#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FCRL1	115350	broad.mit.edu	37	1	157773734	157773734	+	Missense_Mutation	SNP	C	C	T	rs199965054		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:157773734C>T	ENST00000368176.3	-	3	287	c.220G>A	c.(220-222)Gct>Act	p.A74T	FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.A74T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	74	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACATGGCAGCGATCTGGAGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18557	0.001		0.0	False		,,,				2504	0.0				GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(220-222)Gct>Act		Fc receptor-like 1							96.0	93.0	94.0					1																	157773734		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773734C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.220G>A	1.37:g.157773734C>T	ENSP00000357158:p.Ala74Thr		Somatic				FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T	p.A74T	NM_001159397.1	NP_001152869.1	WXS	Illumina GAIIx	Phase_I	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	271	-	all_hematologic(112;0.0378)		74			Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.220G>A	CCDS1170.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.834	0.720490	0.15372	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11930	2.73;2.73;2.73	4.55	-9.11	0.00711	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.297580	0.01368	N	0.012475	T	0.01730	0.0055	L	0.31065	0.9	0.09310	N	1	B;B;B	0.29909	0.261;0.244;0.155	B;B;B	0.22753	0.041;0.019;0.007	T	0.11966	-1.0566	10	0.24483	T	0.36	.	4.2691	0.10778	0.2066:0.5036:0.1229:0.1668	.	74;74;74	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	T	74	ENSP00000351039:A74T;ENSP00000357158:A74T;ENSP00000418130:A74T	ENSP00000351039:A74T	A	-	1	0	FCRL1	156040358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.602000	0.05680	-3.118000	0.00239	-1.045000	0.02358	GCT		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	71	8	71	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487019	248487019	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:248487019C>T	ENST00000317965.2	-	1	880	c.852G>A	c.(850-852)atG>atA	p.M284I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATTCAGCATGGGAGTGA	0.438																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(850-852)atG>atA		olfactory receptor, family 2, subfamily M, member 7							102.0	95.0	97.0					1																	248487019		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487019C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.852G>A	1.37:g.248487019C>T	ENSP00000324557:p.Met284Ile		Somatic					p.M284I	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	880	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		284					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.852G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249228	0.05867	.	.	ENSG00000177186	ENST00000317965	T	0.37411	1.2	1.55	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36771	0.0979	M	0.78285	2.405	0.20975	N	0.999814	B	0.15141	0.012	B	0.15484	0.013	T	0.39603	-0.9606	9	0.66056	D	0.02	.	6.4289	0.21786	0.0:0.7022:0.0:0.2978	.	284	Q8NG81	OR2M7_HUMAN	I	284	ENSP00000324557:M284I	ENSP00000324557:M284I	M	-	3	0	OR2M7	246553642	0.000000	0.05858	0.664000	0.29753	0.038000	0.13279	-1.029000	0.03585	0.001000	0.14605	0.194000	0.17425	ATG		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	46	7	46	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85569757	85569757	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr4:85569757C>T	ENST00000295887.5	+	13	1727	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGCTTCAACCTGAACAGCAG	0.403																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(1303-1305)cCt>cTt		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							68.0	67.0	68.0					4																	85569757		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85569757C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1304C>T	4.37:g.85569757C>T	ENSP00000295887:p.Pro435Leu		Somatic					p.P435L	NM_001263.3	NP_001254.2	WXS	Illumina GAIIx	Phase_I	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	13	1727	+		Hepatocellular(203;0.114)	435					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1304C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724999	0.48833	.	.	ENSG00000163624	ENST00000295887	T	0.44083	0.93	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.74881	2.28	0.80722	D	1	D	0.58268	0.982	P	0.52217	0.693	T	0.51482	-0.8700	10	0.11485	T	0.65	-6.6389	19.7392	0.96219	0.0:1.0:0.0:0.0	.	435	Q92903	CDS1_HUMAN	L	435	ENSP00000295887:P435L	ENSP00000295887:P435L	P	+	2	0	CDS1	85788781	0.998000	0.40836	0.321000	0.25320	0.130000	0.20726	5.416000	0.66417	2.649000	0.89929	0.650000	0.86243	CCT		0.403	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			11	39	11	39	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79672824	79672824	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr6:79672824C>T	ENST00000275034.4	-	30	3692	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1175					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTAGTGTCATCAACTGGTTTA	0.373																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3523-3525)ttG>ttA		pleckstrin homology domain interacting protein							290.0	273.0	278.0					6																	79672824		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79672824C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3525G>A	6.37:g.79672824C>T			Somatic				PHIP_ENST00000479165.1_5'UTR	p.L1175L	NM_017934.5	NP_060404	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	