#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
FOXG1	2290	broad.mit.edu	37	14	29237034	29237034	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	ENST00000313071.4	+	1	748	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.P183P|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	183				P -> PP (in Ref. 1; CAA52241). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAAGCCGCCGTTCAGCTACA	0.637																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(547-549)ccG>ccA		forkhead box G1							37.0	39.0	38.0					14																	29237034		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr14:29237034G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.549G>A	14.37:g.29237034G>A						FOXG1_ENST00000313071.4_Silent_p.P183P	p.P183P			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	918	+			183	P -> PP (in Ref. 1; CAA52241).				A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.549G>A	CCDS9636.1																																																																																				0.637	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			8	16	0	0	0	1	0	8	16				
LYPD4	147719	broad.mit.edu	37	19	42341280	42341280	+	Silent	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	ENST00000330743.3	-	5	1889	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	226						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(676-678)gcA>gcC		LY6/PLAUR domain containing 4							148.0	135.0	140.0					19																	42341280		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42341280T>G	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.678A>C	19.37:g.42341280T>G						LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A	p.A226A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			5	1889	-			226					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.678A>C	CCDS12587.1																																																																																				0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		3	60	0	0	0	1	0	3	60				
TRPC7	57113	broad.mit.edu	37	5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	ENST00000513104.1	-	10	2567	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T|TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	762					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATTCCTCATGCCAGCCTG	0.453																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(2284-2286)aTg>aCg		transient receptor potential cation channel, subfamily C, member 7							138.0	137.0	137.0					5																	135561020		1947	4144	6091	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135561020A>G	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2285T>C	5.37:g.135561020A>G	ENSP00000426070:p.Met762Thr					TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T	p.M762T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	2567	-			762					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.2285T>C	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	A	3.662	-0.069404	0.07228	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.28;-1.28;-1.28	5.01	3.84	0.44239	.	0.640442	0.17683	N	0.165561	T	0.59715	0.2214	N	0.11560	0.145	0.29390	N	0.862657	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.49031	-0.8981	10	0.14252	T	0.57	-14.0363	7.976	0.30155	0.7912:0.1361:0.0727:0.0	.	646;701;707;762	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	T	701;646;762;762	ENSP00000347312:M701T;ENSP00000441628:M646T;ENSP00000426070:M762T	ENSP00000265193:M762T	M	-	2	0	TRPC7	135588919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.650000	0.37292	0.928000	0.37168	0.533000	0.62120	ATG		0.453	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		6	12	0	0	0	1	0	6	12				
DIS3	22894	broad.mit.edu	37	13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	ENST00000377767.4	-	10	1563	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	488					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1462-1464)gAt>gGt		DIS3 mitotic control homolog (S. cerevisiae)							113.0	113.0	113.0					13																	73346337		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346337T>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1463A>G	13.37:g.73346337T>C	ENSP00000366997:p.Asp488Gly	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	p.D488G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	10	1563	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	488					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1463A>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641725	0.87859	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.66099	-0.19;-0.19;-0.19	5.48	5.48	0.80851	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93747	0.7055	10	0.87932	D	0	.	15.533	0.75980	0.0:0.0:0.0:1.0	.	458;488	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	G	488;458;326	ENSP00000366997:D488G;ENSP00000367011:D458G;ENSP00000440058:D326G	ENSP00000366997:D488G	D	-	2	0	DIS3	72244338	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.217000	0.72218	2.198000	0.70561	0.460000	0.39030	GAT		0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		15	23	0	0	0	1	0	15	23				
TTYH2	94015	broad.mit.edu	37	17	72249349	72249349	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	ENST00000269346.4	+	12	1463	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000441391.2_Silent_p.Q142Q	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	463						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(424-426)caG>caA		tweety family member 2							66.0	68.0	68.0					17																	72249349		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249349G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1389G>A	17.37:g.72249349G>A						TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000269346.4_Silent_p.Q463Q	p.Q142Q	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			6	1638	+			463					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.426G>A	CCDS32717.1																																																																																				0.647	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			15	54	0	0	0	1	0	15	54				
NOL8	55035	broad.mit.edu	37	9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	ENST00000535387.1	-	6	1894	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R|NOL8_ENST00000545558.1_Missense_Mutation_p.H632R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1894-1896)cAt>cGt		nucleolar protein 8							74.0	65.0	68.0					9																	95077012		1919	4135	6054	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077012T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1895A>G	9.37:g.95077012T>C	ENSP00000441300:p.His632Arg					NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R	p.H632R			Q76FK4	NOL8_HUMAN			7	2387	-			632						Missense_Mutation	SNP	ENST00000535387.1	37	c.1895A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	0.414	-0.911749	0.02434	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.26	-0.569	0.11756	.	0.966660	0.08627	N	0.917649	T	0.22166	0.0534	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21280	-1.0250	10	0.09338	T	0.73	0.019	2.0323	0.03532	0.1228:0.3494:0.1804:0.3475	.	632	Q76FK4	NOL8_HUMAN	R	632;634;564;632;632;564;632	ENSP00000401177:H632R;ENSP00000351723:H564R;ENSP00000441140:H632R;ENSP00000441300:H632R;ENSP00000440709:H564R;ENSP00000414112:H632R	ENSP00000351723:H564R	H	-	2	0	NOL8	94116833	0.011000	0.17503	0.001000	0.08648	0.100000	0.18952	-0.014000	0.12656	-0.365000	0.08076	-0.372000	0.07161	CAT		0.453	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		5	10	0	0	0	1	0	5	10				
