#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SIDT2	51092	broad.mit.edu	37	11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	ENST00000324225.4	+	12	1681	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	384					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1150-1152)Ggt>Agt		SID1 transmembrane family, member 2							98.0	84.0	89.0					11																	117058406		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058406G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1150G>A	11.37:g.117058406G>A	ENSP00000314023:p.Gly384Ser					SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	p.G384S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	12	1681	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	384					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1150G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203917	0.09704	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20598	2.3;2.23;2.06	4.54	-2.79	0.05841	.	0.631387	0.16746	N	0.201237	T	0.10809	0.0264	L	0.28274	0.84	0.27269	N	0.958429	B;B;B;B	0.13594	0.002;0.007;0.008;0.005	B;B;B;B	0.10450	0.002;0.004;0.005;0.001	T	0.41360	-0.9513	10	0.07030	T	0.85	0.3993	11.4117	0.49929	0.5543:0.0:0.4457:0.0	.	384;388;384;384	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	384;384;388	ENSP00000314023:G384S;ENSP00000278951:G384S;ENSP00000399635:G388S	ENSP00000278951:G384S	G	+	1	0	SIDT2	116563616	0.000000	0.05858	0.172000	0.22920	0.690000	0.40134	-0.423000	0.07034	-0.772000	0.04602	0.462000	0.41574	GGT		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		16	81	0	0	0	1	0	16	81				
OR2M5	127059	broad.mit.edu	37	1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	ENST00000366476.1	+	1	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(766-768)Ttg>Atg		olfactory receptor, family 2, subfamily M, member 5							217.0	198.0	204.0					1																	248309215		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309215T>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.766T>A	1.37:g.248309215T>A	ENSP00000355432:p.Leu256Met						p.L256M	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	766	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		256						Missense_Mutation	SNP	ENST00000366476.1	37	c.766T>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	0.007	-2.011014	0.00422	.	.	ENSG00000162727	ENST00000366476	T	0.45276	0.9	3.13	-6.26	0.02033	GPCR, rhodopsin-like superfamily (1);	0.686149	0.10987	U	0.612049	T	0.13157	0.0319	N	0.04820	-0.15	0.09310	N	1	B	0.16802	0.019	B	0.23018	0.043	T	0.21314	-1.0249	10	0.07990	T	0.79	.	1.7427	0.02955	0.2365:0.1862:0.0863:0.491	.	256	A3KFT3	OR2M5_HUMAN	M	256	ENSP00000355432:L256M	ENSP00000355432:L256M	L	+	1	2	OR2M5	246375838	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.032000	0.00084	-2.617000	0.00442	-0.600000	0.04104	TTG		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		82	202	0	0	0	1	0	82	202				
ZNF106	64397	broad.mit.edu	37	15	42734502	42734502	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:42734502A>G	ENST00000263805.4	-	7	3789	c.3463T>C	c.(3463-3465)Ttt>Ctt	p.F1155L	ZNF106_ENST00000565380.1_Missense_Mutation_p.F383L|ZNF106_ENST00000565611.1_Missense_Mutation_p.F340L	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1155					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGTGGGAAAAAGGGAGTGGGC	0.522																																						ENST00000263805.4																			0											c.(3463-3465)Ttt>Ctt		zinc finger protein 106							129.0	121.0	124.0					15																	42734502		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42734502A>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3463T>C	15.37:g.42734502A>G	ENSP00000263805:p.Phe1155Leu					ZNF106_ENST00000565611.1_Missense_Mutation_p.F340L|ZNF106_ENST00000565380.1_Missense_Mutation_p.F383L	p.F1155L	NM_022473.1	NP_071918.1					7	3789	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3463T>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114667	0.37339	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.56103	0.48	5.44	1.91	0.25777	.	0.642064	0.16308	N	0.220159	T	0.22244	0.0536	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.15378	-1.0439	10	0.42905	T	0.14	-5.0294	5.3182	0.15866	0.6478:0.1378:0.2144:0.0	.	383;1155;383	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	L	1155;383	ENSP00000263805:F1155L	ENSP00000263805:F1155L	F	-	1	0	ZFP106	40521794	0.053000	0.20554	0.030000	0.17652	0.872000	0.50106	0.205000	0.17356	0.167000	0.19631	-0.256000	0.11100	TTT		0.522	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		3	111	0	0	0	1	0	3	111				
PHLPP2	23035	broad.mit.edu	37	16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	ENST00000568954.1	-	19	3907	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1110G|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3328-3330)Agg>Ggg		PH domain and leucine rich repeat protein phosphatase 2							74.0	70.0	71.0					16																	71683236		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683236T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3529A>G	16.37:g.71683236T>C	ENSP00000457991:p.Arg1177Gly					PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R1177G	p.R1110G			Q6ZVD8	PHLP2_HUMAN			17	4061	-			1177					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3328A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	3.552	-0.091485	0.07053	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.46819	1.39;0.86	6.03	1.01	0.19927	.	0.269566	0.40222	N	0.001158	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31668	-0.9935	10	0.72032	D	0.01	-4.2487	8.8001	0.34903	0.0:0.0637:0.3629:0.5733	.	1110;1177	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	1177;1110	ENSP00000348611:R1177G;ENSP00000377159:R1110G	ENSP00000348611:R1177G	R	-	1	2	PHLPP2	70240737	0.010000	0.17322	0.012000	0.15200	0.090000	0.18270	0.258000	0.18387	-0.105000	0.12132	-0.291000	0.09656	AGG		0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	108	0	0	0	1	0	3	108				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	84	0	0	0	1	0	3	84				