30	3692	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1175					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3525G>A	CCDS4987.1																																																																																				0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	172	7	172	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68084687	68084687	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:68084687G>A	ENST00000262210.5	+	23	2881	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	985					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATATGGCTAGACATC	0.378																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2848-2850)atG>atA		centrosome and spindle pole associated protein 1							90.0	92.0	92.0					8																	68084687		1847	4089	5936	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084687G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2850G>A	8.37:g.68084687G>A	ENSP00000262210:p.Met950Ile		Somatic				CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I	p.M950I	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2881	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	985					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2850G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926553	0.73327	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.34275	1.37;1.39;1.39	5.72	5.72	0.89469	.	0.112294	0.64402	D	0.000012	T	0.55273	0.1910	L	0.59436	1.845	0.28558	N	0.911295	D;P;P;P	0.58268	0.982;0.813;0.794;0.794	D;P;B;B	0.68943	0.961;0.642;0.406;0.406	T	0.53788	-0.8389	10	0.66056	D	0.02	-15.881	14.3278	0.66532	0.0:0.0:0.8516:0.1484	.	108;605;950;985	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	I	950;985;605;605	ENSP00000262210:M950I;ENSP00000415782:M605I;ENSP00000430092:M605I	ENSP00000262210:M950I	M	+	3	0	CSPP1	68247241	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.899000	0.63245	2.689000	0.91719	0.591000	0.81541	ATG		0.378	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	65	12	65	---	---	---	---
RPL7	6129	broad.mit.edu	37	8	74205006	74205006	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:74205006A>C	ENST00000352983.2	-	2	326	c.41T>G	c.(40-42)gTg>gGg	p.V14G	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396467.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	14	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GGTTTCTGGCACAGCAGGAAC	0.413																																						ENST00000352983.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(40-42)gTg>gGg		ribosomal protein L7							56.0	65.0	62.0					8																	74205006		2203	4300	6503	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205006A>C	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.41T>G	8.37:g.74205006A>C	ENSP00000339795:p.Val14Gly		Somatic				RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR	p.V14G			WXS	Illumina GAIIx	Phase_I	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	326	-	Breast(64;0.0954)		14			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.41T>G	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191535	0.58017	.	.	ENSG00000147604	ENST00000352983	.	.	.	4.71	3.51	0.40186	.	0.000000	0.64402	U	0.000007	T	0.75421	0.3847	M	0.85710	2.77	0.80722	D	1	P	0.47677	0.899	P	0.56612	0.802	T	0.77571	-0.2538	9	0.87932	D	0	.	10.2693	0.43473	0.92:0.0:0.08:0.0	.	14	P18124	RL7_HUMAN	G	14	.	ENSP00000339795:V14G	V	-	2	0	RPL7	74367560	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.277000	0.78572	0.785000	0.33685	0.533000	0.62120	GTG		0.413	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		7	41	7	41	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814523	106814523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:106814523G>A	ENST00000407775.2	+	8	2463	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	738					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACACGCAAGCGCAGAAAGATG	0.507																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2212-2214)cGc>cAc		zinc finger protein, FOG family member 2							47.0	47.0	47.0					8																	106814523		2089	4219	6308	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814523G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2213G>A	8.37:g.106814523G>A	ENSP00000384179:p.Arg738His		Somatic				RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.R738H	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2463	+			738					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2213G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625813	0.87560	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.54675	0.56;1.13;1.13;2.36	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73490	-0.3966	10	0.54805	T	0.06	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	738	Q8WW38	FOG2_HUMAN	H	738;606;606;469	ENSP00000384179:R738H;ENSP00000430757:R606H;ENSP00000428720:R606H;ENSP00000367733:R469H	ENSP00000367733:R469H	R	+	2	0	ZFPM2	106883699	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	CGC		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			5	20	5	20	---	---	---	---
