0141|KIAA0141	141297041|141297041	0.962000|0.962000	0.33011|0.33011	0.971000|0.971000	0.41717|0.41717	0.093000|0.093000	0.18481|0.18481	5.520000|5.520000	0.67080|0.67080	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.562	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773	
SOX30	11063	broad.mit.edu	37	5	157078323	157078323	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:157078323T>G	ENST00000265007.6	-	1	1105	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	SOX30_ENST00000311371.5_Missense_Mutation_p.Q255P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	255					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCTTGCTGGTGCGGCCC	0.642																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(763-765)cAg>cCg		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							44.0	47.0	46.0					5																	157078323		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078323T>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.764A>C	5.37:g.157078323T>G	ENSP00000265007:p.Gln255Pro					SOX30_uc003lxc.1_Missense_Mutation_p.Q255P|SOX30_uc011dds.1_Intron	p.Q255P	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1106	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	255					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.764A>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463743	0.26335	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.25	5.18	4.08	0.47627	.	0.252179	0.27627	N	0.018540	D	0.92463	0.7607	N	0.17082	0.46	0.58432	D	0.999992	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	D	0.88382	0.3002	10	0.18710	T	0.47	.	9.1974	0.37237	0.0:0.0:0.3401:0.6599	.	255;255	O94993-2;O94993	.;SOX30_HUMAN	P	255	ENSP00000309343:Q255P;ENSP00000265007:Q255P	ENSP00000265007:Q255P	Q	-	2	0	SOX30	157010901	0.992000	0.36948	0.998000	0.56505	0.539000	0.34962	1.779000	0.38624	1.960000	0.56953	0.377000	0.23210	CAG		0.642	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
DNAH8	1769	broad.mit.edu	37	6	38709656	38709656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:38709656delT	ENST00000359357.3	+	6	889	c.635delT	c.(634-636)ctgfs	p.L213fs	RN7SL465P_ENST00000468411.2_RNA|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.L213fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L430fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	213					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTCCAAACTGCTAAAGGTA	0.343																																						uc021yzh.1																			0		p.D428N(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1285-1287)ctgfs		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							96.0	89.0	92.0					6																	38709656		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38709656delT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.635delT	6.37:g.38709656delT	ENSP00000352312:p.Leu213fs					DNAH8_uc003ooe.2_Frame_Shift_Del_p.L212fs	p.L429fs	NM_001206927	NP_001193856					7	1395	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.1286delT																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
FILIP1	27145	broad.mit.edu	37	6	76023600	76023600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:76023600C>T	ENST00000237172.7	-	5	2278	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	FILIP1_ENST00000393004.2_Missense_Mutation_p.E650K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E551K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	650										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATCCCCTTCGACCACTTCC	0.418																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1957-1959)Gaa>Aaa		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							256.0	261.0	259.0					6																	76023600		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023600C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1948G>A	6.37:g.76023600C>T	ENSP00000237172:p.Glu650Lys					FILIP1_uc003phy.1_Missense_Mutation_p.E650K|FILIP1_uc003phz.3_Missense_Mutation_p.E551K|FILIP1_uc003pia.3_Missense_Mutation_p.E650K|FILIP1_uc003pib.1_Missense_Mutation_p.E402K	p.E653K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2487	-			650					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1957G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105335	0.77096	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.36157	1.28;1.27;1.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.57271	-0.7840	10	0.44086	T	0.13	-25.9601	19.7897	0.96452	0.0:1.0:0.0:0.0	.	650;650;650	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	650;650;551	ENSP00000376728:E650K;ENSP00000237172:E650K;ENSP00000359037:E551K	ENSP00000237172:E650K	E	-	1	0	FILIP1	76080320	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GAA		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