SETD2	29072	broad.mit.edu	37	3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	ENST00000409792.3	-	14	6221	c.6179C>G	c.(6178-6180)tCa>tGa	p.S2060*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2060					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6178-6180)tCa>tGa		SET domain containing 2							277.0	279.0	279.0					3																	47103767		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103767G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6179C>G	3.37:g.47103767G>C	ENSP00000386759:p.Ser2060*					SETD2_ENST00000492397.1_5'UTR	p.S2060*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6221	-		Acute lymphoblastic leukemia(5;0.0169)	2060					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6179C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.883648	0.99483	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.58	3.69	0.42338	.	0.825709	0.10143	N	0.710582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.0789	0.42377	0.0:0.1922:0.6766:0.1312	.	.	.	.	X	2060	.	ENSP00000386759:S2060X	S	-	2	0	SETD2	47078771	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	3.105000	0.50314	1.253000	0.44018	0.455000	0.32223	TCA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		6	128	0	0	0	1	0	6	128				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	27	0	0	0	1	0	3	27				
SERPING1	710	broad.mit.edu	37	11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	rs139035354		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	ENST00000278407.4	+	3	693	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SERPING1_ENST00000403558.1_Missense_Mutation_p.A190T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T|SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.001		0.0	False		,,,				2504	0.0					ENST00000403558.1																			1	Substitution - Missense(1)	p.A156T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27	GRCh37	CM083117	SERPING1	M	rs139035354	c.(568-570)Gcc>Acc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1		G	THR/ALA,THR/ALA	0,4402		0,0,2201	103.0	104.0	103.0		466,466	5.0	0.7	11	dbSNP_134	103	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	SERPING1	NM_000062.2,NM_001032295.1	58,58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/501,156/501	57367766	1,12993	2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367766G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.466G>A	11.37:g.57367766G>A	ENSP00000278407:p.Ala156Thr					SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T	p.A190T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	934	+			156					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.568G>A	CCDS7962.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.40	1.339923	0.24339	0.0	1.16E-4	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.93133	-3.17;-1.93;-1.93;-1.93;-1.93;-1.93	5.94	5.03	0.67393	Serpin domain (3);	0.635091	0.16981	N	0.191714	D	0.91274	0.7249	M	0.75264	2.295	0.33964	D	0.645938	P;P;P;P	0.45768	0.662;0.866;0.662;0.662	B;B;B;B	0.39299	0.173;0.296;0.173;0.173	D	0.91226	0.5010	10	0.17832	T	0.49	.	11.3668	0.49677	0.0833:0.0:0.9167:0.0	.	161;190;156;156	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	T	156;156;156;161;104;190	ENSP00000384561:A156T;ENSP00000278407:A156T;ENSP00000341861:A156T;ENSP00000367574:A161T;ENSP00000367575:A104T;ENSP00000384420:A190T	ENSP00000278407:A156T	A	+	1	0	SERPING1	57124342	0.707000	0.27866	0.710000	0.30468	0.398000	0.30690	1.380000	0.34351	1.531000	0.49152	0.561000	0.74099	GCC		0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		49	62	0	0	0	1	0	49	62				
DST	667	broad.mit.edu	37	6	56483529	56483529	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:56483529G>A	ENST00000370765.6	-	23	5410	c.5303C>T	c.(5302-5304)aCt>aTt	p.T1768I	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6505					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCATTTTCAGTGATGACTTT	0.358																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5302-5304)aCt>aTt		dystonin							104.0	104.0	104.0					6																	56483529		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483529G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5303C>T	6.37:g.56483529G>A	ENSP00000359801:p.Thr1768Ile					DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	p.T1768I	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5410	-	Lung NSC(77;0.103)		1162					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.5303C>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288498	0.59976	.	.	ENSG00000151914	ENST00000370765	T	0.30182	1.54	5.49	5.49	0.81192	.	.	.	.	.	T	0.33411	0.0862	.	.	.	0.09310	N	0.999999	D	0.55172	0.97	P	0.52957	0.714	T	0.00953	-1.1502	7	0.27082	T	0.32	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	1768	Q03001-3	.	I	1768	ENSP00000359801:T1768I	ENSP00000359801:T1768I	T	-	2	0	DST	56591488	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.064000	0.57506	2.731000	0.93534	0.650000	0.86243	ACT		0.358	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		17	49	0	0	0	1	0	17	49				
ANKAR	150709	broad.mit.edu	37	2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	ENST00000520309.1	+	12	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H|ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	830						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCCTGATAAATCTATTGAA	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2488-2490)Aat>Cat		ankyrin and armadillo repeat containing							96.0	107.0	103.0					2																	190585366		2203	4298	6501	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190585366A>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2488A>C	2.37:g.190585366A>C	ENSP00000427882:p.Asn830His					ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H	p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		12	2576	+			830					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2488A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309216	0.23821	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.54	4.54	0.55810	.	0.249386	0.31531	N	0.007481	T	0.17916	0.0430	N	0.11106	0.095	0.33309	D	0.565881	.	.	.	.	.	.	T	0.27054	-1.0085	8	0.21540	T	0.41	-14.0229	9.5905	0.39543	0.8237:0.1763:0.0:0.0	.	.	.	.	H	830;830;830;759;594	ENSP00000427882:N830H;ENSP00000313513:N830H;ENSP00000397243:N830H;ENSP00000393043:N759H;ENSP00000281412:N594H	ENSP00000281412:N594H	N	+	1	0	ANKAR	190293611	1.000000	0.71417	0.997000	0.53966	0.061000	0.15899	2.742000	0.47434	2.054000	0.61138	0.533000	0.62120	AAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		16	44	0	0	0	1	0	16	44				