RAB5C	5878	broad.mit.edu	37	17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	ENST00000346213.4	-	2	339	c.127A>C	c.(127-129)Aag>Cag	p.K43Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000393860.3_Missense_Mutation_p.K43Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	43					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(127-129)Aag>Cag		RAB5C, member RAS oncogene family							98.0	83.0	88.0					17																	40282394		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282394T>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.127A>C	17.37:g.40282394T>G	ENSP00000345689:p.Lys43Gln					CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.K43Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q	p.K43Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	443	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	43					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.127A>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827569	0.71143	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	N	0.03983	-0.305	0.80722	D	1	P;D	0.59357	0.941;0.985	P;D	0.69824	0.807;0.966	T	0.81398	-0.0951	10	0.62326	D	0.03	-24.8243	14.6261	0.68621	0.0:0.0:0.0:1.0	.	76;43	F8W1H5;P51148	.;RAB5C_HUMAN	Q	43;43;76;43;43;43	ENSP00000345689:K43Q;ENSP00000377440:K43Q;ENSP00000447053:K76Q;ENSP00000449612:K43Q;ENSP00000449777:K43Q;ENSP00000448314:K43Q	ENSP00000345689:K43Q	K	-	1	0	RAB5C	37535920	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.868000	0.87116	2.039000	0.60335	0.383000	0.25322	AAG		0.547	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		23	94	0	0	0	1	0	23	94				
RYR2	6262	broad.mit.edu	37	1	237791321	237791321	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	ENST00000366574.2	+	41	6698	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R	RYR2_ENST00000542537.1_Silent_p.R2111R|RYR2_ENST00000360064.6_Silent_p.R2125R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6379-6381)cgG>cgA		ryanodine receptor 2 (cardiac)							107.0	115.0	113.0					1																	237791321		2001	4173	6174	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791321G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6381G>A	1.37:g.237791321G>A						RYR2_ENST00000360064.6_Silent_p.R2125R|RYR2_ENST00000542537.1_Silent_p.R2111R	p.R2127R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6698	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2127			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6381G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	70	0	0	0	1	0	3	70				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	33	0	0	0	1	0	3	33				
SEPSECS	51091	broad.mit.edu	37	4	25125832	25125832	+	Silent	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	ENST00000382103.2	-	11	1299	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_ENST00000302922.3_Silent_p.G330G|SEPSECS_ENST00000515272.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	409					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TTTGCATGGACCCAAGAGGCA	0.388																																						ENST00000382103.2																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(1225-1227)ggG>ggT		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						80.0	75.0	77.0					4																	25125832		2203	4300	6503	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25125832C>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1227G>T	4.37:g.25125832C>A						SEPSECS_ENST00000302922.3_Silent_p.G330G	p.G409G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			11	1299	-		Breast(46;0.173)	409					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.1227G>T	CCDS3432.2																																																																																				0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		7	46	1	0	0.0381472	1	0.0396731	7	46				
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					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)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		zinc finger and BTB domain containing 9							61.0	61.0	61.0					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A							p.E215E	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	97	0	0	0	1	0	3	97				
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14338-14340)cGg>cAg		hemicentin 1							97.0	87.0	91.0					1																	186114607		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114607G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14339G>A	1.37:g.186114607G>A	ENSP00000271588:p.Arg4780Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14568	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14339G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404657	0.96051	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92916	0.6351	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	Q	4780	ENSP00000271588:R4780Q;ENSP00000356462:R4780Q	ENSP00000271588:R4780Q	R	+	2	0	HMCN1	184381230	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.338000	0.96553	2.551000	0.86045	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	50	0	0	0	1	0	25	50				