HTR1B	3351	broad.mit.edu	37	6	78172165	78172165	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:78172165A>C	ENST00000369947.2	-	1	1325	c.956T>G	c.(955-957)aTt>aGt	p.I319S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	319					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGCTCCCAAAATGATCCCTAG	0.507																																						uc003pil.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(955-957)aTt>aGt		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						164.0	161.0	162.0					6																	78172165		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172165A>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.956T>G	6.37:g.78172165A>C	ENSP00000358963:p.Ile319Ser						p.I319S	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	0	956	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	319					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.956T>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931516	0.52866	.	.	ENSG00000135312	ENST00000369947	T	0.43294	0.95	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84040	0.0364	9	.	.	.	.	14.5976	0.68417	1.0:0.0:0.0:0.0	.	319	P28222	5HT1B_HUMAN	S	319	ENSP00000358963:I319S	.	I	-	2	0	HTR1B	78228884	1.000000	0.71417	0.984000	0.44739	0.439000	0.31926	8.995000	0.93534	2.233000	0.73108	0.459000	0.35465	ATT		0.507	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863	
HDAC2	3066	broad.mit.edu	37	6	114266601	114266601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:114266601C>T	ENST00000519065.1	-	10	1392	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	HDAC2_ENST00000519108.1_Missense_Mutation_p.G309E|HDAC2_ENST00000368632.2_Missense_Mutation_p.G309E|HDAC2_ENST00000398283.2_Missense_Mutation_p.G433E			Q92769	HDAC2_HUMAN	histone deacetylase 2	339					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GAAGTCTGGTCCAAAATACTC	0.299																																						uc003pwd.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1015-1017)gGa>gAa		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	Vorinostat(DB02546)						161.0	153.0	155.0					6																	114266601		1814	4074	5888	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114266601C>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1016G>A	6.37:g.114266601C>T	ENSP00000430432:p.Gly339Glu					HDAC2_uc003pwc.2_Missense_Mutation_p.G309E|HDAC2_uc003pwe.2_Missense_Mutation_p.G309E	p.G339E	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1303	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	339					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1016G>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981718	0.74474	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.84	5.84	0.93424	Histone deacetylase domain (1);	0.077332	0.53938	D	0.000049	D	0.94981	0.8376	M	0.90082	3.085	0.58432	D	0.999997	P;D	0.53312	0.663;0.959	P;P	0.54140	0.479;0.743	D	0.95013	0.8153	10	0.87932	D	0	-12.3195	20.563	0.99327	0.0:1.0:0.0:0.0	.	309;339	B3KRS5;Q92769	.;HDAC2_HUMAN	E	339;433;309;309	ENSP00000430432:G339E;ENSP00000381331:G433E;ENSP00000430008:G309E;ENSP00000357621:G309E	ENSP00000357621:G309E	G	-	2	0	HDAC2	114373294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.937000	0.99478	0.650000	0.86243	GGA		0.299	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
SYNE1	23345	broad.mit.edu	37	6	152644693	152644693	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:152644693G>A	ENST00000367255.5	-	82	16438	c.15837C>T	c.(15835-15837)ctC>ctT	p.L5279L	SYNE1_ENST00000448038.1_Silent_p.L5208L|SYNE1_ENST00000265368.4_Silent_p.L5279L|SYNE1_ENST00000423061.1_Silent_p.L5208L|SYNE1_ENST00000341594.5_Silent_p.L4972L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5279					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCATCCTGGAGCATGCTCA	0.567										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15835-15837)ctC>ctT		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							71.0	71.0	71.0					6																	152644693		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152644693G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15837C>T	6.37:g.152644693G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.4_Silent_p.L5208L|SYNE1_uc003qou.4_Silent_p.L5279L|SYNE1_uc010kiz.3_Silent_p.L1034L	p.L5279L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	16060	-		Ovarian(120;0.0955)	5279					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15837C>T	CCDS5236.2																																																																																				0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	broad.mit.edu	37	6	155571053	155571053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:155571053G>A	ENST00000461783.3	+	23	5174	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R	TIAM2_ENST00000528391.2_Missense_Mutation_p.G637R|TIAM2_ENST00000367174.2_Missense_Mutation_p.G677R|TIAM2_ENST00000456877.2_Missense_Mutation_p.G613R|TIAM2_ENST00000318981.5_Missense_Mutation_p.G1301R|TIAM2_ENST00000360366.4_Missense_Mutation_p.G1325R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G1301R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G1301R|TIAM2_ENST00000275246.7_Missense_Mutation_p.G226R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1301					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGGATTATGGGACCGTGTT	0.473																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3901-3903)Ggg>Agg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							135.0	115.0	121.0					6																	155571053		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155571053G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3901G>A	6.37:g.155571053G>A	ENSP00000437188:p.Gly1301Arg					