#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	31	0	0	0	1	0	3	31				
FAM71A	149647	broad.mit.edu	37	1	212798742	212798742	+	Missense_Mutation	SNP	C	C	T	rs528047581		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:212798742C>T	ENST00000294829.3	+	1	954	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTACCTCTTGCGGCCACCCAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		22325	0.0		0.0	False		,,,				2504	0.001					ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(523-525)Cgg>Tgg		family with sequence similarity 71, member A							108.0	113.0	112.0					1																	212798742		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798742C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.523C>T	1.37:g.212798742C>T	ENSP00000294829:p.Arg175Trp		Somatic				RP11-338C15.5_ENST00000427949.1_RNA	p.R175W	NM_153606.3	NP_705834.2	WXS	Illumina GAIIx	Phase_I	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	954	+			175					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.523C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540844	0.13250	.	.	ENSG00000162771	ENST00000294829	T	0.26660	1.72	4.54	2.6	0.31112	.	0.279284	0.23893	N	0.043524	T	0.46171	0.1379	M	0.84846	2.72	0.09310	N	1	D	0.61080	0.989	D	0.64237	0.923	T	0.31779	-0.9931	10	0.66056	D	0.02	-6.1149	5.4741	0.16686	0.2046:0.6922:0.0:0.1032	.	175	Q8IYT1	FA71A_HUMAN	W	175	ENSP00000294829:R175W	ENSP00000294829:R175W	R	+	1	2	FAM71A	210865365	0.084000	0.21492	0.004000	0.12327	0.174000	0.22865	0.277000	0.18734	0.607000	0.29982	0.563000	0.77884	CGG		0.517	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		61	83	0	0	0	1	0	61	83				
ANKRD19P	138649	broad.mit.edu	37	9	95599650	95599650	+	RNA	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr9:95599650G>C	ENST00000473204.1	+	0	1731							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											ACCTGCTGCAGCTCCTGTACC	0.662																																						ENST00000473204.1																			0																																																			0							g.chr9:95599650G>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599650G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1731	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.662	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		11	10	0	0	0	1	0	11	10				
IVL	3713	broad.mit.edu	37	1	152883896	152883896	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:152883896G>C	ENST00000368764.3	+	2	1687	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D	IVL_ENST00000392667.2_Missense_Mutation_p.E395D			P07476	INVO_HUMAN	involucrin	541	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagctggagcagcCTGTGT	0.587																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1621-1623)gaG>gaC		involucrin							53.0	53.0	53.0					1																	152883896		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883896G>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1623G>C	1.37:g.152883896G>C	ENSP00000357753:p.Glu541Asp		Somatic				IVL_ENST00000392667.2_Missense_Mutation_p.E395D	p.E541D			WXS	Illumina GAIIx	Phase_I	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1687	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		541			39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].		Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1623G>C	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367675	0.42003	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.18810	2.19;3.0	3.88	0.895	0.19247	.	.	.	.	.	T	0.16938	0.0407	L	0.61218	1.895	0.24190	N	0.995553	D	0.65815	0.995	D	0.69307	0.963	T	0.10847	-1.0612	9	0.15066	T	0.55	.	5.6123	0.17412	0.1569:0.0:0.679:0.1641	.	541	P07476	INVO_HUMAN	D	541;395	ENSP00000357753:E541D;ENSP00000376435:E395D	ENSP00000357753:E541D	E	+	3	2	IVL	151150520	0.004000	0.15560	0.004000	0.12327	0.068000	0.16541	0.077000	0.14738	0.207000	0.20607	0.563000	0.77884	GAG		0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		7	5	0	0	0	1	0	7	5				
OBSL1	23363	broad.mit.edu	37	2	220432798	220432798	+	Missense_Mutation	SNP	C	C	T	rs371966827		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:220432798C>T	ENST00000404537.1	-	2	1317	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	421	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGTTGGCCACGGTGCGCACC	0.622											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000404537.1																			0											c.(1261-1263)Gtg>Atg		obscurin-like 1							71.0	79.0	76.0					2																	220432798		2150	4244	6394	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432798C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1261G>A	2.37:g.220432798C>T	ENSP00000385636:p.Val421Met		Somatic	OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M	p.V421M	NM_015311.2	NP_056126.1	WXS	Illumina GAIIx	Phase_I	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	2	1317	-		Renal(207;0.0376)	421			Ig-like 4.