#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
FAM131C	348487	broad.mit.edu	37	1	16390042	16390042	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:16390042C>T	ENST00000375662.4	-	2	295	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	FAM131C_ENST00000494078.1_Intron	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	38										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGAGCCACGGTGGGAGTG	0.632																																						uc001axz.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(112-114)Gtg>Atg		Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.							52.0	60.0	57.0					1																	16390042		2079	4188	6267	SO:0001583	missense	348487							g.chr1:16390042C>T		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.112G>A	1.37:g.16390042C>T	ENSP00000364814:p.Val38Met						p.V38M	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	1	302	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	38					Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	37	c.112G>A	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170444	0.21621	.	.	ENSG00000185519	ENST00000375662	T	0.14766	2.48	5.25	-10.5	0.00291	.	2.858650	0.01043	N	0.004321	T	0.06690	0.0171	N	0.16478	0.41	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.18840	-1.0324	10	0.46703	T	0.11	13.5278	4.0318	0.09713	0.1041:0.4727:0.2087:0.2145	.	38	Q96AQ9	F131C_HUMAN	M	38	ENSP00000364814:V38M	ENSP00000364814:V38M	V	-	1	0	FAM131C	16262629	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.723000	0.00194	-2.662000	0.00418	-1.174000	0.01732	GTG		0.632	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	
RCAN3	11123	broad.mit.edu	37	1	24857822	24857822	+	Nonsense_Mutation	SNP	C	C	T	rs535171467		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:24857822C>T	ENST00000374395.4	+	3	623	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RCAN3_ENST00000412742.2_Nonsense_Mutation_p.R104*|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000436717.2_Nonsense_Mutation_p.R104*|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000374393.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	104					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGCAAGAGCGCGAATAGAACT	0.413																																						uc021ojc.1																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(310-312)Cga>Tga		Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.							62.0	65.0	64.0					1																	24857822		2203	4300	6503	SO:0001587	stop_gained	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24857822C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.310C>T	1.37:g.24857822C>T	ENSP00000363516:p.Arg104*					RCAN3_uc021ojd.1_5'UTR|RCAN3_uc021oje.1_Nonsense_Mutation_p.R104*|RCAN3_uc001bjj.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.3_Intron|RCAN3_uc021ojf.1_5'UTR|RCAN3_uc021ojg.1_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vrf.3_Nonsense_Mutation_p.R104*	p.R104*	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	2	482	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	104					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Nonsense_Mutation	SNP	ENST00000374395.4	37	c.310C>T	CCDS254.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559596	0.96514	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.7291	14.926	0.70878	0.143:0.857:0.0:0.0	.	.	.	.	X	104	.	ENSP00000363516:R104X	R	+	1	2	RCAN3	24730409	1.000000	0.71417	0.685000	0.30070	0.971000	0.66376	5.439000	0.66556	2.748000	0.94277	0.650000	0.86243	CGA		0.413	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2		
GRIK3	2899	broad.mit.edu	37	1	37285426	37285426	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:37285426T>C	ENST00000373091.3	-	12	1800	c.1784A>G	c.(1783-1785)cAc>cGc	p.H595R	GRIK3_ENST00000373093.4_Missense_Mutation_p.H595R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	595					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTGCAGGGGTGAGCATCGTA	0.562																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1783-1785)cAc>cGc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						91.0	70.0	77.0					1																	37285426		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37285426T>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1784A>G	1.37:g.37285426T>C	ENSP00000362183:p.His595Arg					GRIK3_uc001cba.1_Missense_Mutation_p.H595R	p.H595R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			11	1919	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	595					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1784A>G	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260081	0.80246	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.97328	-4.34;-4.34	5.2	5.2	0.72013	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	M	0.72353	2.195	0.80722	D	1	D;D	0.67145	0.988;0.996	D;D	0.74674	0.962;0.984	D	0.99104	1.0844	10	0.87932	D	0	.	15.0731	0.72056	0.0:0.0:0.0:1.0	.	595;595	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	595	ENSP00000362183:H595R;ENSP00000362185:H595R	ENSP00000362183:H595R	H	-	2	0	GRIK3	37058013	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	8.036000	0.88901	1.943000	0.56356	0.379000	0.24179	CAC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
SLC44A5	204962	broad.mit.edu	37	1	75679448	75679448	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:75679448C>G	ENST00000370855.5	-	22	2017	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.R505T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R635T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	635					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTGGCAGTCTTTGTGTGAA	0.378																																						uc010oqz.1																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2020-2022)aGa>aCa		Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.							95.0	90.0	92.0					1																	75679448		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75679448C>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1904G>C	1.37:g.75679448C>G	ENSP00000359892:p.Arg635Thr					SLC44A5_uc001dgt.2_Missense_Mutation_p.R635T|SLC44A5_uc001dgs.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgr.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgu.3_Missense_Mutation_p.R635T|SLC44A5_uc010ora.2_Missense_Mutation_p.R629T|SLC44A5_uc010orb.2_Missense_Mutation_p.R505T	p.R674T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN			20	2087	-			635					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2021G>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588719	0.28357	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.19669	2.13;2.13;2.13	5.26	-0.0961	0.13638	.	0.410282	0.31697	N	0.007204	T	0.20740	0.0499	M	0.73598	2.24	0.09310	N	0.999996	P;D;P;P;D	0.54964	0.828;0.969;0.828;0.949;0.961	P;P;P;P;P	0.61477	0.821;0.889;0.821;0.848;0.823	T	0.14309	-1.0477	10	0.27785	T	0.31	-7.1634	9.8097	0.40815	0.0:0.5604:0.0:0.4396	.	629;674;635;635;674	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	635;674;635;505;628	ENSP00000359896:R635T;ENSP00000359892:R635T;ENSP00000443090:R505T	ENSP00000359892:R635T	R	-	2	0	SLC44A5	75452036	0.000000	0.05858	0.070000	0.20053	0.012000	0.07955	-0.358000	0.07641	0.024000	0.15214	0.585000	0.79938	AGA		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A	rs558340256	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:152187697G>A	ENST00000368801.2	-	3	6483	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557													G|||	3	0.000599042	0.0023	0.0	5008	,	,		56528	0.0		0.0	False		,,,				2504	0.0					uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6406-6408)caC>caT		Homo sapiens hornerin (HRNR), mRNA.							100.0	110.0	106.0					1																	152187697		1607	3273	4880	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187697G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6408C>T	1.37:g.152187697G>A							p.H2136H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2136					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6408C>T	CCDS30859.1																																																																																				0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						uc001has.1																			1	Substitution - coding silent(1)	p.R62R(2)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		Homo sapiens golgi transport 1A (GOLT1A), mRNA.							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T						GOLT1A_uc001hat.1_Silent_p.R62R	p.R62R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		2	372	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447	
NID1	4811	broad.mit.edu	37	1	236189279	236189279	+	Missense_Mutation	SNP	G	G	A	rs147220938		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:236189279G>A	ENST00000264187.6	-	8	1983	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	NID1_ENST00000366595.3_Missense_Mutation_p.S634L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	634	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTGTCCACCGAGAGCTGCTG	0.592																																						uc001hxo.3																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1900-1902)tCg>tTg		Homo sapiens nidogen 1 (NID1), mRNA.	Becaplermin(DB00102)|Urokinase(DB00013)	G	LEU/SER	0,4406		0,0,2203	168.0	154.0	159.0		1901	4.1	1.0	1	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense	NID1	NM_002508.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	634/1248	236189279	1,13005	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189279G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1901C>T	1.37:g.236189279G>A	ENSP00000264187:p.Ser634Leu					NID1_uc009xgd.3_Missense_Mutation_p.S634L	p.S634L	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	2003	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	634			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1901C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405789	0.62288	0.0	1.16E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.24908	1.83;1.83	5.02	4.09	0.47781	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.273858	0.41001	D	0.000974	T	0.35740	0.0942	M	0.65498	2.005	0.43499	D	0.995743	D;D	0.71674	0.998;0.957	P;B	0.50405	0.64;0.127	T	0.08700	-1.0709	10	0.35671	T	0.21	.	13.8538	0.63513	0.075:0.0:0.925:0.0	.	634;634	P14543-2;P14543	.;NID1_HUMAN	L	634	ENSP00000264187:S634L;ENSP00000355554:S634L	ENSP00000264187:S634L	S	-	2	0	NID1	234255902	1.000000	0.71417	0.959000	0.39883	0.998000	0.95712	4.548000	0.60718	2.600000	0.87896	0.655000	0.94253	TCG		0.592	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
