#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
QRFPR	84109	broad.mit.edu	37	4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCTTTCTTCCGCATCATTGT	0.378																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1111-1113)cGg>cAg		pyroglutamylated RFamide peptide receptor							192.0	190.0	191.0					4																	122250653		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250653C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1112G>A	4.37:g.122250653C>T	ENSP00000377948:p.Arg371Gln					QRFPR_ENST00000334383.5_3'UTR	p.R371Q	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1523	-			371						Missense_Mutation	SNP	ENST00000394427.2	37	c.1112G>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578442	0.03854	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.0	-1.01	0.10169	.	0.634163	0.16362	N	0.217722	T	0.34774	0.0909	N	0.02539	-0.55	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.25106	T	0.35	.	2.3119	0.04188	0.1146:0.2239:0.1177:0.5438	.	371	Q96P65	QRFPR_HUMAN	Q	371	ENSP00000377948:R371Q	ENSP00000377948:R371Q	R	-	2	0	QRFPR	122470103	0.949000	0.32298	0.157000	0.22605	0.088000	0.18126	0.537000	0.23144	0.018000	0.15052	-0.573000	0.04149	CGG		0.378	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		6	189	0	0	0	1	0	6	189				
NR2F2	7026	broad.mit.edu	37	15	96877599	96877599	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:96877599G>A	ENST00000394166.3	+	2	2126	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H|NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	246	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCTGCTTCGCCTCACCTGG	0.682																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(736-738)cGc>cAc		nuclear receptor subfamily 2, group F, member 2							106.0	96.0	99.0					15																	96877599		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877599G>A	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.737G>A	15.37:g.96877599G>A	ENSP00000377721:p.Arg246His					NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H	p.R246H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2126	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		246			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.737G>A	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605694	0.96626	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.97089	0.53;0.53;-4.24;-4.24	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	L	0.55743	1.74	0.80722	D	1	D;P	0.76494	0.999;0.562	D;B	0.76575	0.988;0.219	D	0.99198	1.0872	10	0.87932	D	0	.	18.4813	0.90812	0.0:0.0:1.0:0.0	.	246;113	P24468;Q3KQR7	COT2_HUMAN;.	H	113;246;93;93	ENSP00000401674:R113H;ENSP00000377721:R246H;ENSP00000377726:R93H;ENSP00000389853:R93H	ENSP00000377721:R246H	R	+	2	0	NR2F2	94678603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	2.376000	0.81061	0.655000	0.94253	CGC		0.682	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			15	88	0	0	0	1	0	15	88				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	57	0	0	0	1	0	3	57				
SCRN1	9805	broad.mit.edu	37	7	29994961	29994961	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:29994961T>C	ENST00000426154.1	-	3	351	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.I79V|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	59					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACTTGGTCGATTGAAATGTAA	0.473																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(175-177)Atc>Gtc		secernin 1							96.0	95.0	95.0					7																	29994961		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29994961T>C	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.175A>G	7.37:g.29994961T>C	ENSP00000409068:p.Ile59Val					SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V|SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V	p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			3	351	-			59					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.175A>G	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	T	9.257	1.042219	0.19748	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.34072	3.1;3.1;3.1;3.05;2.13;1.42;1.38	5.7	0.519	0.17035	.	0.286922	0.34245	N	0.004124	T	0.26557	0.0649	L	0.41356	1.27	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.26864	0.047;0.074	T	0.06991	-1.0796	9	.	.	.	-6.5757	9.3402	0.38076	0.0:0.2821:0.0:0.7179	.	79;59	C9JPG0;Q12765	.;SCRN1_HUMAN	V	59;59;59;79;59;59;59	ENSP00000242059:I59V;ENSP00000409068:I59V;ENSP00000386872:I59V;ENSP00000388942:I79V;ENSP00000413184:I59V;ENSP00000406289:I59V;ENSP00000387052:I59V	.	I	-	1	0	SCRN1	29961486	1.000000	0.71417	0.985000	0.45067	0.901000	0.52897	1.249000	0.32839	-0.121000	0.11787	-0.380000	0.06706	ATC		0.473	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		6	84	0	0	0	1	0	6	84				
WDR12	55759	broad.mit.edu	37	2	203772675	203772675	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:203772675C>T	ENST00000261015.4	-	2	798	c.49G>A	c.(49-51)Gta>Ata	p.V17I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACATCATCTACGGCATATCTA	0.338																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(49-51)Gta>Ata		WD repeat domain 12							127.0	116.0	119.0					2																	203772675		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203772675C>T	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.49G>A	2.37:g.203772675C>T	ENSP00000261015:p.Val17Ile					WDR12_ENST00000477723.1_5'UTR	p.V17I	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			2	798	-			17						Missense_Mutation	SNP	ENST00000261015.4	37	c.49G>A	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618650	0.28801	.	.	ENSG00000138442	ENST00000261015	T	0.58940	0.3	5.18	3.4	0.38934	NLE (1);	0.169788	0.51477	N	0.000098	T	0.48714	0.1515	L	0.45137	1.4	0.58432	D	0.999999	B;B	0.14012	0.009;0.009	B;B	0.19946	0.027;0.027	T	0.40156	-0.9578	10	0.40728	T	0.16	-8.6509	11.6237	0.51132	0.0:0.853:0.0:0.147	.	17;17	Q53T99;Q9GZL7	.;WDR12_HUMAN	I	17	ENSP00000261015:V17I	ENSP00000261015:V17I	V	-	1	0	WDR12	203480920	0.335000	0.24748	0.268000	0.24571	0.383000	0.30230	0.946000	0.29069	0.689000	0.31550	-0.918000	0.02743	GTA		0.338	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		7	42	0	0	0	1	0	7	42				