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1261G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919854	0.73098	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.50548	3.53;3.53;3.53;3.53;0.74	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57577	0.2063	L	0.54323	1.7	0.37490	D	0.91636	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.945;0.984	T	0.59658	-0.7413	9	0.32370	T	0.25	.	6.1951	0.20546	0.0:0.7843:0.0:0.2157	.	421;8;421	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	M	421;421;421;421;8	ENSP00000265318:V421M;ENSP00000385636:V421M;ENSP00000362983:V421M;ENSP00000362980:V421M;ENSP00000289656:V8M	ENSP00000265318:V421M	V	-	1	0	OBSL1	220141042	0.922000	0.31269	0.962000	0.40283	0.969000	0.65631	3.139000	0.50577	2.694000	0.91930	0.650000	0.86243	GTG		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			30	49	0	0	0	1	0	30	49				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	13	0	0	0	1	0	4	13				
UBL3	5412	broad.mit.edu	37	13	30341440	30341440	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr13:30341440C>A	ENST00000380680.4	-	5	1451	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	102						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CACGATTCCTCTGACCTAGGG	0.418																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(304-306)caG>caT		ubiquitin-like 3							101.0	86.0	91.0					13																	30341440		2203	4300	6503	SO:0001583	missense	5412					intracellular|plasma membrane		g.chr13:30341440C>A	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.306G>T	13.37:g.30341440C>A	ENSP00000370055:p.Gln102His		Somatic					p.Q102H	NM_007106.3	NP_009037.1	WXS	Illumina GAIIx	Phase_I	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	5	1451	-		Lung SC(185;0.0281)	102					B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.306G>T	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803775	0.70682	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.84	2.14	0.27477	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.65975	2.015	0.58432	D	0.999996	P	0.46952	0.887	P	0.47118	0.538	T	0.40365	-0.9567	9	0.36615	T	0.2	-14.1466	5.9535	0.19261	0.0:0.5674:0.1296:0.303	.	102	O95164	UBL3_HUMAN	H	102	.	ENSP00000370055:Q102H	Q	-	3	2	UBL3	29239440	0.997000	0.39634	0.998000	0.56505	0.941000	0.58515	0.539000	0.23175	0.088000	0.17205	0.557000	0.71058	CAG		0.418	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		3	38	1	0	0.004672	1	0.004672	3	38				
TLDC1	57707	broad.mit.edu	37	16	84520354	84520354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:84520354G>A	ENST00000343629.6	-	5	1023	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	TLDC1_ENST00000535580.1_Nonsense_Mutation_p.Q254*|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	281	TLD.					lysosomal membrane (GO:0005765)											CCACAGAGCTGGGAGAAGCTG	0.597																																						ENST00000343629.6																			0											c.(841-843)Cag>Tag		TBC/LysM-associated domain containing 1							68.0	62.0	64.0					16																	84520354		2200	4300	6500	SO:0001587	stop_gained	57707							g.chr16:84520354G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.841C>T	16.37:g.84520354G>A	ENSP00000343635:p.Gln281*		Somatic				TLDC1_ENST00000535580.1_Nonsense_Mutation_p.Q254*	p.Q281*	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					5	1023	-								Q8IZ64|Q9HCG3|Q9NTE8	Nonsense_Mutation	SNP	ENST00000343629.6	37	c.841C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267690	0.97426	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	.	.	.	5.32	4.33	0.51752	.	0.054163	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-38.7056	14.4712	0.67517	0.0:0.0:0.8529:0.1471	.	.	.	.	X	281;254	.	ENSP00000343635:Q281X	Q	-	1	0	KIAA1609	83077855	1.000000	0.71417	0.983000	0.44433	0.773000	0.43773	4.555000	0.60767	2.476000	0.83614	0.655000	0.94253	CAG		0.597	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		14	27	0	0	0	1	0	14	27				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		27	48	0	0	0	1	0	27	48				
