#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADAMTS12	81792	broad.mit.edu	37	5	33576198	33576198	+	Silent	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:33576198G>A	ENST00000504830.1	-	19	4268	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G	ADAMTS12_ENST00000352040.3_Silent_p.G1226G|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1311	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAGCCGTGGCCGTTTGTGA	0.473										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3931-3933)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							113.0	113.0	113.0					5																	33576198		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576198G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3933C>T	5.37:g.33576198G>A		HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000352040.3_Silent_p.G1226G	p.G1311G	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			19	4268	-			1311			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3933C>T	CCDS34140.1																																																																																				0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	102	0	0	0	1	0	13	102				
CCDC89	220388	broad.mit.edu	37	11	85397134	85397134	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr11:85397134T>G	ENST00000316398.3	-	1	186	c.40A>C	c.(40-42)Atg>Ctg	p.M14L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGGGTGTCCATCCTGGGAGCC	0.522																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(40-42)Atg>Ctg		coiled-coil domain containing 89							65.0	69.0	68.0					11																	85397134		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85397134T>G	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.40A>C	11.37:g.85397134T>G	ENSP00000320649:p.Met14Leu		Somatic					p.M14L	NM_152723.1	NP_689936.1	WXS	Illumina GAIIx	Phase_I	Q8N998	CCD89_HUMAN			1	186	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	14						Missense_Mutation	SNP	ENST00000316398.3	37	c.40A>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534471	0.45073	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.24	5.24	0.73138	.	0.195088	0.26317	N	0.025070	T	0.45316	0.1336	M	0.68317	2.08	0.30703	N	0.750139	P	0.50943	0.94	P	0.46850	0.529	T	0.56848	-0.7911	8	.	.	.	-14.4867	8.8192	0.35016	0.0:0.0845:0.0:0.9155	.	14	Q8N998	CCD89_HUMAN	L	14	.	.	M	-	1	0	CCDC89	85074782	0.988000	0.35896	0.988000	0.46212	0.643000	0.38383	2.299000	0.43611	2.188000	0.69820	0.533000	0.62120	ATG		0.522	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		11	61	0	0	0	1	0	11	61				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr		Somatic				ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	WXS	Illumina GAIIx	Phase_I	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	19	1	0	6.4e-05	1	6.63704e-05	3	19				
SPEG	10290	broad.mit.edu	37	2	220344823	220344823	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:220344823T>C	ENST00000312358.7	+	25	5435	c.5303T>C	c.(5302-5304)aTt>aCt	p.I1768T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1768	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACCCGAGATTGTCAATCAG	0.607																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5302-5304)aTt>aCt		SPEG complex locus							81.0	86.0	84.0					2																	220344823		2097	4234	6331	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344823T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5303T>C	2.37:g.220344823T>C	ENSP00000311684:p.Ile1768Thr		Somatic				SPEG_ENST00000485813.1_3'UTR	p.I1768T	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	25	5435	+		Renal(207;0.0183)	1768			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5303T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	t	15.03	2.711137	0.48517	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.55	3.36	0.38483	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169966	0.27922	N	0.017320	T	0.79058	0.4382	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79876	-0.1618	10	0.87932	D	0	.	10.6646	0.45723	0.1436:0.0:0.0:0.8564	.	1768	Q15772	SPEG_HUMAN	T	1768	ENSP00000311684:I1768T	ENSP00000265327:I1768T	I	+	2	0	SPEG	220053067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	0.851000	0.35264	0.492000	0.49549	ATT		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		21	35	0	0	0	1	0	21	35				