PDHA1	5160	broad.mit.edu	37	X	19377663	19377663	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:19377663C>T	ENST00000422285.2	+	11	1170	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379806.5_Silent_p.A393A|PDHA1_ENST00000379804.1_Silent_p.A74A|MAP3K15_ENST00000518578.1_5'Flank|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000545074.1_Silent_p.A362A			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	355					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TTGCCACGGCCGATCCTGAGC	0.468																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(1177-1179)gcC>gcT		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						111.0	94.0	100.0					X																	19377663		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19377663C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.1065C>T	X.37:g.19377663C>T						PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000545074.1_Silent_p.A362A|PDHA1_ENST00000379804.1_Silent_p.A74A|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000422285.2_Silent_p.A355A	p.A393A	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			12	1324	+	Hepatocellular(33;0.183)		355					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.1179C>T	CCDS14192.1																																																																																				0.468	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			4	113	0	0	0	1	0	4	113				
AGTPBP1	23287	broad.mit.edu	37	9	88201794	88201794	+	Silent	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:88201794A>G	ENST00000357081.3	-	22	3129	c.2985T>C	c.(2983-2985)caT>caC	p.H995H	AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	995					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCCCTTAGCATGGTAAATTG	0.393																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2983-2985)caT>caC		ATP/GTP binding protein 1							140.0	126.0	131.0					9																	88201794		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88201794A>G	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2985T>C	9.37:g.88201794A>G						AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000432218.1_Intron	p.H995H			Q9UPW5	CBPC1_HUMAN			22	3129	-			995					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2985T>C																																																																																					0.393	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	136	0	0	0	1	0	4	136				
ROCK2	9475	broad.mit.edu	37	2	11427813	11427813	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:11427813T>C	ENST00000315872.6	-	2	639	c.191A>G	c.(190-192)aAa>aGa	p.K64R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	64					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTCTTGTTTTTCCTCAAAGC	0.274																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(190-192)aAa>aGa		Rho-associated, coiled-coil containing protein kinase 2							35.0	33.0	33.0					2																	11427813		1796	4045	5841	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11427813T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.191A>G	2.37:g.11427813T>C	ENSP00000317985:p.Lys64Arg					ROCK2_ENST00000462366.1_5'UTR	p.K64R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	2	639	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		64					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.191A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	5.019	0.189237	0.09547	.	.	ENSG00000134318	ENST00000315872	T	0.61980	0.06	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	N	0.21324	0.655	0.80722	D	1	B	0.16802	0.019	B	0.15484	0.013	T	0.34054	-0.9844	10	0.02654	T	1	.	13.0584	0.58994	0.0:0.0:0.0:1.0	.	64	O75116	ROCK2_HUMAN	R	64	ENSP00000317985:K64R	ENSP00000261535:K64R	K	-	2	0	ROCK2	11345264	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.037000	0.76531	1.734000	0.51633	0.482000	0.46254	AAA		0.274	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			16	32	0	0	0	1	0	16	32				
PREB	10113	broad.mit.edu	37	2	27356048	27356048	+	Silent	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:27356048G>A	ENST00000260643.2	-	3	736	c.483C>T	c.(481-483)tgC>tgT	p.C161C	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Silent_p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGTTGAAGCACACAACTT	0.542																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(481-483)tgC>tgT		prolactin regulatory element binding							263.0	272.0	269.0					2																	27356048		2203	4300	6503	SO:0001819	synonymous_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27356048G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.483C>T	2.37:g.27356048G>A						PREB_ENST00000406567.3_Silent_p.C161C|PREB_ENST00000416802.1_5'UTR	p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			3	736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.483C>T	CCDS1738.1																																																																																				0.542	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		6	220	0	0	0	1	0	6	220				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		5	115	0	0	0	1	0	5	115				