EFTUD2	9343	broad.mit.edu	37	17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	ENST00000426333.2	-	22	2486	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	730					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2188-2190)cGt>cAt		elongation factor Tu GTP binding domain containing 2							89.0	85.0	86.0					17																	42931994		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42931994C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2189G>A	17.37:g.42931994C>T	ENSP00000392094:p.Arg730His					EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H	p.R730H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			22	2486	-		Prostate(33;0.109)	730					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2189G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754173	0.96890	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	H	0.96111	3.77	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.54238	0.746;0.746	T	0.77550	-0.2546	10	0.87932	D	0	-15.8139	18.8054	0.92035	0.0:1.0:0.0:0.0	.	720;730	B4DMC0;Q15029	.;U5S1_HUMAN	H	730;720;695	ENSP00000392094:R730H;ENSP00000385873:R695H	ENSP00000262414:R720H	R	-	2	0	EFTUD2	40287520	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CGT		0.567	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		17	29	0	0	0	1	0	17	29				
EVPL	2125	broad.mit.edu	37	17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	ENST00000301607.3	-	22	5858	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1869	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5605-5607)Gtg>Atg		envoplakin							86.0	86.0	86.0					17																	74003681		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003681C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5605G>A	17.37:g.74003681C>T	ENSP00000301607:p.Val1869Met					EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M	p.V1869M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5858	-			1869			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5605G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921732	0.52653	.	.	ENSG00000167880	ENST00000301607	T	0.76839	-1.05	5.48	4.51	0.55191	.	0.144301	0.47093	D	0.000252	D	0.85405	0.5689	M	0.75615	2.305	0.33755	D	0.621087	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.971	D	0.89225	0.3573	10	0.72032	D	0.01	-27.1809	8.7764	0.34765	0.0:0.7601:0.0:0.2399	.	1891;1869	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1869	ENSP00000301607:V1869M	ENSP00000301607:V1869M	V	-	1	0	EVPL	71515276	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	0.941000	0.29005	1.305000	0.44909	0.561000	0.74099	GTG		0.617	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	45	0	0	0	1	0	4	45				
SSPO	23145	broad.mit.edu	37	7	149482723	149482723	+	RNA	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	ENST00000378016.2	+	0	3139							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGTGGCCTATTCACAGT	0.627																																						ENST00000378016.2																			0													SCO-spondin							21.0	26.0	24.0					7																	149482723		2083	4200	6283			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482723C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482723C>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3139	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	13	0	0	0	1	0	4	13				
OR13D1	286365	broad.mit.edu	37	9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	ENST00000318763.5	+	1	159	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(115-117)tCt>tGt		olfactory receptor, family 13, subfamily D, member 1							72.0	70.0	71.0					9																	107456818		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456818C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.116C>G	9.37:g.107456818C>G	ENSP00000317357:p.Ser39Cys						p.S39C	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	159	+			39					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.116C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527213	0.64860	.	.	ENSG00000179055	ENST00000318763	T	0.54675	0.56	3.65	3.65	0.41850	.	0.295217	0.23732	N	0.045111	T	0.72938	0.3523	M	0.89478	3.035	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.67118	-0.5751	10	0.87932	D	0	.	13.0232	0.58800	0.0:1.0:0.0:0.0	.	39	Q8NGV5	O13D1_HUMAN	C	39	ENSP00000317357:S39C	ENSP00000317357:S39C	S	+	2	0	OR13D1	106496639	0.138000	0.22547	0.040000	0.18447	0.602000	0.36980	2.638000	0.46562	1.907000	0.55213	0.596000	0.82720	TCT		0.423	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			7	24	0	0	0	1	0	7	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	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			28	34	0	0	0	1	0	28	34				
HCCS	3052	broad.mit.edu	37	X	11135492	11135492	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	ENST00000321143.4	+	4	560	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	120					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(358-360)Tac>Cac		holocytochrome c synthase							145.0	140.0	142.0					X																	11135492		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11135492T>C		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.358T>C	X.37:g.11135492T>C	ENSP00000326579:p.Tyr120His					HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H	p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			4	560	+			120					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.358T>C	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308182	0.81247	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.92805	-3.11;-3.11;-3.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98231	1.0483	10	0.87932	D	0	-9.3396	12.7073	0.57067	0.0:0.0:0.0:1.0	.	120	P53701	CCHL_HUMAN	H	120	ENSP00000326579:Y120H;ENSP00000370140:Y120H;ENSP00000370139:Y120H	ENSP00000326579:Y120H	Y	+	1	0	HCCS	11045413	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	7.511000	0.81718	1.908000	0.55244	0.486000	0.48141	TAC		0.383	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			37	21	0	0	0	1	0	37	21				
C2orf16	84226	broad.mit.edu	37	2	27799838	27799838	+	Silent	SNP	A	A	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	ENST00000408964.2	+	1	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	133						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(397-399)gcA>gcT		chromosome 2 open reading frame 16							73.0	68.0	70.0					2																	27799838		1854	4106	5960	SO:0001819	synonymous_variant	84226							g.chr2:27799838A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.399A>T	2.37:g.27799838A>T							p.A133A	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	450	+	Acute lymphoblastic leukemia(172;0.155)		133					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.399A>T	CCDS42666.1																																																																																				0.383	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		4	74	0	0	0	1	0	4	74				