ARHGEF40	55701	broad.mit.edu	37	14	21548919	21548919	+	Missense_Mutation	SNP	G	G	T	rs527744379		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr14:21548919G>T	ENST00000298694.4	+	12	2601	c.2474G>T	c.(2473-2475)cGt>cTt	p.R825L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	825						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCGATTCCGTGCTTTCAGC	0.637																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2473-2475)cGt>cTt		Rho guanine nucleotide exchange factor (GEF) 40							56.0	51.0	53.0					14																	21548919		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21548919G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2474G>T	14.37:g.21548919G>T	ENSP00000298694:p.Arg825Leu		Somatic				ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L	p.R825L			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			12	2601	+			825					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2474G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200219	0.58126	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02552	4.32;4.25	5.14	4.17	0.49024	.	0.140337	0.32640	N	0.005826	T	0.02342	0.0072	N	0.19112	0.55	0.29799	N	0.832577	P;P	0.44690	0.626;0.841	B;B	0.41917	0.37;0.127	T	0.36601	-0.9741	10	0.40728	T	0.16	.	7.7204	0.28729	0.114:0.0:0.886:0.0	.	825;825	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	L	825	ENSP00000298694:R825L;ENSP00000298693:R825L	ENSP00000298693:R825L	R	+	2	0	ARHGEF40	20618759	0.913000	0.31002	0.998000	0.56505	0.994000	0.84299	1.078000	0.30754	2.649000	0.89929	0.655000	0.94253	CGT		0.637	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	22	1	0	0.000673444	1	0.000673444	8	22				
N4BP2	55728	broad.mit.edu	37	4	40146262	40146262	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:40146262A>C	ENST00000261435.6	+	16	5401	c.4985A>C	c.(4984-4986)cAt>cCt	p.H1662P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1662					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGTACTCTTCATGAGCAGAAG	0.433																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4984-4986)cAt>cCt		NEDD4 binding protein 2							121.0	114.0	117.0					4																	40146262		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40146262A>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4985A>C	4.37:g.40146262A>C	ENSP00000261435:p.His1662Pro		Somatic					p.H1662P	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			16	5401	+			1662					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4985A>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893299	0.72524	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.25579	1.79	5.15	5.15	0.70609	Domain of unknown function DUF1771 (1);	0.123240	0.53938	D	0.000057	T	0.54775	0.1879	M	0.82323	2.585	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62435	-0.6855	10	0.87932	D	0	-8.5331	14.9703	0.71229	1.0:0.0:0.0:0.0	.	1645;1662	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	P	1662;1582	ENSP00000261435:H1662P	ENSP00000261435:H1662P	H	+	2	0	N4BP2	39822657	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.862000	0.92283	1.925000	0.55765	0.374000	0.22700	CAT		0.433	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		57	52	0	0	0	1	0	57	52				
MED12	9968	broad.mit.edu	37	X	70339611	70339611	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chrX:70339611C>T	ENST00000374080.3	+	3	312	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	MED12_ENST00000333646.6_Missense_Mutation_p.P94S|MED12_ENST00000374102.1_Missense_Mutation_p.P94S			Q93074	MED12_HUMAN	mediator complex subunit 12	94					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCGCAGGAAGCCCCAAGTGAA	0.493			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(280-282)Ccc>Tcc		mediator complex subunit 12							47.0	44.0	45.0					X																	70339611		1951	4131	6082	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339611C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.280C>T	X.37:g.70339611C>T	ENSP00000363193:p.Pro94Ser		Somatic				MED12_ENST00000374102.1_Missense_Mutation_p.P94S|MED12_ENST00000374080.3_Missense_Mutation_p.P94S	p.P94S	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			3	479	+	Renal(35;0.156)		94					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.280C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979662	0.34942	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.57436	0.4;0.41;0.41;0.47	5.73	2.93	0.34026	.	0.267486	0.37261	N	0.002166	T	0.54711	0.1875	L	0.29908	0.895	0.43719	D	0.996197	P;D;P	0.89917	0.715;1.0;0.878	P;D;P	0.91635	0.805;0.999;0.792	T	0.45145	-0.9281	10	0.26408	T	0.33	-1.1292	8.0157	0.30379	0.0:0.7222:0.1287:0.1491	.	94;94;94	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	S	94;94;94;94;62	ENSP00000333125:P94S;ENSP00000363215:P94S;ENSP00000363193:P94S;ENSP00000414203:P62S	ENSP00000333125:P94S	P	+	1	0	MED12	70256336	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.854000	0.55949	0.248000	0.21435	0.600000	0.82982	CCC		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	0	0	0	0	1	0	12	0				