OPN4	94233	broad.mit.edu	37	10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A	rs368062538		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr10:88418396G>A	ENST00000241891.5	+	4	747	c.580G>A	c.(580-582)Gtt>Att	p.V194I	OPN4_ENST00000372071.2_Missense_Mutation_p.V205I	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	194					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19596	0.0		0.0	False		,,,				2504	0.0					uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(613-615)Gtt>Att		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	74.0	69.0	71.0		580,613	3.3	0.8	10		71	0,8600		0,0,4300	no	missense,missense	OPN4	NM_033282.3,NM_001030015.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/479,205/490	88418396	1,13005	2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418396G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.580G>A	10.37:g.88418396G>A	ENSP00000241891:p.Val194Ile					OPN4_uc001kdp.3_Missense_Mutation_p.V205I|OPN4_uc001kdq.3_Missense_Mutation_p.V194I|OPN4_uc009xsx.1_5'Flank	p.V205I	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN			4	840	+			194					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.613G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884347	0.51908	2.27E-4	0.0	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.73152	-0.72;-0.72;-0.72	5.22	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.220957	0.38217	N	0.001773	T	0.56848	0.2013	L	0.35288	1.05	0.39913	D	0.974053	B;B;B	0.27951	0.195;0.115;0.082	B;B;B	0.29524	0.103;0.072;0.014	T	0.49224	-0.8962	10	0.25106	T	0.35	.	10.0691	0.42322	0.1727:0.0:0.8273:0.0	.	205;194;205	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	I	205;194;205	ENSP00000361141:V205I;ENSP00000241891:V194I;ENSP00000393132:V205I	ENSP00000241891:V194I	V	+	1	0	OPN4	88408376	1.000000	0.71417	0.782000	0.31804	0.934000	0.57294	3.904000	0.56325	0.545000	0.28902	0.561000	0.74099	GTT		0.647	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282	
SCUBE2	57758	broad.mit.edu	37	11	9074727	9074727	+	Missense_Mutation	SNP	G	G	A	rs77907325	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:9074727G>A	ENST00000309263.3	-	12	1438	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R456C|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R456C			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	456						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		19896	0.002		0.0	False		,,,				2504	0.0					uc001mhi.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1366-1368)Cgt>Tgt		Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.		G	,CYS/ARG	0,4402		0,0,2201	86.0	70.0	75.0		,1366	4.8	0.4	11	dbSNP_131	75	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense	SCUBE2	NM_001170690.1,NM_020974.2	,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,456/972	9074727	1,12993	2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9074727G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1366C>T	11.37:g.9074727G>A	ENSP00000310658:p.Arg456Cys					SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	p.R456C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	11	1441	-			456					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1366C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.31	3.596022	0.66332	0.0	1.16E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;T;D	0.81908	-1.37;-1.43;-1.55	5.82	4.83	0.62350	.	0.488222	0.24683	N	0.036442	T	0.77485	0.4137	N	0.12961	0.28	0.43527	D	0.995809	D;D	0.60160	0.987;0.977	P;P	0.51229	0.663;0.462	T	0.80609	-0.1306	10	0.66056	D	0.02	.	13.613	0.62091	0.0:0.0:0.7354:0.2646	.	456;456	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	C	456	ENSP00000390481:R456C;ENSP00000310658:R456C;ENSP00000429969:R456C	ENSP00000310658:R456C	R	-	1	0	SCUBE2	9031303	0.947000	0.32204	0.391000	0.26233	0.801000	0.45260	1.574000	0.36482	2.756000	0.94617	0.561000	0.74099	CGT		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
TMPRSS4	56649	broad.mit.edu	37	11	117985881	117985881	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:117985881G>A	ENST00000437212.3	+	11	1252	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_ENST00000534111.1_Silent_p.A344A|TMPRSS4_ENST00000522307.1_Silent_p.A199A|TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000523251.1_Silent_p.A306A|TMPRSS4_ENST00000522824.1_Silent_p.A341A			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552																																						uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(1036-1038)gcG>gcA		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.							90.0	70.0	77.0					11																	117985881		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117985881G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1038G>A	11.37:g.117985881G>A						TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	p.A346A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	10	1329	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	346			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.1038G>A	CCDS31684.1																																																																																				0.552	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
MFRP	83552	broad.mit.edu	37	11	119216274	119216274	+	Missense_Mutation	SNP	G	G	C	rs200251814		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:119216274G>C	ENST00000530681.1	-	5	641	c.497C>G	c.(496-498)cCc>cGc	p.P166R	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.P166R|MFRP_ENST00000449574.2_Missense_Mutation_p.P166R|MFRP_ENST00000360167.4_Missense_Mutation_p.P166R|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	166	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTGGGTGTTGGGGGGGTAAGG	0.567																																						uc010rzg.1																			0				endometrium(1)|lung(2)	3						c.(496-498)cCc>cGc		Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.							51.0	50.0	50.0					11																	119216274		2199	4295	6494	SO:0001583	missense	83552				embryo development	integral to membrane		g.chr11:119216274G>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.497C>G	11.37:g.119216274G>C	ENSP00000456533:p.Pro166Arg					C1QTNF5_uc001pwj.2_5'UTR	p.P166R			Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	4	657	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	166			CUB 1.		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.497C>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318150	0.40996	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.30714	1.52;1.52;1.52	4.0	3.09	0.35607	CUB (5);	0.202171	0.42053	D	0.000771	T	0.46814	0.1412	L	0.58510	1.815	0.47659	D	0.999487	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.38178	-0.9673	10	0.52906	T	0.07	-9.1363	8.724	0.34458	0.0821:0.0:0.7691:0.1488	.	166;166	B4DHN8;Q9BY79	.;MFRP_HUMAN	R	166	ENSP00000450509:P166R;ENSP00000391664:P166R;ENSP00000353291:P166R	ENSP00000353291:P166R	P	-	2	0	MFRP	118721484	1.000000	0.71417	0.862000	0.33874	0.486000	0.33341	4.144000	0.58057	1.030000	0.39839	-0.291000	0.09656	CCC		0.567	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
POU2F3	25833	broad.mit.edu	37	11	120168973	120168973	+	Splice_Site	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:120168973G>C	ENST00000543440.2	+	4	282		c.e4-1		POU2F3_ENST00000260264.4_Splice_Site	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCACTTGCAGATTAAAACCG	0.547																																						uc021qrk.1																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.e4-1		Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.							278.0	273.0	275.0					11																	120168973		2203	4300	6503	SO:0001630	splice_region_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120168973G>C	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.133-1G>C	11.37:g.120168973G>C						POU2F3_uc001pxc.3_Splice_Site_p.I45_splice|POU2F3_uc010rzk.2_Splice_Site|POU2F3_uc010rzl.2_Splice_Site	p.I47_splice	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	173	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	45					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Splice_Site	SNP	ENST00000543440.2	37	c.139_splice	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009842	0.75046	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3414	0.83083	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F3	119674183	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.932000	0.87634	2.319000	0.78375	0.655000	0.94253	.		0.547	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		Intron
ZNF202	7753	broad.mit.edu	37	11	123600382	123600382	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:123600382C>A	ENST00000529691.1	-	3	773	c.554G>T	c.(553-555)gGg>gTg	p.G185V	ZNF202_ENST00000336139.4_Missense_Mutation_p.G185V|ZNF202_ENST00000530393.1_Missense_Mutation_p.G185V			O95125	ZN202_HUMAN	zinc finger protein 202	185					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCCGGTGCCCCCAGATCTGG	0.607																																						uc001pzd.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(553-555)gGg>gTg		Homo sapiens zinc finger protein 202 (ZNF202), mRNA.							56.0	50.0	52.0					11																	123600382		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123600382C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.554G>T	11.37:g.123600382C>A	ENSP00000433881:p.Gly185Val					ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G185V|ZNF202_uc001pzf.1_Missense_Mutation_p.G185V	p.G185V	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	4	954	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.554G>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	7.915	0.737276	0.15574	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06687	3.27;3.27;3.27	5.32	2.33	0.28932	.	0.569626	0.14802	N	0.297568	T	0.05640	0.0148	L	0.29908	0.895	0.37933	D	0.932082	B	0.32968	0.392	B	0.29716	0.106	T	0.43442	-0.9391	10	0.30854	T	0.27	-12.761	6.107	0.20079	0.0:0.6683:0.0:0.3317	.	185	O95125	ZN202_HUMAN	V	185	ENSP00000337724:G185V;ENSP00000432504:G185V;ENSP00000433881:G185V	ENSP00000337724:G185V	G	-	2	0	ZNF202	123105592	0.000000	0.05858	0.200000	0.23457	0.436000	0.31835	0.245000	0.18142	0.567000	0.29293	0.557000	0.71058	GGG		0.607	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
