#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
KIF1B	23095	broad.mit.edu	37	1	10364265	10364265	+	Intron	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:10364265G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Missense_Mutation_p.G1008R|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGAAAAAGGGGGTAAAGG	0.413																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3022-3024)Ggg>Agg		kinesin family member 1B							112.0	121.0	118.0					1																	10364265		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364265G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6961G>A	1.37:g.10364265G>A			Somatic				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron	p.G1008R	NM_183416.3	NP_904325.2	WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3175	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	8.022	0.759801	0.15846	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.72725	-0.68;-0.68	5.48	3.27	0.37495	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.20196	N	0.999925	B	0.18863	0.031	B	0.24006	0.05	T	0.44003	-0.9356	8	0.23891	T	0.37	.	11.1421	0.48408	0.1684:0.0:0.8316:0.0	.	1008	O60333-3	.	R	1008	ENSP00000366297:G1008R;ENSP00000366287:G1008R	ENSP00000366287:G1008R	G	+	1	0	KIF1B	10286852	0.552000	0.26505	0.565000	0.28409	0.635000	0.38103	2.230000	0.42999	1.318000	0.45170	0.655000	0.94253	GGG		0.413	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	151	7	151	---	---	---	---
OMA1	115209	broad.mit.edu	37	1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	41					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTAACTTGTACTTGATGACAG	0.393																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(121-123)Gta>Cta		OMA1 zinc metallopeptidase							106.0	108.0	107.0					1																	59004846		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004846C>G	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.121G>C	1.37:g.59004846C>G	ENSP00000360270:p.Val41Leu		Somatic				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	p.V41L	NM_145243.3	NP_660286.1	WXS	Illumina GAIIx	Phase_I	Q96E52	OMA1_HUMAN			2	234	-	all_cancers(7;6.54e-05)		41					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.121G>C	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228890	0.39399	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33216	2.44;2.45;1.85;1.84;1.84;1.42	4.99	4.05	0.47172	.	0.903468	0.09368	N	0.811746	T	0.26810	0.0656	L	0.51422	1.61	0.09310	N	1	B;P	0.36837	0.435;0.571	B;B	0.30855	0.057;0.121	T	0.11299	-1.0593	9	.	.	.	-2.2897	9.865	0.41138	0.1564:0.6924:0.1512:0.0	.	41;41	Q96E52;Q96E52-2	OMA1_HUMAN;.	L	41	ENSP00000351417:V41L;ENSP00000360270:V41L;ENSP00000395053:V41L;ENSP00000409589:V41L;ENSP00000416495:V41L;ENSP00000392978:V41L	.	V	-	1	0	OMA1	58777434	0.014000	0.17966	0.015000	0.15790	0.317000	0.28152	2.481000	0.45215	1.445000	0.47624	0.591000	0.81541	GTA		0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		13	149	13	149	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:112605385G>A	ENST00000341068.3	-	15	2480	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATTATAGAGAGAATCATGA	0.363																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1708-1710)Ctc>Ttc		anaphase promoting complex subunit 1							50.0	47.0	48.0					2																	112605385		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112605385G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1708C>T	2.37:g.112605385G>A	ENSP00000339109:p.Leu570Phe		Somatic					p.L570F	NM_022662.3	NP_073153.1	WXS	Illumina GAIIx	Phase_I	Q9H1A4	APC1_HUMAN			15	2480	-			570					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1708C>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.39|13.39	2.222463|2.222463	0.39300|0.39300	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.49|4.49	3.59|3.59	0.41128|0.41128	.|.	0.657691|.	0.12332|.	U|.	0.478260|.	T|T	0.27205|0.27205	0.0667|0.0667	N|N	0.17082|0.17082	0.46|0.46	0.31699|0.31699	N|N	0.640893|0.640893	B|.	0.22604|.	0.072|.	B|.	0.21917|.	0.037|.	T|T	0.21280|0.21280	-1.0250|-1.0250	9|5	0.23302|.	T|.	0.38|.	-11.2078|-11.2078	6.4456|6.4456	0.21875|0.21875	0.0902:0.0:0.6076:0.3021|0.0902:0.0:0.6076:0.3021	.|.	570|.	Q9H1A4|.	APC1_HUMAN|.	F|F	570|104	.|.	ENSP00000339109:L570F|.	L|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112321856|112321856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.832000|1.832000	0.39151|0.39151	2.189000|2.189000	0.69895|0.69895	0.557000|0.557000	0.71058|0.71058	CTC|TCT		0.363	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	168	8	168	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:120567452C>G	ENST00000263708.2	+	2	794	c.23C>G	c.