SIGLEC6	946	broad.mit.edu	37	19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	ENST00000425629.3	-	8	1511	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000346477.3_Nonsense_Mutation_p.K437*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	453					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1309-1311)Aag>Tag		sialic acid binding Ig-like lectin 6							122.0	119.0	120.0					19																	52023341		1968	4144	6112	SO:0001587	stop_gained	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023341T>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1357A>T	19.37:g.52023341T>A	ENSP00000401502:p.Lys453*					CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.K453*	p.K437*	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1377	-		all_neural(266;0.0199)	453					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Nonsense_Mutation	SNP	ENST00000425629.3	37	c.1309A>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501032	0.64298	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	.	.	.	2.45	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4434	0.11586	0.0:0.1683:0.0:0.8317	.	.	.	.	X	426;437;453;401	.	ENSP00000344064:K426X	K	-	1	0	SIGLEC6	56715153	0.005000	0.15991	0.007000	0.13788	0.065000	0.16274	-0.560000	0.05964	0.337000	0.23665	0.496000	0.49642	AAG		0.478	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		8	114	0	0	0	1	0	8	114				
C1orf27	54953	broad.mit.edu	37	1	186359875	186359875	+	Silent	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	ENST00000287859.6	+	7	632	c.507A>G	c.(505-507)caA>caG	p.Q169Q	C1orf27_ENST00000419367.3_Silent_p.Q137Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q|C1orf27_ENST00000367470.3_Silent_p.Q169Q	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	169						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373																																						ENST00000367470.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(505-507)caA>caG		chromosome 1 open reading frame 27							138.0	125.0	129.0					1																	186359875		1873	4117	5990	SO:0001819	synonymous_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186359875A>G	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.507A>G	1.37:g.186359875A>G						C1orf27_ENST00000419367.3_Silent_p.Q137Q|C1orf27_ENST00000287859.6_Silent_p.Q169Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q	p.Q169Q	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN			7	743	+			169					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	37	c.507A>G	CCDS53448.1																																																																																				0.373	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		27	34	0	0	0	1	0	27	34				
AASDH	132949	broad.mit.edu	37	4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	ENST00000205214.6	-	11	2305	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000502617.1_Missense_Mutation_p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2125-2127)Gac>Cac		aminoadipate-semialdehyde dehydrogenase							62.0	64.0	63.0					4																	57215792		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215792C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2125G>C	4.37:g.57215792C>G	ENSP00000205214:p.Asp709His					AASDH_ENST00000502617.1_Missense_Mutation_p.D709H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H	p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	2305	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	709					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2125G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329566	0.24167	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.66280	-0.2;-0.06;2.15;0.34;0.36	5.52	4.66	0.58398	.	0.706131	0.15236	N	0.273175	T	0.71056	0.3295	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.65815	0.995;0.989;0.989;0.98	P;P;P;P	0.57468	0.821;0.799;0.799;0.707	T	0.61357	-0.7079	10	0.37606	T	0.19	-6.7075	10.6796	0.45807	0.0:0.908:0.0:0.092	.	556;709;709;709	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	H	709;609;224;709;556;709	ENSP00000205214:D709H;ENSP00000423760:D609H;ENSP00000392158:D224H;ENSP00000409656:D709H;ENSP00000421171:D709H	ENSP00000205214:D709H	D	-	1	0	AASDH	56910549	0.001000	0.12720	0.007000	0.13788	0.049000	0.14656	0.707000	0.25704	1.496000	0.48567	0.650000	0.86243	GAC		0.378	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	81	0	0	0	1	0	4	81				
PCDHB7	56129	broad.mit.edu	37	5	140553586	140553586	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	ENST00000231137.3	+	1	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1168-1170)ccC>ccT									74.0	75.0	75.0					5																	140553586		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553586C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1170C>T	5.37:g.140553586C>T							p.P390P	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1344	+			390			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1170C>T	CCDS4249.1																																																																																				0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	63	0	0	0	1	0	8	63				
