#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
VDAC2	7417	broad.mit.edu	37	10	76980618	76980618	+	Silent	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	ENST00000332211.6	+	7	687	c.474G>A	c.(472-474)gaG>gaA	p.E158E	VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000535553.1_Silent_p.E119E|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Silent_p.E173E	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	158					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468																																						ENST00000535553.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10						c.(355-357)gaG>gaA		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						83.0	82.0	82.0					10																	76980618		2202	4281	6483	SO:0001819	synonymous_variant	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76980618G>A	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.474G>A	10.37:g.76980618G>A						VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000313132.4_Silent_p.E173E|VDAC2_ENST00000332211.6_Silent_p.E158E	p.E119E			P45880	VDAC2_HUMAN			8	713	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		158					Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Silent	SNP	ENST00000332211.6	37	c.357G>A	CCDS7348.1																																																																																				0.468	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		12	44	0	0	0	1	0	12	44				
MYL10	93408	broad.mit.edu	37	7	101267513	101267513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	ENST00000223167.4	-	2	287	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	37						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(109-111)gGc>gAc		myosin, light chain 10, regulatory							125.0	121.0	123.0					7																	101267513		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101267513C>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.110G>A	7.37:g.101267513C>T	ENSP00000223167:p.Gly37Asp						p.G37D	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			2	287	-			37						Missense_Mutation	SNP	ENST00000223167.4	37	c.110G>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388619	0.42308	.	.	ENSG00000106436	ENST00000223167	T	0.73469	-0.75	4.85	4.85	0.62838	.	0.174679	0.36778	N	0.002404	T	0.75997	0.3926	L	0.28400	0.85	0.41446	D	0.98795	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.25106	T	0.35	.	10.5557	0.45117	0.0:0.9099:0.0:0.0901	.	37	Q9BUA6	MYL10_HUMAN	D	37	ENSP00000223167:G37D	ENSP00000223167:G37D	G	-	2	0	MYL10	101054233	0.986000	0.35501	0.862000	0.33874	0.145000	0.21501	2.244000	0.43124	2.409000	0.81822	0.655000	0.94253	GGC		0.587	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		21	64	0	0	0	1	0	21	64				
GIPR	2696	broad.mit.edu	37	19	46180213	46180213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	ENST00000590918.1	+	8	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	214					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTAGGCCCTCGCTGCCTGCCG	0.662																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(640-642)Gct>Act		gastric inhibitory polypeptide receptor							52.0	49.0	50.0					19																	46180213		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46180213G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.640G>A	19.37:g.46180213G>A	ENSP00000467494:p.Ala214Thr					GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	p.A214T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	8	739	+		Ovarian(192;0.051)|all_neural(266;0.112)	214					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.640G>A	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327179	0.60743	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.58060	0.36;1.15	4.55	4.55	0.56014	GPCR, family 2-like (1);	0.128952	0.35378	N	0.003245	T	0.41604	0.1166	L	0.35487	1.065	0.23411	N	0.997733	B;P;B	0.50528	0.378;0.936;0.194	B;B;B	0.41374	0.039;0.355;0.039	T	0.35871	-0.9771	10	0.28530	T	0.3	.	14.8431	0.70240	0.0:0.0:1.0:0.0	.	178;214;214	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	T	214;178	ENSP00000263281:A214T;ENSP00000305321:A178T	ENSP00000263281:A214T	A	+	1	0	GIPR	50872053	0.125000	0.22332	0.884000	0.34674	0.941000	0.58515	2.639000	0.46570	2.336000	0.79503	0.561000	0.74099	GCT		0.662	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			3	62	0	0	0	1	0	3	62				
C3orf35	339883	broad.mit.edu	37	3	37458938	37458938	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	ENST00000328376.5	+	5	1160	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	61						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463																																						ENST00000328376.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(181-183)Agt>Ggt		chromosome 3 open reading frame 35							117.0	113.0	114.0					3																	37458938		1902	4110	6012	SO:0001583	missense	339883					integral to membrane		g.chr3:37458938A>G	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.181A>G	3.37:g.37458938A>G	ENSP00000331625:p.Ser61Gly					C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G	p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN			5	1160	+			61					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.181A>G	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089165	0.20390	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.54071	0.59	3.32	2.13	0.27403	.	.	.	.	.	T	0.27798	0.0684	N	0.08118	0	0.19575	N	0.999963	B;P	0.45474	0.386;0.859	B;B	0.38755	0.086;0.281	T	0.07578	-1.0765	9	0.52906	T	0.07	.	5.4976	0.16811	0.7055:0.0:0.0:0.2945	.	61;61	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	G	61	ENSP00000331625:S61G	ENSP00000331625:S61G	S	+	1	0	C3orf35	37433942	0.001000	0.12720	0.625000	0.29200	0.917000	0.54804	-0.141000	0.10327	0.627000	0.30340	0.460000	0.39030	AGT		0.463	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		26	77	0	0	0	1	0	26	77				
RNF144A	9781	broad.mit.edu	37	2	7164513	7164513	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	ENST00000320892.6	+	7	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	175					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCTTTCAAAATGGAAGAAGA	0.567																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(523-525)Atg>Gtg		ring finger protein 144A							78.0	73.0	75.0					2																	7164513		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7164513A>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.523A>G	2.37:g.7164513A>G	ENSP00000321330:p.Met175Val					RNF144A_ENST00000467276.1_3'UTR	p.M175V	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	7	965	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	175					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.523A>G	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	A	8.581	0.882374	0.17467	.	.	ENSG00000151692	ENST00000320892;ENST00000427092	T	0.62105	0.05	5.87	0.397	0.16314	Zinc finger, C6HC-type (1);	0.700705	0.15567	N	0.255623	T	0.37758	0.1015	N	0.12471	0.22	0.22819	N	0.998696	B	0.02656	0.0	B	0.04013	0.001	T	0.19095	-1.0316	10	0.13108	T	0.6	.	10.3336	0.43837	0.7343:0.1869:0.0788:0.0	.	175	P50876	R144A_HUMAN	V	175	ENSP00000321330:M175V	ENSP00000321330:M175V	M	+	1	0	RNF144A	7081964	1.000000	0.71417	0.321000	0.25320	0.865000	0.49528	1.374000	0.34283	-0.170000	0.10816	0.533000	0.62120	ATG		0.567	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		20	65	0	0	0	1	0	20	65				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	81	0	0	0	1	0	6	81				
ACAA1	30	broad.mit.edu	37	3	38180395	38180395	+	5'Flank	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:38180395G>A	ENST00000333167.8	-	0	0				ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A|ACAA1_ENST00000544624.1_5'Flank|MYD88_ENST00000417037.2_Silent_p.A81A|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000396334.3_Silent_p.A81A|MYD88_ENST00000443433.2_Silent_p.A81A|ACAA1_ENST00000444607.2_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGACACAAGCGGACCCCACTG	0.657																																						ENST00000417037.2										Mis							ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(241-243)gcG>gcA		myeloid differentiation primary response 88							49.0	58.0	55.0					3																	38180395		2203	4300	6503	SO:0001631	upstream_gene_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38180395G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180395G>A	Exception_encountered					MYD88_ENST00000443433.2_Silent_p.A81A|MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000396334.3_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A	p.A81A	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	427	+			68			Death.		G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.243G>A	CCDS2673.1																																																																																				0.657	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		3	92	0	0	0	1	0	3	92				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	45	0	0	0	1	0	5	45				