IQGAP1	8826	broad.mit.edu	37	15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	ENST00000268182.5	+	34	4397	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1425	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAGCCATGCAGAGACGTGC	0.398																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4273-4275)Cag>Tag		IQ motif containing GTPase activating protein 1							92.0	86.0	88.0					15																	91034589		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91034589C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4273C>T	15.37:g.91034589C>T	ENSP00000268182:p.Gln1425*					IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	p.Q1425*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		34	4397	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1425			C2.		A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.4273C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	40	8.048917	0.98627	.	.	ENSG00000140575	ENST00000268182	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-24.5881	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	1425	.	ENSP00000268182:Q1425X	Q	+	1	0	IQGAP1	88835593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.894000	0.99253	0.655000	0.94253	CAG		0.398	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	23	0	0	0	1	0	4	23				
SYNE2	23224	broad.mit.edu	37	14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	ENST00000344113.4	+	103	18895	c.18683A>G	c.(18682-18684)aAc>aGc	p.N6228S	SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N2613S|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6228					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTGGGACAACCTTCAGAGG	0.622																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7837-7839)aAc>aGc		spectrin repeat containing, nuclear envelope 2							40.0	38.0	38.0					14																	64676802		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676802A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18683A>G	14.37:g.64676802A>G	ENSP00000341781:p.Asn6228Ser					SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S	p.N2613S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	104	18982	+			6228					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7838A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178871	0.38511	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;1.37;0.8;0.8;0.8;1.37	5.51	-1.2	0.09554	.	0.385458	0.21256	N	0.077553	T	0.30727	0.0774	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B	0.20052	0.004;0.006;0.041;0.032;0.008	B;B;B;B;B	0.29440	0.021;0.023;0.011;0.102;0.009	T	0.03453	-1.1035	10	0.42905	T	0.14	.	5.23	0.15416	0.4533:0.266:0.2807:0.0	.	2613;616;6187;6228;6228	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	S	6228;2613;6228;6187;6193;2862;2613;106;11	ENSP00000350719:N6228S;ENSP00000349969:N2613S;ENSP00000341781:N6228S;ENSP00000452570:N6187S;ENSP00000450831:N2862S;ENSP00000378249:N2613S;ENSP00000451009:N106S;ENSP00000450605:N11S	ENSP00000261678:N6193S	N	+	2	0	SYNE2	63746555	0.677000	0.27577	0.985000	0.45067	0.955000	0.61496	0.597000	0.24059	-0.205000	0.10219	0.496000	0.49642	AAC		0.622	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	15	0	0	0	1	0	7	15				
TBC1D2	55357	broad.mit.edu	37	9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A	rs371031377		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	ENST00000375064.1	-	5	936	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R300W	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	300	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.001					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(898-900)Cgg>Tgg		TBC1 domain family, member 2		G	TRP/ARG	0,4406		0,0,2203	143.0	121.0	129.0		898	0.1	0.0	9		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBC1D2	NM_018421.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	300/918	100991314	1,13005	2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991314G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.898C>T	9.37:g.100991314G>A	ENSP00000364205:p.Arg300Trp					TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W	p.R300W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	989	-		Myeloproliferative disorder(762;0.0255)	300			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.898C>T		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377563	0.24944	0.0	1.16E-4	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14391	2.51;2.92;2.51	5.49	0.139	0.14798	.	0.425407	0.21930	N	0.067040	T	0.26810	0.0656	M	0.67953	2.075	0.30887	N	0.730823	D;D	0.89917	1.0;1.0	D;D	0.70935	0.936;0.971	T	0.11916	-1.0568	10	0.54805	T	0.06	.	5.7484	0.18132	0.2197:0.0:0.5487:0.2317	.	300;300	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	300;300;82	ENSP00000364205:R300W;ENSP00000364207:R300W;ENSP00000341567:R82W	ENSP00000341567:R82W	R	-	1	2	TBC1D2	100031135	0.003000	0.15002	0.000000	0.03702	0.181000	0.23173	0.216000	0.17585	-0.214000	0.10078	-1.814000	0.00607	CGG		0.522	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		11	34	0	0	0	1	0	11	34				
PTGS1	5742	broad.mit.edu	37	9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	ENST00000362012.2	+	11	1650	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	549					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCGAGCACATTTGGCGGCGA	0.537																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1645-1647)Ttt>Gtt		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						113.0	110.0	111.0					9																	125154668		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154668T>G	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1645T>G	9.37:g.125154668T>G	ENSP00000354612:p.Phe549Val					PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	p.F549V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1650	+			549					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1645T>G	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250036	0.80024	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.71563	-0.4555	10	0.87932	D	0	-17.3479	14.6441	0.68748	0.0:0.0:0.0:1.0	.	487;549;512	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	V	487;549;512;440	ENSP00000437709:F487V;ENSP00000354612:F549V;ENSP00000223423:F512V;ENSP00000362802:F440V	ENSP00000223423:F512V	F	+	1	0	PTGS1	124194489	1.000000	0.71417	0.986000	0.45419	0.452000	0.32318	8.036000	0.88901	2.055000	0.61198	0.533000	0.62120	TTT		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			20	53	0	0	0	1	0	20	53				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	22	0	0	0	1	0	3	22				
POM121C	100101267	broad.mit.edu	37	7	75045031	75045031	+	IGR	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:75045031C>T	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGCTGGATCCTTCCTGCAGT	0.587																																						ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75045031C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045031C>T														0	3842	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.587	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		5	19	0	0	0	1	0	5	19				
ALG6	29929	broad.mit.edu	37	1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	ENST00000371108.4	+	8	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	179					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(535-537)cTt>cCt		ALG6, alpha-1,3-glucosyltransferase							226.0	223.0	224.0					1																	63876858		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63876858T>C	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.536T>C	1.37:g.63876858T>C	ENSP00000360149:p.Leu179Pro					ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	p.L179P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			8	841	+			179					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.536T>C	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857840	0.71834	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.84070	-1.8;-1.8	5.46	4.31	0.51392	.	0.122635	0.56097	D	0.000034	D	0.83760	0.5324	M	0.68952	2.095	0.80722	D	1	D	0.57571	0.98	P	0.60236	0.871	T	0.83148	-0.0105	10	0.37606	T	0.19	-15.5994	12.8893	0.58061	0.0:0.0:0.1359:0.8641	.	181	A2A2G4	.	P	179;181	ENSP00000360149:L179P;ENSP00000263440:L181P	ENSP00000263440:L181P	L	+	2	0	ALG6	63649446	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.501000	0.81600	1.001000	0.39076	0.482000	0.46254	CTT		0.363	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		40	109	0	0	0	1	0	40	109				