ANKFY1	51479	broad.mit.edu	37	17	4098228	4098228	+	Intron	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:4098228G>A	ENST00000341657.4	-	10	1408				ANKFY1_ENST00000570535.1_Intron|ANKFY1_ENST00000433651.1_Missense_Mutation_p.R473C|Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000574367.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1						endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATTTCCTGGCGCCTGCAGACC	0.502																																						ENST00000433651.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1417-1419)Cgc>Tgc		ankyrin repeat and FYVE domain containing 1							18.0	19.0	19.0					17																	4098228		1983	4153	6136	SO:0001627	intron_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4098228G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1372+44C>T	17.37:g.4098228G>A						ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000570535.1_Intron	p.R473C			Q9P2R3	ANFY1_HUMAN			10	1454	-			0					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1417C>T		.	.	.	.	.	.	.	.	.	.	G	8.197	0.797295	0.16327	.	.	ENSG00000185722	ENST00000433651	T	0.50548	0.74	4.88	-2.85	0.05734	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	8	0.48119	T	0.1	.	2.7969	0.05403	0.1905:0.2504:0.4406:0.1185	.	473	Q9P2R3-3	.	C	473	ENSP00000416005:R473C	ENSP00000416005:R473C	R	-	1	0	ANKFY1	4044977	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.450000	0.06803	-0.859000	0.04105	-1.321000	0.01291	CGC		0.502	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		6	13	0	0	0	1	0	6	13				
ANKRD32	84250	broad.mit.edu	37	5	94027275	94027275	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr5:94027275C>A	ENST00000265140.5	+	19	2845	c.2426C>A	c.(2425-2427)aCa>aAa	p.T809K		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	809						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GCAGGAGAAACAGCCCTGCAT	0.353																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2425-2427)aCa>aAa		ankyrin repeat domain 32							37.0	39.0	38.0					5																	94027275		2202	4298	6500	SO:0001583	missense	84250							g.chr5:94027275C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2426C>A	5.37:g.94027275C>A	ENSP00000265140:p.Thr809Lys						p.T809K	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	19	2845	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	809					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2426C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904919	0.72868	.	.	ENSG00000133302	ENST00000265140	T	0.77358	-1.09	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.118020	0.56097	D	0.000034	D	0.91294	0.7255	M	0.92833	3.35	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	D	0.92954	0.6383	10	0.87932	D	0	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	809	Q9BQI6	ANR32_HUMAN	K	809	ENSP00000265140:T809K	ENSP00000265140:T809K	T	+	2	0	ANKRD32	94053031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.100000	0.76989	2.662000	0.90505	0.650000	0.86243	ACA		0.353	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		8	31	1	0	0.0581538	1	0.0596076	8	31				
SPICE1	152185	broad.mit.edu	37	3	113172643	113172643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:113172643C>T	ENST00000295872.4	-	14	2071	c.1812G>A	c.(1810-1812)tgG>tgA	p.W604*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	604					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.W604C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAGACTCTCCATCTCTGAG	0.413																																						ENST00000295872.4																			2	Substitution - Missense(2)	p.W604C(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1810-1812)tgG>tgA		spindle and centriole associated protein 1							125.0	126.0	126.0					3																	113172643		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172643C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1812G>A	3.37:g.113172643C>T	ENSP00000295872:p.Trp604*						p.W604*	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2071	-			604					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.1812G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.862505	0.98531	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.48	5.48	0.80851	.	0.374733	0.24396	N	0.038898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8946	14.8649	0.70406	0.0:1.0:0.0:0.0	.	.	.	.	X	604	.	ENSP00000295872:W604X	W	-	3	0	SPICE1	114655333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.046000	0.57376	2.569000	0.86673	0.557000	0.71058	TGG		0.413	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		8	105	0	0	0	1	0	8	105				