SLCO3A1	28232	broad.mit.edu	37	15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	ENST00000318445.6	+	10	2016	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	601					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GACTCCACCTGCCTGTTCTGG	0.572																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1801-1803)tGc>tAc		solute carrier organic anion transporter family, member 3A1							72.0	58.0	63.0					15																	92706034		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706034G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1802G>A	15.37:g.92706034G>A	ENSP00000320634:p.Cys601Tyr					RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA	p.C601Y	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2016	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		601					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1802G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862017	0.71949	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.78481	-1.18;-1.18	5.65	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.94278	0.7517	10	0.87932	D	0	.	16.7137	0.85392	0.0:0.1293:0.8707:0.0	.	543;601;601	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	Y	601;601;320	ENSP00000320634:C601Y;ENSP00000387846:C601Y	ENSP00000320634:C601Y	C	+	2	0	SLCO3A1	90507038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	1.366000	0.46076	0.655000	0.94253	TGC		0.572	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	90	0	0	0	1	0	4	90				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	199	0	0	0	1	0	4	199				
FHL1	2273	broad.mit.edu	37	X	135288575	135288575	+	5'UTR	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	ENST00000345434.3	+	0	65				FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.S11I|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394153.2_5'UTR			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592																																						ENST00000370683.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(31-33)aGc>aTc		four and a half LIM domains 1							106.0	100.0	102.0					X																	135288575		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288575G>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-17G>T	X.37:g.135288575G>T						FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000345434.3_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394155.2_5'UTR	p.S11I	NM_001159699.1	NP_001153171.1	Q13642	FHL1_HUMAN			2	372	+	Acute lymphoblastic leukemia(192;0.000127)		0					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.32G>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564826	0.45694	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.62232	0.04;0.08;0.24	5.73	4.81	0.61882	.	.	.	.	.	T	0.49115	0.1538	L	0.45352	1.415	0.58432	D	0.999991	B;B	0.18310	0.027;0.007	B;B	0.17722	0.019;0.003	T	0.38156	-0.9674	9	0.13853	T	0.58	.	8.8522	0.35206	0.0799:0.1471:0.773:0.0	.	24;11	B7Z793;B7Z5T4	.;.	I	35;24;11;11;11	ENSP00000437673:S24I;ENSP00000359717:S11I;ENSP00000359710:S11I	ENSP00000359710:S11I	S	+	2	0	FHL1	135116241	1.000000	0.71417	0.777000	0.31699	0.939000	0.58152	3.558000	0.53749	2.396000	0.81511	0.600000	0.82982	AGC		0.592	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		14	251	1	0	3.41278e-10	1	3.77584e-10	14	251				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	118	0	0	0	1	0	3	118				
EXD2	55218	broad.mit.edu	37	14	69707775	69707775	+	Silent	SNP	G	G	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	ENST00000409018.3	+	9	1952	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_ENST00000312994.5_Silent_p.L608L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000409014.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Silent_p.L483L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	608							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1447-1449)ctG>ctC		exonuclease 3'-5' domain containing 2							52.0	47.0	49.0					14																	69707775		2203	4300	6503	SO:0001819	synonymous_variant	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69707775G>C	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1824G>C	14.37:g.69707775G>C						EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|EXD2_ENST00000409018.3_Silent_p.L608L|EXD2_ENST00000409242.1_Silent_p.L483L	p.L483L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			11	2106	+			483					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.1449G>C	CCDS53902.1																																																																																				0.567	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			3	61	0	0	0	1	0	3	61				
SERPINB3	6317	broad.mit.edu	37	18	61326713	61326713	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61326713C>T	ENST00000283752.5	-	4	414	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E91K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	91					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTTGAATTCAGTCAGAAGC	0.373																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(271-273)Gaa>Aaa		serpin peptidase inhibitor, clade B (ovalbumin), member 3							123.0	124.0	124.0					18																	61326713		2203	4297	6500	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61326713C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.271G>A	18.37:g.61326713C>T	ENSP00000283752:p.Glu91Lys					SERPINB3_ENST00000332821.8_Missense_Mutation_p.E91K|SERPINB11_ENST00000489748.1_RNA	p.E91K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			4	414	-			91					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.271G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061055	0.55432	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84146	-1.81;-1.81	3.13	1.24	0.21308	Serpin domain (3);	0.329725	0.21785	N	0.069146	T	0.79341	0.4429	L	0.41124	1.26	0.09310	N	1	P;P;P;P	0.46064	0.704;0.635;0.872;0.872	B;B;B;P	0.45660	0.354;0.347;0.354;0.489	T	0.70439	-0.4871	10	0.59425	D	0.04	.	7.3552	0.26714	0.0:0.72:0.1781:0.1018	.	91;91;91;91	A8K847;P29508-2;P29508;Q5K684	.;.;SPB3_HUMAN;.	K	91	ENSP00000283752:E91K;ENSP00000329498:E91K	ENSP00000283752:E91K	E	-	1	0	SERPINB3	59477693	0.001000	0.12720	0.004000	0.12327	0.547000	0.35210	0.725000	0.25970	0.325000	0.23359	0.455000	0.32223	GAA		0.373	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		13	151	0	0	0	1	0	13	151				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	94	0	0	0	1	0	3	94				
