#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
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	636						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACAGGATAGATGT	0.473																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1087-1089)cAg>cTg		neuroblastoma breakpoint family, member 10							10.0	11.0	11.0					1																	145311839		680	1587	2267	SO:0001583	missense	100132406							g.chr1:145311839A>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1088A>T	1.37:g.145311839A>T	ENSP00000358344:p.Gln363Leu					RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000342960.5_Intron	p.Q363L			A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1278	+	all_hematologic(923;0.032)		636					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.1088A>T		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.485476	0.00163	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.02656	4.21	0.711	-1.31	0.09230	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41342	-0.9514	6	0.02654	T	1	.	1.8806	0.03227	0.2946:0.0:0.2966:0.4088	rs58277049	.	.	.	L	363;40	ENSP00000358344:Q363L	ENSP00000358344:Q363L	Q	+	2	0	NBPF10	144023196	0.962000	0.33011	0.001000	0.08648	0.023000	0.10783	0.125000	0.15749	-2.764000	0.00368	-2.525000	0.00183	CAG		0.473	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		4	65	0	0	0	0.014758	0	4	65				
TTN	7273	broad.mit.edu	37	2	179419249	179419249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:179419249G>A	ENST00000591111.1	-	282	84126	c.83902C>T	c.(83902-83904)Cga>Tga	p.R27968*	TTN_ENST00000589042.1_Nonsense_Mutation_p.R29609*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27968	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACGGCTCGGACCCGGAAG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(88825-88827)Cga>Tga		titin							39.0	40.0	40.0					2																	179419249		1877	4104	5981	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419249G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83902C>T	2.37:g.179419249G>A	ENSP00000465570:p.Arg27968*					TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R27968*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R29609*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		332	89049	-			27968			Ig-like 135.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.88825C>T		.	.	.	.	.	.	.	.	.	.	G	66	94.523692	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	27041;20544;20736;20669;20541	.	ENSP00000340554:R20736X	R	-	1	2	TTN	179127495	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.363000	0.52321	2.941000	0.99782	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21	0	0	0	0.004482	0	9	21				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	0.014758	0	3	42				
C19orf60	55049	broad.mit.edu	37	19	18701721	18701721	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:18701721C>T	ENST00000358607.6	+	4	588	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CRLF1_ENST00000594325.1_Intron|C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	171																	GGACGCTGTACGGATGCAGCA	0.622																																						ENST00000358607.6																			0											c.(511-513)Cgg>Tgg		chromosome 19 open reading frame 60							34.0	39.0	37.0					19																	18701721		2110	4233	6343	SO:0001583	missense	55049						protein binding	g.chr19:18701721C>T	AK000857	CCDS42524.1, CCDS46019.1	19p13.11	2012-10-26			ENSG00000006015	ENSG00000006015			26098	protein-coding gene	gene with protein product						12477932	Standard	NM_001100419		Approved	FLJ20850, FLJ30108, FLJ34606, FLJ37391	uc010ebs.3	Q96EN9		ENST00000358607.6:c.511C>T	19.37:g.18701721C>T	ENSP00000351422:p.Arg171Trp					CRLF1_ENST00000594325.1_Intron|C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W	p.R171W	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN			4	588	+			171					E9PAS0|Q8NAX4|Q9NWI0	Missense_Mutation	SNP	ENST00000358607.6	37	c.511C>T	CCDS42524.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592501	0.46214	.	.	ENSG00000006015	ENST00000358607;ENST00000450195	.	.	.	3.43	1.13	0.20643	.	7739.210000	0.00628	N	0.000463	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	P;D;P	0.63880	0.831;0.993;0.947	B;P;B	0.46975	0.157;0.533;0.157	T	0.17561	-1.0365	9	0.72032	D	0.01	-0.9497	5.5047	0.16848	0.2293:0.5374:0.2334:0.0	.	149;171;183	E9PAS0;Q96EN9;Q96EN9-2	.;CS060_HUMAN;.	W	171;149	.	ENSP00000351422:R171W	R	+	1	2	C19orf60	18562721	0.005000	0.15991	0.006000	0.13384	0.006000	0.05464	0.186000	0.16978	0.386000	0.24997	0.655000	0.94253	CGG		0.622	C19orf60-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000465133.1	NM_017967		3	11	0	0	0	0.004672	0	3	11				