PUF60	22827	broad.mit.edu	37	8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517																																						ENST00000526683.1																			1	Substitution - Missense(1)	p.V493M(1)	kidney(1)	NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(1477-1479)Gtg>Atg		poly-U binding splicing factor 60KDa							250.0	269.0	263.0					8																	144898893		2132	4219	6351	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898893C>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1477G>A	8.37:g.144898893C>T	ENSP00000434359:p.Val493Met					PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M	p.V493M	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	2032	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		493			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1477G>A	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522691	0.85600	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	5.41	5.41	0.78517	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.975	T	0.71391	-0.4607	10	0.87932	D	0	.	18.1632	0.89716	0.0:1.0:0.0:0.0	.	476;493	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	M	493;450;433;464;476;447	ENSP00000434359:V493M;ENSP00000402953:V450M;ENSP00000322016:V433M;ENSP00000395417:V464M;ENSP00000322036:V476M;ENSP00000431960:V447M	ENSP00000322016:V433M	V	-	1	0	PUF60	144970881	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.393000	0.66279	2.537000	0.85549	0.551000	0.68910	GTG		0.517	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		4	211	0	0	0	1	0	4	211				
FBN3	84467	broad.mit.edu	37	19	8160343	8160343	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:8160343C>T	ENST00000600128.1	-	46	6115	c.5701G>A	c.(5701-5703)Ggc>Agc	p.G1901S	FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S|FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S			Q75N90	FBN3_HUMAN	fibrillin 3	1901	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGCAATGGCCAAATCGGCAC	0.542																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5701-5703)Ggc>Agc		fibrillin 3							116.0	82.0	94.0					19																	8160343		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8160343C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5701G>A	19.37:g.8160343C>T	ENSP00000470498:p.Gly1901Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S	p.G1901S			Q75N90	FBN3_HUMAN			46	6115	-			1901			EGF-like 30; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5701G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001796	0.93227	.	.	ENSG00000142449	ENST00000270509	D	0.89050	-2.46	4.68	4.68	0.58851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.93304	0.7866	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92895	0.6334	10	0.40728	T	0.16	.	17.6155	0.88066	0.0:1.0:0.0:0.0	.	1901	Q75N90	FBN3_HUMAN	S	1901	ENSP00000270509:G1901S	ENSP00000270509:G1901S	G	-	1	0	FBN3	8066343	1.000000	0.71417	0.985000	0.45067	0.760000	0.43138	7.255000	0.78338	2.142000	0.66516	0.655000	0.94253	GGC		0.542	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	36	0	0	0	1	0	10	36				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	29	0	0	0	1	0	4	29				
KIAA1958	158405	broad.mit.edu	37	9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557																																						ENST00000337530.6																			1	Substitution - Missense(1)	p.R487H(1)	large_intestine(1)	endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1459-1461)cGc>cAc		KIAA1958							50.0	47.0	48.0					9																	115421658		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115421658G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1460G>A	9.37:g.115421658G>A	ENSP00000336940:p.Arg487His					KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	p.R487H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1756	+			487					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1460G>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958192	0.73902	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.65417	0.2689	L	0.29908	0.895	0.46078	D	0.998851	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68176	-0.5478	8	0.87932	D	0	.	13.6923	0.62553	0.0763:0.0:0.9237:0.0	.	515;487	B7ZKW6;Q8N8K9	.;K1958_HUMAN	H	487;515	.	ENSP00000336940:R487H	R	+	2	0	KIAA1958	114461479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.928000	0.56506	2.599000	0.87857	0.655000	0.94253	CGC		0.557	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		3	54	0	0	0	1	0	3	54				
FAM66D	100132923	broad.mit.edu	37	8	11985819	11985819	+	RNA	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:11985819A>G	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		CGTTGTGACAACTCCACCCGG	0.473																																						ENST00000434078.2																			0																																																			0							g.chr8:11985819A>G			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11985819A>G								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.473	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		9	25	0	0	0	1	0	9	25				
TTI1	9675	broad.mit.edu	37	20	36640810	36640810	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr20:36640810C>T	ENST00000373448.2	-	3	1647	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TTI1_ENST00000449821.1_Missense_Mutation_p.R470H|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	470					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTGGATGCGGTTCCAAGG	0.463																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1408-1410)cGc>cAc		TELO2 interacting protein 1							63.0	67.0	66.0					20																	36640810		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640810C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1409G>A	20.37:g.36640810C>T	ENSP00000362547:p.Arg470His					TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H	p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1647	-			470					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1409G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	c	0.557	-0.847090	0.02651	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.68479	-0.33;-0.33;-0.33	5.08	-1.07	0.09968	Armadillo-type fold (1);	1.096590	0.06874	N	0.801308	T	0.50718	0.1632	N	0.25647	0.755	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34378	-0.9831	10	0.40728	T	0.16	-25.4045	7.537	0.27717	0.0:0.5185:0.1562:0.3253	.	470	O43156	TTI1_HUMAN	H	470	ENSP00000362547:R470H;ENSP00000362546:R470H;ENSP00000407270:R470H	ENSP00000362546:R470H	R	-	2	0	TTI1	36074224	0.001000	0.12720	0.000000	0.03702	0.286000	0.27126	0.351000	0.20096	-0.395000	0.07715	-0.285000	0.09966	CGC		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	74	0	0	0	1	0	4	74				