OR2L2	26246	broad.mit.edu	37	1	248201776	248201776	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:248201776C>G	ENST00000366479.2	+	1	303	c.207C>G	c.(205-207)gaC>gaG	p.D69E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCCTCATTGACCTAAATTACA	0.388																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(205-207)gaC>gaG		olfactory receptor, family 2, subfamily L, member 2							284.0	260.0	268.0					1																	248201776		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201776C>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.207C>G	1.37:g.248201776C>G	ENSP00000355435:p.Asp69Glu		Somatic				OR2L13_ENST00000366478.2_Intron	p.D69E	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	303	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		69					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.207C>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.250922	0.22880	.	.	ENSG00000203663	ENST00000366479	T	0.66460	-0.21	1.9	-0.286	0.12862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33572	U	0.004779	T	0.59155	0.2173	M	0.65677	2.01	0.09310	N	1	P	0.40553	0.721	B	0.40134	0.32	T	0.54977	-0.8212	10	0.62326	D	0.03	.	6.5569	0.22466	0.0:0.4672:0.0:0.5328	.	69	Q8NH16	OR2L2_HUMAN	E	69	ENSP00000355435:D69E	ENSP00000355435:D69E	D	+	3	2	OR2L2	246268399	0.000000	0.05858	0.007000	0.13788	0.159000	0.22180	-1.686000	0.01929	0.037000	0.15575	0.194000	0.17425	GAC		0.388	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		34	78	0	0	0	1	0	34	78				
CA7	766	broad.mit.edu	37	16	66887373	66887373	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:66887373G>C	ENST00000338437.2	+	7	876	c.767G>C	c.(766-768)cGc>cCc	p.R256P	CA7_ENST00000394069.3_Missense_Mutation_p.R200P|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	256					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CTGAAGGGCCGCGTGGTAAAG	0.592																																						ENST00000394069.3																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(598-600)cGc>cCc		carbonic anhydrase VII							42.0	40.0	41.0					16																	66887373		2200	4300	6500	SO:0001583	missense	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66887373G>C		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.767G>C	16.37:g.66887373G>C	ENSP00000345659:p.Arg256Pro		Somatic				CA7_ENST00000338437.2_Missense_Mutation_p.R256P	p.R200P	NM_001014435.1	NP_001014435.1	WXS	Illumina GAIIx	Phase_I	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	7	1030	+		Ovarian(137;0.0563)	256					Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.599G>C	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866597	0.72065	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.78707	-1.2;-1.2	5.18	4.22	0.49857	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.105223	0.64402	D	0.000008	D	0.92492	0.7616	H	0.98769	4.325	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94532	0.7737	10	0.87932	D	0	-8.7296	12.7996	0.57578	0.0805:0.0:0.9195:0.0	.	256	P43166	CAH7_HUMAN	P	256;200	ENSP00000345659:R256P;ENSP00000377632:R200P	ENSP00000345659:R256P	R	+	2	0	CA7	65444874	1.000000	0.71417	0.917000	0.36280	0.777000	0.43975	8.592000	0.90828	1.316000	0.45131	-0.258000	0.10820	CGC		0.592	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			3	37	0	0	0	1	0	3	37				
LRRC42	115353	broad.mit.edu	37	1	54426038	54426038	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:54426038G>A	ENST00000371370.3	+	5	1136	c.615G>A	c.(613-615)caG>caA	p.Q205Q	LRRC42_ENST00000319223.4_Silent_p.Q205Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	205										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTGTAACTCAGCTCCACCTGA	0.363																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(613-615)caG>caA		leucine rich repeat containing 42							124.0	123.0	123.0					1																	54426038		2203	4300	6503	SO:0001819	synonymous_variant	115353							g.chr1:54426038G>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.615G>A	1.37:g.54426038G>A			Somatic				LRRC42_ENST00000319223.4_Silent_p.Q205Q	p.Q205Q	NM_001256409.1	NP_001243338.1	WXS	Illumina GAIIx	Phase_I	Q9Y546	LRC42_HUMAN			5	1136	+			205					D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.615G>A	CCDS585.1																																																																																				0.363	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		30	36	0	0	0	1	0	30	36				
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1174-1176)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							145.0	139.0	141.0					2																	135107438		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107438C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val		Somatic				MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V	p.A392V			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	10	1427	+			392					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1175C>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	MGAT5	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		3	59	0	0	0	1	0	3	59				