D2HGDH	728294	broad.mit.edu	37	2	242680473	242680473	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:242680473A>G	ENST00000321264.4	+	3	527	c.318A>G	c.(316-318)ccA>ccG	p.P106P	D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000537090.1_Silent_p.P106P	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	106	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCTGAGGCCACGGACGTCGG	0.622																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(316-318)ccA>ccG		D-2-hydroxyglutarate dehydrogenase							60.0	52.0	54.0					2																	242680473		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242680473A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.318A>G	2.37:g.242680473A>G						D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000537090.1_Silent_p.P106P	p.P106P	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	527	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	106			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.318A>G	CCDS33426.1																																																																																				0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	26	0	0	0	0.001168	0	4	26				
FGD4	121512	broad.mit.edu	37	12	32778653	32778653	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:32778653A>T	ENST00000427716.2	+	14	2125	c.1701A>T	c.(1699-1701)aaA>aaT	p.K567N	FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N|FGD4_ENST00000525053.1_Missense_Mutation_p.K679N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000546442.1_Missense_Mutation_p.K474N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	567					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTGTATGAAATGTAAAGAAC	0.378																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1699-1701)aaA>aaT		FYVE, RhoGEF and PH domain containing 4							125.0	121.0	122.0					12																	32778653		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778653A>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1701A>T	12.37:g.32778653A>T	ENSP00000394487:p.Lys567Asn					FGD4_ENST00000546442.1_Missense_Mutation_p.K474N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N|FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000525053.1_Missense_Mutation_p.K679N	p.K567N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2125	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		567					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1701A>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833434	0.71258	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.39	3.06	0.35304	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.117372	0.37761	N	0.001958	T	0.62768	0.2455	N	0.05280	-0.08	0.80722	D	1	P;P;D;P	0.67145	0.941;0.941;0.996;0.835	D;P;D;P	0.65443	0.926;0.871;0.935;0.549	T	0.62348	-0.6873	10	0.45353	T	0.12	-16.961	7.6891	0.28557	0.7702:0.0:0.2298:0.0	.	679;652;567;319	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	704;652;567;319;474;679	ENSP00000449273:K704N;ENSP00000431323:K652N;ENSP00000394487:K567N;ENSP00000266482:K319N;ENSP00000446695:K474N;ENSP00000433666:K679N	ENSP00000266482:K319N	K	+	3	2	FGD4	32669920	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.184000	0.42575	0.372000	0.24591	0.454000	0.30748	AAA		0.378	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		8	49	0	0	0	0.004482	0	8	49				
UBXN6	80700	broad.mit.edu	37	19	4446104	4446104	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:4446104G>A	ENST00000301281.6	-	10	1266	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	381	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCTCCCGAGGCCAGCAGCTC	0.677																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1141-1143)gCc>gTc		UBX domain protein 6							41.0	41.0	41.0					19																	4446104		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446104G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1142C>T	19.37:g.4446104G>A	ENSP00000301281:p.Ala381Val					UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V	p.A381V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			10	1266	-			381			UBX.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.1142C>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961089	0.92791	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.40756	1.02;1.02	5.66	5.66	0.87406	UBX (3);	0.154726	0.56097	D	0.000027	T	0.54549	0.1865	L	0.46157	1.445	0.58432	D	0.999995	B;D	0.69078	0.321;0.997	B;D	0.65140	0.193;0.932	T	0.44236	-0.9341	10	0.30854	T	0.27	-33.1332	15.0391	0.71774	0.0:0.1526:0.8474:0.0	.	328;381	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	381;328	ENSP00000301281:A381V;ENSP00000378246:A328V	ENSP00000301281:A381V	A	-	2	0	UBXN6	4397104	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.805000	0.62561	2.679000	0.91253	0.561000	0.74099	GCC		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	36	0	0	0	0.003080	0	8	36				
