#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NMNAT1	64802	broad.mit.edu	37	1	10032159	10032159	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:10032159G>C	ENST00000377205.1	+	2	172	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	10					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GACTGAAGTGGTTCTCCTTGC	0.428																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(28-30)Gtt>Ctt		nicotinamide nucleotide adenylyltransferase 1							219.0	219.0	219.0					1																	10032159		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10032159G>C	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.28G>C	1.37:g.10032159G>C	ENSP00000366410:p.Val10Leu					NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L|NMNAT1_ENST00000492735.1_3'UTR	p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	2	172	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	10					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.28G>C	CCDS108.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.575854	0.65878	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97811	-4.55;-4.55	3.92	3.92	0.45320	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.65323	0.934	D	0.97764	1.0222	10	0.38643	T	0.18	-3.3777	16.5309	0.84359	0.0:0.0:1.0:0.0	.	10	Q9HAN9	NMNA1_HUMAN	L	10	ENSP00000385131:V10L;ENSP00000366410:V10L	ENSP00000366410:V10L	V	+	1	0	NMNAT1	9954746	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.297000	0.78799	2.181000	0.69327	0.454000	0.30748	GTT		0.428	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			79	140	79	140	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170965648	170965648	+	Splice_Site	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:170965648G>C	ENST00000367758.3	+	14	1437	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	MROH9_ENST00000367759.4_Splice_Site_p.L446F	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	446																	GGGGCTTTAGGTATGCCCAGG	0.423																																						ENST00000367759.4																			0											c.(1336-1338)ttG>ttC		maestro heat-like repeat family member 9							127.0	120.0	122.0					1																	170965648		1882	4109	5991	SO:0001630	splice_region_variant	80133							g.chr1:170965648G>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1338-1G>C	1.37:g.170965648G>C						MROH9_ENST00000367758.3_Splice_Site_p.L446F	p.L446F	NM_001163629.1	NP_001157101.1					14	1492	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	ENST00000367758.3	37	c.1338G>C	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.187|7.187	0.590664|0.590664	0.13812|0.13812	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.66815|.	-0.23;2.26|.	5.65|5.65	-1.12|-1.12	0.09808|0.09808	.|.	1.178000|.	0.06176|.	N|.	0.678518|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B|.	0.17667|.	0.012;0.023|.	B;B|.	0.16722|.	0.007;0.016|.	T|T	0.16571|0.16571	-1.0398|-1.0398	9|5	.|.	.|.	.|.	.|.	10.1778|10.1778	0.42948|0.42948	0.295:0.2299:0.4751:0.0|0.295:0.2299:0.4751:0.0	.|.	446;446|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	F|L	446|53	ENSP00000356733:L446F;ENSP00000356732:L446F|.	.|.	L|V	+|+	3|1	2|0	C1orf129|C1orf129	169232272|169232272	0.851000|0.851000	0.29673|0.29673	0.099000|0.099000	0.21106|0.21106	0.006000|0.006000	0.05464|0.05464	-0.415000|-0.415000	0.07106|0.07106	-0.575000|-0.575000	0.05982|0.05982	-1.708000|-1.708000	0.00717|0.00717	TTG|GTA		0.423	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Missense_Mutation	4	122	4	122	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43175082	43175082	+	Silent	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr5:43175082C>T	ENST00000399534.1	+	7	1763	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	ZNF131_ENST00000509634.1_Silent_p.N539N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	573					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAATCATGAACCAAGAGGAGA	0.488																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1615-1617)aaC>aaT		zinc finger protein 131							80.0	78.0	78.0					5																	43175082		1964	4159	6123	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43175082C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1719C>T	5.37:g.43175082C>T						ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron	p.N539N			P52739	ZN131_HUMAN			7	2073	+			573					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1617C>T																																																																																					0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		24	34	24	34	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:146755288C>T	ENST00000282753.1	+	8	3176	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R981C|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	981					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R981C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTGCACAGGCGCGTGCCAAG	0.652																																						ENST00000361719.2																			1	Substitution - Missense(1)	p.R981C(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2941-2943)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						73.0	78.0	76.0					6																	146755288		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755288C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2941C>T	6.37:g.146755288C>T	ENSP00000282753:p.Arg981Cys					GRM1_ENST00000282753.1_Missense_Mutation_p.R981C|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.R981C	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3411	+		Ovarian(120;0.0387)	981					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2941C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242326	0.79912	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89123	-2.47;-2.47	5.1	5.1	0.69264	.	0.180842	0.49916	D	0.000133	T	0.80341	0.4605	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	B	0.44315	0.446	D	0.83599	0.0127	10	0.52906	T	0.07	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	981	Q13255	GRM1_HUMAN	C	981	ENSP00000354896:R981C;ENSP00000282753:R981C	ENSP00000282753:R981C	R	+	1	0	GRM1	146796981	1.000000	0.71417	0.943000	0.38184	0.735000	0.41995	5.103000	0.64578	2.363000	0.80096	0.462000	0.41574	CGC		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		48	79	48	79	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027931	92027931	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:92027931A>G	ENST00000265742.3	+	20	3314	c.2938A>G	c.(2938-2940)Atg>Gtg	p.M980V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	980							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTCATGACATGAACCCTCA	0.483																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2938-2940)Atg>Gtg		ankyrin repeat and IBR domain containing 1							118.0	115.0	116.0					7																	92027931		2009	4182	6191	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027931A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2938A>G	7.37:g.92027931A>G	ENSP00000265742:p.Met980Val						p.M980V	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3314	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		980					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2938A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518654	0.44763	.	.	ENSG00000001629	ENST00000265742	T	0.10192	2.9	5.35	4.19	0.49359	.	0.076761	0.85682	N	0.000000	T	0.09335	0.0230	L	0.29908	0.895	0.47659	D	0.999489	B;B	0.22480	0.049;0.07	B;B	0.20184	0.028;0.014	T	0.09314	-1.0680	10	0.87932	D	0	.	11.3585	0.49630	0.9292:0.0:0.0708:0.0	.	332;980	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	V	980	ENSP00000265742:M980V	ENSP00000265742:M980V	M	+	1	0	ANKIB1	91865867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.749000	0.68704	1.151000	0.42436	0.533000	0.62120	ATG		0.483	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			31	47	31	47	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100190516	100190516	+	Silent	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:100190516T>C	ENST00000241071.6	+	5	991	c.669T>C	c.(667-669)tgT>tgC	p.C223C	FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.C211C|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000360609.2_Silent_p.C209C|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	223					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGTGACTGTGTTGAGGTCT	0.557																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(667-669)tgT>tgC		F-box protein 24							96.0	81.0	86.0					7																	100190516		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190516T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.669T>C	7.37:g.100190516T>C						FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|FBXO24_ENST00000427939.2_Silent_p.C261C	p.C223C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	991	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		223					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.669T>C	CCDS5698.1																																																																																				0.557	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			21	24	21	24	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142750093	142750093	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:142750093T>C	ENST00000418316.1	+	1	677	c.656T>C	c.(655-657)aTa>aCa	p.I219T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGGCTACATAGTGACCACT	0.547																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(655-657)aTa>aCa		olfactory receptor, family 6, subfamily V, member 1							145.0	150.0	148.0					7																	142750093		2043	4203	6246	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750093T>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.656T>C	7.37:g.142750093T>C	ENSP00000396085:p.Ile219Thr						p.I219T	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	677	+	Melanoma(164;0.059)		219					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.656T>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401264	0.42613	.	