SEC1P	653677	broad.mit.edu	37	19	49183610	49183610	+	RNA	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:49183610G>A	ENST00000430145.2	+	0	697					NR_004401.2				secretory blood group 1, pseudogene																		TGCCGGTGCTGCACAGCGCCA	0.667																																						ENST00000430145.2																			0																																																			0							g.chr19:49183610G>A			19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183610G>A								NR_004401.2						0	697	+									RNA	SNP	ENST00000430145.2	37																																																																																						0.667	SEC1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000336334.1	NR_004401		15	18	0	0	0	1	0	15	18				
LY6G6D	58530	broad.mit.edu	37	6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	ENST00000375825.3	+	3	220	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|MEGT1_ENST00000503322.1_Missense_Mutation_p.A323T	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D	74	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGCGTCGCAGCCCATCATTG	0.577																																						ENST00000503322.1																			0											c.(967-969)Gcc>Acc									202.0	202.0	202.0					6																	31685399		2203	4300	6503	SO:0001583	missense	0							g.chr6:31685399G>A		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370	ENST00000375825.3:c.220G>A	6.37:g.31685399G>A	ENSP00000364985:p.Ala74Thr					LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T	p.A323T							6	970	+								A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Missense_Mutation	SNP	ENST00000375825.3	37	c.967G>A	CCDS34404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.79|12.79	2.043099|2.043099	0.36085|0.36085	.|.	.|.	ENSG00000204424;ENSG00000250641;ENSG00000244355|ENSG00000244355	ENST00000556581;ENST00000503322;ENST00000375825|ENST00000375824	T;T;T|T	0.69435|0.36878	2.6;2.6;-0.4|1.23	5.54|5.54	2.52|2.52	0.30459|0.30459	.|.	0.703054|.	0.11759|.	N|.	0.532254|.	T|T	0.09512|0.09512	0.0234|0.0234	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B|.	0.25563|.	0.129;0.02|.	B;B|.	0.23419|.	0.046;0.007|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|7	0.23302|0.17832	T|T	0.38|0.49	.|.	3.5527|3.5527	0.07853|0.07853	0.2106:0.0:0.583:0.2064|0.2106:0.0:0.583:0.2064	.|.	74;323|.	O95868;Q9NZJ1|.	LY66D_HUMAN;.|.	T|N	323;323;74|114	ENSP00000452432:A323T;ENSP00000421232:A323T;ENSP00000364985:A74T|ENSP00000364984:S114N	ENSP00000364985:A74T|ENSP00000364984:S114N	A|S	+|+	1|2	0|0	LY6G6D;XXbac-BPG32J3.19;LY6G6F|LY6G6D	31793378|31793378	0.001000|0.001000	0.12720|0.12720	0.045000|0.045000	0.18777|0.18777	0.992000|0.992000	0.81027|0.81027	0.846000|0.846000	0.27682|0.27682	0.184000|0.184000	0.20083|0.20083	0.645000|0.645000	0.84053|0.84053	GCC|AGC		0.577	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2			74	141	0	0	0	1	0	74	141				
DLGAP4	22839	broad.mit.edu	37	20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	ENST00000373907.2	+	2	1040	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_ENST00000373913.3_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	281					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(841-843)Ggg>Tgg		discs, large (Drosophila) homolog-associated protein 4							12.0	14.0	13.0					20																	35060961		2177	4269	6446	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060961G>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.841G>T	20.37:g.35060961G>T	ENSP00000363014:p.Gly281Trp					DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W	p.G281W			Q9Y2H0	DLGP4_HUMAN			3	1321	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	281					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	G	16.29	3.082324	0.55861	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.12	4.12	0.48240	.	0.643152	0.16717	N	0.202402	T	0.28134	0.0694	L	0.46157	1.445	0.30479	N	0.772583	D	0.63880	0.993	P	0.61275	0.886	T	0.06058	-1.0848	10	0.87932	D	0	.	8.0094	0.30344	0.1072:0.0:0.8928:0.0	.	281	Q9Y2H0-1	.	W	281	ENSP00000363023:G281W;ENSP00000384954:G281W;ENSP00000363014:G281W;ENSP00000341633:G281W	ENSP00000341633:G281W	G	+	1	0	DLGAP4	34494375	0.976000	0.34144	1.000000	0.80357	0.981000	0.71138	1.319000	0.33655	2.595000	0.87683	0.561000	0.74099	GGG		0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		11	7	1	0	0.00010058	1	0.000102514	11	7				
AKAP13	11214	broad.mit.edu	37	15	86287025	86287025	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	ENST00000394518.2	+	36	8456	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_ENST00000394510.2_Silent_p.K1032K|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2787	Interaction with ESR1.|Poly-Lys.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAAAAAAAGAAGAACAAAA	0.532																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8359-8361)aaG>aaA		A kinase (PRKA) anchor protein 13							36.0	40.0	39.0					15																	86287025		2199	4288	6487	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287025G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8361G>A	15.37:g.86287025G>A						AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000394510.2_Silent_p.K1032K	p.K2787K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8456	+			2787			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8361G>A	CCDS32319.1																																																																																				0.532	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	27	0	0	0	1	0	5	27				
CD36	948	broad.mit.edu	37	7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A	rs374729345		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(265-267)Ggt>Agt		CD36 molecule (thrombospondin receptor)		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	93.0	86.0	88.0		265,265,265,265,265	4.7	1.0	7		88	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	56,56,56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	89/473,89/473,89/473,89/473,89/473	80286000	1,13005	2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80286000G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.265G>A	7.37:g.80286000G>A	ENSP00000399421:p.Gly89Ser					CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S	p.G89S			P16671	CD36_HUMAN			7	949	+			89					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.265G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448082	0.84101	2.27E-4	0.0	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	9	.	.	.	-20.8563	13.6569	0.62344	0.076:0.0:0.924:0.0	.	89	P16671	CD36_HUMAN	S	89;89;13;89;89;89;89;89;89;89;89;89;89;89;89	ENSP00000399421:G89S;ENSP00000308165:G89S;ENSP00000431296:G13S;ENSP00000410371:G89S;ENSP00000398760:G89S;ENSP00000409762:G89S;ENSP00000378268:G89S;ENSP00000415743:G89S;ENSP00000416388:G89S;ENSP00000411411:G89S;ENSP00000407690:G89S;ENSP00000392298:G89S;ENSP00000439543:G89S;ENSP00000441956:G89S;ENSP00000401863:G89S	.	G	+	1	0	CD36	80123936	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.652000	0.74377	1.469000	0.48083	0.655000	0.94253	GGT		0.398	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		3	70	0	0	0	1	0	3	70				