TRPM4	54795	broad.mit.edu	37	19	49671841	49671841	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:49671841G>A	ENST00000252826.5	+	6	770	c.644G>A	c.(643-645)gGt>gAt	p.G215D	TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	215					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGTGGCGCGGTGACCCGGAG	0.657																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(643-645)gGt>gAt		transient receptor potential cation channel, subfamily M, member 4							49.0	48.0	49.0					19																	49671841		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671841G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.644G>A	19.37:g.49671841G>A	ENSP00000252826:p.Gly215Asp					TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D	p.G215D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	770	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	215					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.644G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	2.118	-0.402015	0.04865	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.02787	4.16;4.16	5.06	0.453	0.16639	.	1.274420	0.05279	N	0.519059	T	0.01523	0.0049	N	0.05177	-0.1	0.09310	N	0.999998	B;B;B	0.18610	0.029;0.006;0.017	B;B;B	0.18561	0.022;0.007;0.005	T	0.41413	-0.9510	10	0.05436	T	0.98	-4.741	6.7908	0.23699	0.3:0.1215:0.5785:0.0	.	41;215;215	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	D	215	ENSP00000252826:G215D;ENSP00000407492:G215D	ENSP00000252826:G215D	G	+	2	0	TRPM4	54363653	0.032000	0.19561	0.000000	0.03702	0.000000	0.00434	1.502000	0.35704	0.285000	0.22329	-1.093000	0.02169	GGT		0.657	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		12	37	0	0	0	0.013537	0	12	37				
IFFO1	25900	broad.mit.edu	37	12	6659951	6659951	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:6659951G>A	ENST00000396840.2	-	3	881	c.840C>T	c.(838-840)gcC>gcT	p.A280A	IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000336604.4_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	280						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGCCTCCTGGGCTTCCTGCA	0.582																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(838-840)gcC>gcT		intermediate filament family orphan 1							89.0	67.0	75.0					12																	6659951		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6659951G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.840C>T	12.37:g.6659951G>A						IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000396840.2_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR	p.A280A	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			3	881	-			280					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.840C>T		.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023200	0.07634	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.12	3.2	0.36748	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-10.551	9.9253	0.41489	0.1655:0.0:0.8345:0.0	.	.	.	.	L	12	.	.	P	-	2	0	IFFO1	6530212	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	1.085000	0.30840	2.129000	0.65627	0.485000	0.47835	CCC		0.582	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		11	43	0	0	0	0.008291	0	11	43				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	47	0	0	0	0.014758	0	5	47				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	72	0	0	0	0.004672	0	3	72				
KDM4B	23030	broad.mit.edu	37	19	5111518	5111518	+	Intron	SNP	C	C	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:5111518C>G	ENST00000159111.4	+	10	1333				KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000381759.4_Silent_p.P416P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCAGGTCCCGGCCTAGGAG	0.642																																						ENST00000381759.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1246-1248)ccC>ccG		lysine (K)-specific demethylase 4B							38.0	38.0	38.0					19																	5111518		876	1991	2867	SO:0001627	intron_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5111518C>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1115+689C>G	19.37:g.5111518C>G						KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000159111.4_Intron	p.P416P			O94953	KDM4B_HUMAN			11	1455	+			414					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.1248C>G	CCDS12138.1																																																																																				0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		3	34	0	0	0	0.004672	0	3	34				
TBX15	6913	broad.mit.edu	37	1	119474357	119474357	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:119474357G>C	ENST00000369429.3	-	2	313	c.304C>G	c.(304-306)Cct>Gct	p.P102A	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	102					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCAGGCACAGGGCCTGCAGCA	0.532																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(304-306)Cct>Gct		T-box 15							50.0	45.0	46.0					1																	119474357		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474357G>C	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.304C>G	1.37:g.119474357G>C	ENSP00000358437:p.Pro102Ala					TBX15_ENST00000207157.3_5'UTR	p.P102A			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	313	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	102					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.304C>G		.	.	.	.	.	.	.	.	.	.	G	12.94	2.088249	0.36855	.	.	ENSG00000092607	ENST00000369429	D	0.87491	-2.26	5.82	2.88	0.33553	.	0.334726	0.36972	N	0.002302	T	0.81894	0.4919	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	T	0.79936	-0.1593	7	0.42905	T	0.14	.	7.3969	0.26942	0.1998:0.1368:0.6634:0.0	.	.	.	.	A	102	ENSP00000358437:P102A	ENSP00000358437:P102A	P	-	1	0	TBX15	119275880	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	3.241000	0.51376	0.755000	0.32990	0.585000	0.79938	CCT		0.532	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		9	33	0	0	0	0.006214	0	9	33				