PILRB	29990	broad.mit.edu	37	7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:99956381A>G	ENST00000452089.1	+	7	1192	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000609309.1_Missense_Mutation_p.M45V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Missense_Mutation_p.M45V			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	45	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCTCCATGGGTGGCTC	0.552																																						ENST00000310771.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(133-135)Atg>Gtg		paired immunoglobin-like type 2 receptor beta							59.0	63.0	62.0					7																	99956381		2202	4292	6494	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956381A>G	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.133A>G	7.37:g.99956381A>G	ENSP00000391748:p.Met45Val					PILRB_ENST00000444874.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000452089.1_Missense_Mutation_p.M45V|PILRB_ENST00000448382.1_Intron	p.M45V			Q9UKJ0	PILRB_HUMAN			16	2629	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		45			Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.133A>G	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	A	5.191	0.220749	0.09863	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;2.12	2.48	-3.38	0.04883	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.841170	0.02823	N	0.125801	T	0.46964	0.1420	N	0.22421	0.69	0.09310	N	1	B	0.29162	0.235	B	0.32289	0.143	T	0.28902	-1.0029	9	.	.	.	.	7.8011	0.29174	0.3757:0.0:0.6243:0.0	.	45	Q9UKJ0	PILRB_HUMAN	V	45;45;45;45;45;45;45;45;150;45	ENSP00000311153:M45V;ENSP00000391748:M45V;ENSP00000411261:M45V;ENSP00000403757:M45V;ENSP00000404321:M45V;ENSP00000389856:M45V;ENSP00000410764:M45V;ENSP00000408425:M45V	.	M	+	1	0	PILRB	99794317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.454000	0.02381	-0.688000	0.05155	-1.415000	0.01116	ATG		0.552	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		4	78	0	0	0	1	0	4	78				
C1orf158	93190	broad.mit.edu	37	1	12815698	12815698	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:12815698T>C	ENST00000288048.5	+	2	376	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	54										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAAGAATACATCCCCTT	0.483																																						ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(160-162)Tac>Cac		chromosome 1 open reading frame 158							114.0	106.0	109.0					1																	12815698		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12815698T>C	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.160T>C	1.37:g.12815698T>C	ENSP00000288048:p.Tyr54His					C1orf158_ENST00000376210.3_Intron	p.Y54H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	376	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	54					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.160T>C	CCDS147.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630078	0.28978	.	.	ENSG00000157330	ENST00000288048	T	0.57107	0.42	4.98	4.98	0.66077	.	0.234953	0.35936	N	0.002885	T	0.68375	0.2994	M	0.72118	2.19	0.41274	D	0.986862	D;D	0.71674	0.998;0.997	D;P	0.69142	0.962;0.899	T	0.72663	-0.4225	10	0.87932	D	0	-19.6347	11.049	0.47876	0.0:0.0:0.0:1.0	.	54;54	B4DQE0;Q8N1D5	.;CA158_HUMAN	H	54	ENSP00000288048:Y54H	ENSP00000288048:Y54H	Y	+	1	0	C1orf158	12738285	0.326000	0.24669	0.007000	0.13788	0.005000	0.04900	3.555000	0.53727	1.856000	0.53863	0.459000	0.35465	TAC		0.483	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		24	21	0	0	0	1	0	24	21				
SLMAP	7871	broad.mit.edu	37	3	57847745	57847745	+	Silent	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:57847745T>C	ENST00000428312.1	+	9	992	c.898T>C	c.(898-900)Tta>Cta	p.L300L	SLMAP_ENST00000383718.3_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000449503.2_Silent_p.L300L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	300					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAGGAAGAATTAAGAGAATT	0.313																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(898-900)Tta>Cta		sarcolemma associated protein							91.0	103.0	99.0					3																	57847745		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57847745T>C	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.898T>C	3.37:g.57847745T>C						SLMAP_ENST00000428312.1_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000295952.3_Silent_p.L300L	p.L300L			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	9	996	+			300					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.898T>C																																																																																					0.313	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		4	187	0	0	0	1	0	4	187				