TRIM39	56658	broad.mit.edu	37	6	30297528	30297528	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	ENST00000396547.1	+	2	594	c.434A>G	c.(433-435)gAt>gGt	p.D145G	HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.D145G|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	145					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACTGGACGATGCTACACAG	0.542																																						ENST00000376659.5																			0				ovary(3)	3						c.(433-435)gAt>gGt		tripartite motif containing 39							60.0	64.0	63.0					6																	30297528		1508	2707	4215	SO:0001583	missense	56658							g.chr6:30297528A>G	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.434A>G	6.37:g.30297528A>G	ENSP00000379796:p.Asp145Gly					TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|TRIM39_ENST00000396547.1_Missense_Mutation_p.D145G|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G	p.D145G	NM_172016.2	NP_742013.1					3	1032	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.434A>G	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.56|17.56	3.420802|3.420802	0.62622|0.62622	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.094359|.	0.44285|.	D|.	0.000471|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.49126|0.49126	1.545|1.545	0.47037|0.47037	D|D	0.999293|0.999293	B;B;P|.	0.37061|.	0.288;0.128;0.58|.	B;B;B|.	0.42030|.	0.118;0.101;0.373|.	T|T	0.51364|0.51364	-0.8715|-0.8715	10|5	0.87932|.	D|.	0|.	.|.	13.3341|13.3341	0.60507|0.60507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;145;145|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	G|V	145;145;145;145;145;59;145;145;145;145;57|75	ENSP00000379800:D145G;ENSP00000365844:D145G;ENSP00000439400:D145G;ENSP00000406019:D145G;ENSP00000379797:D145G;ENSP00000365847:D145G;ENSP00000379796:D145G;ENSP00000424048:D57G|.	ENSP00000365844:D145G|.	D|M	+|+	2|1	0|0	TRIM39-RPP21;TRIM39|TRIM39	30405507|30405507	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.941000|0.941000	0.58515|0.58515	6.364000|6.364000	0.73086|0.73086	2.253000|2.253000	0.74438|0.74438	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		7	67	0	0	0	1	0	7	67				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	158	0	0	0	1	0	4	158				
CSMD3	114788	broad.mit.edu	37	8	113267520	113267520	+	Silent	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000455883.2_Silent_p.A3164A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000343508.3_Silent_p.A3293A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9997-9999)gcA>gcT		CUB and Sushi multiple domains 3							133.0	120.0	124.0					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113267520T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9999A>T	8.37:g.113267520T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.A3293A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A	p.A3333A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10243	-			3333			Sushi 26.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9999A>T	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	72	0	0	0	1	0	34	72				
TBC1D4	9882	broad.mit.edu	37	13	75930351	75930351	+	Silent	SNP	G	G	T	rs377252828		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	ENST00000377636.3	-	4	1553	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.R403R|TBC1D4_ENST00000431480.2_Silent_p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1207-1209)Cgg>Agg		TBC1 domain family, member 4							62.0	60.0	60.0					13																	75930351		1912	4137	6049	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930351G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1207C>A	13.37:g.75930351G>T						TBC1D4_ENST00000377625.2_Silent_p.R403R|TBC1D4_ENST00000431480.2_Silent_p.R403R|TBC1D4_ENST00000425511.1_5'UTR	p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	4	1553	-		Prostate(6;0.014)|Breast(118;0.0982)	403			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1207C>A	CCDS41901.1																																																																																				0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	45	1	0	5.9392e-07	1	6.43413e-07	5	45				
FMNL1	752	broad.mit.edu	37	17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	ENST00000331495.3	+	14	1774	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	480	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(1438-1440)Gtg>Atg		formin-like 1							13.0	8.0	10.0					17																	43318854		2093	4123	6216	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43318854G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1438G>A	17.37:g.43318854G>A	ENSP00000329219:p.Val480Met					FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M	p.V480M	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			14	1774	+			480			Pro-rich.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.1438G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892971	0.52121	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.80033	-1.33;-1.33	4.45	0.94	0.19513	.	0.416849	0.23330	N	0.049356	T	0.62368	0.2422	L	0.34521	1.04	0.33355	D	0.571547	B	0.29716	0.255	B	0.28305	0.088	T	0.56288	-0.8004	10	0.23891	T	0.37	.	2.2943	0.04146	0.1113:0.3288:0.3669:0.193	.	480	O95466	FMNL_HUMAN	M	480;480;198	ENSP00000327442:V480M;ENSP00000329219:V480M	ENSP00000327442:V480M	V	+	1	0	FMNL1	40674637	0.826000	0.29277	1.000000	0.80357	0.887000	0.51463	0.000000	0.12993	0.822000	0.34565	0.407000	0.27541	GTG		0.682	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		3	4	0	0	0	1	0	3	4				