MB21D1	115004	broad.mit.edu	37	6	74134996	74134996	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:74134996A>G	ENST00000370315.3	-	5	1617	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	508					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTCATATTCAATTTGCTTTGT	0.299																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1522-1524)aTt>aCt		Mab-21 domain containing 1							36.0	36.0	36.0					6																	74134996		2203	4299	6502	SO:0001583	missense	115004							g.chr6:74134996A>G	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1523T>C	6.37:g.74134996A>G	ENSP00000359339:p.Ile508Thr		Somatic				MB21D1_ENST00000370318.1_Intron	p.I508T	NM_138441.2	NP_612450.2	WXS	Illumina GAIIx	Phase_I	Q8N884	M21D1_HUMAN			5	1617	-			508					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.1523T>C	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438861	0.63067	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	T	0.09163	3.01	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.24661	0.0598	M	0.79123	2.44	0.46678	D	0.999154	D	0.89917	1.0	D	0.91635	0.999	T	0.01405	-1.1363	10	0.41790	T	0.15	-19.2525	14.7073	0.69200	1.0:0.0:0.0:0.0	.	508	Q8N884	M21D1_HUMAN	T	508;491	ENSP00000359339:I508T	ENSP00000296913:I491T	I	-	2	0	MB21D1	74191717	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	5.419000	0.66435	2.219000	0.72066	0.528000	0.53228	ATT		0.299	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		24	34	0	0	0	1	0	24	34				
IQGAP2	10788	broad.mit.edu	37	5	75969313	75969313	+	Silent	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:75969313A>G	ENST00000274364.6	+	25	3405	c.3108A>G	c.(3106-3108)acA>acG	p.T1036T	IQGAP2_ENST00000502745.1_Silent_p.T532T|IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000379730.3_Silent_p.T538T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1036	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTCTAACATACCCAGAAG	0.413																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3106-3108)acA>acG		IQ motif containing GTPase activating protein 2							104.0	101.0	102.0					5																	75969313		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75969313A>G	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3108A>G	5.37:g.75969313A>G			Somatic				IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000502745.1_Silent_p.T532T	p.T1036T	NM_006633.2	NP_006624	WXS	Illumina GAIIx	Phase_I	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	25	3405	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1036			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3108A>G	CCDS34188.1																																																																																				0.413	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		9	72	0	0	0	1	0	9	72				
PHF7	51533	broad.mit.edu	37	3	52442542	52442542	+	5'Flank	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:52442542T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.D68G|BAP1_ENST00000296288.5_Missense_Mutation_p.D68G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CACGGACGTATCATCCACCAA	0.502																																						ENST00000460680.1										"""N, Mis, F, S, O"""						"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(202-204)gAt>gGt		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							66.0	55.0	59.0					3																	52442542		2202	4300	6502	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442542T>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442542T>C	Exception_encountered		Somatic				BAP1_ENST00000296288.5_Missense_Mutation_p.D68G	p.D68G	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	674	-			68					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.203A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852084	0.71719	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53857	0.6;0.6	5.43	5.43	0.79202	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.332135	0.36066	N	0.002808	T	0.30039	0.0752	N	0.02142	-0.665	0.58432	D	0.999999	B	0.18461	0.028	B	0.20384	0.029	T	0.18366	-1.0339	10	0.54805	T	0.06	-4.0493	15.4677	0.75416	0.0:0.0:0.0:1.0	.	68	Q92560	BAP1_HUMAN	G	68	ENSP00000417132:D68G;ENSP00000296288:D68G	ENSP00000296288:D68G	D	-	2	0	BAP1	52417582	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.005000	0.88553	2.061000	0.61500	0.533000	0.62120	GAT		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		10	1	0	0	0	1	0	10	1				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		35	40	0	0	0	1	0	35	40				