MS4A14	84689	broad.mit.edu	37	11	60183353	60183353	+	Silent	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	ENST00000300187.6	+	5	1189	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Silent_p.F287F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	304						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCCAAGTTTTTCCATCCCATT	0.423																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(910-912)ttT>ttC		membrane-spanning 4-domains, subfamily A, member 14							71.0	67.0	68.0					11																	60183353		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183353T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.912T>C	11.37:g.60183353T>C						MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR	p.F304F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1189	+			304					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.912T>C	CCDS31569.1																																																																																				0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			23	26	0	0	0	1	0	23	26				
DCLK1	9201	broad.mit.edu	37	13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	ENST00000360631.3	-	3	693	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	DCLK1_ENST00000255448.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(481-483)cGg>cAg		doublecortin-like kinase 1							82.0	82.0	82.0					13																	36686247		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686247C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.482G>A	13.37:g.36686247C>T	ENSP00000353846:p.Arg161Gln					DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q	p.R161Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	693	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	161					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.482G>A		.	.	.	.	.	.	.	.	.	.	C	18.78	3.697239	0.68386	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.69685	-0.42;-0.41;1.67	5.65	4.81	0.61882	.	0.124968	0.53938	D	0.000045	T	0.65544	0.2701	L	0.61218	1.895	0.58432	D	0.999999	P	0.49783	0.928	B	0.42087	0.375	T	0.70044	-0.4980	10	0.52906	T	0.07	.	14.9028	0.70692	0.0:0.9312:0.0:0.0688	.	161	O15075-2	.	Q	161	ENSP00000255448:R161Q;ENSP00000353846:R161Q;ENSP00000369222:R161Q	ENSP00000255448:R161Q	R	-	2	0	DCLK1	35584247	1.000000	0.71417	0.868000	0.34077	0.609000	0.37215	3.542000	0.53625	1.536000	0.49237	0.650000	0.86243	CGG		0.522	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		13	36	0	0	0	1	0	13	36				
TMTC1	83857	broad.mit.edu	37	12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	ENST00000539277.1	-	18	2661	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000256062.5_Missense_Mutation_p.R760H	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2278-2280)cGc>cAc		transmembrane and tetratricopeptide repeat containing 1							264.0	257.0	260.0					12																	29659825		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659825C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2603G>A	12.37:g.29659825C>T	ENSP00000442046:p.Arg868His					TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000319685.8_5'UTR	p.R760H	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2752	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		868					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2279G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318663	0.95682	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69306	-0.39;-0.19;-0.39;-0.27	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.85292	0.1068	10	0.51188	T	0.08	-14.4245	17.4952	0.87715	0.0:1.0:0.0:0.0	rs35279918	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	H	631;760;930;892;868	ENSP00000256062:R760H;ENSP00000448112:R930H;ENSP00000449043:R892H;ENSP00000442046:R868H	ENSP00000256062:R760H	R	-	2	0	TMTC1	29551092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.966000	0.63715	2.463000	0.83235	0.650000	0.86243	CGC		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		25	59	0	0	0	1	0	25	59				
MYCBP2	23077	broad.mit.edu	37	13	77807397	77807397	+	Splice_Site	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	ENST00000544440.2	-	18	2534	c.2517C>G	c.(2515-2517)ggC>ggG	p.G839G	MYCBP2_ENST00000357337.6_Splice_Site_p.G839G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Splice_Site_p.G877G					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACAAGGGGGCCTGAGGAGA	0.363																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e18-1		MYC binding protein 2, E3 ubiquitin protein ligase							96.0	95.0	96.0					13																	77807397		2203	4300	6503	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77807397G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2516-1C>G	13.37:g.77807397G>C						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.G839_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.G839_splice	p.G877_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	18	2897	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	839						Splice_Site	SNP	ENST00000544440.2	37	c.2629_splice																																																																																					0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Silent	3	31	0	0	0	1	0	3	31				
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T	rs377402243		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323																																						ENST00000305815.5																			1	Substitution - Missense(1)	p.R1064Q(1)	skin(1)								c.(3190-3192)cGa>cAa		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1		C	GLN/ARG	0,4404		0,0,2202	125.0	131.0	129.0		3191	0.7	0.1	3		129	2,8596	2.2+/-6.3	0,2,4297	no	missense	SLC9A10	NM_183061.1	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1064/1178	111887770	2,13000	2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887770C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3191G>A	3.37:g.111887770C>T	ENSP00000306627:p.Arg1064Gln					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	p.R1064Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			25	3443	-			1064					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3191G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731570	0.15507	0.0	2.33E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78246	-1.16;-1.16	6.06	0.733	0.18289	.	0.677608	0.13656	N	0.371958	T	0.61048	0.2316	L	0.31926	0.97	0.24446	N	0.994508	P;P	0.45176	0.608;0.852	B;B	0.34301	0.179;0.032	T	0.51268	-0.8727	10	0.46703	T	0.11	0.5387	9.0873	0.36590	0.0:0.5854:0.0:0.4146	.	1016;1064	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	1064;1016	ENSP00000306627:R1064Q;ENSP00000420688:R1016Q	ENSP00000306627:R1064Q	R	-	2	0	SLC9A10	113370460	0.376000	0.25098	0.116000	0.21606	0.014000	0.08584	0.358000	0.20216	0.168000	0.19655	-0.808000	0.03180	CGA		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		19	48	0	0	0	1	0	19	48				