TMEM14E	645843	broad.mit.edu	37	3	152058574	152058574	+	Silent	SNP	A	A	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	ENST00000408960.3	-	1	205	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000463374.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	40						integral component of membrane (GO:0016021)				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488																																						ENST00000408960.3																			0				lung(1)	1						c.(118-120)tcT>tcC		transmembrane protein 14E							87.0	79.0	82.0					3																	152058574		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058574A>G		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.120T>C	3.37:g.152058574A>G						MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron	p.S40S	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN			1	205	-			40						Silent	SNP	ENST00000408960.3	37	c.120T>C	CCDS43161.1																																																																																				0.488	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		21	79	0	0	0	1	0	21	79				
HAUS4	54930	broad.mit.edu	37	14	23416936	23416936	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	ENST00000206474.7	-	8	965	c.713T>G	c.(712-714)cTt>cGt	p.L238R	RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	238					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(712-714)cTt>cGt		HAUS augmin-like complex, subunit 4							77.0	79.0	78.0					14																	23416936		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23416936A>C	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.713T>G	14.37:g.23416936A>C	ENSP00000206474:p.Leu238Arg					HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A	p.L238R			Q9H6D7	HAUS4_HUMAN			8	965	-			238					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.713T>G	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085637	0.76642	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.78142	-0.2319	9	0.87932	D	0	-6.8347	12.4076	0.55449	1.0:0.0:0.0:0.0	.	193;112;238	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	R	238;114;238;193;112;112;193;193;238;15	.	ENSP00000206474:L238R	L	-	2	0	RP11-298I3.5;HAUS4	22486776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.237000	0.65360	1.919000	0.55581	0.477000	0.44152	CTT		0.507	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			27	85	0	0	0	1	0	27	85				
ANO3	63982	broad.mit.edu	37	11	26663556	26663556	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	ENST00000256737.3	+	22	3107	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T|ANO3_ENST00000531568.1_Missense_Mutation_p.M606T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	752					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2254-2256)aTg>aCg		anoctamin 3							111.0	104.0	107.0					11																	26663556		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26663556T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2255T>C	11.37:g.26663556T>C	ENSP00000256737:p.Met752Thr					ANO3_ENST00000531568.1_Missense_Mutation_p.M606T|ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T	p.M752T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			22	3107	+			752					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2255T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966620	0.53507	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.07	6.07	0.98685	.	0.079633	0.85682	D	0.000000	T	0.48696	0.1514	N	0.08118	0	0.53688	D	0.999976	B;B	0.33345	0.27;0.409	B;B	0.38755	0.281;0.281	T	0.52749	-0.8534	10	0.40728	T	0.16	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	654;752	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	736;736;752;654;606	ENSP00000440737:M736T;ENSP00000432576:M736T;ENSP00000256737:M752T;ENSP00000432394:M606T	ENSP00000256737:M752T	M	+	2	0	ANO3	26620132	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.948000	0.87774	2.326000	0.78906	0.533000	0.62120	ATG		0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		4	105	0	0	0	1	0	4	105				
RBBP8	5932	broad.mit.edu	37	18	20602227	20602227	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	ENST00000399722.2	+	18	2941	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K|RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.W831*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	864					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACTTGTATGGAAAGAGGTGA	0.418								Homologous recombination																														ENST00000399725.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2491-2493)tgG>tgA	Homologous recombination	retinoblastoma binding protein 8							100.0	101.0	101.0					18																	20602227		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20602227G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2590G>A	18.37:g.20602227G>A	ENSP00000382628:p.Glu864Lys					RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K|RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399722.2_Missense_Mutation_p.E864K	p.W831*	NM_203292.1	NP_976037.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		17	2910	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		0					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	ENST00000399722.2	37	c.2493G>A	CCDS11875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.151752|5.151752	0.94645|0.94645	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790|ENST00000399725;ENST00000399721	T;T;T|.	0.34472|.	1.36;1.36;1.37|.	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	0.579902|.	0.18293|.	N|.	0.145662|.	T|.	0.56321|.	0.1977|.	N|N	0.24115|0.24115	0.695|0.695	0.43164|0.43164	D|D	0.994959|0.994959	P;P|.	0.43094|.	0.799;0.651|.	B;B|.	0.38378|.	0.272;0.15|.	T|.	0.62077|.	-0.6930|.	10|.	0.66056|0.66056	D|D	0.02|0.02	-9.654|-9.654	16.1959|16.1959	0.82024|0.82024	0.0:0.1331:0.8669:0.0|0.0:0.1331:0.8669:0.0	.|.	869;864|.	E7ETY1;Q99708|.	.;COM1_HUMAN|.	K|X	864;864;869|831	ENSP00000323050:E864K;ENSP00000382628:E864K;ENSP00000354024:E869K|.	ENSP00000323050:E864K|ENSP00000382627:W831X	E|W	+|+	1|3	0|0	RBBP8|RBBP8	18856225|18856225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.269000|5.269000	0.65542|0.65542	1.487000|1.487000	0.48415|0.48415	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.418	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		22	96	0	0	0	1	0	22	96				
RAF1	5894	broad.mit.edu	37	3	12653552	12653552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	ENST00000251849.4	-	3	656	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000534997.1_5'Flank|RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	73	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(217-219)Cga>Tga		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						140.0	123.0	128.0					3																	12653552		2203	4300	6503	SO:0001587	stop_gained	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12653552G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.217C>T	3.37:g.12653552G>A	ENSP00000251849:p.Arg73*					RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*	p.R73*	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			3	656	-			73			RBD.		B0LPH8|B2R5N3|Q15278|Q9UC20	Nonsense_Mutation	SNP	ENST00000251849.4	37	c.217C>T	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	40	8.319998	0.98759	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	.	.	.	5.74	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1332	0.72542	0.0:0.0:0.7415:0.2585	.	.	.	.	X	73	.	ENSP00000251849:R73X	R	-	1	2	RAF1	12628552	1.000000	0.71417	0.988000	0.46212	0.751000	0.42716	4.542000	0.60677	0.760000	0.33108	-0.414000	0.06135	CGA		0.498	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		5	109	0	0	0	1	0	5	109				