UNC13B	10497	broad.mit.edu	37	9	35399705	35399705	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr9:35399705C>G	ENST00000378495.3	+	35	4290	c.4068C>G	c.(4066-4068)gaC>gaG	p.D1356E	UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E|UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1356	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTCCTTGACCTCGCCCTGG	0.547																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4066-4068)gaC>gaG		unc-13 homolog B (C. elegans)							210.0	184.0	193.0					9																	35399705		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35399705C>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4068C>G	9.37:g.35399705C>G	ENSP00000367756:p.Asp1356Glu					UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E|UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E	p.D1356E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		35	4290	+	all_epithelial(49;0.212)		1356			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4068C>G	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156653	0.21454	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.72942	-0.7;-0.7;-0.7	5.55	5.55	0.83447	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.042117	0.85682	D	0.000000	T	0.42854	0.1221	N	0.11789	0.175	0.58432	D	0.999992	P;B	0.40619	0.724;0.067	B;B	0.33690	0.168;0.062	T	0.54255	-0.8321	10	0.02654	T	1	-23.1917	9.7776	0.40630	0.0:0.678:0.2492:0.0728	.	1356;1356	F8W8M9;O14795	.;UN13B_HUMAN	E	1368;1356;1356;943	ENSP00000380006:D1368E;ENSP00000367756:D1356E;ENSP00000367757:D1356E	ENSP00000367756:D1356E	D	+	3	2	UNC13B	35389705	0.495000	0.26051	1.000000	0.80357	0.992000	0.81027	-0.203000	0.09438	2.894000	0.99253	0.655000	0.94253	GAC		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		11	159	0	0	0	0.013537	0	11	159				
MARCH10	162333	broad.mit.edu	37	17	60837359	60837359	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr17:60837359A>C	ENST00000311269.5	-	4	493	c.219T>G	c.(217-219)agT>agG	p.S73R	MARCH10_ENST00000544856.2_Missense_Mutation_p.S73R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	73					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CATCCTCCTCACTAGAACTCT	0.423																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(217-219)agT>agG		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							179.0	154.0	162.0					17																	60837359		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60837359A>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.219T>G	17.37:g.60837359A>C	ENSP00000311496:p.Ser73Arg					MARCH10_ENST00000311269.5_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R	p.S73R			Q8NA82	MARHA_HUMAN			5	597	-			73					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.219T>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030124	0.19512	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.23147	1.92;1.92;1.92	5.93	0.669	0.17918	.	1.179000	0.06361	N	0.711690	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P;P;P	0.37864	0.475;0.61;0.475	B;B;B	0.35413	0.1;0.202;0.1	T	0.27054	-1.0085	10	0.54805	T	0.06	3.218	7.8661	0.29539	0.4534:0.4136:0.0:0.133	.	73;73;73	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	73	ENSP00000416177:S73R;ENSP00000311496:S73R;ENSP00000443746:S73R	ENSP00000311496:S73R	S	-	3	2	MARCH10	58191091	0.098000	0.21812	0.042000	0.18584	0.021000	0.10359	0.242000	0.18087	0.090000	0.17273	-0.313000	0.08912	AGT		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		13	52	0	0	0	0.013537	0	13	52				
ACKR4	51554	broad.mit.edu	37	3	132319255	132319255	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr3:132319255A>C	ENST00000249887.2	+	2	110	c.14A>C	c.(13-15)cAg>cCg	p.Q5P	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	5					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GCTTTGGAACAGAACCAGTCA	0.338																																						ENST00000249887.2																			0											c.(13-15)cAg>cCg		atypical chemokine receptor 4							27.0	26.0	26.0					3																	132319255		2200	4299	6499	SO:0001583	missense	51554							g.chr3:132319255A>C	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.14A>C	3.37:g.132319255A>C	ENSP00000249887:p.Gln5Pro					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	p.Q5P	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	110	+								B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.14A>C	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049731	0.19827	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.60920	0.15	5.22	1.28	0.21552	.	0.769696	0.12089	N	0.500594	T	0.42765	0.1217	L	0.36672	1.1	0.22280	N	0.999236	B	0.27068	0.167	B	0.28011	0.085	T	0.27872	-1.0061	10	0.30854	T	0.27	.	5.5241	0.16949	0.5214:0.0:0.0755:0.4031	.	5	Q9NPB9	CCRL1_HUMAN	P	5	ENSP00000249887:Q5P	ENSP00000249887:Q5P	Q	+	2	0	CCRL1	133801945	0.374000	0.25081	0.827000	0.32855	0.940000	0.58332	1.230000	0.32612	-0.022000	0.13986	0.482000	0.46254	CAG		0.338	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	7	0	0	0	0.001168	0	5	7				