COL4A1	1282	broad.mit.edu	37	13	110857850	110857850	+	Silent	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:110857850T>C	ENST00000375820.4	-	16	1015	c.894A>G	c.(892-894)aaA>aaG	p.K298K	COL4A1_ENST00000543140.1_Silent_p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(892-894)aaA>aaG		collagen, type IV, alpha 1							150.0	175.0	166.0					13																	110857850		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857850T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.894A>G	13.37:g.110857850T>C						COL4A1_ENST00000543140.1_Silent_p.K298K	p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	1015	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	298			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.894A>G	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			4	308	0	0	0	1	0	4	308				
PRDM4	11108	broad.mit.edu	37	12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	ENST00000228437.5	-	12	2846	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	796					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2386-2388)tCt>tAt		PR domain containing 4							130.0	126.0	128.0					12																	108128006		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128006G>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2387C>A	12.37:g.108128006G>T	ENSP00000228437:p.Ser796Tyr						p.S796Y	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2846	-			796					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2387C>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387628	0.42308	.	.	ENSG00000110851	ENST00000228437	T	0.11930	2.73	6.03	5.1	0.69264	.	0.456216	0.27147	N	0.020717	T	0.09949	0.0244	N	0.24115	0.695	0.19300	N	0.999977	B	0.32693	0.38	B	0.31751	0.135	T	0.22138	-1.0225	10	0.41790	T	0.15	-0.1345	11.5022	0.50444	0.076:0.1385:0.7855:0.0	.	796	Q9UKN5	PRDM4_HUMAN	Y	796	ENSP00000228437:S796Y	ENSP00000228437:S796Y	S	-	2	0	PRDM4	106652136	0.151000	0.22747	0.811000	0.32455	0.865000	0.49528	2.089000	0.41672	2.868000	0.98415	0.555000	0.69702	TCT		0.378	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		13	138	1	0	1.37285e-15	1	1.58641e-15	13	138				
SREBF1	6720	broad.mit.edu	37	17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	ENST00000261646.5	-	6	1346	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C|SREBF1_ENST00000355815.4_Missense_Mutation_p.R418C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	388	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1252-1254)Cgc>Tgc		sterol regulatory element binding transcription factor 1							134.0	109.0	118.0					17																	17721595		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721595G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1162C>T	17.37:g.17721595G>A	ENSP00000261646:p.Arg388Cys					SREBF1_ENST00000261646.5_Missense_Mutation_p.R388C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C	p.R418C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			7	1421	-			388			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1252C>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725971|4.725971	0.89298|0.89298	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79141	.|0.47;0.48;0.48;0.92;-1.24	5.13|5.13	4.1|4.1	0.47936|0.47936	.|Helix-loop-helix DNA-binding (2);	.|0.066648	.|0.64402	.|D	.|0.000005	D|D	0.82692|0.82692	0.5092|0.5092	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.72338	.|0.977;0.96;0.912;0.959	D|D	0.83619|0.83619	0.0138|0.0138	5|10	.|0.87932	.|D	.|0	-19.4068|-19.4068	10.314|10.314	0.43725|0.43725	0.0:0.0:0.5691:0.4309|0.0:0.0:0.5691:0.4309	.|.	.|388;364;388;418	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	V|C	395|388;418;388;134;225;314;388	.|ENSP00000345822:R388C;ENSP00000348069:R418C;ENSP00000261646:R388C;ENSP00000379106:R134C;ENSP00000413389:R388C	.|ENSP00000261646:R388C	A|R	-|-	2|1	0|0	SREBF1|SREBF1	17662320|17662320	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.946000|0.946000	0.59487|0.59487	5.568000|5.568000	0.67385|0.67385	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.542	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		4	121	0	0	0	1	0	4	121				
DGKH	160851	broad.mit.edu	37	13	42701681	42701681	+	Missense_Mutation	SNP	G	G	A	rs150403121		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:42701681G>A	ENST00000337343.4	+	2	296	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DGKH_ENST00000540693.1_Missense_Mutation_p.R92H|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.R92H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTTCGAGGCCGCACCCTTTAC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18622	0.0		0.001	False		,,,				2504	0.0					ENST00000337343.4																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(274-276)cGc>cAc		diacylglycerol kinase, eta		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	80.0	84.0		275,275,275	4.8	0.9	13	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DGKH	NM_001204504.1,NM_152910.4,NM_178009.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	92/1165,92/1165,92/1221	42701681	1,13005	2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42701681G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.275G>A	13.37:g.42701681G>A	ENSP00000337572:p.Arg92His					DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.R92H|DGKH_ENST00000540693.1_Missense_Mutation_p.R92H	p.R92H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	2	296	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	92			PH.