TSC22D4	81628	broad.mit.edu	37	7	100064672	100064672	+	Silent	SNP	G	G	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100064672G>T	ENST00000300181.2	-	5	1852	c.1098C>A	c.(1096-1098)cgC>cgA	p.R366R	TSC22D4_ENST00000496728.1_Intron|C7orf61_ENST00000332375.3_5'Flank|TSC22D4_ENST00000393991.1_Silent_p.R127R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCAGGGCGCGCAGCAGCC	0.697																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1096-1098)cgC>cgA		TSC22 domain family, member 4							29.0	29.0	29.0					7																	100064672		2203	4300	6503	SO:0001819	synonymous_variant	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100064672G>T	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.1098C>A	7.37:g.100064672G>T						TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R127R	p.R366R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			5	1852	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		366					A4D2C3|A8MWR6|D6W5V9	Silent	SNP	ENST00000300181.2	37	c.1098C>A	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.474839	0.01035	.	.	ENSG00000166925	ENST00000423266	.	.	.	4.16	-8.32	0.00996	.	.	.	.	.	T	0.33702	0.0872	.	.	.	0.40042	D	0.975669	.	.	.	.	.	.	T	0.39840	-0.9594	4	.	.	.	-2.3734	1.7794	0.03028	0.2588:0.3521:0.2261:0.163	.	.	.	.	E	182	.	.	A	-	2	0	TSC22D4	99902608	0.000000	0.05858	0.406000	0.26421	0.000000	0.00434	-0.801000	0.04550	-2.920000	0.00305	-3.401000	0.00039	GCG		0.697	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		4	22	1	0	0.150653	1	0.156931	4	22				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	81	0	0	0	1	0	6	81				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	74	0	0	0	1	0	5	74				
SLC35A1	10559	broad.mit.edu	37	6	88187186	88187186	+	Silent	SNP	C	C	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	ENST00000369552.4	+	2	150	c.123C>G	c.(121-123)ctC>ctG	p.L41L	SLC35A1_ENST00000369556.3_Silent_p.L41L|C6orf165_ENST00000506888.1_3'UTR|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000544441.1_5'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	41					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAAGAACTCTACTTTTCAA	0.358																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)	ENST00000369552.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(121-123)ctC>ctG		solute carrier family 35 (CMP-sialic acid transporter), member A1							106.0	100.0	102.0					6																	88187186		2203	4300	6503	SO:0001819	synonymous_variant	10559				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr6:88187186C>G	D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.123C>G	6.37:g.88187186C>G						SLC35A1_ENST00000544441.1_5'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.L41L|SLC35A1_ENST00000464978.1_3'UTR	p.L41L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	150	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	41					Q5W1L8	Silent	SNP	ENST00000369552.4	37	c.123C>G	CCDS5010.1																																																																																				0.358	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			6	114	0	0	0	1	0	6	114				
FAM217B	63939	broad.mit.edu	37	20	58520040	58520040	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:58520040G>A	ENST00000358293.3	+	5	1457	c.1042G>A	c.(1042-1044)Gca>Aca	p.A348T	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.A348T	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	348																	ACAAGCACATGCACATCCTAG	0.458																																						ENST00000358293.3																			0											c.(1042-1044)Gca>Aca		family with sequence similarity 217, member B							70.0	73.0	72.0					20																	58520040		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58520040G>A	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1042G>A	20.37:g.58520040G>A	ENSP00000351040:p.Ala348Thr					FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.A348T	p.A348T	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1457	+			348					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1042G>A	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914888	0.33815	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.32515	1.45;1.45	5.35	0.591	0.17465	.	1.020620	0.07844	N	0.963579	T	0.16085	0.0387	N	0.17082	0.46	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.32640	-0.9899	10	0.19147	T	0.46	-4.9373	4.4803	0.11764	0.221:0.1161:0.5567:0.1062	.	348	Q9NTX9	CT177_HUMAN	T	348	ENSP00000351040:A348T;ENSP00000354056:A348T	ENSP00000351040:A348T	A	+	1	0	C20orf177	57953435	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.140000	0.10342	0.219000	0.20840	0.591000	0.81541	GCA		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		15	76	0	0	0	1	0	15	76				
GNRHR	2798	broad.mit.edu	37	4	68606313	68606313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	ENST00000226413.4	-	3	896	c.872G>A	c.(871-873)tGg>tAg	p.W291*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	291					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(871-873)tGg>tAg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						177.0	183.0	181.0					4																	68606313		2203	4300	6503	SO:0001587	stop_gained	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68606313C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.872G>A	4.37:g.68606313C>T	ENSP00000226413:p.Trp291*					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L|RP11-453E17.1_ENST00000502758.1_RNA	p.W291*	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			3	896	-			291					O75793|Q14D13|Q92644	Nonsense_Mutation	SNP	ENST00000226413.4	37	c.872G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641414	0.87859	.	.	ENSG00000109163	ENST00000226413	.	.	.	5.43	4.58	0.56647	.	0.144591	0.33419	N	0.004923	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.239	14.2636	0.66102	0.0:0.8497:0.1503:0.0	.	.	.	.	X	291	.	ENSP00000226413:W291X	W	-	2	0	GNRHR	68288908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	1.406000	0.46857	0.585000	0.79938	TGG		0.403	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			17	279	0	0	0	1	0	17	279				
ELTD1	64123	broad.mit.edu	37	1	79383689	79383689	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	ENST00000370742.3	-	11	1571	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	503					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAGCAGCTAAAAAGAA	0.333																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1507-1509)gCt>gGt		EGF, latrophilin and seven transmembrane domain containing 1							125.0	118.0	120.0					1																	79383689		1885	4114	5999	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383689G>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1508C>G	1.37:g.79383689G>C	ENSP00000359778:p.Ala503Gly						p.A503G	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1571	-			503					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1508C>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130941	0.94473	.	.	ENSG00000162618	ENST00000370742	T	0.50813	0.73	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68405	-0.5417	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	503	Q9HBW9	ELTD1_HUMAN	G	503	ENSP00000359778:A503G	.	A	-	2	0	ELTD1	79156277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GCT		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		13	102	0	0	0	1	0	13	102				
LTBP4	8425	broad.mit.edu	37	19	41125346	41125346	+	Silent	SNP	G	G	T	rs371166802		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:41125346G>T	ENST00000308370.7	+	26	3363	c.3363G>T	c.(3361-3363)ccG>ccT	p.P1121P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000243562.9_Silent_p.P175P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1122	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAACAGCCCGGAAGAGTTTG	0.532																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3361-3363)ccG>ccT		latent transforming growth factor beta binding protein 4							96.0	97.0	97.0					19																	41125346		1982	4153	6135	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125346G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3363G>T	19.37:g.41125346G>T						LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000243562.9_Silent_p.P175P	p.P1121P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3363	+			1122			Pro-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3363G>T																																																																																					0.532	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	67	1	0	1	1	1	3	67				