SH2D4A	63898	broad.mit.edu	37	8	19231046	19231046	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:19231046A>G	ENST00000265807.3	+	8	1334	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R|SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	308					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AACAGAAATCAGGGAGTGGTG	0.383																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(922-924)cAg>cGg		SH2 domain containing 4A							50.0	46.0	48.0					8																	19231046		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19231046A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.923A>G	8.37:g.19231046A>G	ENSP00000265807:p.Gln308Arg					SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R|SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R	p.Q308R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	8	1334	+			308					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.923A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564422	0.27915	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.14391	2.51;2.51;2.51	5.99	3.51	0.40186	.	0.238747	0.36444	N	0.002587	T	0.09555	0.0235	L	0.47190	1.495	0.09310	N	0.999995	B;B	0.33549	0.417;0.037	B;B	0.24269	0.052;0.021	T	0.30268	-0.9984	10	0.09084	T	0.74	.	10.2529	0.43379	0.6795:0.3205:0.0:0.0	.	263;308	B4DDR1;Q9H788	.;SH24A_HUMAN	R	308;263;308	ENSP00000265807:Q308R;ENSP00000429482:Q263R;ENSP00000428684:Q308R	ENSP00000265807:Q308R	Q	+	2	0	SH2D4A	19275326	0.125000	0.22332	0.007000	0.13788	0.792000	0.44763	0.324000	0.19610	0.457000	0.26962	0.533000	0.62120	CAG		0.383	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		3	30	0	0	0	0.014758	0	3	30				
EBF2	64641	broad.mit.edu	37	8	25890631	25890631	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:25890631T>C	ENST00000520164.1	-	6	1058	c.521A>G	c.(520-522)gAg>gGg	p.E174G	EBF2_ENST00000408929.3_Missense_Mutation_p.E26G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	174					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGATGGAGTCTCATTTCGGTT	0.393																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(520-522)gAg>gGg		early B-cell factor 2							143.0	142.0	143.0					8																	25890631		1954	4190	6144	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25890631T>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.521A>G	8.37:g.25890631T>C	ENSP00000430241:p.Glu174Gly					EBF2_ENST00000408929.3_Missense_Mutation_p.E26G	p.E174G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	6	1058	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	174					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.521A>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	T	32	5.127760	0.94473	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.58358	0.41;0.34	5.87	5.87	0.94306	.	0.218434	0.36665	U	0.002478	T	0.71719	0.3373	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74408	-0.3675	10	0.87932	D	0	-1.7133	16.5764	0.84681	0.0:0.0:0.0:1.0	.	174	Q9HAK2	COE2_HUMAN	G	174;26	ENSP00000430241:E174G;ENSP00000386178:E26G	ENSP00000386178:E26G	E	-	2	0	EBF2	25946548	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAG		0.393	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		3	79	0	0	0	0.004672	0	3	79				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	69	0	0	0	0.004672	0	3	69				
FCRL5	83416	broad.mit.edu	37	1	157504590	157504590	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:157504590C>A	ENST00000361835.3	-	8	1652	c.1495G>T	c.(1495-1497)Ggt>Tgt	p.G499C	FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C|FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	499	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTGGGGAACCTCTCTGGACT	0.527																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1495-1497)Ggt>Tgt		Fc receptor-like 5							57.0	56.0	56.0					1																	157504590		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504590C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1495G>T	1.37:g.157504590C>A	ENSP00000354691:p.Gly499Cys					FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C|FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C	p.G499C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1652	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	499			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1495G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323776	0.41096	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.34	3.34	0.38264	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	H	0.99391	4.545	0.40985	D	0.984806	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.69262	-0.5191	9	0.87932	D	0	.	10.3477	0.43916	0.0:1.0:0.0:0.0	.	530;414;499;499;499;499	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	499;499;499;414;499	ENSP00000354691:G499C;ENSP00000349434:G499C;ENSP00000357173:G499C;ENSP00000357174:G414C;ENSP00000357172:G499C	ENSP00000349434:G499C	G	-	1	0	FCRL5	155771214	0.447000	0.25673	0.025000	0.17156	0.006000	0.05464	3.294000	0.51787	1.872000	0.54250	0.313000	0.20887	GGT		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		12	42	1	0	5.50884e-06	0.013537	9.01446e-06	12	42				