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.275G>A	CCDS9381.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.6	4.168901	0.78339	0.0	1.16E-4	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491	T;T;T	0.75704	-0.96;-0.96;-0.96	5.69	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	L	0.35487	1.065	0.80722	D	1	B;D	0.56746	0.333;0.977	B;P	0.58077	0.061;0.832	T	0.79463	-0.1793	10	0.72032	D	0.01	.	14.5166	0.67824	0.0702:0.0:0.9298:0.0	.	92;92	Q86XP1-2;Q86XP1	.;DGKH_HUMAN	H	92	ENSP00000440823:R92H;ENSP00000337572:R92H;ENSP00000261491:R92H	ENSP00000261491:R92H	R	+	2	0	DGKH	41599681	1.000000	0.71417	0.880000	0.34516	0.500000	0.33767	7.936000	0.87665	1.414000	0.47017	0.655000	0.94253	CGC		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		3	69	0	0	0	1	0	3	69				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		3	60	0	0	0	1	0	3	60				
SERPINB4	6318	broad.mit.edu	37	18	61309074	61309074	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61309074C>T	ENST00000341074.5	-	4	386	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	91					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTGTTGAATTCAGTCAGAAGC	0.383																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(271-273)Gaa>Aaa		serpin peptidase inhibitor, clade B (ovalbumin), member 4							147.0	139.0	142.0					18																	61309074		2203	4297	6500	SO:0001583	missense	6318							g.chr18:61309074C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.271G>A	18.37:g.61309074C>T	ENSP00000343445:p.Glu91Lys					SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	p.E91K	NM_002974.2	NP_002965.1					4	386	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.271G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	7.697	0.692238	0.15039	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84146	-1.81;-1.81	3.76	1.89	0.25635	Serpin domain (3);	0.329725	0.21785	N	0.069146	T	0.81394	0.4813	L	0.39692	1.235	0.22835	N	0.998674	B;P	0.44195	0.167;0.828	B;P	0.48524	0.172;0.58	T	0.71849	-0.4468	10	0.54805	T	0.06	.	7.5233	0.27641	0.0:0.7263:0.1753:0.0984	.	91;91	P48594;Q9BYF7	SPB4_HUMAN;.	K	91	ENSP00000343445:E91K;ENSP00000348795:E91K	ENSP00000343445:E91K	E	-	1	0	SERPINB4	59460054	0.000000	0.05858	0.129000	0.21949	0.266000	0.26442	0.333000	0.19768	0.352000	0.24053	-0.199000	0.12753	GAA		0.383	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		41	115	0	0	0	1	0	41	115				
COL11A1	1301	broad.mit.edu	37	1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	ENST00000370096.3	-	5	1031	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_ENST00000358392.2_Missense_Mutation_p.S240I|COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(718-720)aGt>aTt		collagen, type XI, alpha 1							110.0	97.0	101.0					1																	103496733		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496733C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.719G>T	1.37:g.103496733C>A	ENSP00000359114:p.Ser240Ile					COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240I	p.S240I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	5	1036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	240			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467084	0.43839	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;T	0.89270	-2.42;-2.44;-2.48;-2.49;-2.13;3.15	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.181870	0.64402	D	0.000018	T	0.76205	0.3955	L	0.41027	1.25	0.48830	D	0.999717	B;B;B;B	0.16603	0.0;0.004;0.018;0.002	B;B;B;B	0.12156	0.002;0.005;0.007;0.002	T	0.71364	-0.4615	10	0.17832	T	0.49	.	14.4336	0.67266	0.1474:0.8526:0.0:0.0	.	240;240;240;240	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	240;240;240;240;240;167	ENSP00000359114:S240I;ENSP00000351163:S240I;ENSP00000302551:S240I;ENSP00000426533:S240I;ENSP00000408640:S240I;ENSP00000410177:S167I	ENSP00000302551:S240I	S	-	2	0	COL11A1	103269321	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.550000	0.53691	2.631000	0.89168	0.551000	0.68910	AGT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	34	1	0	0.00307968	1	0.00326823	5	34				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	74	0	0	0	1	0	4	74				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	49	0	0	0	1	0	5	49				
KRR1	11103	broad.mit.edu	37	12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	ENST00000229214.4	-	2	227	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	68					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(202-204)agG>agT		KRR1, small subunit (SSU) processome component, homolog (yeast)							117.0	110.0	113.0					12																	75902108		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75902108C>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.204G>T	12.37:g.75902108C>A	ENSP00000229214:p.Arg68Ser					KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			2	227	-			68					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.204G>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854822	0.71719	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.45276	0.9;0.9	5.96	-0.577	0.11727	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.64618	-0.6365	10	0.87932	D	0	-15.0909	6.325	0.21239	0.0:0.2694:0.1196:0.6109	.	68;68;68	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	S	68	ENSP00000229214:R68S;ENSP00000411740:R68S	ENSP00000229214:R68S	R	-	3	2	KRR1	74188375	1.000000	0.71417	0.983000	0.44433	0.924000	0.55760	0.578000	0.23773	-0.085000	0.12573	-0.937000	0.02696	AGG		0.413	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		13	60	1	0	1.5739e-10	1	1.77919e-10	13	60				