ACAD8	27034	broad.mit.edu	37	11	134128470	134128470	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:134128470C>T	ENST00000281182.4	+	4	548	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.P71S|ACAD8_ENST00000543332.1_Missense_Mutation_p.P50S|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	148					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	ATTTTGCCCACCGCTCTGTAC	0.468																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.3																			0		p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(442-444)Ccg>Tcg		Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.							137.0	96.0	110.0					11																	134128470		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134128470C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.442C>T	11.37:g.134128470C>T	ENSP00000281182:p.Pro148Ser					ACAD8_uc009zdc.3_Missense_Mutation_p.P50S|ACAD8_uc010sco.1_Missense_Mutation_p.P50S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P71S|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.P110S|ACAD8_uc009zde.1_Missense_Mutation_p.P21S	p.P148S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	3	503	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	148					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.442C>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419585	0.25552	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99724	-6.54;-6.54;-5.34	5.29	3.37	0.38596	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.307091	0.35235	N	0.003355	D	0.97334	0.9128	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B	0.12013	0.001;0.002;0.005;0.0;0.0	B;B;B;B;B	0.11329	0.003;0.006;0.004;0.002;0.003	D	0.94745	0.7922	10	0.27785	T	0.31	.	4.8313	0.13441	0.0:0.5774:0.1754:0.2471	.	89;71;50;50;148	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	S	148;71;50;110	ENSP00000281182:P148S;ENSP00000443763:P71S;ENSP00000438302:P50S	ENSP00000281182:P148S	P	+	1	0	ACAD8	133633680	0.269000	0.24143	0.885000	0.34714	0.994000	0.84299	1.864000	0.39469	1.183000	0.42943	0.655000	0.94253	CCG		0.468	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384	
TMEM117	84216	broad.mit.edu	37	12	44782427	44782427	+	Missense_Mutation	SNP	C	C	T	rs150984405		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:44782427C>T	ENST00000266534.3	+	8	1644	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.T402M|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	506						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGACCCAACGACTTCTAAA	0.398																																						uc001rod.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1516-1518)aCg>aTg		Homo sapiens transmembrane protein 117 (TMEM117), mRNA.		C	MET/THR	0,4406		0,0,2203	139.0	132.0	135.0		1517	-1.3	0.0	12	dbSNP_134	135	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMEM117	NM_032256.1	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	506/515	44782427	1,13003	2203	4299	6502	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782427C>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1517C>T	12.37:g.44782427C>T	ENSP00000266534:p.Thr506Met					TMEM117_uc001roe.3_Missense_Mutation_p.T402M|TMEM117_uc009zkc.3_3'UTR	p.T506M	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	7	1583	+	Lung SC(27;0.192)		506						Missense_Mutation	SNP	ENST00000266534.3	37	c.1517C>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.478902	0.01035	0.0	1.16E-4	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.44881	0.91	5.73	-1.3	0.09259	.	1.432960	0.04131	N	0.317952	T	0.26048	0.0635	N	0.08118	0	0.09310	N	1	B;B	0.27286	0.001;0.174	B;B	0.23018	0.001;0.043	T	0.27673	-1.0067	10	0.38643	T	0.18	-0.0952	13.2027	0.59778	0.0:0.4647:0.0:0.5353	.	402;506	F5H3Q2;Q9H0C3	.;TM117_HUMAN	M	506;402;254	ENSP00000266534:T506M	ENSP00000266534:T506M	T	+	2	0	TMEM117	43068694	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.224000	0.09164	-0.152000	0.11156	-0.769000	0.03391	ACG		0.398	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
NR2C1	7181	broad.mit.edu	37	12	95425195	95425195	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:95425195G>A	ENST00000333003.5	-	11	1653	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	NR2C1_ENST00000393101.3_Silent_p.C441C|NR2C1_ENST00000330677.7_Silent_p.C441C|NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	441					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCACTTGCCAGCACTGGGCAA	0.368																																						uc001tdm.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1321-1323)tgC>tgT		Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.							124.0	127.0	126.0					12																	95425195		2203	4300	6503	SO:0001819	synonymous_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95425195G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1323C>T	12.37:g.95425195G>A						NR2C1_uc010suu.1_Intron|NR2C1_uc001tdn.4_Silent_p.C441C|NR2C1_uc001tdo.4_Silent_p.C441C	p.C441C	NM_003297	NP_003288	P13056	NR2C1_HUMAN			10	1579	-			441					A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	c.1323C>T	CCDS9051.1																																																																																				0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
VPS29	51699	broad.mit.edu	37	12	110929907	110929907	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:110929907A>G	ENST00000549578.1	-	4	517	c.452T>C	c.(451-453)gTg>gCg	p.V151A	VPS29_ENST00000549970.1_Missense_Mutation_p.V56A|VPS29_ENST00000360579.7_Missense_Mutation_p.V155A|VPS29_ENST00000447578.2_Missense_Mutation_p.V56A|VPS29_ENST00000546588.1_Missense_Mutation_p.V183A|VPS29_ENST00000552130.2_Missense_Mutation_p.V56A	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	151					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCATCAACACAAATGATGG	0.328																																						uc001tqy.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(451-453)gTg>gCg		Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.							120.0	103.0	109.0					12																	110929907		1852	4101	5953	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110929907A>G	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.452T>C	12.37:g.110929907A>G	ENSP00000447058:p.Val151Ala					VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.V155A|VPS29_uc001tqz.3_Non-coding_Transcript	p.V151A	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN			3	512	-			151					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.452T>C	CCDS41832.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278467	0.59758	.	.	ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	6.07	6.07	0.98685	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.023;0.033	B;B	0.28709	0.093;0.081	T	0.14896	-1.0456	10	0.29301	T	0.29	-8.2729	16.6288	0.85011	1.0:0.0:0.0:0.0	.	151;155	Q9UBQ0;Q9UBQ0-2	VPS29_HUMAN;.	A	151;155;56;56;183;56	ENSP00000447058:V151A;ENSP00000449954:V56A;ENSP00000400048:V56A;ENSP00000449044:V183A;ENSP00000447634:V56A	ENSP00000380795:V155A	V	-	2	0	VPS29	109414290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.326000	0.78906	0.533000	0.62120	GTG		0.328	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1		
KSR2	283455	broad.mit.edu	37	12	118198984	118198984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:118198984G>A	ENST00000339824.5	-	4	1545	c.818C>T	c.(817-819)cCg>cTg	p.P273L	KSR2_ENST00000425217.1_Missense_Mutation_p.P244L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	273	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGCCCGGCGGGGTCACGGT	0.701																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(730-732)cCg>cTg		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							74.0	90.0	85.0					12																	118198984		1863	4088	5951	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198984G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.818C>T	12.37:g.118198984G>A	ENSP00000339952:p.Pro273Leu						p.P244L	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	786	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		273			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.731C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.600357	0.87055	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.59906	0.23;0.23	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78259	-0.2273	10	0.72032	D	0.01	.	17.8888	0.88865	0.0:0.0:1.0:0.0	.	273	Q6VAB6	KSR2_HUMAN	L	244;273	ENSP00000389715:P244L;ENSP00000339952:P273L	ENSP00000339952:P273L	P	-	2	0	KSR2	116683367	1.000000	0.71417	0.917000	0.36280	0.753000	0.42808	9.388000	0.97237	2.299000	0.77371	0.484000	0.47621	CCG		0.701	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
ARHGAP5	394	broad.mit.edu	37	14	32561686	32561686	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr14:32561686A>T	ENST00000345122.3	+	2	2126	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D604V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D604V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D604V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	604					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGGGAAGGATGGCCTTGCC	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1810-1812)gAt>gTt		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							94.0	91.0	92.0					14																	32561686		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561686A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1811A>T	14.37:g.32561686A>T	ENSP00000371897:p.Asp604Val					ARHGAP5_uc001wrm.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.D604V	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2050	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		604					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1811A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372488	0.42003	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.72	5.72	0.89469	.	0.043232	0.85682	D	0.000000	T	0.32941	0.0846	L	0.49126	1.545	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.73380	0.98;0.955	T	0.01795	-1.1272	10	0.87932	D	0	.	16.3035	0.82836	1.0:0.0:0.0:0.0	.	604;604	Q13017-2;Q13017	.;RHG05_HUMAN	V	604	ENSP00000452222:D604V;ENSP00000441692:D604V;ENSP00000371897:D604V;ENSP00000393307:D604V	ENSP00000371897:D604V	D	+	2	0	ARHGAP5	31631437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	2.299000	0.77371	0.528000	0.53228	GAT		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:28846701C>T	ENST00000336783.4	+	20	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632																																						uc002dqy.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2665-2667)gCg>gTg		Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.							