.	ENSG00000225781	ENST00000418316	T	0.00402	7.56	4.6	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01730	0.0055	H	0.95780	3.72	0.20489	N	0.999896	D	0.89917	1.0	D	0.97110	1.0	T	0.26224	-1.0109	9	0.87932	D	0	.	8.3305	0.32184	0.0:0.0958:0.0:0.9042	.	219	Q8N148	OR6V1_HUMAN	T	219	ENSP00000396085:I219T	ENSP00000396085:I219T	I	+	2	0	OR6V1	142460215	0.569000	0.26643	0.533000	0.28001	0.573000	0.36030	1.506000	0.35747	0.790000	0.33803	0.533000	0.62120	ATA		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	169	4	169	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68139818	68139818	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr8:68139818T>C	ENST00000262215.3	-	26	3996	c.3607A>G	c.(3607-3609)Aat>Gat	p.N1203D	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1203					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACATCTTCATTAGGATTACAC	0.343																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3607-3609)Aat>Gat		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							66.0	65.0	65.0					8																	68139818		2203	4298	6501	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139818T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3607A>G	8.37:g.68139818T>C	ENSP00000262215:p.Asn1203Asp					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	p.N1203D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		26	3996	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1203					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3607A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284675	0.59867	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.64260	2.61;-0.09;-0.06;1.59	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.33710	1.025	0.58432	D	0.999999	B;B;B	0.29886	0.26;0.008;0.035	B;B;B	0.35114	0.196;0.027;0.027	T	0.56074	-0.8039	10	0.44086	T	0.13	.	14.4259	0.67215	0.0:0.0:0.0:1.0	.	1203;681;657	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	657;1203;41;52	ENSP00000428429:N657D;ENSP00000262215:N1203D;ENSP00000430891:N41D;ENSP00000429138:N52D	ENSP00000262215:N1203D	N	-	1	0	ARFGEF1	68302372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.166000	0.64965	1.798000	0.52647	0.477000	0.44152	AAT		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		46	52	46	52	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130507029	130507029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:130507029C>T	ENST00000314830.8	-	7	1727	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	538					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.W538C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTCTTGCCCCAGTCCCCTT	0.602																																						ENST00000314830.8																			2	Substitution - Missense(2)	p.W538C(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1612-1614)tgG>tgA		SH2 domain containing 3C							135.0	139.0	138.0					9																	130507029		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507029C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1614G>A	9.37:g.130507029C>T	ENSP00000317817:p.Trp538*					SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*	p.W538*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1727	-			538					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1614G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411513	0.83340	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.63	4.74	0.60224	.	0.713732	0.14423	N	0.320533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-42.4967	10.0823	0.42397	0.0:0.8305:0.0:0.1695	.	.	.	.	X	381;380;470;378;184;538	.	ENSP00000317817:W538X	W	-	3	0	SH2D3C	129546850	0.992000	0.36948	1.000000	0.80357	0.209000	0.24338	1.261000	0.32980	1.381000	0.46364	-0.258000	0.10820	TGG		0.602	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		69	129	69	129	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139329254	139329254	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:139329254G>A	ENST00000371712.3	-	2	1276	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGAAGTAGCGGGCCAGCTCA	0.682																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(874-876)Cgc>Tgc		inositol polyphosphate-5-phosphatase, 72 kDa							27.0	25.0	26.0					9																	139329254		2195	4295	6490	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139329254G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.874C>T	9.37:g.139329254G>A	ENSP00000360777:p.Arg292Cys						p.R292C	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	2	1276	-		Myeloproliferative disorder(178;0.0511)	292					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.874C>T	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934263	0.73442	.	.	ENSG00000148384	ENST00000371712	D	0.98012	-4.66	4.53	3.53	0.40419	.	0.129405	0.51477	D	0.000094	D	0.97867	0.9299	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.723	D	0.97659	1.0159	10	0.87932	D	0	-19.2862	11.6879	0.51497	0.0:0.0:0.5763:0.4237	.	292;292	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	C	292	ENSP00000360777:R292C	ENSP00000360777:R292C	R	-	1	0	INPP5E	138449075	1.000000	0.71417	0.985000	0.45067	0.778000	0.44026	5.509000	0.67012	0.820000	0.34516	0.561000	0.74099	CGC		0.682	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		10	13	10	13	---	---	---	---