(22-24)cCt>cGt	p.P8R	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	8					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTCCGATTGCCTGCTGGCAGA	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(22-24)cCt>cGt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						128.0	113.0	118.0					2																	120567452		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120567452C>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.23C>G	2.37:g.120567452C>G	ENSP00000263708:p.Pro8Arg		Somatic				PTPN4_ENST00000460162.1_3'UTR	p.P8R	NM_002830.3	NP_002821.1	WXS	Illumina GAIIx	Phase_I	P29074	PTN4_HUMAN			2	794	+			8					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.23C>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811342	0.90707	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;T	0.80304	-0.53;0.99;-1.36	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	L	0.51422	1.61	0.80722	D	1	D	0.61080	0.989	P	0.53689	0.732	T	0.83344	-0.0006	10	0.45353	T	0.12	.	19.9503	0.97197	0.0:1.0:0.0:0.0	.	8	P29074	PTN4_HUMAN	R	8	ENSP00000263708:P8R;ENSP00000405763:P8R;ENSP00000438445:P8R	ENSP00000263708:P8R	P	+	2	0	PTPN4	120283922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.812000	0.96745	0.557000	0.71058	CCT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			36	54	36	54	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160665083	160665083	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGAGTGATCTGTTGAAAGA	0.313																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e33-1		lymphocyte antigen 75							130.0	126.0	127.0					2																	160665083		2203	4299	6502	SO:0001630	splice_region_variant	4065							g.chr2:160665083C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4700-1G>T	2.37:g.160665083C>A			Somatic				LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site		NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	33	4727	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769978	0.31320	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0954	0.93248	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LY75;LY75-CD302	160373329	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.165000	0.64959	2.606000	0.88127	0.491000	0.48974	.		0.313	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	10	39	10	39	---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:165755002G>C	ENST00000409149.3	-	11	1457	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	SLC38A11_ENST00000303735.4_Missense_Mutation_p.S367C|RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	389					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CTGAACATGAGACTCTGAGGT	0.353																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1099-1101)tCt>tGt		solute carrier family 38, member 11							81.0	77.0	79.0					2																	165755002		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755002G>C		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1166C>G	2.37:g.165755002G>C	ENSP00000386272:p.Ser389Cys		Somatic				SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	p.S367C	NM_173512.2	NP_775783.1	WXS	Illumina GAIIx	Phase_I	Q08AI6	S38AB_HUMAN			10	1430	-			389					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.1100C>G	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986669	0.35036	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.56	4.68	0.58851	.	0.306471	0.30723	N	0.009020	T	0.27169	0.0666	L	0.59436	1.845	0.19300	N	0.999971	P;P	0.43885	0.771;0.82	B;B	0.43331	0.321;0.416	T	0.11324	-1.0592	10	0.59425	D	0.04	-21.0106	14.2311	0.65892	0.0727:0.0:0.9273:0.0	.	389;367	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	C	367;389;420;389	ENSP00000306178:S367C;ENSP00000386272:S389C;ENSP00000387345:S420C;ENSP00000386774:S389C	ENSP00000306178:S367C	S	-	2	0	SLC38A11	165463248	0.998000	0.40836	0.107000	0.21349	0.224000	0.24922	2.085000	0.41634	1.361000	0.45981	0.563000	0.77884	TCT		0.353	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		3	53	3	53	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196545261	196545261	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:196545261A>G	ENST00000409086.3	+	2	770	c.495A>G	c.(493-495)aaA>aaG	p.K165K	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.K165K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	165	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTCTGTAAAATCTGATGATA	0.348																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(493-495)aaA>aaG		solute carrier family 39 (zinc transporter), member 10							110.0	95.0	100.0					2																	196545261		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545261A>G		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.495A>G	2.37:g.196545261A>G			Somatic				SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	p.K165K	NM_001127257.1	NP_001120729.1	WXS	Illumina GAIIx	Phase_I	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	770	+			165			His-rich.		