45.0	44.0	44.0					16																	28846701		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846701C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2666C>T	16.37:g.28846701C>T	ENSP00000338718:p.Ala889Val					NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.A889V|ATXN2L_uc002dra.3_Missense_Mutation_p.A889V|ATXN2L_uc002drb.3_Missense_Mutation_p.A889V|ATXN2L_uc002drc.3_Missense_Mutation_p.A889V|ATXN2L_uc010vdb.2_Missense_Mutation_p.A895V|ATXN2L_uc002dre.3_Missense_Mutation_p.A889V|ATXN2L_uc002drf.3_Missense_Mutation_p.A298V|ATXN2L_uc002drg.3_Missense_Mutation_p.A171V	p.A889V	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN			19	2833	+			889					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2666C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.552144	0.27739	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50548	0.74;0.76;0.74;0.74;0.75	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.55862	0.1947	N	0.24115	0.695	0.51012	D	0.999907	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.991;0.98;0.98;0.991;0.991;0.98;0.991	T	0.57596	-0.7784	10	0.48119	T	0.1	-10.6994	17.2962	0.87171	0.0:1.0:0.0:0.0	.	889;889;889;889;889;889;889	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	889	ENSP00000341459:A889V;ENSP00000378917:A889V;ENSP00000338718:A889V;ENSP00000372133:A889V;ENSP00000315650:A889V	ENSP00000315650:A889V	A	+	2	0	ATXN2L	28754202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.613000	0.88420	0.563000	0.77884	GCG		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ITGAX	3687	broad.mit.edu	37	16	31384692	31384692	+	Missense_Mutation	SNP	G	G	A	rs200320669		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:31384692G>A	ENST00000268296.4	+	20	2610	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R830H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	830					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCCTACCGCTACGTGGCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16396	0.0		0.0	False		,,,				2504	0.0					uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2488-2490)cGc>cAc		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							95.0	65.0	75.0					16																	31384692		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31384692G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2489G>A	16.37:g.31384692G>A	ENSP00000268296:p.Arg830His					ITGAX_uc002ebu.1_Missense_Mutation_p.R830H	p.R830H	NM_000887	NP_000878	P20702	ITAX_HUMAN			19	2556	+			830					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2489G>A	CCDS10711.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.30	2.197261	0.38806	.	.	ENSG00000140678	ENST00000268296	T	0.48522	0.81	4.93	3.95	0.45737	Integrin alpha-2 (1);	.	.	.	.	T	0.66366	0.2782	M	0.73962	2.25	0.33595	D	0.601634	D	0.89917	1.0	D	0.73708	0.981	T	0.77273	-0.2649	9	0.87932	D	0	.	12.0217	0.53348	0.0:0.0:0.8265:0.1735	.	830	P20702	ITAX_HUMAN	H	830	ENSP00000268296:R830H	ENSP00000268296:R830H	R	+	2	0	ITGAX	31292193	0.960000	0.32886	0.288000	0.24862	0.036000	0.12997	3.625000	0.54238	1.403000	0.46800	0.591000	0.81541	CGC		0.622	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
KRT23	25984	broad.mit.edu	37	17	39092707	39092707	+	Missense_Mutation	SNP	C	C	T	rs148371500		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39092707C>T	ENST00000209718.3	-	2	573	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGCAGCTCCGCGTGGTGAA	0.692																																						uc002hvm.1																			0		p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(148-150)cGg>cAg		Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.							47.0	52.0	50.0					17																	39092707		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092707C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.149G>A	17.37:g.39092707C>T	ENSP00000209718:p.Arg50Gln					KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	p.R50Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			1	738	-		Breast(137;0.000301)|Ovarian(249;0.15)	50			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.149G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847538	0.17034	.	.	ENSG00000108244	ENST00000209718	D	0.82433	-1.61	5.73	3.66	0.41972	.	0.115763	0.39210	N	0.001440	T	0.63189	0.2490	N	0.08118	0	0.26814	N	0.968947	P	0.41188	0.741	B	0.29663	0.105	T	0.57602	-0.7783	10	0.29301	T	0.29	.	15.9221	0.79583	0.0:0.3987:0.6013:0.0	.	50	Q9C075	K1C23_HUMAN	Q	50	ENSP00000209718:R50Q	ENSP00000209718:R50Q	R	-	2	0	KRT23	36346233	0.980000	0.34600	0.105000	0.21289	0.102000	0.19082	2.047000	0.41269	1.422000	0.47177	-0.357000	0.07601	CGG		0.692	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		
KRTAP4-9	100132386	broad.mit.edu	37	17	39262036	39262036	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39262036C>T	ENST00000391415.1	+	1	453	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	132	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgtgtgtccagctgctgca	0.662																																						uc010wfp.2																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(394-396)tcC>tcT		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							8.0	14.0	12.0					17																	39262036		679	1580	2259	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262036C>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.396C>T	17.37:g.39262036C>T							p.S132S	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	396	+			132			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.396C>T	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
DGKE	8526	broad.mit.edu	37	17	54940030	54940030	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:54940030G>T	ENST00000284061.3	+	12	1762	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	528					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGCCCAAGGGCCCTGCAC	0.448																																						uc002iur.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1582-1584)Ggg>Tgg		Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.							46.0	40.0	42.0					17																	54940030		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940030G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1582G>T	17.37:g.54940030G>T	ENSP00000284061:p.Gly528Trp					DGKE_uc002ius.1_3'UTR	p.G528W	NM_003647	NP_003638	P52429	DGKE_HUMAN			11	1762	+	Breast(9;3.59e-07)		528					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1582G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861208	0.91433	.	.	ENSG00000153933	ENST00000284061	T	0.45668	0.89	5.8	5.8	0.92144	.	0.044405	0.85682	D	0.000000	T	0.64091	0.2567	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.64241	-0.6454	10	0.72032	D	0.01	.	20.1103	0.97910	0.0:0.0:1.0:0.0	.	528	P52429	DGKE_HUMAN	W	528	ENSP00000284061:G528W	ENSP00000284061:G528W	G	+	1	0	DGKE	52295029	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.325000	0.96381	2.746000	0.94184	0.644000	0.83932	GGG		0.448	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
CASKIN2	57513	broad.mit.edu	37	17	73498864	73498864	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:73498864G>C	ENST00000321617.3	-	18	2877	c.2291C>G	c.(2290-2292)tCt>tGt	p.S764C	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S682C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	764	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCTAGAGGGTGAGCC	0.667																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2290-2292)tCt>tGt		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.							11.0	12.0	11.0					17																	73498864		1947	4007	5954	SO:0001583	missense	57513					cytoplasm		g.chr17:73498864G>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2291C>G	17.37:g.73498864G>C	ENSP00000325355:p.Ser764Cys					CASKIN2_uc010wsc.2_Missense_Mutation_p.S682C	p.S764C	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2841	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		764			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2291C>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118880	0.56505	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69926	-0.44;-0.26	4.87	4.87	0.63330	.	0.149537	0.31495	N	0.007549	T	0.62196	0.2408	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	P	0.50231	0.635	T	0.67277	-0.5711	10	0.62326	D	0.03	.	15.3057	0.73990	0.0:0.0:1.0:0.0	.	764	Q8WXE0	CSKI2_HUMAN	C	764;682	ENSP00000325355:S764C;ENSP00000406963:S682C	ENSP00000325355:S764C	S	-	2	0	CASKIN2	71010459	0.975000	0.34042	0.998000	0.56505	0.779000	0.44077	4.940000	0.63533	2.537000	0.85549	0.491000	0.48974	TCT		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753	
EVPL	2125	broad.mit.edu	37	17	74017966	74017966	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:74017966G>A	ENST00000301607.3	-	7	1042	c.789C>T	c.(787-789)ggC>ggT	p.G263G	EVPL_ENST00000586740.1_Silent_p.G263G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	263	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGCCGCACGCCCGCAGGGT	0.756																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(787-789)ggC>ggT		Homo sapiens envoplakin (EVPL), mRNA.							4.0	6.0	5.0					17																	74017966		1943	3931	5874	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017966G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.789C>T	17.37:g.74017966G>A						EVPL_uc002jqi.2_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	p.G263G	NM_001988	NP_001979	Q92817	EVPL_HUMAN			6	1017	-			263			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.789C>T	CCDS11737.1																																																																																				0.756	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
SLC25A10	1468	broad.mit.edu	37	17	79682531	79682531	+	Silent	SNP	C	C	T	rs146181618	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:79682531C>T	ENST00000350690.5	+	3	323	c.237C>T	c.(235-237)ttC>ttT	p.F79F	SLC25A10_ENST00000331531.5_Silent_p.F79F|SLC25A10_ENST00000541223.1_Silent_p.F234F|SLC25A10_ENST00000571730.1_Silent_p.F234F|SLC25A10_ENST00000545862.1_Silent_p.F36F	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	79					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGACTCGGTTCGCCATCTACG	0.687													C|||	15	0.00299521	0.0113	0.0	5008	,	,		14913	0.0		0.0	False		,,,				2504	0.0					uc010wut.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(700-702)ttC>ttT		Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)	C		43,4363	46.0+/-80.4	0,43,2160	136.0	142.0	140.0		237	-5.1	0.7	17	dbSNP_134	140	0,8598		0,0,4299	no	coding-synonymous	SLC25A10	NM_012140.3		0,43,6459	TT,TC,CC		0.0,0.9759,0.3307		79/288	79682531	43,12961	2203	4299	6502	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682531C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.237C>T	17.37:g.79682531C>T						SLC25A10_uc002kbi.3_Silent_p.F79F|SLC25A10_uc010dif.3_Silent_p.F79F|SLC25A10_uc010wuu.2_Silent_p.F33F	p.F234F	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	834	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		79					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.702C>T	CCDS11786.1																																																																																				0.687	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1		