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(5)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						52.0	58.0	56.0					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R	p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1742	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		9	60	0	0	0	1	0	9	60				
RFT1	91869	broad.mit.edu	37	3	53126463	53126463	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	ENST00000296292.3	-	12	1441	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	RFT1_ENST00000394738.3_Silent_p.R421R|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	460					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCCAGGGGCCTGTGGGGGC	0.592																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(1378-1380)agG>agA		RFT1 homolog (S. cerevisiae)							37.0	39.0	39.0					3																	53126463		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53126463C>T	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1380G>A	3.37:g.53126463C>T						RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.R421R	p.R460R	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	12	1441	-			460					Q96J03	Silent	SNP	ENST00000296292.3	37	c.1380G>A	CCDS2869.1																																																																																				0.592	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		6	10	0	0	0	1	0	6	10				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			27	88	0	0	0	1	0	27	88				
GLUD1	2746	broad.mit.edu	37	10	88835744	88835744	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	ENST00000277865.4	-	3	659	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	188					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CTTGGGATTGATCTTAACACC	0.353																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(562-564)aTc>aGc		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						150.0	151.0	151.0					10																	88835744		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88835744A>C	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.563T>G	10.37:g.88835744A>C	ENSP00000277865:p.Ile188Ser					GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S	p.I188S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			3	659	-			188					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.563T>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889784	0.72524	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.96967	-4.19;-4.14;-4.14	5.44	5.44	0.79542	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99605	1.0979	10	0.87932	D	0	.	15.1455	0.72647	1.0:0.0:0.0:0.0	.	55;188	B4DGN5;P00367	.;DHE3_HUMAN	S	188;145;21;120;55	ENSP00000277865:I188S;ENSP00000439291:I21S;ENSP00000444732:I55S	ENSP00000277865:I188S	I	-	2	0	GLUD1	88825724	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	8.903000	0.92573	2.066000	0.61787	0.397000	0.26171	ATC		0.353	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		22	127	0	0	0	1	0	22	127				
TREML2	79865	broad.mit.edu	37	6	41165998	41165998	+	Silent	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	ENST00000483722.1	-	2	410	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	75	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(223-225)ccC>ccT		triggering receptor expressed on myeloid cells-like 2							124.0	119.0	121.0					6																	41165998		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165998G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.225C>T	6.37:g.41165998G>A							p.P75P	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	410	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		75			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.225C>T	CCDS4853.2																																																																																				0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		11	177	0	0	0	1	0	11	177				
FUCA2	2519	broad.mit.edu	37	6	143823670	143823670	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:143823670C>T	ENST00000002165.6	-	4	840	c.785G>A	c.(784-786)cGt>cAt	p.R262H	FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	262					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCTCCCCAACGATCATTGGT	0.403																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(784-786)cGt>cAt		fucosidase, alpha-L- 2, plasma							101.0	92.0	95.0					6																	143823670		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823670C>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.785G>A	6.37:g.143823670C>T	ENSP00000002165:p.Arg262His					FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA	p.R262H	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	4	840	-			262					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.785G>A	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442404	0.96187	.	.	ENSG00000001036	ENST00000002165	T	0.70869	-0.52	5.8	5.8	0.92144	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93183	0.6576	10	0.49607	T	0.09	-16.1633	20.0706	0.97721	0.0:1.0:0.0:0.0	.	262	Q9BTY2	FUCO2_HUMAN	H	262	ENSP00000002165:R262H	ENSP00000002165:R262H	R	-	2	0	FUCA2	143865363	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	7.487000	0.81328	2.744000	0.94065	0.655000	0.94253	CGT		0.403	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		16	121	0	0	0	1	0	16	121				
TRIP12	9320	broad.mit.edu	37	2	230723871	230723871	+	Missense_Mutation	SNP	G	G	A	rs374836613		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	ENST00000283943.5	-	3	696	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	173					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTAGGTTTCGCAGATCTCTC	0.507																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(517-519)gCg>gTg		thyroid hormone receptor interactor 12		G	VAL/ALA	0,4406		0,0,2203	59.0	57.0	58.0		518	4.8	1.0	2		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	173/1993	230723871	1,13005	2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723871G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.518C>T	2.37:g.230723871G>A	ENSP00000283943:p.Ala173Val					TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V	p.A173V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	696	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	173					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.518C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289683	0.59976	0.0	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	T;T	0.51325	0.71;0.82	5.71	4.84	0.62591	.	0.051005	0.85682	D	0.000000	T	0.28962	0.0719	N	0.08118	0	0.51482	D	0.999927	B;B;B	0.23249	0.002;0.082;0.002	B;B;B	0.21151	0.001;0.033;0.001	T	0.05886	-1.0858	10	0.29301	T	0.29	.	14.674	0.68964	0.0696:0.0:0.9304:0.0	.	173;215;173	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	173;215;215;215;43	ENSP00000283943:A173V;ENSP00000373696:A215V	ENSP00000283943:A173V	A	-	2	0	TRIP12	230432115	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.350000	0.73017	1.429000	0.47314	-0.259000	0.10710	GCG		0.507	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		17	45	0	0	0	1	0	17	45				
FILIP1	27145	broad.mit.edu	37	6	76023092	76023092	+	Missense_Mutation	SNP	G	G	A	rs370823048		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	ENST00000237172.7	-	5	2786	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T819M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	819										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TACAGCTGGCGTTTCTTCCTC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19297	0.0		0.001	False		,,,				2504	0.0					ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2455-2457)aCg>aTg		filamin A interacting protein 1		G	MET/THR	0,4406		0,0,2203	150.0	161.0	157.0		2456	5.3	0.8	6		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	FILIP1	NM_015687.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	819/1214	76023092	1,13005	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023092G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2456C>T	6.37:g.76023092G>A	ENSP00000237172:p.Thr819Met					FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M|FILIP1_ENST00000237172.7_Missense_Mutation_p.T819M|FILIP1_ENST00000498523.1_5'UTR	p.T819M			Q7Z7B0	FLIP1_HUMAN			5	2677	-			819					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2456C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206622	0.39003	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20200	2.1;2.09;2.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.67900	0.914;0.901;0.954	T	0.05178	-1.0901	10	0.72032	D	0.01	-16.8092	19.1041	0.93285	0.0:0.0:1.0:0.0	.	819;819;819	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	819;819;720	ENSP00000376728:T819M;ENSP00000237172:T819M;ENSP00000359037:T720M	ENSP00000237172:T819M	T	-	2	0	FILIP1	76079812	1.000000	0.71417	0.782000	0.31804	0.478000	0.33099	6.087000	0.71362	2.758000	0.94735	0.563000	0.77884	ACG		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		9	288	0	0	0	1	0	9	288				