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.495A>G	CCDS33353.1																																																																																				0.348	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		14	89	14	89	---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:201724917T>C	ENST00000321356.4	-	4	547	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	CLK1_ENST00000409769.2_5'Flank|CLK1_ENST00000492793.1_5'Flank|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000434813.2_Missense_Mutation_p.T180A	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	138					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACACTCCTGGTTCTTTTCCTT	0.438																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(538-540)Acc>Gcc		CDC-like kinase 1							190.0	162.0	171.0					2																	201724917		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724917T>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.412A>G	2.37:g.201724917T>C	ENSP00000326830:p.Thr138Ala		Somatic				CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	p.T180A	NM_001162407.1	NP_001155879.1	WXS	Illumina GAIIx	Phase_I	P49759	CLK1_HUMAN			4	872	-			138			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.538A>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817759	0.16607	.	.	ENSG00000013441	ENST00000321356;ENST00000434813	T;T	0.65178	-0.14;-0.13	5.15	-4.24	0.03777	.	0.121353	0.56097	D	0.000027	T	0.25232	0.0613	N	0.02539	-0.55	0.35162	D	0.770755	B;B	0.18166	0.026;0.011	B;B	0.12837	0.008;0.005	T	0.24154	-1.0168	10	0.10636	T	0.68	.	8.749	0.34605	0.7083:0.0:0.0986:0.1931	.	180;138	B4DFW7;P49759	.;CLK1_HUMAN	A	138;180	ENSP00000326830:T138A;ENSP00000394734:T180A	ENSP00000326830:T138A	T	-	1	0	CLK1	201433162	0.997000	0.39634	0.996000	0.52242	0.998000	0.95712	0.510000	0.22723	-0.295000	0.08960	0.528000	0.53228	ACC		0.438	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			6	83	6	83	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:220334050T>C	ENST00000312358.7	+	13	3796	c.3664T>C	c.(3664-3666)Ttc>Ctc	p.F1222L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCTGGTTCCACAATGG	0.642																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3664-3666)Ttc>Ctc		SPEG complex locus							45.0	55.0	51.0					2																	220334050		2169	4258	6427	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334050T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3664T>C	2.37:g.220334050T>C	ENSP00000311684:p.Phe1222Leu		Somatic				SPEG_ENST00000485813.1_3'UTR	p.F1222L	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	13	3796	+		Renal(207;0.0183)	1222			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3664T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179069	0.78564	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.41400	1.0	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.42245	0.1194	N	0.17872	0.535	0.80722	D	1	D	0.57571	0.98	P	0.54174	0.744	T	0.46091	-0.9216	10	0.72032	D	0.01	.	14.7663	0.69642	0.0:0.0:0.0:1.0	.	1222	Q15772	SPEG_HUMAN	L	1222	ENSP00000311684:F1222L	ENSP00000265327:F1222L	F	+	1	0	SPEG	220042294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.090000	0.71397	2.081000	0.62600	0.533000	0.62120	TTC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	22	3	22	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38097623	38097623	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr4:38097623A>G	ENST00000261439.4	+	14	2665	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V	TBC1D1_ENST00000508802.1_Silent_p.V864V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	770					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTAAAGAAGTAACTACAGTGT	0.413																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2308-2310)gtA>gtG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							117.0	122.0	121.0					4																	38097623		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38097623A>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2310A>G	4.37:g.38097623A>G			Somatic				TBC1D1_ENST00000508802.1_Silent_p.V864V	p.V770V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	WXS	Illumina GAIIx	Phase_I	Q86TI0	TBCD1_HUMAN			14	2665	+			770					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.2310A>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358852	0.24598	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.61	-6.12	0.02124	.	