TRPV2	51393	broad.mit.edu	37	17	16320989	16320989	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:16320989T>G	ENST00000338560.7	+	2	406	c.7T>G	c.(7-9)Tca>Gca	p.S3A	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	3	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGATGACCTCACCCTCCAG	0.582																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(7-9)Tca>Gca		transient receptor potential cation channel, subfamily V, member 2							72.0	61.0	65.0					17																	16320989		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16320989T>G	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.7T>G	17.37:g.16320989T>G	ENSP00000342222:p.Ser3Ala		Somatic				TRPV2_ENST00000577397.1_5'UTR	p.S3A	NM_016113.4	NP_057197.2	WXS	Illumina GAIIx	Phase_I	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	406	+			3			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.7T>G	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	T	4.878	0.163160	0.09287	.	.	ENSG00000187688	ENST00000338560	D	0.88046	-2.33	5.29	-2.48	0.06423	.	1.305430	0.05349	N	0.531535	T	0.82033	0.4949	L	0.44542	1.39	0.09310	N	0.999996	B	0.27229	0.172	B	0.25140	0.058	T	0.69045	-0.5249	10	0.62326	D	0.03	-0.1787	9.8456	0.41026	0.1069:0.0:0.5186:0.3745	.	3	Q9Y5S1	TRPV2_HUMAN	A	3	ENSP00000342222:S3A	ENSP00000342222:S3A	S	+	1	0	TRPV2	16261714	0.001000	0.12720	0.030000	0.17652	0.013000	0.08279	0.147000	0.16202	-0.513000	0.06496	-1.871000	0.00553	TCA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		8	76	0	0	0	1	0	8	76				
B4GALT4	8702	broad.mit.edu	37	3	118945808	118945808	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:118945808G>A	ENST00000483209.1	-	4	975	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000467604.1_Missense_Mutation_p.R112W|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	112					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCGATACCGGCCTCTGGAC	0.502																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(334-336)Cgg>Tgg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						120.0	111.0	114.0					3																	118945808		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118945808G>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.334C>T	3.37:g.118945808G>A	ENSP00000420161:p.Arg112Trp		Somatic				B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000483209.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR	p.R112W			WXS	Illumina GAIIx	Phase_I	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	4	725	-			112					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.334C>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040308	0.55003	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.54071	1.57;1.57;1.57;1.57;1.57;0.59	6.02	6.02	0.97574	.	0.389342	0.29009	N	0.013436	T	0.67230	0.2871	M	0.76170	2.325	0.43145	D	0.994904	D	0.89917	1.0	P	0.56788	0.806	T	0.68773	-0.5320	10	0.52906	T	0.07	-8.285	14.3748	0.66867	0.0:0.0:0.8524:0.1476	.	112	O60513	B4GT4_HUMAN	W	112	ENSP00000420161:R112W;ENSP00000417226:R112W;ENSP00000352144:R112W;ENSP00000377360:R112W;ENSP00000417188:R112W;ENSP00000417958:R112W	ENSP00000352144:R112W	R	-	1	2	B4GALT4	120428498	1.000000	0.71417	0.980000	0.43619	0.028000	0.11728	4.499000	0.60380	2.865000	0.98341	0.655000	0.94253	CGG		0.502	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		20	10	0	0	0	1	0	20	10				
SMCR8	140775	broad.mit.edu	37	17	18221249	18221249	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:18221249C>A	ENST00000406438.3	+	1	2626	c.2146C>A	c.(2146-2148)Cag>Aag	p.Q716K	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	716						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTCATCCGCCAGTACCCCTT	0.562																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2146-2148)Cag>Aag		Smith-Magenis syndrome chromosome region, candidate 8							84.0	65.0	72.0					17																	18221249		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18221249C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2146C>A	17.37:g.18221249C>A	ENSP00000385025:p.Gln716Lys		Somatic					p.Q716K	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	2626	+			716					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2146C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038515	0.93630	.	.	ENSG00000176994	ENST00000406438	T	0.23950	1.88	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.21245	-1.0251	10	0.59425	D	0.04	-19.7916	20.5827	0.99408	0.0:1.0:0.0:0.0	.	716	Q8TEV9	SMCR8_HUMAN	K	716	ENSP00000385025:Q716K	ENSP00000385025:Q716K	Q	+	1	0	SMCR8	18161974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	CAG		0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		16	46	1	0	4.75885e-15	1	5.12491e-15	16	46				
NDUFAF6	137682	broad.mit.edu	37	8	96064453	96064453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:96064453C>T	ENST00000396124.4	+	8	891	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.Q198*|RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	290					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGCTTTTCTTCAGACGGTAAG	0.348																																						ENST00000396113.1																			0											c.