ADNP2	22850	broad.mit.edu	37	18	77896288	77896288	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr18:77896288C>A	ENST00000262198.4	+	4	3447	c.2992C>A	c.(2992-2994)Ccc>Acc	p.P998T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	998					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGCAGCCTCCCATCCTAAA	0.517																																						uc002lnw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(2992-2994)Ccc>Acc		Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.							51.0	57.0	55.0					18																	77896288		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896288C>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2992C>A	18.37:g.77896288C>A	ENSP00000262198:p.Pro998Thr						p.P998T	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	3	3447	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	998					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.2992C>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.366453	0.01235	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.03	-1.47	0.08772	.	0.727500	0.12774	N	0.440276	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.28681	-1.0036	8	.	.	.	-0.039	7.5036	0.27532	0.1196:0.3489:0.4647:0.0668	.	998	Q6IQ32	ADNP2_HUMAN	T	998	.	.	P	+	1	0	ADNP2	75997279	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.266000	0.18534	-0.523000	0.06409	-0.181000	0.13052	CCC		0.517	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
ZNF358	140467	broad.mit.edu	37	19	7585663	7585663	+	Missense_Mutation	SNP	T	T	C	rs558919190|rs28655671	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:7585663T>C	ENST00000597229.1	+	2	1705	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.L512P|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	512					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCAGACCTTGATCCTGTG	0.647													T|||	1	0.000199681	0.0	0.0	5008	,	,		13759	0.001		0.0	False		,,,				2504	0.0					uc002mgn.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1534-1536)cTt>cCt		Homo sapiens zinc finger protein 358 (ZNF358), mRNA.							99.0	78.0	85.0					19																	7585663		2203	4300	6503	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585663T>C	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1535T>C	19.37:g.7585663T>C	ENSP00000472305:p.Leu512Pro					ZNF358_uc021unu.1_Missense_Mutation_p.L512P|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	p.L512P	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			1	1705	+			512					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1535T>C	CCDS32890.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	1.092	-0.663780	0.03428	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.18810	2.19	2.63	-0.768	0.11013	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.23156	N	0.998205	B	0.09022	0.002	B	0.01281	0.0	T	0.30650	-0.9971	9	0.62326	D	0.03	.	1.2101	0.01903	0.319:0.3758:0.1212:0.184	rs28655671	512	Q9NW07	ZN358_HUMAN	P	512	ENSP00000377873:L512P	ENSP00000354703:L512P	L	+	2	0	ZNF358	7491663	0.000000	0.05858	0.022000	0.16811	0.002000	0.02628	-1.113000	0.03296	-0.256000	0.09473	-1.819000	0.00600	CTT		0.647	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1		
CYP2B7P	1556	broad.mit.edu	37	19	41430242	41430242	+	RNA	SNP	G	G	A	rs532819778		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:41430242G>A	ENST00000599198.1	+	0	119					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTGGTTCAGCGTCACCCTAAC	0.602																																						uc010ehg.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						c.(64-66)cGt>cAt		Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.																																						1556							g.chr19:41430242G>A																													19.37:g.41430242G>A						CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.R22H|CYP2B7P1_uc002opq.3_Non-coding_Transcript	p.R22H							0	73	+									Missense_Mutation	SNP	ENST00000599198.1	37	c.65G>A		.	.	.	.	.	.	.	.	.	.	G	12.09	1.832166	0.32421	.	.	ENSG00000256612	ENST00000541697	.	.	.	4.68	1.24	0.21308	.	2.600600	0.01523	N	0.018440	T	0.23249	0.0562	.	.	.	.	.	.	B;P	0.42973	0.006;0.796	B;B	0.35971	0.001;0.215	T	0.21008	-1.0258	7	0.72032	D	0.01	.	4.9941	0.14230	0.1971:0.1726:0.6303:0.0	.	22;22	B6A7R5;Q14097	.;.	H	22	.	ENSP00000441190:R22H	R	+	2	0	AC008537.4	46122082	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.497000	0.35649	0.061000	0.16311	-0.480000	0.04831	CGT		0.602	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1		
MEGF8	1954	broad.mit.edu	37	19	42855690	42855690	+	Missense_Mutation	SNP	G	G	A	rs539307956		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:42855690G>A	ENST00000251268.6	+	17	2965	c.2965G>A	c.(2965-2967)Ggc>Agc	p.G989S	MEGF8_ENST00000334370.4_Missense_Mutation_p.G922S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	989					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCACACGGGGGCTGTCGAGG	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.0					uc002otl.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2764-2766)Ggc>Agc		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							42.0	33.0	36.0					19																	42855690		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42855690G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2965G>A	19.37:g.42855690G>A	ENSP00000251268:p.Gly989Ser					MEGF8_uc002otm.4_Missense_Mutation_p.G530S	p.G922S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			15	3399	+		Prostate(69;0.00682)	989			PSI 3.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2764G>A		.	.	.	.	.	.	.	.	.	.	G	13.14	2.147892	0.37923	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19669	2.13;2.13	5.26	5.26	0.73747	.	0.072631	0.56097	D	0.000026	T	0.15869	0.0382	L	0.29908	0.895	0.80722	D	1	B;P	0.37500	0.085;0.597	B;B	0.37047	0.015;0.24	T	0.03662	-1.1015	10	0.08381	T	0.77	-24.0416	16.3849	0.83501	0.0:0.0:1.0:0.0	.	989;922	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	922;989	ENSP00000334219:G922S;ENSP00000251268:G989S	ENSP00000251268:G989S	G	+	1	0	MEGF8	47547530	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	5.497000	0.66924	2.465000	0.83290	0.655000	0.94253	GGC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
ZNF513	130557	broad.mit.edu	37	2	27600813	27600813	+	Missense_Mutation	SNP	C	C	T	rs371898387		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:27600813C>T	ENST00000323703.6	-	4	1423	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	ZNF513_ENST00000407879.1_Missense_Mutation_p.V347I|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	409					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGGACGCGCTGGTGC	0.587																																						uc002rkk.3																			0		p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1225-1227)Gtc>Atc		Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	130.0	128.0		1039,1225	4.3	0.9	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF513	NM_001201459.1,NM_144631.5	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	347/480,409/542	27600813	1,13005	2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600813C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1225G>A	2.37:g.27600813C>T	ENSP00000318373:p.Val409Ile					ZNF513_uc002rkj.3_Missense_Mutation_p.V347I	p.V409I	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN			3	1443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		409					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1225G>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	8.873	0.949807	0.18431	0.0	1.16E-4	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.08634	3.07;3.07	5.19	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000401	T	0.05914	0.0154	N	0.00801	-1.175	0.31686	N	0.642507	D	0.71674	0.998	D	0.74348	0.983	T	0.21042	-1.0257	10	0.02654	T	1	-11.2677	12.5498	0.56220	0.0:0.9194:0.0:0.0806	.	409	Q8N8E2	ZN513_HUMAN	I	409;347	ENSP00000318373:V409I;ENSP00000384874:V347I	ENSP00000318373:V409I	V	-	1	0	ZNF513	27454317	1.000000	0.71417	0.877000	0.34402	0.388000	0.30384	4.811000	0.62606	1.431000	0.47355	-0.136000	0.14681	GTC		0.587	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631	
IL1R1	3554	broad.mit.edu	37	2	102791960	102791960	+	Silent	SNP	C	C	T	rs113665542	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:102791960C>T	ENST00000410023.1	+	11	1476	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	IL1R1_ENST00000424272.1_Silent_p.D386D|IL1R1_ENST00000409288.1_Silent_p.D386D|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.D386D|IL1R1_ENST00000233946.3_Silent_p.D386D|IL1R1_ENST00000409929.1_Intron|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	386	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGACCTATGACGCATATATAC	0.363													c|||	12	0.00239617	0.0083	0.0	5008	,	,		19186	0.0		0.001	False		,,,				2504	0.0					uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1156-1158)gaC>gaT		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)			40,4366	43.8+/-77.6	0,40,2163	267.0	249.0	255.0		1158	1.4	1.0	2	dbSNP_132	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	IL1R1	NM_000877.2		0,46,6457	TT,TC,CC		0.0698,0.9079,0.3537		386/570	102791960	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102791960C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1158C>T	2.37:g.102791960C>T						IL1R1_uc010fix.3_Intron|IL1R1_uc002tbr.3_Silent_p.D386D	p.D386D	NM_000877	NP_000868	P14778	IL1R1_HUMAN			10	1476	+			386			TIR.		Q587I7	Silent	SNP	ENST00000410023.1	37	c.1158C>T	CCDS2055.1																																																																																				0.363	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
ANKAR	150709	broad.mit.edu	37	2	190603404	190603404	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:190603404G>A	ENST00000520309.1	+	19	3784	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.L1232L|ANKAR_ENST00000431575.2_Silent_p.L1161L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1232						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATTGTCTTGACAGGTAAGA	0.294																																						uc002uqw.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3694-3696)ttG>ttA		Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.							109.0	105.0	106.0					2																	190603404		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603404G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3696G>A	2.37:g.190603404G>A						ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.L328L	p.L1232L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		18	3784	+			1232					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3696G>A	CCDS33351.2																																																																																				0.294	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