KLKB1	3818	broad.mit.edu	37	4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	rs369481447		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502																																						ENST00000264690.6																			2	Substitution - Missense(2)	p.R390H(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1168-1170)cGc>cAc		kallikrein B, plasma (Fletcher factor) 1		G	HIS/ARG	0,4406		0,0,2203	103.0	99.0	100.0		1169	5.6	1.0	4		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLKB1	NM_000892.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	390/639	187173195	1,13005	2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173195G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1169G>A	4.37:g.187173195G>A	ENSP00000264690:p.Arg390His					KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1356	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1169G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.4|22.4	4.284263|4.284263	0.80803|0.80803	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.94966	.|-3.57;-3.57	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.|0.188357	.|0.36167	.|N	.|0.002753	D|D	0.97433|0.97433	0.9160|0.9160	M|M	0.81341|0.81341	2.54|2.54	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.983;0.998	D|D	0.97628|0.97628	1.0140|1.0140	5|10	.|0.87932	.|D	.|0	.|.	19.9477|19.9477	0.97189|0.97189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|352;390;390	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	438|390;390;352	.|ENSP00000264690:R390H;ENSP00000424469:R390H	.|ENSP00000264690:R390H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187410189|187410189	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.177000|0.177000	0.22998|0.22998	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		5	131	0	0	0	1	0	5	131				
APOB	338	broad.mit.edu	37	2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	ENST00000233242.1	-	26	9524	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3133					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCATTTCAGGAATTGTTAAA	0.373																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9397-9399)Cct>Tct		apolipoprotein B	Atorvastatin(DB01076)						110.0	114.0	113.0					2																	21230343		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230343G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9397C>T	2.37:g.21230343G>A	ENSP00000233242:p.Pro3133Ser						p.P3133S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9524	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3133					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9397C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245519	0.80024	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.43294	0.95	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000006	T	0.73401	0.3582	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77960	-0.2391	10	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	3133	P04114	APOB_HUMAN	S	3133	ENSP00000233242:P3133S	ENSP00000233242:P3133S	P	-	1	0	APOB	21083848	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.804000	0.99143	2.780000	0.95670	0.655000	0.94253	CCT		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			34	119	0	0	0	1	0	34	119				
NCOR1	9611	broad.mit.edu	37	17	15978996	15978996	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	ENST00000268712.3	-	27	3779	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1174	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTATGCCAGTCTGGGGCAGAG	0.493																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3520-3522)caG>caA		nuclear receptor corepressor 1							80.0	77.0	78.0					17																	15978996		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978996C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3522G>A	17.37:g.15978996C>T						NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	p.Q1174Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3779	-			1174			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3522G>A	CCDS11175.1																																																																																				0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	114	0	0	0	1	0	5	114				
KIAA1024	23251	broad.mit.edu	37	15	79748620	79748620	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	ENST00000305428.3	+	2	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	44						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(130-132)gCc>gAc		KIAA1024							121.0	114.0	117.0					15																	79748620		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748620C>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.131C>A	15.37:g.79748620C>A	ENSP00000307461:p.Ala44Asp						p.A44D	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	206	+			44					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.131C>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267190	0.80469	.	.	ENSG00000169330	ENST00000305428	T	0.35048	1.33	5.88	5.88	0.94601	.	0.468182	0.25352	N	0.031294	T	0.46054	0.1373	M	0.67953	2.075	0.50039	D	0.999844	P	0.39216	0.664	B	0.41860	0.368	T	0.28459	-1.0043	9	.	.	.	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	44	Q9UPX6	K1024_HUMAN	D	44	ENSP00000307461:A44D	.	A	+	2	0	KIAA1024	77535675	0.976000	0.34144	0.035000	0.18076	0.992000	0.81027	3.467000	0.53078	2.781000	0.95711	0.591000	0.81541	GCC		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		34	104	1	0	4.32679e-17	1	4.80755e-17	34	104				
COQ3	51805	broad.mit.edu	37	6	99817516	99817516	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	ENST00000254759.3	-	7	1094	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	COQ3_ENST00000369240.1_Missense_Mutation_p.A129V|COQ3_ENST00000369242.1_Missense_Mutation_p.A129V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	357					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(1069-1071)gCc>gTc		coenzyme Q3 methyltransferase							151.0	155.0	153.0					6																	99817516		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817516G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1070C>T	6.37:g.99817516G>A	ENSP00000254759:p.Ala357Val					COQ3_ENST00000369242.1_Missense_Mutation_p.A129V|COQ3_ENST00000369240.1_Missense_Mutation_p.A129V	p.A357V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	1094	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	357					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.1070C>T	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133965	0.21123	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.33865	1.78;1.39;1.39	4.88	0.886	0.19194	.	1.093350	0.06914	N	0.808128	T	0.07143	0.0181	N	0.16478	0.41	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37731	-0.9693	10	0.23891	T	0.37	-2.5976	5.6138	0.17420	0.1487:0.0:0.5763:0.275	.	357	Q9NZJ6	COQ3_HUMAN	V	357;129;129	ENSP00000254759:A357V;ENSP00000358245:A129V;ENSP00000358243:A129V	ENSP00000254759:A357V	A	-	2	0	COQ3	99924237	0.001000	0.12720	0.000000	0.03702	0.059000	0.15707	0.474000	0.22148	-0.060000	0.13132	-0.145000	0.13849	GCC		0.403	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		42	182	0	0	0	1	0	42	182				