BTBD16	118663	broad.mit.edu	37	10	124050622	124050622	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:124050622A>G	ENST00000260723.4	+	7	754	c.503A>G	c.(502-504)tAc>tGc	p.Y168C	BTBD16_ENST00000368994.2_Missense_Mutation_p.Y169C	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	168	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAACCTCTACATGAGTGAG	0.582																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(505-507)tAc>tGc		BTB (POZ) domain containing 16							145.0	138.0	140.0					10																	124050622		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124050622A>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.503A>G	10.37:g.124050622A>G	ENSP00000260723:p.Tyr168Cys		Somatic				BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C	p.Y169C			WXS	Illumina GAIIx	Phase_I	Q32M84	BTBDG_HUMAN			7	757	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	168			BTB.		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.506A>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778909	0.49891	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.54866	0.55;0.55	5.56	5.56	0.83823	BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	T	0.74831	0.3768	M	0.87456	2.885	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79564	-0.1751	10	0.87932	D	0	-32.2448	12.1116	0.53842	1.0:0.0:0.0:0.0	.	169;168	Q32M84-2;Q32M84	.;BTBDG_HUMAN	C	168;169	ENSP00000260723:Y168C;ENSP00000357990:Y169C	ENSP00000260723:Y168C	Y	+	2	0	BTBD16	124040612	0.938000	0.31826	0.907000	0.35723	0.283000	0.27025	2.790000	0.47821	2.103000	0.63969	0.533000	0.62120	TAC		0.582	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		25	85	25	85	---	---	---	---
PTPRE	5791	broad.mit.edu	37	10	129854464	129854464	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:129854464C>T	ENST00000254667.3	+	7	777	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000430713.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	166	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ACAGATATCCCAACATCCTTC	0.393																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(496-498)ccC>ccT		protein tyrosine phosphatase, receptor type, E							106.0	114.0	111.0					10																	129854464		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129854464C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.498C>T	10.37:g.129854464C>T			Somatic				PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000430713.2_Intron	p.P166P	NM_006504.4	NP_006495.1	WXS	Illumina GAIIx	Phase_I	P23469	PTPRE_HUMAN			7	777	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	166			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.498C>T	CCDS7657.1																																																																																				0.393	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			21	121	21	121	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134909215	134909215	+	Intron	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:134909215G>A	ENST00000392607.3	+	3	439				GPR123_ENST00000607359.1_Silent_p.R698R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGCTGGACGGACAAGAAGTG	0.642																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2092-2094)cgG>cgA		G protein-coupled receptor 123							40.0	43.0	42.0					10																	134909215		1568	3582	5150	SO:0001627	intron_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134909215G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.4-1263G>A	10.37:g.134909215G>A			Somatic				GPR123_ENST00000392607.3_Intron	p.R698R			WXS	Illumina GAIIx	Phase_I	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	11	2094	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.2094G>A	CCDS41580.1																																																																																				0.642	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			3	21	3	21	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371196	55371196	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr11:55371196G>A	ENST00000302231.4	-	1	678	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATGCAAGATGACAATATATG	0.413																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(652-654)gtC>gtT		olfactory receptor, family 4, subfamily C, member 11							79.0	68.0	72.0					11																	55371196		2176	4005	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371196G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.654C>T	11.37:g.55371196G>A			Somatic					p.V218V	NM_001004700.2	NP_001004700.2	WXS	Illumina GAIIx	Phase_I	Q6IEV9	OR4CB_HUMAN			1	678	-			218					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.654C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		25	77	25	77	---	---	---	---
STRN3	29966	broad.mit.edu	37	14	31416396	31416396	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr14:31416396G>T	ENST00000357479.5	-	5	812	c.616C>A	c.(616-618)Cta>Ata	p.L206I	STRN3_ENST00000355683.5_Missense_Mutation_p.L206I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	206					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GAATTAGATAGTCCAAGTAAT	0.343																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(616-618)Cta>Ata		striatin, calmodulin binding protein 3							156.0	149.0	151.0					14																	31416396		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416396G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.616C>A	14.37:g.31416396G>T	ENSP00000350071:p.Leu206Ile		Somatic				STRN3_ENST00000357479.5_Missense_Mutation_p.L206I	p.L206I	NM_014574.3	NP_055389.3	WXS	Illumina GAIIx	Phase_I	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	831	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		206					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.616C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603194	0.66445	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86562	-2.14;-2.14	5.9	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.69823	2.125	0.58432	D	0.999999	P;D	0.63880	0.577;0.993	B;D	0.70016	0.179;0.967	D	0.89751	0.3940	10	0.44086	T	0.13	-17.7279	10.9469	0.47306	0.1714:0.0:0.8286:0.0	.	