#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	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-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	120	0	0	0	1	0	5	120				
TNR	7143	broad.mit.edu	37	1	175375785	175375785	+	Silent	SNP	C	C	T			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:175375785C>T	ENST00000367674.2	-	3	774	c.66G>A	c.(64-66)ctG>ctA	p.L22L	TNR_ENST00000263525.2_Silent_p.L22L			Q92752	TENR_HUMAN	tenascin R	22					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCATGGAGCCCAGAAGGATCA	0.542																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(64-66)ctG>ctA		tenascin R							182.0	161.0	168.0					1																	175375785		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375785C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.66G>A	1.37:g.175375785C>T						TNR_ENST00000263525.2_Silent_p.L22L	p.L22L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	774	-	Renal(580;0.146)		22					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.66G>A	CCDS1318.1																																																																																				0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	137	0	0	0	1	0	4	137				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		3	85	0	0	0	1	0	3	85				
SON	6651	broad.mit.edu	37	21	34923934	34923934	+	Silent	SNP	T	T	C	rs200724919	byFrequency	TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr21:34923934T>C	ENST00000356577.4	+	3	2872	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	SON_ENST00000381679.4_Silent_p.S799S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.S799S|SON_ENST00000290239.6_Silent_p.S799S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	799	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S799S(4)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAGCAACCAGTTCCATGGACT	0.507													T|||	3	0.000599042	0.0	0.0	5008	,	,		21644	0.0		0.001	False		,,,				2504	0.002					ENST00000356577.4																			4	Substitution - coding silent(4)	p.S799S(4)	endometrium(4)	breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2395-2397)agT>agC		SON DNA binding protein							176.0	173.0	174.0					21																	34923934		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923934T>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2397T>C	21.37:g.34923934T>C						SON_ENST00000300278.4_Silent_p.S799S|SON_ENST00000381679.4_Silent_p.S799S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S799S	p.S799S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2872	+			799			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2397T>C	CCDS13629.1																																																																																				0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		5	213	0	0	0	1	0	5	213				
DSTYK	25778	broad.mit.edu	37	1	205138795	205138795	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:205138795A>G	ENST00000367162.3	-	3	850	c.820T>C	c.(820-822)Ttt>Ctt	p.F274L	DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L|DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	274					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AATACAGGAAAGGAGAAATAC	0.453																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(820-822)Ttt>Ctt		dual serine/threonine and tyrosine protein kinase							75.0	74.0	74.0					1																	205138795		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138795A>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.820T>C	1.37:g.205138795A>G	ENSP00000356130:p.Phe274Leu					DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L|DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L	p.F274L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			3	850	-			274					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.820T>C	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	8.816	0.936332	0.18206	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.75477	-0.54;-0.87;-0.94	5.36	2.86	0.33363	.	0.254818	0.40554	N	0.001079	T	0.40372	0.1114	N	0.03071	-0.42	0.31330	N	0.684977	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.39418	-0.9615	10	0.07482	T	0.82	-5.6068	3.9388	0.09318	0.5989:0.1923:0.2087:0.0	.	274;274	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	L	274	ENSP00000356128:F274L;ENSP00000356129:F274L;ENSP00000356130:F274L	ENSP00000356128:F274L	F	-	1	0	DSTYK	203405418	0.962000	0.33011	0.994000	0.49952	0.993000	0.82548	1.224000	0.32539	2.022000	0.59522	0.459000	0.35465	TTT		0.453	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		21	38	0	0	0	1	0	21	38				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	60	0	0	0	1	0	3	60				
PSD3	23362	broad.mit.edu	37	8	18490305	18490305	+	Missense_Mutation	SNP	T	T	C	rs371167268		TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:18490305T>C	ENST00000327040.8	-	11	2330	c.2228A>G	c.(2227-2229)gAg>gGg	p.E743G	PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G|PSD3_ENST00000440756.2_Missense_Mutation_p.E745G	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	744					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTTTTTTTCTCTTCATCATC	0.358																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2233-2235)gAg>gGg		pleckstrin and Sec7 domain containing 3							123.0	100.0	108.0					8																	18490305		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18490305T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2228A>G	8.37:g.18490305T>C	ENSP00000324127:p.Glu743Gly					PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000327040.8_Missense_Mutation_p.E743G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G	p.E745G			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	11	2336	-			744					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2234A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802837	0.50315	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20463	2.69;2.7;2.07;2.69	5.93	5.93	0.95920	SEC7-like, alpha orthogonal bundle (1);	0.116282	0.31589	U	0.007390	T	0.31231	0.0790	M	0.67397	2.05	0.42010	D	0.99093	B;B;B;P	0.38420	0.102;0.102;0.002;0.63	B;B;B;P	0.45660	0.082;0.082;0.007;0.489	T	0.07385	-1.0775	10	0.51188	T	0.08	.	10.3985	0.44216	0.0:0.0:0.164:0.836	.	743;744;209;72	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	G	743;745;72;209;72;678	ENSP00000324127:E743G;ENSP00000401704:E745G;ENSP00000286485:E209G;ENSP00000430640:E678G	ENSP00000286485:E209G	E	-	2	0	PSD3	18534585	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.605000	0.61119	2.265000	0.75225	0.533000	0.62120	GAG		0.358	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		19	21	0	0	0	1	0	19	21				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	119	0	0	0	1	0	5	119				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	69	0	0	0	1	0	8	69				