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs376509101|rs13296987	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637													A|||	80	0.0159744	0.0333	0.0029	5008	,	,		13171	0.001		0.004	False		,,,				2504	0.0297					ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(664-666)caA>caG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							12.0	14.0	13.0					9																	2039776		2197	4275	6472	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039776A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.666A>G	9.37:g.2039776A>G						SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q	p.Q222Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	875	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	222			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.666A>G	CCDS34977.1																																																																																				0.637	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		3	35	0	0	0	1	0	3	35				
SPTBN5	51332	broad.mit.edu	37	15	42182318	42182318	+	Missense_Mutation	SNP	C	C	T	rs547989631		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:42182318C>T	ENST00000320955.6	-	4	697	c.470G>A	c.(469-471)cGt>cAt	p.R157H	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	157	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATCTGGAAACGCAGAATGAT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.001					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(469-471)cGt>cAt		spectrin, beta, non-erythrocytic 5							114.0	117.0	116.0					15																	42182318		2072	4208	6280	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42182318C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.470G>A	15.37:g.42182318C>T	ENSP00000317790:p.Arg157His						p.R157H	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	4	697	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	157			Actin-binding.|CH 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.071930	0.93950	.	.	ENSG00000137877	ENST00000320955	D	0.95342	-3.68	4.89	4.89	0.63831	Calponin homology domain (5);	0.000000	0.64402	D	0.000012	D	0.94981	0.8376	N	0.21448	0.665	0.36025	D	0.838983	D	0.89917	1.0	D	0.97110	1.0	D	0.97959	1.0336	10	0.87932	D	0	.	17.6999	0.88291	0.0:1.0:0.0:0.0	.	157	Q9NRC6	SPTN5_HUMAN	H	157	ENSP00000317790:R157H	ENSP00000317790:R157H	R	-	2	0	SPTBN5	39969610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.246000	0.51414	2.250000	0.74265	0.655000	0.94253	CGT		0.592	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	6	0	0	0	1	0	4	6				
GPR132	29933	broad.mit.edu	37	14	105518118	105518118	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr14:105518118G>A	ENST00000329797.3	-	4	1267	c.356C>T	c.(355-357)gCc>gTc	p.A119V	GPR132_ENST00000392585.2_Missense_Mutation_p.A110V|GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAAGATGTAGGCGGTCACCTT	0.612																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(355-357)gCc>gTc		G protein-coupled receptor 132							180.0	160.0	167.0					14																	105518118		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518118G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.356C>T	14.37:g.105518118G>A	ENSP00000328818:p.Ala119Val					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000392585.2_Missense_Mutation_p.A110V	p.A119V	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1267	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	119					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.356C>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802150	0.70682	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37235	1.21;1.21;1.21	4.83	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.130318	0.50627	D	0.000119	T	0.48169	0.1485	L	0.39467	1.215	0.32876	D	0.509881	D;D	0.71674	0.994;0.998	D;D	0.64595	0.927;0.927	T	0.58387	-0.7645	10	0.34782	T	0.22	.	17.7613	0.88465	0.0:0.6825:0.3175:0.0	.	110;119	B4E144;Q9UNW8	.;GP132_HUMAN	V	119;110;119	ENSP00000328818:A119V;ENSP00000376364:A110V;ENSP00000438094:A119V	ENSP00000328818:A119V	A	-	2	0	GPR132	104589163	1.000000	0.71417	0.527000	0.27925	0.784000	0.44337	3.044000	0.49830	0.024000	0.15214	0.462000	0.41574	GCC		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		27	163	0	0	0	1	0	27	163				
CKM	1158	broad.mit.edu	37	19	45810787	45810787	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:45810787G>A	ENST00000221476.3	-	7	1073	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	300	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCTCAGGTGCGCCAGCTTCAC	0.637																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(898-900)gCg>gTg		creatine kinase, muscle	Creatine(DB00148)						83.0	73.0	76.0					19																	45810787		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810787G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.899C>T	19.37:g.45810787G>A	ENSP00000221476:p.Ala300Val						p.A300V	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	7	1073	-		Ovarian(192;0.0336)|all_neural(266;0.112)	300			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.899C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776457	0.70107	.	.	ENSG00000104879	ENST00000221476	T	0.22134	1.97	5.3	4.22	0.49857	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.228638	0.44688	D	0.000435	T	0.11537	0.0281	N	0.14661	0.345	0.43740	D	0.996238	B	0.34226	0.443	B	0.23150	0.044	T	0.09143	-1.0688	10	0.66056	D	0.02	-25.9749	12.1876	0.54247	0.0:0.0:0.788:0.212	.	300	P06732	KCRM_HUMAN	V	300	ENSP00000221476:A300V	ENSP00000221476:A300V	A	-	2	0	CKM	50502627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.890000	0.87313	1.075000	0.40932	0.561000	0.74099	GCG		0.637	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			9	19	0	0	0	1	0	9	19				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	54	0	0	0	1	0	3	54				