OR52A1	23538	broad.mit.edu	37	11	5173454	5173454	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5173454C>T	ENST00000380367.1	-	2	563	c.146G>A	c.(145-147)aGc>aAc	p.S49N	OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	49					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGATGATGCTCAGAAGCAA	0.463																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(145-147)aGc>aAc		olfactory receptor, family 52, subfamily A, member 1							80.0	74.0	76.0					11																	5173454		2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173454C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.146G>A	11.37:g.5173454C>T	ENSP00000369725:p.Ser49Asn					OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N	p.S49N			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	563	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	49					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.146G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	c	4.939	0.174413	0.09391	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03004	4.08;4.08	5.37	-0.306	0.12780	GPCR, rhodopsin-like superfamily (1);	1.335760	0.05045	N	0.477113	T	0.04815	0.0130	L	0.52573	1.65	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.45396	-0.9264	10	0.66056	D	0.02	.	3.5602	0.07880	0.5369:0.2681:0.083:0.112	.	49	Q9UKL2	O52A1_HUMAN	N	49	ENSP00000369725:S49N;ENSP00000333684:S49N	ENSP00000333684:S49N	S	-	2	0	OR52A1	5130030	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.242000	0.08928	-0.143000	0.11334	-1.021000	0.02439	AGC		0.463	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		26	40	26	40	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529067	5529067	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5529067A>C	ENST00000311659.4	-	2	1869	c.1722T>G	c.(1720-1722)aaT>aaG	p.N574K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	574										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAGGTGGATTTGGGAGAG	0.522																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1720-1722)aaT>aaG		ubiquilin 3							62.0	60.0	60.0					11																	5529067		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529067A>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1722T>G	11.37:g.5529067A>C	ENSP00000347997:p.Asn574Lys					HBG2_ENST00000380259.2_Intron	p.N574K	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1869	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	574					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1722T>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.855669	0.00558	.	.	ENSG00000175520	ENST00000311659	T	0.37752	1.18	4.82	-2.93	0.05598	.	1.992470	0.02484	N	0.088811	T	0.31827	0.0809	L	0.43152	1.355	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.28299	-1.0048	10	0.35671	T	0.21	3.1357	10.1045	0.42524	0.6232:0.0:0.3768:0.0	.	574	Q9H347	UBQL3_HUMAN	K	574	ENSP00000347997:N574K	ENSP00000347997:N574K	N	-	3	2	UBQLN3	5485643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.360000	0.02600	-0.703000	0.05049	-0.242000	0.12053	AAT		0.522	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		22	26	22	26	---	---	---	---
CLEC6A	93978	broad.mit.edu	37	12	8618186	8618186	+	Missense_Mutation	SNP	G	G	T	rs141203382	byFrequency	TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:8618186G>T	ENST00000382073.3	+	4	516	c.330G>T	c.(328-330)atG>atT	p.M110I		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTGTTGAGATGGGAGCACATT	0.383																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(328-330)atG>atT		C-type lectin domain family 6, member A							172.0	155.0	161.0					12																	8618186		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8618186G>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.330G>T	12.37:g.8618186G>T	ENSP00000371505:p.Met110Ile						p.M110I	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			4	516	+	Lung SC(5;0.184)		110			C-type lectin.		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.330G>T	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222048	0.39300	.	.	