GPR151	134391	broad.mit.edu	37	5	145895152	145895152	+	Missense_Mutation	SNP	A	A	T	rs558001563	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr5:145895152A>T	ENST00000311104.2	-	1	601	c.525T>A	c.(523-525)ttT>ttA	p.F175L		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATGGTGCTAAAGAACCATT	0.522																																					Pancreas(78;420 1386 18535 37114 49710)	ENST00000311104.2																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(523-525)ttT>ttA		G protein-coupled receptor 151							104.0	92.0	96.0					5																	145895152		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895152A>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.525T>A	5.37:g.145895152A>T	ENSP00000308733:p.Phe175Leu						p.F175L	NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	601	-			175					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.525T>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592426	0.66219	.	.	ENSG00000173250	ENST00000311104	T	0.71103	-0.54	5.61	-10.6	0.00265	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.64997	1.995	0.24499	N	0.994263	D	0.89917	1.0	D	0.91635	0.999	T	0.80908	-0.1172	10	0.49607	T	0.09	.	23.5718	0.99984	0.2322:0.0:0.7678:0.0	.	175	Q8TDV0	GP151_HUMAN	L	175	ENSP00000308733:F175L	ENSP00000308733:F175L	F	-	3	2	GPR151	145875345	0.018000	0.18449	0.116000	0.21606	0.893000	0.52053	-1.282000	0.02799	-2.230000	0.00719	-0.290000	0.09829	TTT		0.522	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		12	39	0	0	0	0.016723	0	12	39				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	50	0	0	0	0.016723	0	10	50				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	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																																																			0							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		4	258	0	0	0	0.014758	0	4	258				
GNAL	2774	broad.mit.edu	37	18	11753670	11753670	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr18:11753670G>A	ENST00000423027.3	+	3	583	c.262G>A	c.(262-264)Gat>Aat	p.D88N	GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N|GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000334049.6_Missense_Mutation_p.D165N			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	88					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAATGTTAAAGATGCTATCGT	0.318																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(493-495)Gat>Aat		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							67.0	68.0	67.0					18																	11753670		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11753670G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.262G>A	18.37:g.11753670G>A	ENSP00000408489:p.Asp88Asn					GNAL_ENST00000423027.3_Missense_Mutation_p.D88N|GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N	p.D165N	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			3	1101	+			88					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.493G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243575	0.79912	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.82	5.82	0.92795	G protein alpha subunit, helical insertion (2);	0.044283	0.85682	D	0.000000	D	0.94231	0.8148	M	0.76574	2.34	0.80722	D	1	P;D	0.58970	0.776;0.984	P;D	0.64410	0.601;0.925	D	0.94100	0.7361	10	0.72032	D	0.01	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	88;165	P38405;Q86XU3	GNAL_HUMAN;.	N	27;165;88;88;88	ENSP00000334051:D165N;ENSP00000439023:D88N;ENSP00000269162:D88N;ENSP00000408489:D88N	ENSP00000269162:D88N	D	+	1	0	GNAL	11743670	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.471000	0.97696	2.745000	0.94114	0.561000	0.74099	GAT		0.318	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		11	16	0	0	0	0.016723	0	11	16				
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	lincRNA	DEL	A	A	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:700514delA	ENST00000428504.1	-	0	1039				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						actccatctcaaaaaaaaaaa	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700514delA																													1.37:g.700514delA								NR_033908.1						0	1039	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			3	5						3	5	---	---	---	---