RPH3A	22895	broad.mit.edu	37	12	113285537	113285537	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr12:113285537G>A	ENST00000389385.4	+	5	617	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000551052.1_Silent_p.Q36Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Silent_p.Q40Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	40					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGTGGTCAGCCTGACAGGC	0.532																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(118-120)caG>caA		rabphilin 3A homolog (mouse)							77.0	70.0	72.0					12																	113285537		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113285537G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.120G>A	12.37:g.113285537G>A			Somatic				RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000551052.1_Silent_p.Q36Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Silent_p.Q40Q	p.Q40Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	WXS	Illumina GAIIx	Phase_I	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	5	617	+			40					B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.120G>A	CCDS44979.1																																																																																				0.532	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		4	54	0	0	0	1	0	4	54				
CHRNE	1145	broad.mit.edu	37	17	4798399	4798399	+	IGR	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:4798399G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Missense_Mutation_p.D983N|MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000453408.3_Missense_Mutation_p.D963N	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CACTCGGCTCGACCAGCTGCA	0.602																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2947-2949)Gac>Aac		misshapen-like kinase 1							412.0	382.0	392.0					17																	4798399		2036	4176	6212	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798399G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798399G>A			Somatic				MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000453408.3_Missense_Mutation_p.D963N	p.D983N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	WXS	Illumina GAIIx	Phase_I	Q8N4C8	MINK1_HUMAN			25	3143	+			983			Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.2947G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737018	0.69304	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.74632	-0.84;-0.86;-0.84	5.11	5.11	0.69529	.	0.177372	0.48767	D	0.000161	T	0.63212	0.2492	L	0.34521	1.04	0.45690	D	0.998601	B;P;B;P	0.34546	0.272;0.456;0.327;0.456	B;B;B;B	0.24701	0.055;0.034;0.015;0.034	T	0.67684	-0.5607	10	0.62326	D	0.03	.	16.0869	0.81060	0.0:0.0:1.0:0.0	.	946;963;983;954	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	N	983;963;954	ENSP00000347427:D983N;ENSP00000406487:D963N;ENSP00000269296:D954N	ENSP00000269296:D954N	D	+	1	0	MINK1	4739175	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	5.526000	0.67116	2.655000	0.90218	0.655000	0.94253	GAC		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			47	70	0	0	0	1	0	47	70				
OR4E2	26686	broad.mit.edu	37	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	rs376029887		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(925-927)aCg>aTg		olfactory receptor, family 4, subfamily E, member 2							33.0	30.0	31.0					14																	22134222		1924	4142	6066	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134222C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met		Somatic					p.T309M	NM_001001912.1	NP_001001912.1	WXS	Illumina GAIIx	Phase_I	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	926	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.926C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	OR4E2	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG		0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			5	13	0	0	0	1	0	5	13				
MYO15A	51168	broad.mit.edu	37	17	18047195	18047195	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:18047195G>T	ENST00000205890.5	+	28	6396	c.6058G>T	c.(6058-6060)Gcc>Tcc	p.A2020S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2020	Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCGGGCTGGCCCAGGTGCC	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6058-6060)Gcc>Tcc		myosin XVA							21.0	25.0	23.0					17																	18047195		2062	4198	6260	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047195G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6058G>T	17.37:g.18047195G>T	ENSP00000205890:p.Ala2020Ser		Somatic					p.A2020S	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			28	6396	+	all_neural(463;0.228)		2020			Neck or regulatory domain.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6058G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001985	0.19121	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.98	-5.43	0.02632	.	.	.	.	.	T	0.71298	0.3323	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59663	-0.7412	9	0.08179	T	0.78	.	1.339	0.02150	0.1737:0.3149:0.2678:0.2436	.	2020	Q9UKN7	MYO15_HUMAN	S	2020	ENSP00000205890:A2020S	ENSP00000205890:A2020S	A	+	1	0	MYO15A	17987920	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.163000	0.09997	-1.249000	0.02500	-1.415000	0.01116	GCC		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	3	1	0	3.07112e-06	1	3.19908e-06	11	3				