(592-594)Cag>Tag		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							124.0	111.0	115.0					8																	96064453		1835	4085	5920	SO:0001587	stop_gained	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96064453C>T	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.868C>T	8.37:g.96064453C>T	ENSP00000379430:p.Gln290*		Somatic				NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|NDUFAF6_ENST00000396124.4_Nonsense_Mutation_p.Q290*|NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*	p.Q198*			WXS	Illumina GAIIx	Phase_I	Q330K2	CH038_HUMAN			14	1642	+			290					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.592C>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	32	5.193284	0.94960	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124;ENST00000286687	.	.	.	5.64	5.64	0.86602	.	20.480600	0.00166	N	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.8906	7.5839	0.27980	0.1658:0.752:0.0:0.0822	.	.	.	.	X	198;198;238;290;138	.	ENSP00000286687:Q138X	Q	+	1	0	C8orf38	96133629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.430000	0.44766	2.657000	0.90304	0.655000	0.94253	CAG		0.348	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		48	64	0	0	0	1	0	48	64				
NCKAP5L	57701	broad.mit.edu	37	12	50189953	50189953	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr12:50189953G>A	ENST00000335999.6	-	8	1891	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	560	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AAGGTGCTCCGAGAAAGGTCC	0.617																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1690-1692)Cgg>Tgg		NCK-associated protein 5-like							28.0	31.0	30.0					12																	50189953		2064	4191	6255	SO:0001583	missense	57701							g.chr12:50189953G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1690C>T	12.37:g.50189953G>A	ENSP00000337998:p.Arg564Trp		Somatic					p.R564W	NM_001037806.3	NP_001032895.2	WXS	Illumina GAIIx	Phase_I	Q9HCH0	NCK5L_HUMAN			8	1891	-			560			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.1690C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.771135|1.771135	0.31320|0.31320	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.47177|.	0.85|.	4.82|4.82	2.66|2.66	0.31614|0.31614	.|.	0.164213|.	0.29383|.	N|.	0.012313|.	T|T	0.36110|0.36110	0.0955|0.0955	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.68483|.	0.881;0.958|.	T|T	0.34453|0.34453	-0.9828|-0.9828	10|6	0.66056|0.72032	D|D	0.02|0.01	-18.4741|-18.4741	13.6948|13.6948	0.62572|0.62572	0.0:0.0:0.6836:0.3163|0.0:0.0:0.6836:0.3163	.|.	560;560|.	E2QRB5;Q9HCH0-2|.	.;.|.	W|L	564;560|278	ENSP00000337998:R564W|.	ENSP00000337998:R564W|ENSP00000402619:S278L	R|S	-|-	1|2	2|0	NCKAP5L|NCKAP5L	48476220|48476220	0.000000|0.000000	0.05858|0.05858	0.977000|0.977000	0.42913|0.42913	0.784000|0.784000	0.44337|0.44337	-0.029000|-0.029000	0.12329|0.12329	0.579000|0.579000	0.29504|0.29504	-1.367000|-1.367000	0.01198|0.01198	CGG|TCG		0.617	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		16	17	0	0	0	1	0	16	17				
C16orf62	57020	broad.mit.edu	37	16	19621674	19621674	+	Silent	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr16:19621674A>C	ENST00000251143.5	+	12	972	c.960A>C	c.(958-960)acA>acC	p.T320T	C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000543152.1_Silent_p.T69T|C16orf62_ENST00000542263.1_Silent_p.T409T|C16orf62_ENST00000438132.3_Silent_p.T409T|C16orf62_ENST00000417362.2_Silent_p.T320T			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	320						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCCGGTTGACATGCATGATCA	0.522																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1225-1227)acA>acC		chromosome 16 open reading frame 62							106.0	81.0	90.0					16																	19621674		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19621674A>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.960A>C	16.37:g.19621674A>C			Somatic				C16orf62_ENST00000251143.5_Silent_p.T320T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T|C16orf62_ENST00000542263.1_Silent_p.T409T	p.T409T	NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			12	1275	+			320					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.1227A>C																																																																																					0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		13	11	0	0	0	1	0	13	11				
RYR1	6261	broad.mit.edu	37	19	38951204	38951204	+	Silent	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr19:38951204C>T	ENST00000359596.3	+	20	2550	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000355481.4_Silent_p.F850F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	850	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACACCGACTTCGTGCCCTGCC	0.637																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2548-2550)ttC>ttT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						41.0	44.0	43.0					19																	38951204		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38951204C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2550C>T	19.37:g.38951204C>T			Somatic				RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000359596.3_Silent_p.F850F	p.F850F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2681	+	all_cancers(60;7.91e-06)		850			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2550C>T	CCDS33011.1																																																																																				0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			21	46	0	0	0	1	0	21	46				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		4	18	0	0	0	1	0	4	18				