LYPD6B	130576	broad.mit.edu	37	2	150017336	150017336	+	Intron	DEL	T	T	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:150017336delT	ENST00000409029.1	+	3	207				LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000409876.1_Intron|LYPD6B_ENST00000409642.3_Frame_Shift_Del_p.F22fs			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GACAACCACATTCTCCTTCTC	0.468																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(64-66)tcfs		LY6/PLAUR domain containing 6B							60.0	53.0	55.0					2																	150017336		1857	4073	5930	SO:0001627	intron_variant	130576					anchored to membrane|plasma membrane		g.chr2:150017336delT		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.5+29869T>-	2.37:g.150017336delT						LYPD6B_ENST00000409876.1_Intron|LYPD6B_ENST00000409029.1_Intron|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs	p.F22fs	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			3	465	+			0					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Frame_Shift_Del	DEL	ENST00000409029.1	37	c.64delT																																																																																					0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		2	4						2	4	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24774945	24774945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:24774945delA	ENST00000221166.5	+	3	2359	c.1577delA	c.(1576-1578)gaafs	p.E526fs	NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	526	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggaaggggaaaaggaggaa	0.488																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1576-1578)gafs		neurofilament, medium polypeptide							31.0	36.0	34.0					8																	24774945		2190	4270	6460	SO:0001589	frameshift_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774945delA	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1577delA	8.37:g.24774945delA	ENSP00000221166:p.Glu526fs					NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|NEFM_ENST00000521540.1_Intron	p.E526fs			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2359	+		Prostate(55;0.157)	526			Tail.		B4DGN2|E9PBF7|Q4QRK6	Frame_Shift_Del	DEL	ENST00000221166.5	37	c.1577delA	CCDS6046.1																																																																																				0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		2	4						2	4	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968044	5968044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr9:5968044delT	ENST00000399933.3	-	3	2186	c.2187delA	c.(2185-2187)aaafs	p.K729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGTTTTGCTTTTTTTTTGA	0.323																																						ENST00000399933.3																			1	Insertion - Frameshift(1)	p.A730fs*15(1)	central_nervous_system(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2185-2187)aafs		KIAA2026				62,50,3390		0,0,62,0,50,1639	21.0	21.0	21.0			5.0	1.0	9		21	131,99,7540		2,0,127,0,99,3657	no	codingComplex	KIAA2026	NM_001017969.2		2,0,189,0,149,5296	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9601,3.1982,3.0341			5968044	193,149,10930	1814	4062	5876	SO:0001589	frameshift_variant	158358							g.chr9:5968044delT	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2187delA	9.37:g.5968044delT	ENSP00000382815:p.Lys729fs					KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs	p.K729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	2186	-		Acute lymphoblastic leukemia(23;0.158)	729			Lys-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	ENST00000399933.3	37	c.2187delA																																																																																					0.323	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		3	4						3	4	---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42271199	42271199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr20:42271199delC	ENST00000373030.3	+	13	1331	c.1201delC	c.(1201-1203)cagfs	p.Q401fs	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Frame_Shift_Del_p.Q401fs	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	401					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGGACCAACAGGATGCCAA	0.448																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1201-1203)agfs		intraflagellar transport 52 homolog (Chlamydomonas)							160.0	140.0	147.0					20																	42271199		2203	4300	6503	SO:0001589	frameshift_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271199delC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1201delC	20.37:g.42271199delC	ENSP00000362121:p.Gln401fs					IFT52_ENST00000373039.4_Frame_Shift_Del_p.Q401fs|IFT52_ENST00000471199.1_3'UTR	p.Q401fs	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1331	+		Myeloproliferative disorder(115;0.00452)	401					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Frame_Shift_Del	DEL	ENST00000373030.3	37	c.1201delC	CCDS33470.1																																																																																				0.448	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		11	34						11	34	---	---	---	---