CPNE5	57699	broad.mit.edu	37	6	36711479	36711479	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:36711479C>T	ENST00000244751.2	-	20	2174	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACGATGTCGCGTTCAGCCAG	0.642																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1549-1551)cGc>cAc		copine V							101.0	99.0	100.0					6																	36711479		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36711479C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1550G>A	6.37:g.36711479C>T	ENSP00000244751:p.Arg517His					CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	p.R517H	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			20	2174	-			517			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1550G>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953976	0.92660	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.18657	2.76;2.2	5.28	5.28	0.74379	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	H	0.96916	3.905	0.80722	D	1	P	0.48230	0.907	B	0.44044	0.439	T	0.61202	-0.7110	10	0.87932	D	0	.	16.4092	0.83701	0.0:1.0:0.0:0.0	.	517	Q9HCH3	CPNE5_HUMAN	H	517;225	ENSP00000244751:R517H;ENSP00000376885:R225H	ENSP00000244751:R517H	R	-	2	0	CPNE5	36819457	0.966000	0.33281	0.623000	0.29173	0.913000	0.54294	7.424000	0.80242	2.488000	0.83962	0.462000	0.41574	CGC		0.642	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		10	107	0	0	0	1	0	10	107				
OTOA	146183	broad.mit.edu	37	16	21689897	21689897	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:21689897C>T	ENST00000286149.4	+	1	63	c.62C>T	c.(61-63)tCg>tTg	p.S21L	OTOA_ENST00000388958.3_Missense_Mutation_p.S21L			Q7RTW8	OTOAN_HUMAN	otoancorin	21					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATGGAGTGTCGAGTTATACA	0.428																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(61-63)tCg>tTg		otoancorin							115.0	101.0	105.0					16																	21689897		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21689897C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.62C>T	16.37:g.21689897C>T	ENSP00000286149:p.Ser21Leu					OTOA_ENST00000286149.4_Missense_Mutation_p.S21L	p.S21L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	1	63	+			21					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.62C>T		.	.	.	.	.	.	.	.	.	.	C	9.096	1.002855	0.19121	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.67345	-0.26;-0.25	5.77	2.74	0.32292	.	0.571701	0.17097	N	0.187140	T	0.45458	0.1343	N	0.19112	0.55	0.09310	N	0.999999	P	0.35982	0.531	B	0.28465	0.09	T	0.38972	-0.9636	10	0.72032	D	0.01	0.1178	8.3378	0.32225	0.0:0.7474:0.0:0.2526	.	21	E9PF51	.	L	21	ENSP00000373610:S21L;ENSP00000286149:S21L	ENSP00000286149:S21L	S	+	2	0	OTOA	21597398	0.000000	0.05858	0.021000	0.16686	0.003000	0.03518	-0.080000	0.11339	0.781000	0.33589	0.655000	0.94253	TCG		0.428	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	103	0	0	0	1	0	8	103				
DCBLD1	285761	broad.mit.edu	37	6	117859903	117859903	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:117859903A>G	ENST00000338728.5	+	8	1001	c.881A>G	c.(880-882)gAc>gGc	p.D294G	DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	294	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CGACTTCAGGACCAAGGCCCA	0.527																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(880-882)gAc>gGc		discoidin, CUB and LCCL domain containing 1							56.0	54.0	55.0					6																	117859903		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117859903A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.881A>G	6.37:g.117859903A>G	ENSP00000342422:p.Asp294Gly					DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G|GOPC_ENST00000467125.1_Intron	p.D294G			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	8	1001	+		all_cancers(87;0.171)	294			F5/8 type C.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.881A>G		.	.	.	.	.	.	.	.	.	.	A	11.27	1.590288	0.28357	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	D;D	0.96745	-4.11;-4.11	4.17	4.17	0.49024	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.425726	0.23367	N	0.048948	D	0.84624	0.5513	N	0.03294	-0.36	0.80722	D	1	P;D	0.53312	0.606;0.959	B;P	0.50049	0.352;0.629	D	0.83608	0.0132	10	0.18276	T	0.48	-17.1176	4.7625	0.13115	0.6063:0.156:0.0:0.2377	.	294;294	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	G	294	ENSP00000296955:D294G;ENSP00000342422:D294G	ENSP00000296955:D294G	D	+	2	0	DCBLD1	117966596	0.998000	0.40836	0.993000	0.49108	0.821000	0.46438	1.207000	0.32333	1.754000	0.51921	0.379000	0.24179	GAC		0.527	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		15	44	0	0	0	1	0	15	44				
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2824-2826)Gag>Aag		desmoglein 1							234.0	227.0	229.0					18																	28934983		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934983G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2824G>A	18.37:g.28934983G>A	ENSP00000257192:p.Glu942Lys					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K	p.E942K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3036	+			942					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2824G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776418	0.31411	.	.	ENSG00000134760	ENST00000257192	T	0.79940	-1.32	6.17	5.3	0.74995	.	0.433269	0.23906	N	0.043398	D	0.82549	0.5061	M	0.81802	2.56	0.46981	D	0.999279	D	0.54601	0.967	B	0.42361	0.385	D	0.85670	0.1294	10	0.72032	D	0.01	.	15.8705	0.79117	0.0646:0.0:0.9354:0.0	.	942	Q02413	DSG1_HUMAN	K	942	ENSP00000257192:E942K	ENSP00000257192:E942K	E	+	1	0	DSG1	27188981	1.000000	0.71417	0.087000	0.20705	0.649000	0.38597	3.910000	0.56371	1.631000	0.50456	0.655000	0.94253	GAG		0.488	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		16	236	0	0	0	1	0	16	236				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	76	0	0	0	1	0	3	76				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	88	0	0	0	1	0	20	88				