FBLN2	2199	broad.mit.edu	37	3	13679124	13679124	+	Missense_Mutation	SNP	C	C	T	rs199626220		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	ENST00000295760.7	+	17	3329	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000404922.3_Missense_Mutation_p.T1134M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1087	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3400-3402)aCg>aTg		fibulin 2							43.0	47.0	46.0					3																	13679124		2183	4280	6463	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679124C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3260C>T	3.37:g.13679124C>T	ENSP00000295760:p.Thr1087Met					FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1087M	p.T1134M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3520	+			1087			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3401C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626984	0.46840	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80214	-1.35;-1.34;-1.26;-1.34	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.83603	2.65	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.90804	0.4696	10	0.87932	D	0	.	13.2007	0.59765	0.0:0.9233:0.0:0.0767	.	1087;1134;1113	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	M	1113;1134;1087;1134	ENSP00000445705:T1113M;ENSP00000384169:T1134M;ENSP00000295760:T1087M;ENSP00000420042:T1134M	ENSP00000295760:T1087M	T	+	2	0	FBLN2	13654125	1.000000	0.71417	0.847000	0.33407	0.019000	0.09904	7.584000	0.82572	1.282000	0.44496	-0.136000	0.14681	ACG		0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		7	81	0	0	0	1	0	7	81				
PDP2	57546	broad.mit.edu	37	16	66919405	66919405	+	Silent	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	ENST00000311765.2	+	2	1552	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	406					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1216-1218)ttC>ttT		pyruvate dehyrogenase phosphatase catalytic subunit 2							114.0	102.0	106.0					16																	66919405		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919405C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1218C>T	16.37:g.66919405C>T						PDP2_ENST00000568720.1_Intron	p.F406F	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1552	+		Ovarian(137;0.0563)	406					A8K924	Silent	SNP	ENST00000311765.2	37	c.1218C>T	CCDS10822.1																																																																																				0.567	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		38	94	0	0	0	1	0	38	94				
NBAS	51594	broad.mit.edu	37	2	15523366	15523366	+	Silent	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	ENST00000281513.5	-	29	3358	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_ENST00000441750.1_Silent_p.T991T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1111					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTAGACATGTGTATACAT	0.348																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3331-3333)acA>acG		neuroblastoma amplified sequence							94.0	93.0	93.0					2																	15523366		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15523366T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3333A>G	2.37:g.15523366T>C						NBAS_ENST00000441750.1_Silent_p.T991T	p.T1111T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			29	3358	-			1111					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3333A>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	6.860	0.527955	0.13127	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.89	-11.8	0.00035	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68205	-0.5470	4	.	.	.	.	12.7384	0.57238	0.0:0.2083:0.4937:0.298	.	.	.	.	R	159	.	.	H	-	2	0	NBAS	15440817	0.000000	0.05858	0.067000	0.19924	0.741000	0.42261	-6.140000	0.00079	-2.496000	0.00513	0.460000	0.39030	CAT		0.348	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		30	90	0	0	0	1	0	30	90				
OLFML2A	169611	broad.mit.edu	37	9	127572530	127572530	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	ENST00000373580.3	+	8	1798	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	600	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1798-1800)Tac>Cac		olfactomedin-like 2A							151.0	121.0	131.0					9																	127572530		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572530T>C	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1798T>C	9.37:g.127572530T>C	ENSP00000362682:p.Tyr600His					OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	p.Y600H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1798	+			600			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1798T>C	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110792	0.77210	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.91180	-2.8;-2.8	5.39	5.39	0.77823	Olfactomedin-like (3);	0.067793	0.64402	D	0.000010	D	0.94912	0.8355	M	0.78223	2.4	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.78314	0.82;0.991	D	0.95446	0.8530	10	0.87932	D	0	.	14.2266	0.65863	0.0:0.0:0.0:1.0	.	386;600	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	292;600;386	ENSP00000362682:Y600H;ENSP00000288815:Y386H	ENSP00000288815:Y386H	Y	+	1	0	OLFML2A	126612351	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.040000	0.89188	2.037000	0.60232	0.459000	0.35465	TAC		0.637	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		19	59	0	0	0	1	0	19	59				
H3F3C	440093	broad.mit.edu	37	12	31944718	31944718	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	ENST00000340398.3	-	1	457	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	128					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(382-384)cGc>cAc		H3 histone, family 3C							125.0	120.0	122.0					12																	31944718		2203	4298	6501	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944718C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.383G>A	12.37:g.31944718C>T	ENSP00000339835:p.Arg128His	HNSCC(67;0.2)					p.R128H	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	457	-			128					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.383G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357039	0.24598	.	.	ENSG00000188375	ENST00000340398	T	0.70164	-0.46	1.34	1.34	0.21922	Histone-fold (2);Histone core (1);	0.000000	0.49305	U	0.000142	T	0.65523	0.2699	M	0.82323	2.585	0.36861	D	0.888417	B	0.14805	0.011	B	0.22601	0.04	T	0.68104	-0.5497	10	0.59425	D	0.04	.	8.3287	0.32173	0.0:1.0:0.0:0.0	.	128	Q6NXT2	H3C_HUMAN	H	128	ENSP00000339835:R128H	ENSP00000339835:R128H	R	-	2	0	H3F3C	31835985	1.000000	0.71417	0.952000	0.39060	0.905000	0.53344	5.404000	0.66344	0.755000	0.32990	0.413000	0.27773	CGC		0.443	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		27	151	0	0	0	1	0	27	151				
NBPF9	400818	broad.mit.edu	37	1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	rs202229831	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0.0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74.0	58.0	63.0					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		5	185	1	0	0.0215528	1	0.0229285	5	185				
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Silent	SNP	G	G	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:137804960G>T	ENST00000371806.3	-	6	461	c.370C>A	c.(370-372)Cgg>Agg	p.R124R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(370-372)Cgg>Agg		ficolin (collagen/fibrinogen domain containing) 1							44.0	42.0	43.0					9																	137804960		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804960G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.370C>A	9.37:g.137804960G>T							p.R124R	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	6	461	-		Myeloproliferative disorder(178;0.0333)	124			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.370C>A	CCDS6985.1																																																																																				0.682	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		3	44	1	0	1	1	1	3	44				
IL1RL2	8808	broad.mit.edu	37	2	102808543	102808543	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	ENST00000264257.2	+	4	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	151	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.P151Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328																																						ENST00000264257.2																			1	Substitution - Missense(1)	p.P151Q(1)	lung(1)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(451-453)cCg>cTg		interleukin 1 receptor-like 2							94.0	90.0	92.0					2																	102808543		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102808543C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.452C>T	2.37:g.102808543C>T	ENSP00000264257:p.Pro151Leu					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L|IL1RL2_ENST00000481806.1_Intron	p.P151L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			4	578	+			151			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.452C>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.939025	0.18281	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.76448	-1.02;1.55;-1.02	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.163640	0.01589	N	0.021473	T	0.78387	0.4275	M	0.78344	2.41	0.48571	D	0.999675	P	0.37663	0.604	B	0.28784	0.094	T	0.64728	-0.6339	10	0.11485	T	0.65	.	15.0204	0.71627	0.0:1.0:0.0:0.0	.	151	Q9HB29	ILRL2_HUMAN	L	151	ENSP00000264257:P151L;ENSP00000387611:P151L;ENSP00000442184:P151L	ENSP00000264257:P151L	P	+	2	0	IL1RL2	102174975	0.983000	0.35010	0.850000	0.33497	0.016000	0.09150	3.439000	0.52878	2.692000	0.91855	0.655000	0.94253	CCG		0.328	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		3	78	0	0	0	1	0	3	78				