MROH1	727957	broad.mit.edu	37	8	145235339	145235339	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:145235339G>A	ENST00000528919.1	+	6	596	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	MROH1_ENST00000398656.4_Missense_Mutation_p.V159I|MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	159																	GTTCGGCGTAGTCCCCTTCCT	0.692																																						ENST00000528919.1																			0											c.(475-477)Gtc>Atc		maestro heat-like repeat family member 1							97.0	101.0	100.0					8																	145235339		2177	4250	6427	SO:0001583	missense	727957							g.chr8:145235339G>A		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.475G>A	8.37:g.145235339G>A	ENSP00000435565:p.Val159Ile		Somatic				MROH1_ENST00000398656.4_Missense_Mutation_p.V159I|MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I	p.V159I	NM_032450.2	NP_115826	WXS	Illumina GAIIx	Phase_I					6	596	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.475G>A	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239463	0.58995	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.42	3.62	0.41486	Armadillo-type fold (1);	0.000000	0.64402	U	0.000020	T	0.20007	0.0481	M	0.75447	2.3	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.911;0.911;0.972;0.965	D;B;B;D;P	0.74348	0.983;0.232;0.232;0.918;0.856	T	0.01566	-1.1323	10	0.26408	T	0.33	.	10.1834	0.42982	0.1652:0.0:0.8348:0.0	.	159;159;159;159;159	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	159;159;159;159;159;91	ENSP00000388174:V159I;ENSP00000381649:V159I;ENSP00000436636:V159I;ENSP00000435565:V159I;ENSP00000321737:V159I	ENSP00000321737:V159I	V	+	1	0	HEATR7A	145307327	1.000000	0.71417	0.990000	0.47175	0.017000	0.09413	7.060000	0.76692	0.769000	0.33313	-0.258000	0.10820	GTC		0.692	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		61	59	0	0	0	1	0	61	59				
DYNC1I2	1781	broad.mit.edu	37	2	172600667	172600667	+	Silent	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:172600667T>C	ENST00000397119.3	+	16	1812	c.1645T>C	c.(1645-1647)Ttg>Ctg	p.L549L	DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000534253.2_Silent_p.L549L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000409453.1_Silent_p.L549L|DYNC1I2_ENST00000410079.3_Silent_p.L541L	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	549					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CATGGGGAGATTGGATTTGTG	0.368																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1645-1647)Ttg>Ctg		dynein, cytoplasmic 1, intermediate chain 2							72.0	66.0	68.0					2																	172600667		1832	4083	5915	SO:0001819	synonymous_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172600667T>C	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1645T>C	2.37:g.172600667T>C			Somatic				DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000397119.3_Silent_p.L549L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000409453.1_Silent_p.L549L	p.L549L			WXS	Illumina GAIIx	Phase_I	Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		16	1813	+			549					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	ENST00000397119.3	37	c.1645T>C	CCDS46450.1																																																																																				0.368	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		4	21	0	0	0	1	0	4	21				
XKR4	114786	broad.mit.edu	37	8	56015469	56015469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:56015469C>T	ENST00000327381.6	+	1	521	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	141						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTGCGCGGCCAGCGCTGGTG	0.637																																						ENST00000327381.6																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(421-423)Cag>Tag		XK, Kell blood group complex subunit-related family, member 4							59.0	46.0	50.0					8																	56015469		2203	4299	6502	SO:0001587	stop_gained	114786					integral to membrane		g.chr8:56015469C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.421C>T	8.37:g.56015469C>T	ENSP00000328326:p.Gln141*		Somatic					p.Q141*	NM_052898.1	NP_443130.1	WXS	Illumina GAIIx	Phase_I	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	521	+								Q96PZ8	Nonsense_Mutation	SNP	ENST00000327381.6	37	c.421C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.798905	0.98495	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	.	.	.	5.18	5.18	0.71444	.	1.250970	0.05505	N	0.559163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.3005	18.6859	0.91563	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000328326:Q141X	Q	+	1	0	XKR4	56178023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.879000	0.69690	2.406000	0.81754	0.650000	0.86243	CAG		0.637	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		12	91	0	0	0	1	0	12	91				