.	.	.	.	T	0.51941	0.1704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-16.5676	10.723	0.46050	0.3694:0.1144:0.5162:0.0	.	.	.	.	D	458	.	.	N	+	1	0	TBC1D1	37774018	0.003000	0.15002	0.698000	0.30274	0.989000	0.77384	-0.893000	0.04127	-1.193000	0.02688	-0.250000	0.11733	AAC		0.413	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	116	6	116	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:76022612G>A	ENST00000237172.7	-	5	3266	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.S979F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTGACTGGGGACATGGCTCG	0.448																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2935-2937)tCc>tTc		filamin A interacting protein 1							94.0	91.0	92.0					6																	76022612		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022612G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2936C>T	6.37:g.76022612G>A	ENSP00000237172:p.Ser979Phe		Somatic				FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F	p.S979F			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3157	-			979					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2936C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793995	0.90453	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34472	1.37;1.36;1.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.54443	-0.8293	10	0.87932	D	0	-12.046	20.5568	0.99304	0.0:0.0:1.0:0.0	.	979;979;979	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	979;979;880	ENSP00000376728:S979F;ENSP00000237172:S979F;ENSP00000359037:S880F	ENSP00000237172:S979F	S	-	2	0	FILIP1	76079332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	TCC		0.448	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		8	171	8	171	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:159654416G>A	ENST00000297267.9	+	11	3072	c.2872G>A	c.(2872-2874)Gcg>Acg	p.A958T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	958					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGCACAGACGCGGACACGGA	0.622																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2872-2874)Gcg>Acg		fibronectin type III domain containing 1							53.0	64.0	60.0					6																	159654416		2175	4262	6437	SO:0001583	missense	84624					extracellular region		g.chr6:159654416G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2872G>A	6.37:g.159654416G>A	ENSP00000297267:p.Ala958Thr		Somatic				FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	p.A958T	NM_032532.2	NP_115921.2	WXS	Illumina GAIIx	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	958					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2872G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.465|9.465	1.093995|1.093995	0.20471|0.20471	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07800|.	3.16;4.0|.	4.26|4.26	-0.353|-0.353	0.12594|0.12594	.|.	2.304150|.	0.01786|.	N|.	0.032055|.	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.19935|.	0.04;0.024|.	B;B|.	0.11329|.	0.006;0.001|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.13108|.	T|.	0.6|.	0.0272|0.0272	1.513|1.513	0.02500|0.02500	0.118:0.1857:0.3177:0.3786|0.118:0.1857:0.3177:0.3786	.|.	895;958|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	958;895|853	ENSP00000297267:A958T;ENSP00000342460:A895T|.	ENSP00000297267:A958T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159574406|159574406	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.233000|0.233000	0.25261|0.25261	0.040000|0.040000	0.13905|0.13905	0.042000|0.042000	0.15717|0.15717	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	27	4	27	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser		Somatic				POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	WXS	Illumina GAIIx	Phase_I	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	208	7	208	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176782	142176782	+	RNA	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:142176782G>T	ENST00000390369.2	-	0	8									T cell receptor beta variable 7-4 (gene/pseudogene)																		AGAGGAGCCTGGTGCCCATGG	0.552																																						ENST00000390369.2																			0																				83.0	86.0	85.0					7																	142176782		1943	4129	6072			28594							g.chr7:142176782G>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176782G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	8	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.552	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		4	87	4	87	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:103291134G>T	ENST00000520539.1	-	44	6814	c.6208C>A	c.