CEP152	22995	broad.mit.edu	37	15	49064766	49064766	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr15:49064766A>G	ENST00000380950.2	-	13	1887	c.1700T>C	c.(1699-1701)tTa>tCa	p.L567S	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	567					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCATTTTGTAACTGAGACAC	0.388																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1699-1701)tTa>tCa		centrosomal protein 152kDa							168.0	153.0	157.0					15																	49064766		1902	4130	6032	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064766A>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1700T>C	15.37:g.49064766A>G	ENSP00000370337:p.Leu567Ser		Somatic				CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S	p.L567S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	WXS	Illumina GAIIx	Phase_I	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1887	-		all_lung(180;0.0428)	567					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1700T>C	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429259	0.83776	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84660	-1.88;-1.88;-1.88	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.91436	0.7297	M	0.78049	2.395	0.40781	D	0.98317	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89976	0.4097	10	0.22706	T	0.39	-9.033	14.6461	0.68762	1.0:0.0:0.0:0.0	.	474;567;567	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	567;474;567;567	ENSP00000370337:L567S;ENSP00000321000:L474S;ENSP00000382271:L567S	ENSP00000321000:L474S	L	-	2	0	CEP152	46852058	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	6.222000	0.72249	2.333000	0.79357	0.482000	0.46254	TTA		0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		3	97	0	0	0	1	0	3	97				
RP11-178C3.1	0	broad.mit.edu	37	17	58050859	58050859	+	IGR	DEL	C	C	-	rs368813643		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:58050859delC	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTGGCAGTTTTTACT	0.418																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050859delC																													17.37:g.58050859delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.418	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			3	5						3	5	---	---	---	---
RP5-1158E12.1	0	broad.mit.edu	37	X	45772800	45772800	+	lincRNA	DEL	A	A	-			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:45772800delA	ENST00000420585.1	-	0	668																											GATGGTGCAGAAATATTAGGC	0.443																																						ENST00000420585.1																			0																																																			0							g.chrX:45772800delA																													X.37:g.45772800delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	668	-									RNA	DEL	ENST00000420585.1	37																																																																																						0.443	RP5-1158E12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056345.1			2	4						2	4	---	---	---	---
ABCD1	215	broad.mit.edu	37	X	153008790	153008790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:153008790delC	ENST00000218104.3	+	9	2380	c.1981delC	c.(1981-1983)cccfs	p.P661fs	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	661	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCACCGGCCCTCCCTGTG	0.692																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1981-1983)cccfs		ATP-binding cassette, sub-family D (ALD), member 1							19.0	16.0	17.0					X																	153008790		2186	4274	6460	SO:0001589	frameshift_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153008790delC	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1981delC	X.37:g.153008790delC	ENSP00000218104:p.Pro661fs		Somatic				U52111.14_ENST00000434284.1_RNA	p.P661fs	NM_000033.3	NP_000024.2	WXS	Illumina GAIIx	Phase_I	P33897	ABCD1_HUMAN			9	2380	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		661			ABC transporter.		Q6GTZ2	Frame_Shift_Del	DEL	ENST00000218104.3	37	c.1981delC	CCDS14728.1																																																																																				0.692	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		2	4						2	4	---	---	---	---