SLC30A1	7779	broad.mit.edu	37	1	211749275	211749275	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr1:211749275T>C	ENST00000367001.4	-	2	1108	c.979A>G	c.(979-981)Ata>Gta	p.I327V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	327					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TAAAGAAGTATACAAACCATT	0.318																																						ENST00000367001.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(979-981)Ata>Gta		solute carrier family 30 (zinc transporter), member 1							105.0	111.0	109.0					1																	211749275		2203	4300	6503	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749275T>C	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.979A>G	1.37:g.211749275T>C	ENSP00000355968:p.Ile327Val		Somatic					p.I327V	NM_021194.2	NP_067017.2	WXS	Illumina GAIIx	Phase_I	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	1108	-			327					Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.979A>G	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878797	0.72294	.	.	ENSG00000170385	ENST00000367001	T	0.66995	-0.24	5.44	5.44	0.79542	.	0.047895	0.85682	D	0.000000	T	0.75824	0.3902	L	0.45352	1.415	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.75872	-0.3164	10	0.44086	T	0.13	-10.9073	15.4963	0.75653	0.0:0.0:0.0:1.0	.	327	Q9Y6M5	ZNT1_HUMAN	V	327	ENSP00000355968:I327V	ENSP00000355968:I327V	I	-	1	0	SLC30A1	209815898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.748000	0.85085	2.061000	0.61500	0.460000	0.39030	ATA		0.318	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			40	51	0	0	0	1	0	40	51				
PODXL2	50512	broad.mit.edu	37	3	127391153	127391153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:127391153delG	ENST00000342480.6	+	8	1687	c.1648delG	c.(1648-1650)gacfs	p.D550fs	ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	550					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCTGCCACGACAACCCCAC	0.726																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1648-1650)gacfs		podocalyxin-like 2							5.0	7.0	6.0					3																	127391153		1919	3802	5721	SO:0001589	frameshift_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127391153delG	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1648delG	3.37:g.127391153delG	ENSP00000345359:p.Asp550fs		Somatic					p.D550fs	NM_015720.2	NP_056535.1	WXS	Illumina GAIIx	Phase_I	Q9NZ53	PDXL2_HUMAN			8	1687	+			550					Q6UVY4|Q8WUV6	Frame_Shift_Del	DEL	ENST00000342480.6	37	c.1648delG	CCDS3044.1																																																																																				0.726	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		2	4						2	4	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16309149	16309149	+	RNA	DEL	A	A	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:16309149delA	ENST00000573950.1	+	0	434									TAPT1 antisense RNA 1 (head to head)																		GGTGGAGGGGAAAAATGGAGT	0.512																																						ENST00000573950.1																			0																																																			0							g.chr4:16309149delA			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16309149delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	434	+									RNA	DEL	ENST00000573950.1	37																																																																																						0.512	TAPT1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000439458.1	NR_027696		2	4						2	4	---	---	---	---
ZFP62	643836	broad.mit.edu	37	5	180276131	180276131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:180276131delA	ENST00000502412.1	-	2	2421	c.2364delT	c.(2362-2364)gatfs	p.D788fs	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Frame_Shift_Del_p.D728fs|ZFP62_ENST00000512132.1_Frame_Shift_Del_p.D755fs	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	788					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCACACTCATCACATTCAT	0.468																																						ENST00000359141.6																			0				NS(1)|endometrium(2)|pancreas(1)	4						c.(2182-2184)gatfs		ZFP62 zinc finger protein							111.0	92.0	98.0					5																	180276131		692	1591	2283	SO:0001589	frameshift_variant	643836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr5:180276131delA	AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2364delT	5.37:g.180276131delA	ENSP00000423820:p.Asp788fs		Somatic				ZFP62_ENST00000512132.1_Frame_Shift_Del_p.D755fs|ZFP62_ENST00000502412.1_Frame_Shift_Del_p.D788fs|ZFP62_ENST00000506377.1_Intron	p.D728fs	NM_152283.4	NP_689496.4	WXS	Illumina GAIIx	Phase_I	Q8NB50	ZFP62_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2503	-	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	788					B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Frame_Shift_Del	DEL	ENST00000502412.1	37	c.2184delT	CCDS54955.1																																																																																				0.468	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283		2	4						2	4	---	---	---	---