(6208-6210)Cca>Aca	p.P2070T	UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2070					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTGACTTGGACGGCCAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6208-6210)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 5							121.0	137.0	131.0					8																	103291134		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291134G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6208C>A	8.37:g.103291134G>T	ENSP00000429084:p.Pro2070Thr		Somatic				UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	p.P2070T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6814	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2070					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6208C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888785	0.91814	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53857	0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.55213	1.73	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.69760	-0.5058	10	0.62326	D	0.03	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	2064;2070	E7EMW7;O95071	.;UBR5_HUMAN	T	2070;2070;2064	ENSP00000429084:P2070T;ENSP00000220959:P2070T;ENSP00000427819:P2064T	ENSP00000220959:P2070T	P	-	1	0	UBR5	103360310	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.420000	0.97426	2.873000	0.98535	0.561000	0.74099	CCA		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		5	146	5	146	---	---	---	---
MRPL13	28998	broad.mit.edu	37	8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C	rs375407917		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:121426335A>C	ENST00000306185.3	-	6	701	c.410T>G	c.(409-411)aTt>aGt	p.I137S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	137					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTCTTAAGAATATCTTCTGG	0.289																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(409-411)aTt>aGt		mitochondrial ribosomal protein L13							81.0	77.0	79.0					8																	121426335		2203	4300	6503	SO:0001583	missense	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426335A>C	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.410T>G	8.37:g.121426335A>C	ENSP00000306548:p.Ile137Ser		Somatic					p.I137S	NM_014078.5	NP_054797.2	WXS	Illumina GAIIx	Phase_I	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	701	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		137					B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	37	c.410T>G	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277916	0.59758	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	5.74	0.90152	Ribosomal protein L13 domain (2);	0.147492	0.64402	D	0.000010	T	0.67011	0.2848	L	0.44542	1.39	0.80722	D	1	P	0.45396	0.857	P	0.60068	0.868	T	0.68413	-0.5415	9	0.62326	D	0.03	0.0055	13.8503	0.63492	1.0:0.0:0.0:0.0	.	137	Q9BYD1	RM13_HUMAN	S	137;113	.	ENSP00000306548:I137S	I	-	2	0	MRPL13	121495516	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.058000	0.89460	2.317000	0.78254	0.459000	0.35465	ATT		0.289	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		8	23	8	23	---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:107528754T>C	ENST00000374762.3	+	2	280	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTGAATTGGTTGGATTCTGG	0.328																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(208-210)gTt>gCt		nipsnap homolog 3B (C. elegans)							160.0	165.0	163.0					9																	107528754		2203	4300	6503	SO:0001583	missense	55335							g.chr9:107528754T>C	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.209T>C	9.37:g.107528754T>C	ENSP00000363894:p.Val70Ala		Somatic				NIPSNAP3B_ENST00000461177.1_Intron	p.V70A	NM_018376.2	NP_060846.2	WXS	Illumina GAIIx	Phase_I	Q9BS92	NPS3B_HUMAN			2	280	+			70					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.209T>C	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890332	0.72524	.	.	ENSG00000165028	ENST00000374762	T	0.57595	0.39	3.93	2.79	0.32731	Dimeric alpha-beta barrel (1);	0.125962	0.53938	D	0.000056	T	0.59307	0.2184	M	0.74389	2.26	0.35897	D	0.830078	P	0.49783	0.928	P	0.51657	0.676	T	0.67264	-0.5714	10	0.54805	T	0.06	0.8093	8.1805	0.31307	0.0:0.1:0.0:0.9	.	70	Q9BS92	NPS3B_HUMAN	A	70	ENSP00000363894:V70A	ENSP00000363894:V70A	V	+	2	0	NIPSNAP3B	106568575	1.000000	0.71417	0.931000	0.37212	0.972000	0.66771	4.157000	0.58144	0.670000	0.31165	0.528000	0.53228	GTT		0.328	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		10	111	10	111	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119106933	119106933	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:119106933C>T	ENST00000328252.3	+	14	4092	c.3723C>T	c.