AGO1	26523	broad.mit.edu	37	1	36359738	36359739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:36359738_36359739delCT	ENST00000373204.4	+	6	963_964	c.750_751delCT	c.(748-753)gactctfs	p.S251fs	AGO1_ENST00000373206.1_Frame_Shift_Del_p.S176fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	251	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCCTCACGGACTCTCAGCGCGT	0.55																																						ENST00000373204.4																			0											c.(748-753)gactfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36359738_36359739delCT	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.750_751delCT	1.37:g.36359740_36359741delCT	ENSP00000362300:p.Ser251fs					AGO1_ENST00000373206.1_Frame_Shift_Del_p.DS175fs	p.DS250fs	NM_012199.2	NP_036331.1					6	963_964	+								Q5TA57|Q6P4S0	Frame_Shift_Del	DEL	ENST00000373204.4	37	c.750_751delCT	CCDS398.1																																																																																				0.550	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			11	49						11	49	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	4						3	4	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	ENST00000370768.2	-	17	1712_1713	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y545fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.Y545fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	545	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1630-1632)tfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422330_78422331delAT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1631_1632delAT	1.37:g.78422330_78422331delAT	ENSP00000359804:p.Tyr545fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y545fs	p.Y545fs			Q96AE4	FUBP1_HUMAN			17	1718_1719	-			545			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1631_1632delAT	CCDS683.1																																																																																				0.431	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		36	74						36	74	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196694339	196694341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	ENST00000367429.4	+	12	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGAAATTCTCCTGCAAACCA	0.394																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1783-1788)ttc>tt		complement factor H																																				SO:0001651	inframe_deletion	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694339_196694341delCTC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1785_1787delCTC	1.37:g.196694339_196694341delCTC	ENSP00000356399:p.Ser596del						p.FS595del	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			12	2025_2027	+			595			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	In_Frame_Del	DEL	ENST00000367429.4	37	c.1785_1787delCTC	CCDS1385.1																																																																																				0.394	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		24	99						24	99	---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	GCTT	-	rs189849692	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	ENST00000254630.7	+	14	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.SL368fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1102-1107)tcfs		pentatricopeptide repeat domain 3																																				SO:0001589	frameshift_variant	55037					mitochondrion	protein binding	g.chr2:86355071_86355074delGCTT		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1104_1107delGCTT	2.37:g.86355071_86355074delGCTT	ENSP00000254630:p.Ser368fs						p.SL368fs	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			14	1170_1173	+			368					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Frame_Shift_Del	DEL	ENST00000254630.7	37	c.1104_1107delGCTT	CCDS33235.1																																																																																				0.333	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		23	189						23	189	---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	ENST00000429709.2	+	12	1284_1285	c.1071_1072delAC	c.(1069-1074)atacagfs	p.Q358fs	ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.Q316fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.Q316fs|RP11-15L13.4_ENST00000608818.1_RNA|RP11-145M9.6_ENST00000610007.1_RNA	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	358					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(1069-1074)atagfs		actin-like 6A																																				SO:0001589	frameshift_variant	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179301185_179301186delAC	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1071_1072delAC	3.37:g.179301185_179301186delAC	ENSP00000397552:p.Gln358fs					ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.IQ315fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.IQ315fs	p.IQ357fs	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		12	1284_1285	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		357					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Frame_Shift_Del	DEL	ENST00000429709.2	37	c.1071_1072delAC	CCDS3231.1																																																																																				0.347	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		16	298						16	298	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	ENST00000358602.4	-	26	5107_5108	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1664	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4990-4992)afs		ankyrin repeat domain 17																																				SO:0001589	frameshift_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73963819_73963820delTC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4991_4992delGA	4.37:g.73963823_73963824delTC	ENSP00000351416:p.Arg1664fs					ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs	p.R1664fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5107_5108	-	Breast(15;0.000295)		1664			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	c.4991_4992delGA	CCDS34004.1																																																																																				0.361	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		34	183						34	183	---	---	---	---
DST	667	broad.mit.edu	37	6	56472643	56472645	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:56472643_56472645delAAG	ENST00000361203.3	-	36	6155_6157	c.6148_6150delCTT	c.(6148-6150)cttdel	p.L2050del	DST_ENST00000312431.6_In_Frame_Del_p.L2050del|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_In_Frame_Del_p.L2050del|DST_ENST00000370754.5_In_Frame_Del_p.L2228del|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_In_Frame_Del_p.L1724del			Q03001	DYST_HUMAN	dystonin	2050					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)			AAGCATTATTAAGAAATACACCA	0.404																																						ENST00000370754.5																			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.