TIAM2_uc003qqe.3_Missense_Mutation_p.G1301R|TIAM2_uc010kjj.3_Missense_Mutation_p.G834R|TIAM2_uc003qqf.3_Missense_Mutation_p.G677R|TIAM2_uc011efl.1_Missense_Mutation_p.G637R|TIAM2_uc003qqg.3_Missense_Mutation_p.G613R|TIAM2_uc003qqh.3_Missense_Mutation_p.G226R	p.G1301R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5174	+		Ovarian(120;0.196)	1301					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3901G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106803	0.94292	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.5	5.5	0.81552	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.68317	2.08	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	T	0.80023	-0.1556	10	0.72032	D	0.01	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	637;1301;1325;1301	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	1301;1547;1301;1301;1301;677;1325;1301;613;637;226	ENSP00000437188:G1301R;ENSP00000434901:G1301R;ENSP00000407746:G1301R;ENSP00000327315:G1301R;ENSP00000356142:G677R;ENSP00000353528:G1325R;ENSP00000433348:G1301R;ENSP00000407183:G613R;ENSP00000435335:G637R;ENSP00000275246:G226R	ENSP00000275246:G226R	G	+	1	0	TIAM2	155612745	1.000000	0.71417	0.834000	0.33040	0.651000	0.38670	9.808000	0.99193	2.594000	0.87642	0.563000	0.77884	GGG		0.473	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
AMZ1	155185	broad.mit.edu	37	7	2740173	2740174	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:2740173_2740174insA	ENST00000312371.4	+	2	456_457	c.88_89insA	c.(88-90)cagfs	p.Q30fs	AMZ1_ENST00000407112.1_Frame_Shift_Ins_p.Q30fs	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	30							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCCTGCAGCAGCTGTATGTG	0.668																																						uc003smr.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(88-90)cagfs		Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.																																				SO:0001589	frameshift_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740173_2740174insA	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.89dupA	7.37:g.2740174_2740174dupA	ENSP00000308149:p.Gln30fs					AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	p.Q30fs	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	1	449_450	+		Ovarian(82;0.0779)	30					B3KRS0|Q8TF51	Frame_Shift_Ins	INS	ENST00000312371.4	37	c.88_89insA	CCDS34589.1																																																																																				0.668	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463	
ZNF727	442319	broad.mit.edu	37	7	63529386	63529386	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:63529386T>G	ENST00000550760.3	+	2	300	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F41V(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CGGAAACCTGTTCTCCTTGGG	0.383																																						uc011kdm.2																			1	Substitution - Missense(1)	p.F41V(2)	endometrium(1)	endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(121-123)Ttc>Gtc		Homo sapiens zinc finger protein 727 (ZNF727), mRNA.							97.0	87.0	90.0					7																	63529386		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63529386T>G			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.121T>G	7.37:g.63529386T>G	ENSP00000447987:p.Phe41Val						p.F41V	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			1	300	+			41			KRAB.			Missense_Mutation	SNP	ENST00000550760.3	37	c.121T>G	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	T	0.370	-0.934798	0.02340	.	.	ENSG00000257482	ENST00000550760	T	0.01287	5.05	0.149	-0.298	0.12814	Krueppel-associated box (4);	.	.	.	.	T	0.00300	0.0009	N	0.00040	-2.495	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42548	-0.9445	8	.	.	.	.	1.4234	0.02317	0.3213:0.0:0.3267:0.3519	.	41	A8MUV8	ZN727_HUMAN	V	41	ENSP00000447987:F41V	.	F	+	1	0	ZNF727	63166821	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-1.012000	0.03649	-1.244000	0.02516	-1.266000	0.01441	TTC		0.383	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
ABCB4	5244	broad.mit.edu	37	7	87060779	87060779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87060779C>T	ENST00000265723.4	-	15	1945	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	ABCB4_ENST00000359206.3_Missense_Mutation_p.G612R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G612R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G612R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G612R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGTGGCTTCCTTGCTCCACA	0.478																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1834-1836)Gga>Aga		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							211.0	180.0	191.0					7																	87060779		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060779C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1834G>A	7.37:g.87060779C>T	ENSP00000265723:p.Gly612Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	p.G612R	NM_018849	NP_061337	P21439	MDR3_HUMAN			14	1910	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		612			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1834G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107811	0.94292	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.049524	0.85682	D	0.000000	D	0.96543	0.8872	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.97106	0.9801	10	0.87932	D	0	-7.4431	19.365	0.94458	0.0:1.0:0.0:0.0	.	612;612;612	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	612	ENSP00000352135:G612R;ENSP00000351172:G612R;ENSP00000265723:G612R;ENSP00000392983:G612R;ENSP00000437465:G612R	ENSP00000265723:G612R	G	-	1	0	ABCB4	86898715	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.766000	0.85320	2.580000	0.87095	0.591000	0.81541	GGA		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