(3721-3723)agC>agT	p.S1241S	PAPPA_ENST00000534838.1_Silent_p.S279S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1241	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGAGCTGCCGGACAG	0.582																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3721-3723)agC>agT		pregnancy-associated plasma protein A, pappalysin 1							94.0	79.0	84.0					9																	119106933		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106933C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3723C>T	9.37:g.119106933C>T			Somatic				PAPPA_ENST00000534838.1_Silent_p.S279S	p.S1241S	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			14	4092	+			1241			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3723C>T	CCDS6813.1																																																																																				0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	83	4	83	---	---	---	---
C10orf10	11067	broad.mit.edu	37	10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:45473237G>T	ENST00000298295.3	-	2	459	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	81						mitochondrion (GO:0005739)				lung(1)	1						GTCTCGCAGGGACACAGCAGG	0.672																																						ENST00000298295.3																			0				lung(1)	1						c.(241-243)tCc>tAc		chromosome 10 open reading frame 10							40.0	42.0	41.0					10																	45473237		2203	4299	6502	SO:0001583	missense	11067					mitochondrion		g.chr10:45473237G>T	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.242C>A	10.37:g.45473237G>T	ENSP00000298295:p.Ser81Tyr		Somatic				RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	p.S81Y	NM_007021.3	NP_008952.1	WXS	Illumina GAIIx	Phase_I	Q9NTK1	DEPP_HUMAN			2	459	-			81					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.242C>A	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321161	0.41096	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.52295	0.67;0.67	4.92	4.92	0.64577	.	0.149124	0.31601	N	0.007370	T	0.54431	0.1858	L	0.34521	1.04	0.09310	N	0.999991	D	0.69078	0.997	D	0.63192	0.912	T	0.49762	-0.8905	10	0.87932	D	0	-14.7161	13.4743	0.61299	0.0:0.0:1.0:0.0	.	81	Q9NTK1	DEPP_HUMAN	Y	81	ENSP00000298295:S81Y;ENSP00000414494:S81Y	ENSP00000298295:S81Y	S	-	2	0	C10orf10	44793243	0.918000	0.31147	0.137000	0.22149	0.031000	0.12232	2.329000	0.43876	2.576000	0.86940	0.561000	0.74099	TCC		0.672	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		10	66	10	66	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(40-42)ttC>ttT		olfactory receptor, family 52, subfamily E, member 2							89.0	83.0	85.0					11																	5080816		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080816G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.42C>T	11.37:g.5080816G>A			Somatic					p.F14F	NM_001005164.2	NP_001005164.2	WXS	Illumina GAIIx	Phase_I	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	41	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	14						Silent	SNP	ENST00000321522.2	37	c.42C>T	CCDS31371.1																																																																																				0.483	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	44	4	44	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116692051	116692051	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:116692051C>T	ENST00000357780.3	-	3	837	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	241	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTGGAAGGTCAGGCCCTCAA	0.632																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(721-723)ctG>ctA		apolipoprotein A-IV							92.0	95.0	94.0					11																	116692051		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116692051C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.723G>A	11.37:g.116692051C>T			Somatic					p.L241L	NM_000482.3	NP_000473.2	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	837	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.723G>A	CCDS31681.1																																																																																				0.632	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		21	133	21	133	---	---	---	---