IGKV2-24	28923	broad.mit.edu	37	2	89476089	89476089	+	RNA	SNP	G	G	A			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr2:89476089G>A	ENST00000484817.1	-	0	112									immunoglobulin kappa variable 2-24																		TGAGGAGAGTGGAGTCTGGGT	0.448																																						ENST00000484817.1																			0																				93.0	92.0	92.0					2																	89476089		1863	4105	5968			28923							g.chr2:89476089G>A	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89476089G>A														0	112	-									RNA	SNP	ENST00000484817.1	37																																																																																						0.448	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		5	69	0	0	0	1	0	5	69				
LIG1	3978	broad.mit.edu	37	19	48647153	48647153	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:48647153T>C	ENST00000263274.7	-	10	1263	c.844A>G	c.(844-846)Aaa>Gaa	p.K282E	LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E|CTC-453G23.4_ENST00000594589.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	282					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCCCGGTTTCCAGCAGGCA	0.532								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(844-846)Aaa>Gaa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						133.0	138.0	136.0					19																	48647153		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48647153T>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.844A>G	19.37:g.48647153T>C	ENSP00000263274:p.Lys282Glu					LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E	p.K282E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	10	1263	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	282					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.844A>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.459998	0.43736	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.88	3.77	0.43336	DNA ligase, ATP-dependent, N-terminal (2);	0.638567	0.15925	N	0.237928	T	0.18551	0.0445	L	0.56769	1.78	0.39974	D	0.974821	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.15484	0.006;0.013;0.006	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.0773	5.232	0.15426	0.1758:0.0:0.1829:0.6413	.	251;214;282	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	E	282;313;251;214;250	ENSP00000263274:K282E;ENSP00000442841:K251E;ENSP00000441531:K214E;ENSP00000445928:K250E	ENSP00000263274:K282E	K	-	1	0	LIG1	53338965	0.273000	0.24181	0.968000	0.41197	0.982000	0.71751	0.378000	0.20569	2.125000	0.65367	0.533000	0.62120	AAA		0.532	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		26	44	0	0	0	1	0	26	44				
DYNC2H1	79659	broad.mit.edu	37	11	103027262	103027262	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:103027262A>G	ENST00000375735.2	+	26	4034	c.3890A>G	c.(3889-3891)gAt>gGt	p.D1297G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1297	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACTGGAAAGATATAGTAAAT	0.343																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(3889-3891)gAt>gGt		dynein, cytoplasmic 2, heavy chain 1							96.0	95.0	95.0					11																	103027262		1833	4086	5919	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027262A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3890A>G	11.37:g.103027262A>G	ENSP00000364887:p.Asp1297Gly					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G|DYNC2H1_ENST00000334267.7_Intron	p.D1297G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4034	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1297			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.3890A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153915	0.78114	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62941	-0.01;-0.01	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.086607	0.44483	D	0.000441	D	0.82811	0.5118	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.976	D	0.87143	0.2204	10	0.87932	D	0	.	15.1907	0.73041	1.0:0.0:0.0:0.0	.	1297;1297	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	1297	ENSP00000364887:D1297G;ENSP00000381167:D1297G	ENSP00000364887:D1297G	D	+	2	0	DYNC2H1	102532472	1.000000	0.71417	0.974000	0.42286	0.961000	0.63080	8.730000	0.91510	2.001000	0.58596	0.460000	0.39030	GAT		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		24	22	0	0	0	1	0	24	22				
CPT1C	126129	broad.mit.edu	37	19	50208514	50208514	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:50208514A>G	ENST00000392518.4	+	10	1295	c.923A>G	c.(922-924)gAg>gGg	p.E308G	CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	308					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCAGTACGAGAAGATCTTC	0.562																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(922-924)gAg>gGg		carnitine palmitoyltransferase 1C							162.0	147.0	152.0					19																	50208514		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208514A>G	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.923A>G	19.37:g.50208514A>G	ENSP00000376303:p.Glu308Gly					CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G	p.E308G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1295	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	308					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.923A>G	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177452	0.78564	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.34	3.25	0.37280	.	0.259343	0.27563	N	0.018818	D	0.90587	0.7049	L	0.49126	1.545	0.42783	D	0.99387	P;D;P;P	0.76494	0.942;0.999;0.95;0.78	P;D;P;P	0.66351	0.824;0.943;0.662;0.864	D	0.90523	0.4490	10	0.87932	D	0	-31.7339	8.7521	0.34622	0.8922:0.0:0.1078:0.0	.	179;308;297;308	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	G	308;308;297;308;179	ENSP00000376303:E308G;ENSP00000346138:E308G;ENSP00000384465:E297G;ENSP00000319343:E308G	ENSP00000295404:E179G	E	+	2	0	CPT1C	54900326	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.175000	0.65021	1.833000	0.53350	0.459000	0.35465	GAG		0.562	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		36	60	0	0	0	1	0	36	60				