DBF4	10926	broad.mit.edu	37	7	87525787	87525787	+	Splice_Site	SNP	A	A	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87525787A>T	ENST00000265728.1	+	7	1101		c.e7-1			NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger						DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTTTTTTTTAGGGCAAAAGA	0.299																																						uc003ujf.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.e7-2		Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.							59.0	61.0	60.0					7																	87525787		2203	4300	6503	SO:0001630	splice_region_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87525787A>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.598-1A>T	7.37:g.87525787A>T						DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	p.G200_splice	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			7	1102	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	200					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Splice_Site	SNP	ENST00000265728.1	37	c.598_splice	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500952	0.26861	.	.	ENSG00000006634	ENST00000265728	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4922	0.55907	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DBF4	87363723	0.996000	0.38824	0.927000	0.36925	0.254000	0.26022	4.263000	0.58853	2.220000	0.72140	0.482000	0.46254	.		0.299	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Intron
NPTX2	4885	broad.mit.edu	37	7	98256538	98256538	+	Missense_Mutation	SNP	C	C	T	rs377548219		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:98256538C>T	ENST00000265634.3	+	4	1115	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	317	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(949-951)aCg>aTg		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C	MET/THR	0,4406		0,0,2203	96.0	79.0	85.0		950	4.5	0.9	7		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPTX2	NM_002523.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/432	98256538	1,13005	2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256538C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.950C>T	7.37:g.98256538C>T	ENSP00000265634:p.Thr317Met						p.T317M	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1127	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		317			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.950C>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568923	0.86439	0.0	1.16E-4	ENSG00000106236	ENST00000265634	T	0.59638	0.25	5.39	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.043600	0.85682	N	0.000000	T	0.79981	0.4540	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84388	0.0553	10	0.72032	D	0.01	-18.4801	13.2357	0.59969	0.0:0.9235:0.0:0.0765	.	317	P47972	NPTX2_HUMAN	M	317	ENSP00000265634:T317M	ENSP00000265634:T317M	T	+	2	0	NPTX2	98094474	1.000000	0.71417	0.890000	0.34922	0.936000	0.57629	6.047000	0.71038	1.398000	0.46701	0.655000	0.94253	ACG		0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T	rs563719782		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:100187923C>T	ENST00000241071.6	+	3	587	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	89					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0					uc011kjz.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(379-381)Cgc>Tgc		Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.							68.0	57.0	61.0					7																	100187923		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187923C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.265C>T	7.37:g.100187923C>T	ENSP00000241071:p.Arg89Cys					FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	p.R127C	NM_012172	NP_036304	O75426	FBX24_HUMAN			2	447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		89					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.379C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528809	0.64860	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	4.69	3.76	0.43208	F-box domain, Skp2-like (1);	0.096272	0.39615	N	0.001301	T	0.44244	0.1284	N	0.08118	0	0.49051	D	0.999745	D;D;D;D	0.76494	0.996;0.995;0.995;0.999	P;P;P;P	0.56916	0.65;0.549;0.549;0.809	T	0.50841	-0.8780	10	0.87932	D	0	-14.348	10.184	0.42986	0.1974:0.8026:0.0:0.0	.	77;127;89;89	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	C	112;89;89;89;94;77;127	ENSP00000419587:R112C;ENSP00000241071:R89C;ENSP00000353821:R89C;ENSP00000419602:R89C;ENSP00000417179:R94C;ENSP00000420239:R77C;ENSP00000416558:R127C	ENSP00000241071:R89C	R	+	1	0	FBXO24	100025859	0.053000	0.20554	0.830000	0.32933	0.721000	0.41392	0.954000	0.29175	2.439000	0.82584	0.555000	0.69702	CGC		0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