ZNF830	91603	broad.mit.edu	37	17	33289179	33289179	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	198					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CCTCTTCACGGGAGGTAACAA	0.507																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)cgG>cgT		zinc finger protein 830							66.0	61.0	62.0					17																	33289179		2203	4300	6503	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289179G>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.594G>T	17.37:g.33289179G>T			Somatic					p.R198R	NM_052857.3	NP_443089.3	WXS	Illumina GAIIx	Phase_I	Q96NB3	ZN830_HUMAN			1	631	+		Ovarian(249;0.17)	198					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.594G>T	CCDS32618.1																																																																																				0.507	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		3	36	3	36	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:47696450A>T	ENST00000393328.2	-	6	738	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000393331.3_Missense_Mutation_p.F125I|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.F125V(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(373-375)Ttt>Att		speckle-type POZ protein							120.0	123.0	122.0					17																	47696450		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696450A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.373T>A	17.37:g.47696450A>T	ENSP00000377001:p.Phe125Ile	Prostate(2;0.17)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000393328.2_Missense_Mutation_p.F125I	p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	843	-			125			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.373T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006836	0.93287	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77156	-0.2691	10	0.51188	T	0.08	-15.9789	15.258	0.73599	1.0:0.0:0.0:0.0	.	125	O43791	SPOP_HUMAN	I	125;125;125;125;9;125;78;125;125;125;125	ENSP00000377001:F125I;ENSP00000377004:F125I;ENSP00000240327:F125I;ENSP00000425905:F125I;ENSP00000420908:F125I;ENSP00000426986:F125I;ENSP00000420960:F125I;ENSP00000426262:F125I;ENSP00000424119:F125I	ENSP00000240327:F125I	F	-	1	0	SPOP	45051449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTT		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		46	88	46	88	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006353G>T	ENST00000397910.4	-	45	39868	c.39665C>A	c.(39664-39666)aCc>aAc	p.T13222N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13224	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CCTGAGCAAGGTCAGTCTGCA	0.502																																						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.(39664-39666)aCc>aAc		mucin 16, cell surface associated							102.0	82.0	89.0					19																	9006353		1994	4168	6162	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006353G>T	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.39665C>A	19.37:g.9006353G>T	ENSP00000381008:p.Thr13222Asn		Somatic					p.T13222N	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			45	39868	-			13224			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39665C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.73|11.73	1.726674|1.726674	0.30593|0.30593	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.33654	.|1.4	2.85|2.85	-2.75|-2.75	0.05914|0.05914	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	.|D;P	.|0.55172	.|0.97;0.908	.|P;P	.|0.61397	.|0.5;0.888	T|T	0.32188|0.32188	-0.9916|-0.9916	4|8	.|0.87932	.|D	.|0	-2.9317|-2.9317	2.6564|2.6564	0.05013|0.05013	0.2498:0.0:0.3639:0.3862|0.2498:0.0:0.3639:0.3862	.|.	.|20867;13222	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	62|13222;353	.|ENSP00000381008:T13222N	.|ENSP00000381008:T13222N	P|T	-|-	1|2	0|0	MUC16|MUC16	8867353|8867353	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.270000|-0.270000	0.08584|0.08584	-0.446000|-0.446000	0.07149|0.07149	0.455000|0.455000	0.32223|0.32223	CCT|ACC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	122	4	122	---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:15587012C>A	ENST00000340880.4	-	2	949	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.D157Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	157					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACAACATCTGGAAAGGTA	0.582																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(469-471)Gat>Tat		peptidoglycan recognition protein 2							80.0	75.0	77.0					19																	15587012		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587012C>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.469G>T	19.37:g.15587012C>A	ENSP00000345968:p.Asp157Tyr		Somatic				PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y	p.D157Y			WXS	Illumina GAIIx	Phase_I	Q96PD5	PGRP2_HUMAN			2	598	-			157					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.469G>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226544	0.39300	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.08102	3.2;3.13	3.56	2.51	0.30379	.	