ENSG00000205846	ENST00000382073	T	0.17213	2.29	3.96	3.06	0.35304	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.165132	0.29106	N	0.013134	T	0.14614	0.0353	L	0.50993	1.605	0.19575	N	0.999962	B	0.34181	0.44	B	0.32090	0.14	T	0.16424	-1.0403	10	0.66056	D	0.02	.	7.423	0.27083	0.1178:0.0:0.8822:0.0	.	110	Q6EIG7	CLC6A_HUMAN	I	110	ENSP00000371505:M110I	ENSP00000371505:M110I	M	+	3	0	CLEC6A	8509453	1.000000	0.71417	0.268000	0.24571	0.682000	0.39822	1.885000	0.39678	1.234000	0.43709	0.557000	0.71058	ATG		0.383	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		8	69	8	69	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104048409	104048409	+	Missense_Mutation	SNP	A	A	G	rs527425197		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104048409A>G	ENST00000388887.2	+	13	1688	c.1484A>G	c.(1483-1485)aAt>aGt	p.N495S	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTTCCAATGGGCTTCTG	0.393																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1483-1485)aAt>aGt		stabilin 2							91.0	85.0	87.0					12																	104048409		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104048409A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1484A>G	12.37:g.104048409A>G	ENSP00000373539:p.Asn495Ser						p.N495S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			13	1688	+			495			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1484A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931995	0.73442	.	.	ENSG00000136011	ENST00000388887	D	0.92545	-3.06	5.8	5.8	0.92144	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.91090	3.175	0.45261	D	0.998262	D	0.89917	1.0	D	0.87578	0.998	D	0.97619	1.0134	10	0.72032	D	0.01	.	15.834	0.78782	1.0:0.0:0.0:0.0	.	495	Q8WWQ8	STAB2_HUMAN	S	495	ENSP00000373539:N495S	ENSP00000373539:N495S	N	+	2	0	STAB2	102572539	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	7.342000	0.79310	2.227000	0.72691	0.460000	0.39030	AAT		0.393	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			32	44	32	44	---	---	---	---
GLT8D2	83468	broad.mit.edu	37	12	104387275	104387275	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104387275G>T	ENST00000360814.4	-	10	1180	c.775C>A	c.(775-777)Ctc>Atc	p.L259I	GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	259						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCTATAGAGGTTTTCCCTA	0.438																																						ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(775-777)Ctc>Atc		glycosyltransferase 8 domain containing 2							36.0	38.0	37.0					12																	104387275		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104387275G>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.775C>A	12.37:g.104387275G>T	ENSP00000354053:p.Leu259Ile					GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			10	1180	-			259					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.775C>A	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871102	0.51695	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.22539	1.95;1.95;1.95	5.58	5.58	0.84498	.	0.055495	0.64402	D	0.000001	T	0.17450	0.0419	L	0.33485	1.01	0.80722	D	1	P	0.38129	0.619	B	0.33890	0.172	T	0.03202	-1.1061	10	0.25751	T	0.34	.	17.7571	0.88452	0.0:0.0:1.0:0.0	.	259	Q9H1C3	GL8D2_HUMAN	I	259	ENSP00000354053:L259I;ENSP00000449750:L259I;ENSP00000447450:L259I	ENSP00000354053:L259I	L	-	1	0	GLT8D2	102911405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.551000	0.60740	2.627000	0.88993	0.655000	0.94253	CTC		0.438	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		3	18	3	18	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25488801	25488801	+	RNA	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr15:25488801G>T	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAAGAGAGGTGATGACTTAAA	0.522																																						ENST00000453082.2																			0																				441.0	447.0	445.0					15																	25488801		876	1989	2865			104472715							g.chr15:25488801G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25488801G>T						SNORD115-40_ENST00000606510.1_RNA		NR_003343.1						0	2332	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.522	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	468	7	468	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47697603	47697603	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:47697603A>G	ENST00000323584.5	+	24	2318	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R	PHKB_ENST00000299167.8_Missense_Mutation_p.H765R|PHKB_ENST00000455779.1_Missense_Mutation_p.H758R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	765					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTTCTGATCACATTGAGAGA	0.328																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2272-2274)cAc>cGc		phosphorylase kinase, beta							209.0	189.0	196.0					16																	47697603		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47697603A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2294A>G	16.37:g.47697603A>G	ENSP00000313504:p.His765Arg					PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R	p.H758R			Q93100	KPBB_HUMAN			25	2458	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	765					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2273A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	9.351	1.065456	0.20067	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88277	-2.36;-2.36	5.73	4.64	0.57946	Glycoside hydrolase 15-related (1);	0.486738	0.24368	N	0.039139	T	0.75729	0.3889	N	0.11927	0.2	0.32291	N	0.566315	B;B	0.12630	0.0;0.006	B;B	0.09377	0.004;0.002	T	0.69355	-0.5167	10	0.20046	T	0.44	-13.5461	7.0361	0.24995	0.7992:0.0:0.0699:0.1308	.	