206;206	Q13033-2;Q13033	.;STRN3_HUMAN	I	206;206;87	ENSP00000347909:L206I;ENSP00000350071:L206I	ENSP00000347909:L206I	L	-	1	2	STRN3	30486147	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	4.785000	0.62418	0.641000	0.30601	0.591000	0.81541	CTA		0.343	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		4	134	4	134	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806306	22806306	+	Missense_Mutation	SNP	A	A	G	rs371804263		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr18:22806306A>G	ENST00000361524.3	-	4	1724	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCAGGGAAGAGTCAGTGAGA	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1576-1578)Tct>Cct		zinc finger protein 521							74.0	80.0	78.0					18																	22806306		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806306A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1576T>C	18.37:g.22806306A>G	ENSP00000354794:p.Ser526Pro		Somatic				ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P	p.S526P	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	Q96K83	ZN521_HUMAN			4	1724	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		526					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1576T>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	6.689	0.495797	0.12762	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.32988	1.43;1.43	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.165254	0.56097	D	0.000031	T	0.34483	0.0899	L	0.27053	0.805	0.34889	D	0.745333	P	0.37781	0.608	P	0.46975	0.533	T	0.49735	-0.8908	10	0.66056	D	0.02	-18.871	16.2847	0.82712	1.0:0.0:0.0:0.0	.	526	Q96K83	ZN521_HUMAN	P	526;560;526	ENSP00000354794:S526P;ENSP00000382352:S526P	ENSP00000354794:S526P	S	-	1	0	ZNF521	21060304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.157000	0.42320	2.242000	0.73789	0.528000	0.53228	TCT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	45	14	45	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9045763	9045763	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:9045763G>A	ENST00000397910.4	-	5	36071	c.35868C>T	c.(35866-35868)acC>acT	p.T11956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11958	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCATGACTGGTTTTAGGTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35866-35868)acC>acT		mucin 16, cell surface associated							200.0	190.0	193.0					19																	9045763		1976	4163	6139	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045763G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35868C>T	19.37:g.9045763G>A			Somatic					p.T11956T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	36071	-			11958			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35868C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	54	13	54	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59060418	59060418	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:59060418A>T	ENST00000253024.5	+	12	1762	c.1473A>T	c.(1471-1473)gaA>gaT	p.E491D	TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	491	HP1 box.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAGCCTTGAACGCCTGGACC	0.582																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1471-1473)gaA>gaT		tripartite motif containing 28							72.0	69.0	70.0					19																	59060418		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060418A>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1473A>T	19.37:g.59060418A>T	ENSP00000253024:p.Glu491Asp		Somatic				TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	p.E491D	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	12	1762	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	491			HP1 box.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1473A>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397792	0.42512	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.70282	-0.24;-0.47	4.95	2.79	0.32731	.	0.000000	0.64402	D	0.000008	T	0.52354	0.1729	N	0.19112	0.55	0.32690	N	0.51429	P;P;P	0.51933	0.849;0.949;0.765	P;B;B	0.44561	0.453;0.153;0.265	T	0.59484	-0.7446	10	0.40728	T	0.16	-25.0094	4.9551	0.14035	0.4648:0.0:0.5352:0.0	.	409;491;491	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	D	491;409	ENSP00000253024:E491D;ENSP00000342232:E409D	ENSP00000253024:E491D	E	+	3	2	TRIM28	63752230	1.000000	0.71417	0.973000	0.42090	0.010000	0.07245	0.570000	0.23653	0.400000	0.25396	0.448000	0.29417	GAA		0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	15	4	15	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1594921	1594922	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr7:1594921_1594922delAG	ENST00000297477.5	-	2	515_516	c.199_200delCT	c.(199-201)ctgfs	p.L67fs		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	67					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTGAGCACCAGGGCAGTCCAC	0.688																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(199-201)ctgfs		transmembrane protein 184A																																				SO:0001589	frameshift_variant	202915					integral to membrane		g.chr7:1594921_1594922delAG		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.199_200delCT	7.37:g.1594921_1594922delAG	ENSP00000297477:p.Leu67fs		Somatic					p.L67fs	NM_001097620.1	NP_001091089.1	WXS	Illumina GAIIx	Phase_I	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	2	515_516	-		Ovarian(82;0.0253)	67					Q8TBQ6	Frame_Shift_Del	DEL	ENST00000297477.5	37	c.199_200delCT	CCDS43537.1																																																																																				0.688	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		2	4	2	4	---	---	---	---