DYNLRB1	83658	broad.mit.edu	37	20	33114101	33114101	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr20:33114101T>C	ENST00000357156.2	+	2	82	c.32T>C	c.(31-33)cTg>cCg	p.L11P	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.L63P|DYNLRB1_ENST00000480759.1_3'UTR|Y_RNA_ENST00000383855.1_RNA|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.L11P|DYNLRB1_ENST00000300469.9_Missense_Mutation_p.L11P	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	11					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CTGAAGCGACTGCAGAGCCAG	0.587																																						uc002xal.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(31-33)cTg>cCg		Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.							91.0	81.0	84.0					20																	33114101		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33114101T>C	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.32T>C	20.37:g.33114101T>C	ENSP00000349679:p.Leu11Pro					DYNLRB1_uc010zuk.2_Missense_Mutation_p.L11P|DYNLRB1_uc002xao.3_Non-coding_Transcript	p.L11P	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN			1	92	+			11					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.32T>C	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867013	0.91511	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000300469;ENST00000374846	T;T;T;T	0.32272	1.46;1.46;1.64;1.46	5.02	5.02	0.67125	.	0.052071	0.85682	D	0.000000	T	0.56702	0.2003	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.907	D;D	0.75484	0.986;0.925	T	0.62469	-0.6848	9	0.87932	D	0	-10.3373	14.8675	0.70427	0.0:0.0:0.0:1.0	.	11;11	B4DFR2;Q9NP97	.;DLRB1_HUMAN	P	11;11;11;63	ENSP00000349679:L11P;ENSP00000409090:L11P;ENSP00000300469:L11P;ENSP00000363979:L63P	ENSP00000300469:L11P	L	+	2	0	DYNLRB1	32577762	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.229000	0.72834	0.533000	0.62120	CTG		0.587	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183	
AIRE	326	broad.mit.edu	37	21	45706905	45706905	+	Missense_Mutation	SNP	G	G	A	rs370599883		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr21:45706905G>A	ENST00000291582.5	+	3	479	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	118					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCCCCGGCCGTCCCCAAGGC	0.672									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(352-354)Gtc>Atc		Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.		G	ILE/VAL	1,4373		0,1,2186	24.0	31.0	29.0		352	-2.7	0.0	21		29	0,8550		0,0,4275	no	missense	AIRE	NM_000383.2	29	0,1,6461	AA,AG,GG		0.0,0.0229,0.0077	benign	118/546	45706905	1,12923	2187	4275	6462	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45706905G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.352G>A	21.37:g.45706905G>A	ENSP00000291582:p.Val118Ile						p.V118I	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	2	479	+			118					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.352G>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697661	0.03279	2.29E-4	0.0	ENSG00000160224	ENST00000291582	D	0.94576	-3.46	4.13	-2.67	0.06059	.	1.410260	0.04721	N	0.419434	T	0.81475	0.4830	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.73225	-0.4050	10	0.21540	T	0.41	-7.5019	7.4999	0.27511	0.5079:0.0:0.4921:0.0	.	118	O43918	AIRE_HUMAN	I	118	ENSP00000291582:V118I	ENSP00000291582:V118I	V	+	1	0	AIRE	44531333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.294000	0.08309	-0.096000	0.12329	-0.382000	0.06688	GTC		0.672	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		
CYP2D7	1564	broad.mit.edu	37	22	42538618	42538618	+	RNA	SNP	A	A	G	rs2267448	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr22:42538618A>G	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							TGTCCAAGAGACCGTTGGGGC	0.667													N|||	2010	0.401358	0.3079	0.5216	5008	,	,		15068	0.3026		0.4632	False		,,,				2504	0.4806					uc003bci.3																			0				endometrium(1)	1						c.(256-258)ggT>ggC		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.																																						1564							g.chr22:42538618A>G																													22.37:g.42538618A>G						CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_5'UTR|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Silent_p.G86G	p.G86G							3	639	-									Silent	SNP	ENST00000428786.1	37	c.258T>C		817|817	0.3740842490842491|0.3740842490842491	146|146	0.2967479674796748|0.2967479674796748	180|180	0.4972375690607735|0.4972375690607735	165|165	0.28846153846153844|0.28846153846153844	326|326	0.43007915567282323|0.43007915567282323	G|G	10.57|10.57	1.386771|1.386771	0.25031|0.25031	.|.	.|.	ENSG00000205702|ENSG00000205702	ENST00000535769|ENST00000381321	.|.	.|.	.|.	3.26|3.26	-6.53|-6.53	0.01866|0.01866	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.58432|0.58432	P|P	9.99999999995449E-6|9.99999999995449E-6	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37384|0.37384	-0.9708|-0.9708	4|4	0.87932|0.72032	D|D	0|0.01	.|.	3.9589|3.9589	0.09403|0.09403	0.1795:0.4982:0.1961:0.1262|0.1795:0.4982:0.1961:0.1262	rs3021080;rs57365807|rs3021080;rs57365807	.|.	.|.	.|.	P|A	67|124	.|.	ENSP00000445124:S177P|ENSP00000446103:V124A	S|V	-|-	1|2	0|0	CYP2D7P1|CYP2D7P1	40868562|40868562	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.610000|-1.610000	0.02064|0.02064	-1.561000|-1.561000	0.01684|0.01684	-2.500000|-2.500000	0.00191|0.00191	TCT|GTC		0.667	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1		
ITPR1	3708	broad.mit.edu	37	3	4669476	4669476	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:4669476C>T	ENST00000443694.2	+	3	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ITPR1_ENST00000302640.8_Missense_Mutation_p.R65C|ITPR1_ENST00000544951.1_Missense_Mutation_p.R65C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R65C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R65C|ITPR1_ENST00000456211.2_Missense_Mutation_p.R65C|ITPR1_ENST00000354582.6_Missense_Mutation_p.R65C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	65					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCCCATGAACCGCTACTCTGC	0.468																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(193-195)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							148.0	143.0	145.0					3																	4669476		1985	4201	6186	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4669476C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.193C>T	3.37:g.4669476C>T	ENSP00000401671:p.Arg65Cys					ITPR1_uc010hbz.3_Missense_Mutation_p.R65C|ITPR1_uc021wsi.1_Missense_Mutation_p.R65C|ITPR1_uc021wsj.1_Missense_Mutation_p.R65C|ITPR1_uc011asu.2_Missense_Mutation_p.R65C	p.R65C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	4	543	+			65					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.193C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009816	0.75046	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.66	5.66	0.87406	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.92604	3.325	0.51482	D	0.999927	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.996;1.0;0.996;0.99	D	0.98974	1.0802	10	0.87932	D	0	.	14.2147	0.65786	0.1494:0.8506:0.0:0.0	.	65;65;65;65;65	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	C	65	ENSP00000306253:R65C;ENSP00000346595:R65C;ENSP00000405934:R65C;ENSP00000349597:R65C;ENSP00000397885:R65C;ENSP00000440564:R65C;ENSP00000401671:R65C	ENSP00000306253:R65C	R	+	1	0	ITPR1	4644476	0.986000	0.35501	0.995000	0.50966	0.999000	0.98932	2.271000	0.43364	2.669000	0.90835	0.655000	0.94253	CGC		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
CHST2	9435	broad.mit.edu	37	3	142840212	142840212	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:142840212A>G	ENST00000309575.3	+	2	1938	c.554A>G	c.(553-555)aAc>aGc	p.N185S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	185					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGCTATTCAACCAGAATCCC	0.622																																						uc003evm.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(553-555)aAc>aGc		Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.							47.0	58.0	54.0					3																	142840212		2202	4300	6502	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840212A>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.554A>G	3.37:g.142840212A>G	ENSP00000307911:p.Asn185Ser					CHST2_uc021xex.1_Missense_Mutation_p.N185S	p.N185S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			1	1493	+			185					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.554A>G	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628754	0.67015	.	.	ENSG00000175040	ENST00000309575	D	0.81499	-1.5	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.85678	0.5752	L	0.51914	1.62	0.58432	D	0.999997	D	0.69078	0.997	D	0.80764	0.994	D	0.84880	0.0830	10	0.37606	T	0.19	-10.0972	13.8553	0.63522	1.0:0.0:0.0:0.0	.	185	Q9Y4C5	CHST2_HUMAN	S	185	ENSP00000307911:N185S	ENSP00000307911:N185S	N	+	2	0	CHST2	144322902	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.230000	0.65321	1.859000	0.53934	0.334000	0.21626	AAC		0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267	
SH3RF1	57630	broad.mit.edu	37	4	170190261	170190261	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr4:170190261G>C	ENST00000284637.9	-	2	444	c.103C>G	c.(103-105)Cga>Gga	p.R35G	SH3RF1_ENST00000508685.1_5'Flank	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	35					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGCAAACATCGCTTGCAAAAC	0.517																																						uc003isa.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(103-105)Cga>Gga		Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.							67.0	63.0	65.0					4																	170190261		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170190261G>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.103C>G	4.37:g.170190261G>C	ENSP00000284637:p.Arg35Gly						p.R35G	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	1	438	-		Prostate(90;0.00267)|Renal(120;0.0183)	35					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.103C>G	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459012	0.43634	.	.	ENSG00000154447	ENST00000284637;ENST00000502315;ENST00000510806	D;D;D	0.86030	-2.06;-2.06;-2.06	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	N	0.25380	0.74	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.88398	0.3013	10	0.66056	D	0.02	-12.7594	15.0211	0.71632	0.0:0.0:0.8572:0.1428	.	35	Q7Z6J0	SH3R1_HUMAN	G	35	ENSP00000284637:R35G;ENSP00000427585:R35G;ENSP00000421714:R35G	ENSP00000284637:R35G	R	-	1	2	SH3RF1	170426836	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	5.528000	0.67129	2.576000	0.86940	0.655000	0.94253	CGA		0.517	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