ISM2	145501	broad.mit.edu	37	14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A	rs369577194		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	ENST00000342219.4	-	7	1471	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000393684.3_Missense_Mutation_p.A384V|ISM2_ENST00000493585.1_3'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	472	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1150-1152)gCg>gTg		isthmin 2		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30.0	33.0	32.0		,1415	4.8	1.0	14		32	0,8598		0,0,4299	no	utr-3,missense	ISM2	NM_182509.3,NM_199296.2	,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,472/572	77942239	1,13003	2203	4299	6502	SO:0001583	missense	145501					extracellular region		g.chr14:77942239G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1415C>T	14.37:g.77942239G>A	ENSP00000341490:p.Ala472Val					ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.A472V	p.A384V			Q6H9L7	ISM2_HUMAN			8	1542	-			472					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1151C>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119699	0.77323	2.27E-4	0.0	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.42513	0.97;1.04;1.04;1.36	4.85	4.85	0.62838	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76291	-0.3013	10	0.87932	D	0	-4.9475	17.9717	0.89115	0.0:0.0:1.0:0.0	.	391;472	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	V	472;391;391;384	ENSP00000341490:A472V;ENSP00000416773:A391V;ENSP00000395387:A391V;ENSP00000377289:A384V	ENSP00000341490:A472V	A	-	2	0	ISM2	77011992	1.000000	0.71417	0.987000	0.45799	0.175000	0.22909	9.477000	0.97925	2.247000	0.74100	0.462000	0.41574	GCG		0.677	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		7	22	0	0	0	1	0	7	22				
MUSK	4593	broad.mit.edu	37	9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	ENST00000374448.4	+	15	2258	c.2124G>C	c.(2122-2124)caG>caC	p.Q708H	MUSK_ENST00000416899.2_Missense_Mutation_p.Q700H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCAGGCAGGTGGCAGCTG	0.567																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2098-2100)caG>caC		muscle, skeletal, receptor tyrosine kinase							114.0	118.0	117.0					9																	113562782		2021	4164	6185	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562782G>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2124G>C	9.37:g.113562782G>C	ENSP00000363571:p.Gln708His					MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H	p.Q700H			O15146	MUSK_HUMAN			13	2226	+			708			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2100G>C	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459096	0.43634	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.57436	0.4	5.45	3.58	0.41010	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76146	-0.3066	10	0.87932	D	0	.	11.9391	0.52890	0.2075:0.0:0.7925:0.0	.	708	O15146	MUSK_HUMAN	H	714;708;708;622;622;706	ENSP00000363571:Q708H	ENSP00000189978:Q714H	Q	+	3	2	MUSK	112602603	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.965000	0.49200	0.348000	0.23949	-0.813000	0.03139	CAG		0.567	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				28	94	0	0	0	1	0	28	94				
LRP2	4036	broad.mit.edu	37	2	170038748	170038748	+	Silent	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	ENST00000263816.3	-	51	10212	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3309					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCACACAGTGCTGGGCCAGCA	0.532																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9925-9927)caG>caA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						167.0	154.0	158.0					2																	170038748		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038748C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9927G>A	2.37:g.170038748C>T						LRP2_ENST00000461418.1_5'UTR	p.Q3309Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10212	-			3309					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9927G>A	CCDS2232.1																																																																																				0.532	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		31	69	0	0	0	1	0	31	69				
KIF13B	23303	broad.mit.edu	37	8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	ENST00000524189.1	-	7	540	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	168	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACGTCTGACGGCTTCTGTTC	0.373																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(502-504)Cgt>Tgt		kinesin family member 13B							111.0	102.0	105.0					8																	29039519		1843	4092	5935	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29039519G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.502C>T	8.37:g.29039519G>A	ENSP00000427900:p.Arg168Cys					KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	7	540	-		Ovarian(32;0.000536)	168			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.502C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886102	0.72410	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.76186	-1.0;-1.0	5.42	5.42	0.78866	Kinesin, motor domain (4);	0.178036	0.50627	D	0.000115	D	0.85470	0.5704	M	0.71920	2.185	0.80722	D	1	D;D;B	0.89917	0.997;1.0;0.427	P;D;B	0.65874	0.761;0.939;0.145	D	0.86337	0.1702	10	0.87932	D	0	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	154;168;168	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	C	168	ENSP00000427900:R168C;ENSP00000429201:R168C	ENSP00000429201:R168C	R	-	1	0	KIF13B	29095438	1.000000	0.71417	0.986000	0.45419	0.916000	0.54674	2.208000	0.42797	2.817000	0.96982	0.563000	0.77884	CGT		0.373	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			3	39	0	0	0	1	0	3	39				
EEF1A1	1915	broad.mit.edu	37	6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	ENST00000316292.9	-	1	1073	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	28	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTTATAGATCAGATGGCCA	0.413																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(82-84)Atc>Gtc		eukaryotic translation elongation factor 1 alpha 1							78.0	81.0	80.0					6																	74229668		2203	4297	6500	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229668T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.82A>G	6.37:g.74229668T>C	ENSP00000339063:p.Ile28Val					EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V	p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1073	-			28					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.82A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397269	0.42512	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.60625	0.2283	M	0.77616	2.38	0.80722	D	1	B;B;B;B;B	0.19073	0.001;0.012;0.033;0.012;0.033	B;B;B;B;B	0.32090	0.007;0.057;0.14;0.057;0.14	T	0.68949	-0.5274	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	28;28;28;28;28	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	V	28	ENSP00000339063:I28V;ENSP00000339053:I28V;ENSP00000330054:I28V;ENSP00000348651:I28V;ENSP00000392366:I28V	ENSP00000339053:I28V	I	-	1	0	EEF1A1	74286389	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.715000	0.84713	1.874000	0.54306	0.454000	0.30748	ATC		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		13	36	0	0	0	1	0	13	36				