OR52I1	390037	broad.mit.edu	37	11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:4615722G>A	ENST00000530443.2	+	1	454	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	OR52I1_ENST00000450052.2_Missense_Mutation_p.V176I	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(526-528)Gtc>Atc		olfactory receptor, family 52, subfamily I, member 1							127.0	113.0	118.0					11																	4615722		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615722G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.454G>A	11.37:g.4615722G>A	ENSP00000436453:p.Val152Ile					OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I	p.V176I			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	526	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	152					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.526G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.920623	0.00055	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73152	-0.72;-0.72	4.96	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	N	0.000347	T	0.34513	0.0900	N	0.00966	-1.09	0.09310	N	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	9	0.07990	T	0.79	-11.8707	8.0907	0.30799	0.8305:0.0:0.1695:0.0	.	152	Q8NGK6	O52I1_HUMAN	I	176;152	ENSP00000409094:V176I;ENSP00000436453:V152I	ENSP00000409094:V176I	V	+	1	0	OR52I1	4572298	0.000000	0.05858	0.029000	0.17559	0.000000	0.00434	-0.745000	0.04834	0.464000	0.27142	-1.263000	0.01449	GTC		0.488	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		3	47	0	0	0	1	0	3	47				
CCDC39	339829	broad.mit.edu	37	3	180365982	180365982	+	Silent	SNP	A	A	G			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr3:180365982A>G	ENST00000442201.2	-	10	1452	c.1333T>C	c.(1333-1335)Ttg>Ctg	p.L445L	CCDC39_ENST00000273654.4_Silent_p.L529L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	445					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGCTGCTTCAAGGTTTCAAAA	0.343																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1585-1587)Ttg>Ctg		coiled-coil domain containing 39							89.0	86.0	87.0					3																	180365982		1842	4084	5926	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180365982A>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1333T>C	3.37:g.180365982A>G						CCDC39_ENST00000442201.2_Silent_p.L445L	p.L529L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		16	2204	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		445					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1585T>C	CCDS46964.1																																																																																				0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	15	0	0	0	1	0	7	15				
CHMP7	91782	broad.mit.edu	37	8	23104385	23104385	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:23104385delG	ENST00000397677.1	+	2	825	c.177delG	c.(175-177)ttgfs	p.L59fs	CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	59					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGCGCCGTTGGTGCTGAGCC	0.667											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(175-177)ttfs		charged multivesicular body protein 7							9.0	9.0	9.0					8																	23104385		2190	4283	6473	SO:0001589	frameshift_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23104385delG	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.177delG	8.37:g.23104385delG	ENSP00000380794:p.Leu59fs		OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	761	CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs	p.L59fs	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	825	+		Prostate(55;0.0513)	59					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Frame_Shift_Del	DEL	ENST00000397677.1	37	c.177delG	CCDS6040.1																																																																																				0.667	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		2	4						2	4	---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1254406	1254407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:1254406_1254407insC	ENST00000591446.2	+	4	1034_1035	c.625_626insC	c.(625-627)tccfs	p.S209fs	MIDN_ENST00000300952.2_Frame_Shift_Ins_p.S209fs			Q504T8	MIDN_HUMAN	midnolin	209						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCCCGTCCCCTGCATCT	0.738																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(625-627)cccfs		midnolin																																				SO:0001589	frameshift_variant	90007					nucleolus		g.chr19:1254406_1254407insC	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.629dupC	19.37:g.1254410_1254410dupC	ENSP00000467679:p.Ser209fs					MIDN_ENST00000591446.2_Frame_Shift_Ins_p.P209fs	p.P209fs	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1140_1141	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	209					Q96BW8	Frame_Shift_Ins	INS	ENST00000591446.2	37	c.625_626insC	CCDS32864.1																																																																																				0.738	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			2	4						2	4	---	---	---	---
OPN1MW2	728458	broad.mit.edu	37	X	153496178	153496178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chrX:153496178delG	ENST00000369929.4	+	5	966	c.906delG	c.(904-906)ttgfs	p.L302fs		NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	302					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACCCTTTGATGGCTGCCC	0.547																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(904-906)ttfs		opsin 1 (cone pigments), medium-wave-sensitive 2							124.0	91.0	103.0					X																	153496178		2098	3779	5877	SO:0001589	frameshift_variant	728458							g.chrX:153496178delG		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.906delG	X.37:g.153496178delG	ENSP00000358945:p.Leu302fs						p.L302fs	NM_001048181.2	NP_001041646.1					5	966	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)								Frame_Shift_Del	DEL	ENST00000369929.4	37	c.906delG	CCDS35447.1																																																																																				0.547	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		71	82						71	82	---	---	---	---