ANKRD6	22881	broad.mit.edu	37	6	90327729	90327737	+	In_Frame_Del	DEL	TCTCCTTAC	TCTCCTTAC	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:90327729_90327737delTCTCCTTAC	ENST00000522441.1	+	9	1412_1420	c.771_779delTCTCCTTAC	c.(769-780)cttctccttact>ctt	p.LLT258del	ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000369408.5_In_Frame_Del_p.LLT258del	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	258					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAGTTGCTCTTCTCCTTACTAAAGCTCCC	0.536																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(769-780)cttctccttact>ctt		ankyrin repeat domain 6																																				SO:0001651	inframe_deletion	22881						protein binding	g.chr6:90327729_90327737delTCTCCTTAC	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.771_779delTCTCCTTAC	6.37:g.90327729_90327737delTCTCCTTAC	ENSP00000430985:p.Leu258_Thr260del		Somatic				ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000522441.1_In_Frame_Del_p.LLT258del	p.LLT258del	NM_001242813.1	NP_001229742.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	9	1120_1128	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	258					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	In_Frame_Del	DEL	ENST00000522441.1	37	c.771_779delTCTCCTTAC	CCDS56441.1																																																																																				0.536	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			32	68						32	68	---	---	---	---
ING3	54556	broad.mit.edu	37	7	120609120	120609121	+	Frame_Shift_Ins	INS	-	-	TAAT			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr7:120609120_120609121insTAAT	ENST00000315870.5	+	9	918_919	c.770_771insTAAT	c.(769-774)aataatfs	p.-258fs	ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GCATTTAAGAATAATGACTTTC	0.342																																						ENST00000315870.5																			0				NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(769-774)aataatfs		inhibitor of growth family, member 3																																				SO:0001589	frameshift_variant	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120609120_120609121insTAAT	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.771_774dupTAAT	7.37:g.120609121_120609124dupTAAT	ENSP00000320566:p.Asn258fs		Somatic				ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	p.-258fs	NM_019071.2	NP_061944.2	WXS	Illumina GAIIx	Phase_I	Q9NXR8	ING3_HUMAN			9	918_919	+	all_neural(327;0.117)							A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Frame_Shift_Ins	INS	ENST00000315870.5	37	c.770_771insTAAT	CCDS5778.1																																																																																				0.342	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		16	44						16	44	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	93518657	93518658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr13:93518657_93518658insT	ENST00000377067.3	+	8	2056_2057	c.1684_1685insT	c.(1684-1686)atafs	p.I562fs		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	562					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTCACTCTGATAAGTGTGGTG	0.446																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1684-1686)atafs		glypican 5																																				SO:0001589	frameshift_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518657_93518658insT	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1685dupT	13.37:g.93518658_93518658dupT	ENSP00000366267:p.Ile562fs		Somatic					p.I562fs	NM_004466.4	NP_004457.1	WXS	Illumina GAIIx	Phase_I	P78333	GPC5_HUMAN			8	2056_2057	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	562					B2R726|O60436|Q9BX27	Frame_Shift_Ins	INS	ENST00000377067.3	37	c.1684_1685insT	CCDS9468.1																																																																																				0.446	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		90	59						90	59	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC			Somatic						NR_027786.1		WXS	Illumina GAIIx	Phase_I					0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		2	4						2	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)	Somatic						NM_018159.3	NP_060629.2	WXS	Illumina GAIIx	Phase_I	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	5						5	5	---	---	---	---