PCDHA3	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140181796C>T	ENST00000522353.2	+	1	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1012-1014)ctC>ctT		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							172.0	171.0	172.0					5																	140181796		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181796C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1014C>T	5.37:g.140181796C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1014	+			353			Cadherin 3.		O75286	Silent	SNP	ENST00000522353.2	37	c.1014C>T	CCDS54915.1																																																																																				0.398	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHGB2	56103	broad.mit.edu	37	5	140741377	140741377	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140741377G>A	ENST00000522605.1	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGACAATGCGCCACGGGT	0.692																																						uc003ljs.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1675-1677)Gcg>Acg		Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.							32.0	39.0	37.0					5																	140741377		2093	4230	6323	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741377G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1675G>A	5.37:g.140741377G>A	ENSP00000429018:p.Ala559Thr					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A559T|PCDHGC5_uc011das.2_5'Flank	p.A559T	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1675	+			561			Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1675G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251326	0.22880	.	.	ENSG00000253910	ENST00000522605	T	0.02682	4.2	5.11	3.3	0.37823	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	L	0.55743	1.74	0.22185	N	0.999303	P;P	0.52316	0.794;0.952	B;P	0.52598	0.444;0.703	T	0.30031	-0.9992	9	0.41790	T	0.15	.	7.8512	0.29455	0.0754:0.0:0.6389:0.2857	.	559;559	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	559	ENSP00000429018:A559T	ENSP00000429018:A559T	A	+	1	0	PCDHGB2	140721561	0.002000	0.14202	0.850000	0.33497	0.013000	0.08279	0.372000	0.20467	0.633000	0.30452	0.460000	0.39030	GCG		0.692	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
EIF4E1B	253314	broad.mit.edu	37	5	176070180	176070180	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:176070180C>G	ENST00000318682.6	+	4	697	c.113C>G	c.(112-114)tCt>tGt	p.S38C	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.S38C	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	38					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAACTCTCCCAGGACT	0.612																																						uc010jkf.1																			0				breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(112-114)tCt>tGt		Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.							47.0	58.0	54.0					5																	176070180		1936	4140	6076	SO:0001583	missense	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176070180C>G		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.113C>G	5.37:g.176070180C>G	ENSP00000323714:p.Ser38Cys						p.S38C	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	697	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	38						Missense_Mutation	SNP	ENST00000318682.6	37	c.113C>G	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520152	0.27211	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.47869	0.83;0.83	4.11	-0.149	0.13420	Translation Initiation factor eIF- 4e-like  domain (1);	.	.	.	.	T	0.23846	0.0577	N	0.14661	0.345	0.09310	N	1	D	0.54047	0.964	B	0.40602	0.334	T	0.15780	-1.0425	9	0.62326	D	0.03	.	1.7229	0.02915	0.3847:0.3286:0.1747:0.112	.	38	A6NMX2	I4E1B_HUMAN	C	38	ENSP00000323714:S38C;ENSP00000427633:S38C	ENSP00000323714:S38C	S	+	2	0	EIF4E1B	176002786	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.115000	0.10741	0.062000	0.16340	0.561000	0.74099	TCT		0.612	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408	
SLC17A2	10246	broad.mit.edu	37	6	25917030	25917030	+	Silent	SNP	T	T	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:25917030T>A	ENST00000265425.3	-	7	833	c.813A>T	c.(811-813)acA>acT	p.T271T	SLC17A2_ENST00000377850.3_Silent_p.T271T|SLC17A2_ENST00000360488.3_Silent_p.T271T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	271					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTAGGCATGTGACCATCG	0.478																																						uc011dkb.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(811-813)acA>acT		Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.							112.0	101.0	104.0					6																	25917030		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25917030T>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.813A>T	6.37:g.25917030T>A						SLC17A2_uc011dkc.2_Silent_p.T271T|SLC17A2_uc003nfl.3_Silent_p.T271T	p.T271T			O00624	NPT3_HUMAN			6	896	-			271					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.813A>T																																																																																					0.478	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
DNAH8	1769	broad.mit.edu	37	6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	rs139579198		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:38834386G>A	ENST00000359357.3	+	44	6121	c.5867G>A	c.(5866-5868)cGc>cAc	p.R1956H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2173H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1956H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1956	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1956H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGCTGGGCGCCAGGAACTA	0.323																																						uc021yzh.1																			2	Substitution - Missense(2)	p.R1956H(2)	prostate(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6517-6519)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							64.0	65.0	65.0					6																	38834386		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38834386G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5867G>A	6.37:g.38834386G>A	ENSP00000352312:p.Arg1956His					DNAH8_uc003ooe.2_Missense_Mutation_p.R1956H	p.R2173H	NM_001206927	NP_001193856					45	6627	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6518G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.374909|5.374909	0.95923|0.95923	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T	.|0.15017	.|2.46;2.46;2.46	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54303|0.54303	0.1850|0.1850	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.67998|0.67998	-0.5525|-0.5525	5|10	.|0.87932	.|D	.|0	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1956	.|Q96JB1	.|DYH8_HUMAN	T|H	38|2161;2161;1956;1956	.|ENSP00000333363:R2161H;ENSP00000352312:R1956H;ENSP00000402294:R1956H	.|ENSP00000333363:R2161H	A|R	+|+	1|2	0|0	DNAH8|DNAH8	38942364|38942364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.803000|9.803000	0.99136|0.99136	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
SDK1	221935	broad.mit.edu	37	7	4116751	4116751	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:4116751C>T	ENST00000404826.2	+	21	3271	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	SDK1_ENST00000389531.3_Silent_p.D1044D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1044	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCATCGACGTGGCCGCTG	0.587																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3130-3132)gaC>gaT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							136.0	106.0	116.0					7																	4116751		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4116751C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3132C>T	7.37:g.4116751C>T						SDK1_uc010kso.3_Silent_p.D320D	p.D1044D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	20	3271	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1044			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3132C>T	CCDS34590.1																																																																																				0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
RHBDD2	57414	broad.mit.edu	37	7	75517607	75517607	+	Silent	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:75517607G>T	ENST00000006777.6	+	4	1170	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	RHBDD2_ENST00000318622.4_Silent_p.G204G|RHBDD2_ENST00000428119.1_Silent_p.G204G|RHBDD2_ENST00000468304.1_3'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	345						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGTATTCTGGGGCCTTGGGCA	0.622																																						uc003udw.1																			0				kidney(1)|lung(4)|prostate(1)	6						c.(1033-1035)ggG>ggT		Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.							61.0	66.0	64.0					7																	75517607		1895	4109	6004	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517607G>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.1035G>T	7.37:g.75517607G>T						RHBDD2_uc003udv.1_Silent_p.G204G	p.G345G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN			3	1119	+			345					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.1035G>T	CCDS43602.1																																																																																				0.622	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	
KCNH2	3757	broad.mit.edu	37	7	150649546	150649546	+	Silent	SNP	G	G	A	rs555601424		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:150649546G>A	ENST00000262186.5	-	6	1925	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH2_ENST00000392968.2_Silent_p.F412F|KCNH2_ENST00000330883.4_Silent_p.F168F|KCNH2_ENST00000430723.3_Silent_p.F508F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	508			Missing (in LQT2).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGAGCAGGTCGAAGGGGATGG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19120	0.0		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1522-1524)ttC>ttT		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						87.0	74.0	78.0					7																	150649546		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649546G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1524C>T	7.37:g.150649546G>A						KCNH2_uc003wib.3_Silent_p.F168F|KCNH2_uc011kux.2_Silent_p.F412F|KCNH2_uc003wid.3_Silent_p.F168F|KCNH2_uc003wie.3_Silent_p.F508F	p.F508F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1925	-	all_neural(206;0.219)		508		Missing (in LQT2).			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.1524C>T	CCDS5910.1																																																																																				0.627	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