DLD	1738	broad.mit.edu	37	7	107545876	107545876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:107545876G>A	ENST00000205402.5	+	7	790	c.509G>A	c.(508-510)gGc>gAc	p.G170D	DLD_ENST00000537148.1_Missense_Mutation_p.G71D|DLD_ENST00000440410.1_Missense_Mutation_p.G147D|DLD_ENST00000437604.2_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	170					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GCTGATGGCGGCACTCAGGTT	0.358																																						uc003vet.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(508-510)gGc>gAc		Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	NADH(DB00157)						112.0	108.0	110.0					7																	107545876		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107545876G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.509G>A	7.37:g.107545876G>A	ENSP00000205402:p.Gly170Asp					DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.G147D|DLD_uc011kmi.2_Missense_Mutation_p.G71D	p.G170D	NM_000108	NP_000099	P09622	DLDH_HUMAN			6	619	+			170					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.509G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151661	0.57151	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000539590	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.88	5.01	0.66863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.075781	0.85682	D	0.000000	T	0.40791	0.1131	L	0.46614	1.455	0.44268	D	0.997129	B;B	0.23316	0.083;0.012	B;B	0.27170	0.077;0.022	T	0.29397	-1.0013	10	0.56958	D	0.05	-11.9932	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	147;170	E9PEX6;P09622	.;DLDH_HUMAN	D	170;170;71;147;120	ENSP00000205402:G170D;ENSP00000390667:G170D;ENSP00000442399:G71D;ENSP00000417016:G147D	ENSP00000205402:G170D	G	+	2	0	DLD	107333112	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.625000	0.74248	1.504000	0.48704	-0.229000	0.12294	GGC		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:131195806_131195807insG	ENST00000378555.3	-	2	733_734	c.486_487insC	c.(484-489)agcagcfs	p.S163fs	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000541194.1_Frame_Shift_Ins_p.S165fs			O00592	PODXL_HUMAN	podocalyxin-like	163	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535																																						uc003vqw.4																			0		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(484-489)agcagcfs		Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195806_131195807insG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.487dupC	7.37:g.131195807_131195807dupG	ENSP00000367817:p.Ser163fs					PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			1	744_745	-	Melanoma(18;0.162)		162			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.486_487insC	CCDS34755.1																																																																																				0.535	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
SSPO	23145	broad.mit.edu	37	7	149508065	149508065	+	RNA	SNP	G	G	C	rs542098578		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149508065G>C	ENST00000378016.2	+	0	9459							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTACCCCCCGGGCAGCACTG	0.602																																						uc010lpk.3																			0											c.(9448-9450)ccG>ccC		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							46.0	53.0	50.0					7																	149508065		1965	4136	6101			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508065G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508065G>C							p.P3150P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		65	9450	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3153					Q76B61	Silent	SNP	ENST00000378016.2	37	c.9450G>C																																																																																					0.602	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
ACTR3C	653857	broad.mit.edu	37	7	149990455	149990455	+	Silent	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149990455T>C	ENST00000539352.1	-	3	350	c.99A>G	c.(97-99)acA>acG	p.T33T	ACTR3C_ENST00000252071.4_Silent_p.T33T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	33						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T33T(1)									TCCCCGTTAATGTACGTTCAC	0.468																																						uc003wgu.2																			1	Substitution - coding silent(1)	p.T33T(1)	kidney(1)								c.(97-99)acA>acG		Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.							165.0	135.0	144.0					7																	149990455		692	1591	2283	SO:0001819	synonymous_variant	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149990455T>C		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.99A>G	7.37:g.149990455T>C						ACTR3C_uc022aps.1_Silent_p.T33T	p.T33T	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN			2	289	-			33					Q5CZI4	Silent	SNP	ENST00000539352.1	37	c.99A>G	CCDS47744.1																																																																																				0.468	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2		