HSPG2	3339	broad.mit.edu	37	1	22163414	22163414	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:22163414G>T	ENST00000374695.3	-	75	10315	c.10236C>A	c.(10234-10236)agC>agA	p.S3412R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3412	Ig-like C2-type 20.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGCCCCAATGCTCTTGGTCT	0.662																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10234-10236)agC>agA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58.0	47.0	51.0					1																	22163414		2190	4279	6469	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163414G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10236C>A	1.37:g.22163414G>T	ENSP00000363827:p.Ser3412Arg						p.S3412R	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	75	10315	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3412			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10236C>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216896	0.39201	.	.	ENSG00000142798	ENST00000374695	T	0.68331	-0.32	4.59	2.67	0.31697	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.302373	0.23896	N	0.043484	T	0.41465	0.1160	N	0.11892	0.195	0.25038	N	0.991222	P;P	0.42161	0.464;0.772	B;B	0.39771	0.219;0.309	T	0.23368	-1.0190	10	0.15952	T	0.53	.	6.7009	0.23225	0.1735:0.1484:0.6781:0.0	.	1352;3412	Q59EG0;P98160	.;PGBM_HUMAN	R	3412	ENSP00000363827:S3412R	ENSP00000363827:S3412R	S	-	3	2	HSPG2	22036001	0.878000	0.30173	0.999000	0.59377	0.917000	0.54804	0.092000	0.15066	1.159000	0.42565	0.655000	0.94253	AGC		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	2	1	0	1	1	1	2	2				
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	lincRNA	INS	-	-	T	rs397801707|rs201148896|rs11419253	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													|||unknown(HR)	3540	0.706869	0.5461	0.6888	5008	,	,		19745	0.8621		0.7624	False		,,,				2504	0.7198					ENST00000550019.1																			0																																																			0							g.chr12:47761313_47761314insT																													12.37:g.47761324_47761324dupT														0	262	+									RNA	INS	ENST00000550019.1	37																																																																																						0.406	RP11-493L12.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405335.1			10	5						10	5	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122674761	122674761	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:122674761C>T	ENST00000339777.4	+	5	775	c.747C>T	c.(745-747)caC>caT	p.H249H	LRRC43_ENST00000425921.1_Silent_p.H64H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	249										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCTCCGGCACCTGCGACTCC	0.652																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(745-747)caC>caT		leucine rich repeat containing 43							90.0	102.0	98.0					12																	122674761		2160	4258	6418	SO:0001819	synonymous_variant	254050							g.chr12:122674761C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.747C>T	12.37:g.122674761C>T						LRRC43_ENST00000425921.1_Silent_p.H64H	p.H249H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	775	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		249					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.747C>T	CCDS45001.1																																																																																				0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		10	83	0	0	0	1	0	10	83				
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		9	389						9	389	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37618565	37618566	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:37618565_37618566insAC	ENST00000447079.4	+	1	274_275	c.241_242insAC	c.(241-243)gacfs	p.D81fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.D81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	81					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTCTGATTCCGACACCTTCTCC	0.53			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(241-243)cacfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618565_37618566insAC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.244_245dupAC	17.37:g.37618568_37618569dupAC	ENSP00000398880:p.Asp81fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.H81fs	p.H81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	274_275	+			81					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.241_242insAC	CCDS11337.1																																																																																				0.530	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		10	55						10	55	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438																																						ENST00000424306.1																			0																																																			0							g.chrX:136030245delT																													X.37:g.136030245delT														0	2052	+									RNA	DEL	ENST00000424306.1	37																																																																																						0.438	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			5	6						5	6	---	---	---	---