EPPK1	83481	broad.mit.edu	37	8	144941723	144941723	+	Missense_Mutation	SNP	G	G	A	rs200834681	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr8:144941723G>A	ENST00000525985.1	-	2	5770	c.5699C>T	c.(5698-5700)gCg>gTg	p.A1900V				P58107	EPIPL_HUMAN	epiplakin 1	1900						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGACCCCCGCAATGCAGCC	0.632													G|||	3	0.000599042	0.0015	0.0	5008	,	,		18952	0.0		0.001	False		,,,				2504	0.0					uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5698-5700)gCg>gTg		Homo sapiens epiplakin 1 (EPPK1), mRNA.		G	VAL/ALA	1,4191		0,1,2095	25.0	27.0	26.0		5699	5.1	0.6	8		26	5,8417		0,5,4206	yes	missense	EPPK1	NM_031308.1	64	0,6,6301	AA,AG,GG		0.0594,0.0239,0.0476	probably-damaging	1900/2420	144941723	6,12608	2096	4211	6307	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941723G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5699C>T	8.37:g.144941723G>A	ENSP00000436337:p.Ala1900Val						p.A1900V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	5712	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1900					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5699C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.197366	0.94960	2.39E-4	5.94E-4	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	5.1	5.1	0.69264	.	.	.	.	.	D	0.85388	0.5685	M	0.75884	2.315	0.46376	D	0.999015	D	0.89917	1.0	D	0.91635	0.999	D	0.85173	0.0999	9	0.45353	T	0.12	.	16.0335	0.80603	0.0:0.0:1.0:0.0	.	1900	E9PPU0	.	V	1900	ENSP00000436337:A1900V	ENSP00000436337:A1900V	A	-	2	0	EPPK1	145013711	1.000000	0.71417	0.570000	0.28473	0.023000	0.10783	6.422000	0.73357	2.648000	0.89879	0.585000	0.79938	GCG		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
PTPRD	5789	broad.mit.edu	37	9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T	rs544419494		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:8492897C>T	ENST00000381196.4	-	24	2975	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_ENST00000540109.1_Missense_Mutation_p.R811H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R811H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R798H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R789H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	811	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTTGCTGCGAGCACCATC	0.463										TSP Lung(15;0.13)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17761	0.0		0.0	False		,,,				2504	0.001					uc003zkk.3																			0		p.R811C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2431-2433)cGc>cAc		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							232.0	187.0	202.0					9																	8492897		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8492897C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2432G>A	9.37:g.8492897C>T	ENSP00000370593:p.Arg811His	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.R811H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	26	3175	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	811			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2432G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127187	0.77549	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.54279	0.58;0.58;0.58;2.28;0.58	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.977	P;D;P	0.87578	0.811;0.998;0.693	T	0.74172	-0.3751	9	.	.	.	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	798;811;811	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	811;811;798;789;811	ENSP00000370593:R811H;ENSP00000348812:R811H;ENSP00000353187:R798H;ENSP00000351293:R789H;ENSP00000438164:R811H	.	R	-	2	0	PTPRD	8482897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.454000	0.82982	0.484000	0.47621	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:37919970C>T	ENST00000377707.3	-	6	1943	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	460	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502																																						uc004aax.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(1378-1380)Gcc>Acc		Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.							124.0	127.0	126.0					9																	37919970		1957	4154	6111	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37919970C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1378G>A	9.37:g.37919970C>T	ENSP00000366936:p.Ala460Thr						p.A460T	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	5	1946	-		all_epithelial(88;0.122)	460			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1378G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478897	0.44044	.	.	ENSG00000107338	ENST00000377707	T	0.30182	1.54	5.51	3.44	0.39384	SH2 motif (4);	0.234704	0.29846	N	0.011042	T	0.12561	0.0305	N	0.10760	0.04	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09729	-1.0661	10	0.33141	T	0.24	-22.2003	2.9378	0.05820	0.2161:0.5358:0.0:0.2481	.	460	Q15464	SHB_HUMAN	T	460	ENSP00000366936:A460T	ENSP00000366936:A460T	A	-	1	0	SHB	37909970	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.440000	0.21592	1.323000	0.45263	0.655000	0.94253	GCC		0.502	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1		
KCNT1	57582	broad.mit.edu	37	9	138676650	138676650	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:138676650G>A	ENST00000263604.3	+	27	3014	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	KCNT1_ENST00000298480.5_Missense_Mutation_p.R1024H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R1024H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R1005H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R983H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R1003H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R991H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R979H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1005					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTACGGCCGCCTCTTCCAG	0.637																																						uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3070-3072)cGc>cAc		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							71.0	75.0	73.0					9																	138676650		2203	4299	6502	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138676650G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3014G>A	9.37:g.138676650G>A	ENSP00000263604:p.Arg1005His					KCNT1_uc011mdr.2_Missense_Mutation_p.R851H|KCNT1_uc010nbf.3_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	p.R1024H	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	26	3145	+		Myeloproliferative disorder(178;0.0821)	1024					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.3071G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996388	0.93167	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.85737	0.5766	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.63046	0.987;0.977;0.992;0.987	P;P;P;P	0.54815	0.581;0.481;0.761;0.581	D	0.88832	0.3306	10	0.66056	D	0.02	-20.974	16.5037	0.84263	0.0:0.0:1.0:0.0	.	991;1024;979;1005	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	979;1024;1024;983;991;1005;1003;1005	ENSP00000417851:R979H;ENSP00000298480:R1024H;ENSP00000360822:R1024H;ENSP00000263604:R1005H	ENSP00000263604:R1005H	R	+	2	0	KCNT1	137816471	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.161000	0.94739	1.871000	0.54225	0.462000	0.41574	CGC		0.637	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
ARSD	414	broad.mit.edu	37	X	2836003	2836003	+	Silent	SNP	G	G	A	rs113556864		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:2836003G>A	ENST00000381154.1	-	5	780	c.705C>T	c.(703-705)ggC>ggT	p.G235G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	235					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGCCCACGCCGGCCATGC	0.592																																						uc004cqy.3																			0				large_intestine(3)|lung(3)	6						c.(703-705)ggC>ggT		Homo sapiens arylsulfatase D (ARSD), mRNA.							24.0	27.0	26.0					X																	2836003		2202	4300	6502	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836003G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.705C>T	X.37:g.2836003G>A							p.G235G	NM_001669	NP_001660	P51689	ARSD_HUMAN			4	805	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	235					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.705C>T	CCDS35196.1																																																																																				0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
CXorf58	254158	broad.mit.edu	37	X	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:23953460C>T	ENST00000379211.3	+	7	1252	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378																																						uc004daz.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(703-705)Cga>Tga		Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.							86.0	77.0	80.0					X																	23953460		2203	4300	6503	SO:0001587	stop_gained	254158							g.chrX:23953460C>T	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.703C>T	X.37:g.23953460C>T	ENSP00000368511:p.Arg235*					CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	p.R235*	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			6	1047	+			235						Nonsense_Mutation	SNP	ENST00000379211.3	37	c.703C>T	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	39	7.584849	0.98374	.	.	ENSG00000165182	ENST00000379211	.	.	.	6.07	3.28	0.37604	.	0.977993	0.08374	N	0.955636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0082	7.8706	0.29563	0.5601:0.361:0.0:0.0789	.	.	.	.	X	235	.	ENSP00000368511:R235X	R	+	1	2	CXorf58	23863381	0.924000	0.31332	0.054000	0.19295	0.620000	0.37586	0.584000	0.23864	0.249000	0.21456	0.540000	0.68198	CGA		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
ZNF182	7569	broad.mit.edu	37	X	47842386	47842386	+	Silent	SNP	G	G	A	rs141215624	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:47842386G>A	ENST00000396965.1	-	6	602	c.252C>T	c.(250-252)tgC>tgT	p.C84C	ZNF182_ENST00000376943.3_Silent_p.C65C|ZNF182_ENST00000305127.6_Silent_p.C84C	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTTCTGCCGGGCATTCTTCTA	0.478																																						uc004dir.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(250-252)tgC>tgT		Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.							119.0	94.0	103.0					X																	47842386		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47842386G>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.252C>T	X.37:g.47842386G>A						ZNF182_uc004dis.3_Silent_p.C65C|ZNF182_uc004dit.3_Silent_p.C84C	p.C84C	NM_006962	NP_008893	P17025	ZN182_HUMAN			5	598	-			84			KRAB.		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.252C>T	CCDS35236.1																																																																																				0.478	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