PKHD1L1	93035	broad.mit.edu	37	8	110476765	110476765	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr8:110476765C>A	ENST00000378402.5	+	49	7808	c.7704C>A	c.(7702-7704)aaC>aaA	p.N2568K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2568					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAACCCGAACAATACCATAC	0.468										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7702-7704)aaC>aaA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							103.0	103.0	103.0					8																	110476765		2037	4194	6231	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476765C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7704C>A	8.37:g.110476765C>A	ENSP00000367655:p.Asn2568Lys	HNSCC(38;0.096)					p.N2568K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7808	+			2568					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7704C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403738	0.42613	.	.	ENSG00000205038	ENST00000378402	D	0.83673	-1.75	5.55	3.42	0.39159	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.85710	2.77	0.31172	N	0.703057	P	0.51351	0.944	P	0.58331	0.837	D	0.87045	0.2143	10	0.56958	D	0.05	.	7.6661	0.28432	0.0:0.7206:0.0:0.2794	.	2568	Q86WI1	PKHL1_HUMAN	K	2568	ENSP00000367655:N2568K	ENSP00000367655:N2568K	N	+	3	2	PKHD1L1	110545941	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	0.987000	0.29603	1.345000	0.45676	0.655000	0.94253	AAC		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
INSL6	11172	broad.mit.edu	37	9	5185586	5185586	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:5185586C>T	ENST00000381641.3	-	1	82	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	6					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CAGGGACAAGCGGAGGAGCCG	0.642																																						uc003zix.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(16-18)cGc>cAc		Homo sapiens insulin-like 6 (INSL6), mRNA.							27.0	26.0	26.0					9																	5185586		2202	4300	6502	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5185586C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.17G>A	9.37:g.5185586C>T	ENSP00000371054:p.Arg6His						p.R6H	NM_007179	NP_009110	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	0	33	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	6					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.17G>A	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228236	0.22542	.	.	ENSG00000120210	ENST00000381641	T	0.49432	0.78	4.25	0.168	0.15012	.	1.268860	0.05303	N	0.523383	T	0.29817	0.0745	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15263	-1.0443	10	0.15499	T	0.54	0.3022	4.7821	0.13208	0.0:0.4612:0.3428:0.196	.	6	Q9Y581	INSL6_HUMAN	H	6	ENSP00000371054:R6H	ENSP00000371054:R6H	R	-	2	0	INSL6	5175586	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.005000	0.03674	0.042000	0.15717	-0.182000	0.12963	CGC		0.642	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
PLIN2	123	broad.mit.edu	37	9	19116616	19116616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:19116616C>T	ENST00000276914.2	-	8	1123	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLIN2_ENST00000411567.1_Missense_Mutation_p.R234H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	315					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTCAGGTTGCGGGCAATTGC	0.463																																						uc003zno.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(943-945)cGc>cAc		Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.							135.0	114.0	121.0					9																	19116616		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116616C>T	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.944G>A	9.37:g.19116616C>T	ENSP00000276914:p.Arg315His					PLIN2_uc011lna.2_Missense_Mutation_p.R287H	p.R315H	NM_001122	NP_001113	Q99541	PLIN2_HUMAN			7	1154	-			315					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.944G>A	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287501	0.40494	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.10382	2.88;2.88	6.0	5.1	0.69264	.	0.240515	0.43260	D	0.000588	T	0.13415	0.0325	L	0.58428	1.81	0.43292	D	0.995273	B	0.18741	0.03	B	0.21917	0.037	T	0.02263	-1.1186	10	0.34782	T	0.22	.	12.9331	0.58299	0.0:0.8729:0.0:0.1271	.	315	Q99541	PLIN2_HUMAN	H	234;315	ENSP00000415270:R234H;ENSP00000276914:R315H	ENSP00000276914:R315H	R	-	2	0	PLIN2	19106616	0.277000	0.24220	0.980000	0.43619	0.649000	0.38597	0.935000	0.28924	2.846000	0.97976	0.650000	0.86243	CGC		0.463	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
SPATA31C1	441452	broad.mit.edu	37	9	90537694	90537694	+	RNA	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90537694C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATGTTTCCCCCTACTCACAA	0.483																																						uc010mqi.3																			0											c.(2872-2874)Cct>Tct		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							3.0	3.0	3.0					9																	90537694		633	1469	2102			441452							g.chr9:90537694C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537694C>T						FAM75C1_uc004apq.4_Missense_Mutation_p.P941S|DQ578031_uc022bjg.1_5'Flank	p.P958S	NM_001145124	NP_001138596					3	2901	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2872C>T																																																																																					0.483	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
SPATA31C2	645961	broad.mit.edu	37	9	90745392	90745392	+	IGR	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90745392C>T								U6 (132142 upstream) : U3 (243791 downstream)																							CTAACAGCCTCCTCCATGAGA	0.527																																						uc011lti.2																			0											c.(2560-2562)Gag>Aag		Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.							36.0	35.0	35.0					9																	90745392		692	1591	2283	SO:0001628	intergenic_variant	645961							g.chr9:90745392C>T																													9.37:g.90745392C>T						DQ587746_uc004apx.1_5'Flank	p.E854K	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN			3	2589	-			854						Missense_Mutation	SNP		37	c.2560G>A																																																																																				0	0.527								