MAMDC4	158056	broad.mit.edu	37	9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	ENST00000317446.2	+	16	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A720T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2158-2160)Gca>Aca		MAM domain containing 4							34.0	38.0	36.0					9																	139751442		2200	4298	6498	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751442G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1921G>A	9.37:g.139751442G>A	ENSP00000319388:p.Ala641Thr					MAMDC4_ENST00000317446.2_Missense_Mutation_p.A641T|MAMDC4_ENST00000485732.1_3'UTR	p.A720T			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	18	2208	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	720			MAM 4.			Missense_Mutation	SNP	ENST00000317446.2	37	c.2158G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.096|5.096	0.203294|0.203294	0.09704|0.09704	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01787|.	4.64;4.64|.	5.02|5.02	1.93|1.93	0.25924|0.25924	.|.	0.781182|.	0.11425|.	N|.	0.565398|.	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.13327|0.13327	0.33|0.33	0.09310|0.09310	N|N	1|1	B|.	0.24618|.	0.107|.	B|.	0.22880|.	0.042|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.10111|.	T|.	0.7|.	-4.9669|-4.9669	8.9575|8.9575	0.35827|0.35827	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	641|.	Q6UXC1-2|.	.|.	T|N	641;720|705	ENSP00000319388:A641T;ENSP00000411339:A720T|.	ENSP00000319388:A641T|.	A|S	+|+	1|2	0|0	MAMDC4|MAMDC4	138871263|138871263	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.224000|0.224000	0.17738|0.17738	0.963000|0.963000	0.38082|0.38082	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	62	0	0	0	1	0	3	62				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		83	128	1	0	9.34078e-37	1	1.10391e-36	83	128				
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)cgg>c		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	p.HR729del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		7	103						7	103	---	---	---	---
LINC00698	285401	broad.mit.edu	37	3	63082085	63082085	+	lincRNA	DEL	G	G	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr3:63082085delG	ENST00000468072.1	+	0	125					NR_027104.1				long intergenic non-protein coding RNA 698																		TCGGACACCAGCTTCCCATCG	0.637																																						ENST00000468072.1																			0																																																			0							g.chr3:63082085delG	BC039502, BC043407		3p14.2	2012-11-23			ENSG00000244342	ENSG00000244342		"""Long non-coding RNAs"""	27720	non-coding RNA	RNA, long non-coding							Standard	NR_027104		Approved		uc003dlo.3		OTTHUMG00000158701		3.37:g.63082085delG								NR_027104.1						0	125	+									RNA	DEL	ENST00000468072.1	37																																																																																						0.637	LINC00698-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351800.1	NR_027104		4	9						4	9	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		7	146						7	146	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-	rs551064067	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)cccccggagtctcctggadel	p.PPESPG19del	AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	373										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789														255	0.0509185	0.0038	0.0375	5008	,	,		10950	0.0417		0.0616	False		,,,				2504	0.1227					ENST00000374525.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(37-54)del		A kinase (PRKA) anchor protein 2																																				SO:0001651	inframe_deletion	11217							g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.37_54delCCCCCGGAGTCTCCTGGA	9.37:g.112811016_112811033delCCCCCGGAGTCTCCTGGA	ENSP00000363649:p.Pro19_Gly24del					AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del	p.PPESPG19del	NM_001004065.4	NP_001004065.2					1	41_58	+								B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000374525.1	37	c.37_54delCCCCCGGAGTCTCCTGGA	CCDS43861.1																																																																																				0.789	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		3	5						3	5	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9322170	9322173	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:9322170_9322173delAGTT	ENST00000261336.2	-	16	1882_1885	c.1854_1857delAACT	c.(1852-1857)ctaactfs	p.LT618fs	PZP_ENST00000381997.2_Frame_Shift_Del_p.LT487fs|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	618					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATCCTTCACAGTTAGCAGATTAT	0.397																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1852-1857)ctfs		pregnancy-zone protein																																				SO:0001589	frameshift_variant	5858							g.chr12:9322170_9322173delAGTT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1854_1857delAACT	12.37:g.9322170_9322173delAGTT	ENSP00000261336:p.Leu618fs					PZP_ENST00000381997.2_Frame_Shift_Del_p.LT487fs	p.LT618fs	NM_002864.2	NP_002855.2					16	1882_1885	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Frame_Shift_Del	DEL	ENST00000261336.2	37	c.1854_1857delAACT	CCDS8600.1																																																																																				0.397	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		10	61						10	61	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	233						8	233	---	---	---	---