CCDC54	84692	broad.mit.edu	37	3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	ENST00000261058.1	+	1	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(667-669)Cgt>Tgt		coiled-coil domain containing 54							75.0	78.0	77.0					3																	107097101		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107097101C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.667C>T	3.37:g.107097101C>T	ENSP00000261058:p.Arg223Cys						p.R223C	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	914	+			223					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.667C>T	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283486	0.10458	.	.	ENSG00000138483	ENST00000261058	T	0.48201	0.82	5.09	1.05	0.20165	.	1.691010	0.03213	N	0.176393	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	B	0.41723	0.365	T	0.22243	-1.0222	10	0.54805	T	0.06	1.6117	5.2927	0.15735	0.5454:0.3591:0.0955:0.0	.	223	Q8NEL0	CCD54_HUMAN	C	223	ENSP00000261058:R223C	ENSP00000261058:R223C	R	+	1	0	CCDC54	108579791	0.664000	0.27457	0.028000	0.17463	0.228000	0.25075	1.126000	0.31344	0.273000	0.22049	-1.443000	0.01068	CGT		0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		27	36	0	0	0	1	0	27	36				
CHORDC1	26973	broad.mit.edu	37	11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	ENST00000320585.6	-	4	704	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	99	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393																																						ENST00000320585.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(295-297)Gcc>Acc		cysteine and histidine-rich domain (CHORD) containing 1							166.0	163.0	164.0					11																	89947220		2201	4298	6499	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89947220C>T	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.295G>A	11.37:g.89947220C>T	ENSP00000319255:p.Ala99Thr					CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T	p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN			4	704	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	99			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.295G>A	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651877	0.67472	.	.	ENSG00000110172	ENST00000320585;ENST00000457199;ENST00000530765	T;T	0.45668	0.89;0.91	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.66939	2.045	0.80722	D	1	P;P	0.45531	0.86;0.613	P;B	0.47915	0.561;0.358	T	0.50642	-0.8804	9	.	.	.	-9.8053	19.5269	0.95210	0.0:1.0:0.0:0.0	.	80;99	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	T	99;80;99	ENSP00000319255:A99T;ENSP00000401080:A80T	.	A	-	1	0	CHORDC1	89586868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.204000	0.77872	2.611000	0.88343	0.552000	0.68991	GCC		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		5	104	0	0	0	1	0	5	104				
C3	718	broad.mit.edu	37	19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	ENST00000245907.6	-	10	1170	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	360					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TACTTGGGTGTCTTGGTGAAG	0.622																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1078-1080)Aca>Gca		complement component 3							258.0	230.0	239.0					19																	6712560		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6712560T>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1078A>G	19.37:g.6712560T>C	ENSP00000245907:p.Thr360Ala						p.T360A	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	10	1170	-			360					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1078A>G	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.982016	0.53827	.	.	ENSG00000125730	ENST00000245907	T	0.38722	1.12	5.13	5.13	0.70059	.	0.046505	0.85682	D	0.000000	T	0.55893	0.1949	M	0.90814	3.15	0.37248	D	0.906442	P	0.47545	0.897	P	0.47941	0.562	T	0.68157	-0.5483	10	0.48119	T	0.1	.	9.3602	0.38190	0.1598:0.0:0.0:0.8402	.	360	P01024	CO3_HUMAN	A	360	ENSP00000245907:T360A	ENSP00000245907:T360A	T	-	1	0	C3	6663560	1.000000	0.71417	0.994000	0.49952	0.796000	0.44982	4.390000	0.59646	1.937000	0.56155	0.459000	0.35465	ACA		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		13	171	0	0	0	1	0	13	171				
KLHL28	54813	broad.mit.edu	37	14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	ENST00000396128.4	-	2	173	c.54delT	c.(52-54)tctfs	p.S18fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(52-54)tcfs		kelch-like family member 28							95.0	86.0	89.0					14																	45415078		2203	4300	6503	SO:0001589	frameshift_variant	54813							g.chr14:45415078delA	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.54delT	14.37:g.45415078delA	ENSP00000379434:p.Ser18fs					KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	p.S18fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			2	173	-			18					Q0VAL5	Frame_Shift_Del	DEL	ENST00000396128.4	37	c.54delT	CCDS9680.1																																																																																				0.403	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			21	60						21	60	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	ENST00000300896.4	-	3	471_472	c.277_278delGA	c.(277-279)gaafs	p.E94fs	USP32_ENST00000586881.1_5'UTR|USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	94	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCTTTCTCTTCATCTTTGCCT	0.332																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(277-279)afs		ubiquitin specific peptidase 32																																				SO:0001589	frameshift_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58378974_58378975delTC	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.277_278delGA	17.37:g.58378974_58378975delTC	ENSP00000300896:p.Glu94fs					USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs|USP32_ENST00000586881.1_5'UTR	p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		3	471_472	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		94			EF-hand 1.		Q7Z5T3|Q9BX85|Q9Y591	Frame_Shift_Del	DEL	ENST00000300896.4	37	c.277_278delGA	CCDS32697.1																																																																																				0.332	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		8	22						8	22	---	---	---	---
LOC284798	284798	broad.mit.edu	37	20	25128040	25128040	+	lincRNA	DEL	C	C	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:25128040delC	ENST00000454676.1	-	0	834					NR_027091.1|NR_027092.1|NR_027093.1																						tgcacccagtcctacccatcg	0.547																																						ENST00000454676.1																			0																																																			0							g.chr20:25128040delC																													20.37:g.25128040delC								NR_027091.1|NR_027092.1|NR_027093.1						0	834	-									RNA	DEL	ENST00000454676.1	37																																																																																						0.547	RP4-738P15.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078391.1			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	4						4	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---