FBP1	2203	broad.mit.edu	37	9	97380089	97380089	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:97380089G>A	ENST00000375326.4	-	3	583	c.387C>T	c.(385-387)tgC>tgT	p.C129C	FBP1_ENST00000415431.1_Silent_p.C129C	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	129					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGGACACAAGGCAATCGATGT	0.388																																					Ovarian(142;590 2466 25593 44496)	uc004auw.4																			0				kidney(1)|liver(1)|lung(1)	3						c.(385-387)tgC>tgT		Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						102.0	85.0	91.0					9																	97380089		2203	4300	6503	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380089G>A	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.387C>T	9.37:g.97380089G>A						FBP1_uc010mrl.3_Silent_p.C129C	p.C129C	NM_000507	NP_001121100	P09467	F16P1_HUMAN			2	718	-		Acute lymphoblastic leukemia(62;0.136)	129					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.387C>T	CCDS6712.1																																																																																				0.388	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507	
BCOR	54880	broad.mit.edu	37	X	39931847	39931847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:39931847G>A	ENST00000378444.4	-	4	2980	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q918*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q918*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Q918*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	918					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGATCCTCTTGGGTTTTACCA	0.527			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2752-2754)Caa>Taa		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							69.0	61.0	63.0					X																	39931847		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39931847G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2752C>T	X.37:g.39931847G>A	ENSP00000367705:p.Gln918*					BCOR_uc004dep.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.4_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.4_Nonsense_Mutation_p.Q918*	p.Q918*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	3044	-			918					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.2752C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	41	9.131115	0.99075	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.61	19.2835	0.94061	0.0:0.0:1.0:0.0	.	.	.	.	X	918;918;918;918;918;325	.	ENSP00000345923:Q918X	Q	-	1	0	BCOR	39816791	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.026000	0.64103	2.506000	0.84524	0.600000	0.82982	CAA		0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
DGKK	139189	broad.mit.edu	37	X	50114831	50114831	+	RNA	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:50114831C>T	ENST00000376025.2	-	0	3562							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGCACTTCTCAGCTGGTACA	0.468																																						uc010njr.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3481-3483)ctG>ctA		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							96.0	85.0	89.0					X																	50114831		1988	4158	6146			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50114831C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114831C>T							p.L1161L	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			26	3527	-	Ovarian(276;0.236)		1168					B2RP91	Silent	SNP	ENST00000376025.2	37	c.3483G>A																																																																																					0.468	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
GLUD2	2747	broad.mit.edu	37	X	120183088	120183088	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:120183088C>A	ENST00000328078.1	+	1	1627	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	517					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATGGAGCGTTCTGCCAGGCAA	0.463																																						uc004eto.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1549-1551)tCt>tAt		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						159.0	121.0	134.0					X																	120183088		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183088C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1550C>A	X.37:g.120183088C>A	ENSP00000327589:p.Ser517Tyr						p.S517Y	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	1627	+			517					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1550C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164399	0.38217	.	.	ENSG00000182890	ENST00000328078	D	0.96459	-4.02	1.46	1.46	0.22682	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.97056	0.9767	10	0.87932	D	0	-1.9536	8.5343	0.33353	0.0:1.0:0.0:0.0	.	517	P49448	DHE4_HUMAN	Y	517	ENSP00000327589:S517Y	ENSP00000327589:S517Y	S	+	2	0	GLUD2	120010769	1.000000	0.71417	0.039000	0.18376	0.084000	0.17831	3.753000	0.55180	1.060000	0.40578	0.182000	0.17080	TCT		0.463	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