0.475652	0.17490	N	0.172382	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.58172	0.834;0.687	T	0.04005	-1.0985	10	0.72032	D	0.01	-13.5073	7.1839	0.25789	0.0:0.8693:0.0:0.1307	.	157;157	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	157	ENSP00000345968:D157Y;ENSP00000292609:D157Y	ENSP00000292609:D157Y	D	-	1	0	PGLYRP2	15448012	0.000000	0.05858	0.021000	0.16686	0.034000	0.12701	-0.010000	0.12743	0.625000	0.30304	0.467000	0.42956	GAT		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		10	54	10	54	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:42396405C>A	ENST00000354532.3	+	6	476	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	110	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGCAGGTTCTCCGGGTGCC	0.612																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(328-330)Ctc>Atc		Rho guanine nucleotide exchange factor (GEF) 1							136.0	126.0	130.0					19																	42396405		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396405C>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.328C>A	19.37:g.42396405C>A	ENSP00000346532:p.Leu110Ile		Somatic				ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I	p.L110I			WXS	Illumina GAIIx	Phase_I	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	6	453	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	110			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.328C>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567821	0.65651	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.04	3.0	0.34707	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.100598	0.41001	D	0.000973	D	0.90741	0.7094	M	0.76838	2.35	0.39536	D	0.968744	D;D;D;D;D	0.89917	0.999;0.997;0.998;1.0;0.998	D;D;D;D;D	0.91635	0.998;0.999;0.99;0.999;0.999	D	0.91086	0.4903	10	0.87932	D	0	-6.3048	9.7205	0.40300	0.0:0.8953:0.0:0.1047	.	92;125;77;110;170	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	I	110;77;146;125;92	ENSP00000346532:L110I;ENSP00000344429:L77I;ENSP00000337261:L125I;ENSP00000367394:L92I	ENSP00000323044:L146I	L	+	1	0	ARHGEF1	47088245	0.861000	0.29849	0.938000	0.37757	0.772000	0.43724	2.134000	0.42102	1.070000	0.40811	0.306000	0.20318	CTC		0.612	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		5	134	5	134	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281299	1281299	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:1281299G>T	ENST00000381873.3	+	5	488	c.252G>T	c.(250-252)gtG>gtT	p.V84V	SNPH_ENST00000381867.1_Silent_p.V128V	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	84					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAGGAGGTGTGCATCCGGC	0.652																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(382-384)gtG>gtT		syntaphilin							46.0	42.0	43.0					20																	1281299		2202	4300	6502	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1281299G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.252G>T	20.37:g.1281299G>T			Somatic				SNPH_ENST00000381873.3_Silent_p.V84V	p.V128V			WXS	Illumina GAIIx	Phase_I	O15079	SNPH_HUMAN			6	1026	+			84					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.384G>T	CCDS13012.1																																																																																				0.652	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		7	36	7	36	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:5283271G>T	ENST00000217270.3	-	2	569	c.570C>A	c.(568-570)taC>taA	p.Y190*	PROKR2_ENST00000546004.1_Nonsense_Mutation_p.Y190*	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	190					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGTTGCAAAGTAAGCCGATG	0.498										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(568-570)taC>taA		prokineticin receptor 2							149.0	150.0	149.0					20																	5283271		2203	4300	6503	SO:0001587	stop_gained	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283271G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.570C>A	20.37:g.5283271G>T	ENSP00000217270:p.Tyr190*	HNSCC(71;0.22)	Somatic				PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*	p.Y190*			WXS	Illumina GAIIx	Phase_I	Q8NFJ6	PKR2_HUMAN			3	816	-			190					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Nonsense_Mutation	SNP	ENST00000217270.3	37	c.570C>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778585	0.96929	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	.	.	.	5.31	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.9267	0.41496	0.1492:0.0:0.8508:0.0	.	.	.	.	X	190	.	ENSP00000217270:Y190X	Y	-	3	2	PROKR2	5231271	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.543000	0.36147	2.499000	0.84300	0.655000	0.94253	TAC		0.498	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		6	123	6	123	---	---	---	---