765;758	Q93100;Q93100-4	KPBB_HUMAN;.	R	758;758;765	ENSP00000414345:H758R;ENSP00000313504:H765R	ENSP00000299167:H758R	H	+	2	0	PHKB	46255104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.959000	0.56744	0.984000	0.38629	0.533000	0.62120	CAC		0.328	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			36	49	36	49	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84124506	84124506	+	Silent	SNP	A	A	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:84124506A>T	ENST00000343411.3	-	8	1500	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	335	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATTGCCAATAGCAGAAACCA	0.373																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1003-1005)gcT>gcA		membrane-bound transcription factor peptidase, site 1							126.0	118.0	120.0					16																	84124506		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84124506A>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1005T>A	16.37:g.84124506A>T						MBTPS1_ENST00000569770.1_5'UTR	p.A335A	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			8	1500	-			335			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1005T>A	CCDS10941.1																																																																																				0.373	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		11	72	11	72	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13366064	13366064	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:13366064T>C	ENST00000360228.5	-	29	4599	c.4600A>G	c.(4600-4602)Att>Gtt	p.I1534V	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1535					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAATCAATGCAGGCCCTC	0.617																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4600-4602)Att>Gtt		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42.0	46.0	45.0					19																	13366064		2117	4215	6332	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13366064T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4600A>G	19.37:g.13366064T>C	ENSP00000353362:p.Ile1534Val					CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	p.I1534V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		29	4599	-			1535					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4600A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587828	0.28268	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96300	-3.97	4.99	4.99	0.66335	.	0.181808	0.43919	D	0.000501	D	0.96892	0.8985	L	0.52011	1.625	0.58432	D	0.999998	P;P;D;P	0.59357	0.735;0.674;0.985;0.545	B;B;D;B	0.67548	0.232;0.409;0.952;0.232	D	0.96809	0.9595	10	0.48119	T	0.1	.	13.7495	0.62899	0.0:0.0:0.0:1.0	.	1535;1538;1534;1535	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	V	1534;1538;1535;1535;151	ENSP00000353362:I1534V	ENSP00000317661:I1535V	I	-	1	0	CACNA1A	13227064	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.931000	0.87625	1.890000	0.54733	0.524000	0.50904	ATT		0.617	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	13	10	13	---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119005303	119005303	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(274-276)Gag>Aag		ring finger protein 113A							162.0	161.0	161.0					X																	119005303		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005303C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.274G>A	X.37:g.119005303C>T	ENSP00000360497:p.Glu92Lys						p.E92K	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	488	-			92			Poly-Glu.		B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.274G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914831	0.17907	.	.	ENSG00000125352	ENST00000371442	T	0.31510	1.49	5.49	4.63	0.57726	.	0.582240	0.18241	N	0.147224	T	0.19167	0.0460	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.26985	-1.0087	10	0.12430	T	0.62	-33.4748	7.7603	0.28948	0.0:0.808:0.0:0.192	.	92	O15541	R113A_HUMAN	K	92	ENSP00000360497:E92K	ENSP00000360497:E92K	E	-	1	0	RNF113A	118889331	0.001000	0.12720	0.002000	0.10522	0.308000	0.27856	0.639000	0.24690	1.108000	0.41662	0.600000	0.82982	GAG		0.547	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		116	26	116	26	---	---	---	---