(6682-6684)del		dystonin																																				SO:0001651	inframe_deletion	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.chr6:56472643_56472645delAAG	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	ENST00000361203.3:c.6148_6150delCTT	6.37:g.56472643_56472645delAAG	ENSP00000354508:p.Leu2050del					DST_ENST00000370769.4_In_Frame_Del_p.L2050del|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_In_Frame_Del_p.L1724del|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_In_Frame_Del_p.L2050del|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_In_Frame_Del_p.L2050del	p.L2228del			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	6681_6683	-	Lung NSC(77;0.103)		2050					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000361203.3	37	c.6682_6684delCTT																																																																																					0.404	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		53	167						53	167	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	ENST00000519065.1	-	8	1157_1158	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	261	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q261P(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371																																						ENST00000519065.1																			1	Substitution - Missense(1)	p.Q261P(1)	central_nervous_system(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(781-783)gfs		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270202_114270203delTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.781_782delCA	6.37:g.114270202_114270203delTG	ENSP00000430432:p.Gln261fs					HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs	p.Q261fs			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	8	1157_1158	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	261			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.781_782delCA	CCDS43493.2																																																																																				0.371	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			7	322						7	322	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	ENST00000297142.3	-	2	628_629	c.306_307delCG	c.(304-309)cgcgagfs	p.E103fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.47																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(304-309)cgagfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378576_31378577delCG	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.306_307delCG	7.37:g.31378582_31378583delCG	ENSP00000297142:p.Glu103fs						p.RE102fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	628_629	-			102					Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	c.306_307delCG	CCDS5434.1																																																																																				0.470	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		8	316						8	316	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	ENST00000395060.1	+	10	2472_2473	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.V825fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.V790fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.V825fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	825						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2470-2475)actgfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73795186_73795187delTG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2472_2473delTG	7.37:g.73795188_73795189delTG	ENSP00000378500:p.Val825fs					CLIP2_ENST00000361545.5_Frame_Shift_Del_p.TV789fs|CLIP2_ENST00000395060.1_Frame_Shift_Del_p.TV824fs	p.TV824fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			11	2799_2800	+			824					O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	c.2472_2473delTG	CCDS5569.1																																																																																				0.579	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		63	199						63	199	---	---	---	---
OTUB1	55611	broad.mit.edu	37	11	63764577	63764579	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	ENST00000538426.1	+	6	523_525	c.479_481delCCT	c.(478-483)gcctcc>gcc	p.S161del	OTUB1_ENST00000543004.1_In_Frame_Del_p.S170del|OTUB1_ENST00000541478.1_In_Frame_Del_p.S60del|OTUB1_ENST00000543988.1_In_Frame_Del_p.S131del|OTUB1_ENST00000428192.2_In_Frame_Del_p.S161del|OTUB1_ENST00000422031.2_In_Frame_Del_p.S198del|OTUB1_ENST00000535715.1_In_Frame_Del_p.S161del	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	161	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(175-180)gcc>g		OTU domain, ubiquitin aldehyde binding 1																																				SO:0001651	inframe_deletion	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764577_63764579delCCT	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.479_481delCCT	11.37:g.63764580_63764582delCCT	ENSP00000444357:p.Ser161del					OTUB1_ENST00000538426.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000422031.2_In_Frame_Del_p.AS197del|OTUB1_ENST00000428192.2_In_Frame_Del_p.AS160del|OTUB1_ENST00000535715.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000543988.1_In_Frame_Del_p.AS130del|OTUB1_ENST00000543004.1_In_Frame_Del_p.AS169del	p.AS59del			Q96FW1	OTUB1_HUMAN			3	636_638	+			160					Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	In_Frame_Del	DEL	ENST00000538426.1	37	c.176_178delCCT	CCDS8055.1																																																																																				0.591	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		50	258						50	258	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		13	219						13	219	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	ATCTTCATACTGTGATGAGT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	ENST00000394947.3	-	16	3238_3257	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.DSSQYED975fs	SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2923-2943)gfs		SIN3 transcription regulator family member A																																				SO:0001589	frameshift_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2924_2943delACTCATCACAGTATGAAGAT	15.37:g.75682071_75682090delATCTTCATACTGTGATGAGT	ENSP00000378402:p.Asp975fs					SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs	p.DSSQYED975fs	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			16	3238_3257	-			975						Frame_Shift_Del	DEL	ENST00000394947.3	37	c.2924_2943delACTCATCACAGTATGAAGAT	CCDS10279.1																																																																																				0.491	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		10	188						10	188	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793443	42793444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	ENST00000575354.2	+	8	1285_1286	c.1245_1246insC	c.(1246-1248)cccfs	p.P416fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1325fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P416fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACTGGGCGGCCCCCGCTGCT	0.644			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3970-3975)cgccccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793443_42793444insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1250dupC	19.37:g.42793448_42793448dupC	ENSP00000458663:p.Pro416fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.RP415fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.RP415fs	p.RP1324fs			Q96RK0	CIC_HUMAN			9	4040_4041	+		Prostate(69;0.00682)	415					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.3972_3973insC	CCDS12601.1																																																																																				0.644	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			14	45						14	45	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	ENST00000316562.4	+	3	1089_1092	c.1083_1086delTTAC	c.(1081-1086)tattacfs	p.YY361fs	PANK2_ENST00000497424.1_Frame_Shift_Del_p.YY70fs|PANK2_ENST00000610179.1_Frame_Shift_Del_p.YY238fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	361					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	GRCh37	CD014273	PANK2	D		c.(208-213)tafs		pantothenate kinase 2																																				SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3891325_3891328delTTAC	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1083_1086delTTAC	20.37:g.3891325_3891328delTTAC	ENSP00000313377:p.Tyr361fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.YY361fs	p.YY70fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			3	521_524	+			361					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.210_213delTTAC	CCDS13071.2																																																																																				0.402	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		11	155						11	155	---	---	---	---
RP5-963E22.4	0	broad.mit.edu	37	20	61798880	61798881	+	lincRNA	INS	-	-	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:61798880_61798881insC	ENST00000423020.1	-	0	188																											ccccacctcagcccctcctcag	0.703																																						ENST00000423020.1																			0																																																			0							g.chr20:61798880_61798881insC																													20.37:g.61798884_61798884dupC														0	188	-									RNA	INS	ENST00000423020.1	37																																																																																						0.703	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000276288.1			6	13						6	13	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	164						8	164	---	---	---	---
