#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CD1C	911	broad.mit.edu	37	1	158259858	158259858	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:158259858C>A	ENST00000368170.3	+	1	283	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	2					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(4-6)Ctg>Atg		CD1c molecule							154.0	129.0	138.0					1																	158259858		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158259858C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.4C>A	1.37:g.158259858C>A	ENSP00000357152:p.Leu2Met						p.L2M	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			1	283	+	all_hematologic(112;0.0378)		2					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.4C>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.238029	0.22711	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.01234	5.13	2.37	1.46	0.22682	.	0.353403	0.16273	N	0.221669	T	0.02533	0.0077	M	0.84082	2.675	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.38564	-0.9655	10	0.54805	T	0.06	.	5.1188	0.14849	0.0:0.8305:0.0:0.1695	.	2	P29017	CD1C_HUMAN	M	2	ENSP00000357152:L2M	ENSP00000357151:L2M	L	+	1	2	CD1C	156526482	0.557000	0.26546	0.462000	0.27118	0.122000	0.20287	0.177000	0.16801	0.576000	0.29452	0.549000	0.68633	CTG		0.438	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		20	46	1	0	5.26018e-13	1	5.6168e-13	20	46				
ATM	472	broad.mit.edu	37	11	108224576	108224576	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224576G>A	ENST00000452508.2	+	61	8944	c.8755G>A	c.(8755-8757)Ggc>Agc	p.G2919S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2919S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATGGCATGGGCATTACGGG	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8755-8757)Ggc>Agc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212.0	202.0	206.0					11																	108224576		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224576G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8755G>A	11.37:g.108224576G>A	ENSP00000388058:p.Gly2919Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9140	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8755G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670933	0.96754	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94927	0.8079	10	0.87932	D	0	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	2919	Q13315	ATM_HUMAN	S	2919	ENSP00000278616:G2919S;ENSP00000388058:G2919S	ENSP00000278616:G2919S	G	+	1	0	ATM	107729786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.538000	0.85594	0.561000	0.74099	GGC		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	0	0	0	1	0	28	97				
FSCN2	25794	broad.mit.edu	37	17	79496148	79496148	+	Silent	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:79496148C>T	ENST00000417245.2	+	1	727	c.591C>T	c.(589-591)gaC>gaT	p.D197D	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Silent_p.D197D|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	197					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCGCAGCGACGGCCGTCTGG	0.667																																						ENST00000417245.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(589-591)gaC>gaT		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							8.0	11.0	10.0					17																	79496148		2113	4191	6304	SO:0001819	synonymous_variant	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496148C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.591C>T	17.37:g.79496148C>T						FSCN2_ENST00000334850.7_Silent_p.D197D	p.D197D	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	727	+	all_neural(118;0.0878)|Melanoma(429;0.242)		197					A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	c.591C>T	CCDS45811.1																																																																																				0.667	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		3	7	0	0	0	1	0	3	7				
ZFYVE19	84936	broad.mit.edu	37	15	41099524	41099524	+	5'UTR	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:41099524C>T	ENST00000355341.4	+	0	238				DNAJC17_ENST00000220496.4_Intron|ZFYVE19_ENST00000299173.10_5'Flank|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.P13L|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.P13L	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGGAAGGACCGCCAGACCTC	0.632																																						ENST00000336455.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(37-39)cCg>cTg		zinc finger, FYVE domain containing 19							141.0	105.0	118.0					15																	41099524		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84936						zinc ion binding	g.chr15:41099524C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.-264C>T	15.37:g.41099524C>T						DNAJC17_ENST00000220496.4_Intron|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000355341.4_5'UTR|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.P13L	p.P13L	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	93	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	0					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	c.38C>T	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164286	0.21538	.	.	ENSG00000166140	ENST00000336455	T	0.26810	1.71	4.04	1.06	0.20224	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.29912	-0.9996	6	0.87932	D	0	.	2.4819	0.04589	0.3383:0.4012:0.165:0.0955	.	.	.	.	L	13	ENSP00000337824:P13L	ENSP00000337824:P13L	P	+	2	0	ZFYVE19	38886816	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.142000	0.16096	0.268000	0.21939	-0.175000	0.13238	CCG		0.632	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		9	21	0	0	0	1	0	9	21				
NLN	57486	broad.mit.edu	37	5	65077143	65077143	+	Silent	SNP	T	T	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:65077143T>C	ENST00000380985.5	+	6	895	c.717T>C	c.(715-717)taT>taC	p.Y239Y	NLN_ENST00000502464.1_Silent_p.Y135Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	239						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATGACAAGTATAAAATTACCT	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(715-717)taT>taC		neurolysin (metallopeptidase M3 family)							83.0	85.0	84.0					5																	65077143		2203	4298	6501	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077143T>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.717T>C	5.37:g.65077143T>C						NLN_ENST00000502464.1_Silent_p.Y135Y	p.Y239Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	895	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	239					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.717T>C	CCDS3989.1																																																																																				0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			12	52	0	0	0	1	0	12	52				
CDH11	1009	broad.mit.edu	37	16	65022215	65022215	+	Missense_Mutation	SNP	C	C	T	rs367827121		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:65022215C>T	ENST00000268603.4	-	7	1459	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	CDH11_ENST00000566827.1_Missense_Mutation_p.V156I|CDH11_ENST00000394156.3_Missense_Mutation_p.V282I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCCCAGGGACGGCTGCTTCT	0.393			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(844-846)Gtc>Atc		cadherin 11, type 2, OB-cadherin (osteoblast)		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	176.0	161.0	166.0		844	5.7	1.0	16		166	0,8600		0,0,4300	no	missense	CDH11	NM_001797.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	282/797	65022215	1,13005	2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022215C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.844G>A	16.37:g.65022215C>T	ENSP00000268603:p.Val282Ile	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.V156I|CDH11_ENST00000268603.4_Missense_Mutation_p.V282I	p.V282I			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1297	-		Ovarian(137;0.0973)	282			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.844G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940964	0.52972	2.27E-4	0.0	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01745	4.66;4.66	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.25789	0.76	0.58432	D	0.999999	B;B	0.17667	0.023;0.0	B;B	0.09377	0.004;0.001	T	0.58983	-0.7539	10	0.62326	D	0.03	.	18.7081	0.91646	0.0:1.0:0.0:0.0	.	282;282	P55287-2;P55287	.;CAD11_HUMAN	I	282;282;265	ENSP00000268603:V282I;ENSP00000377711:V282I	ENSP00000268603:V282I	V	-	1	0	CDH11	63579716	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	3.978000	0.56881	2.665000	0.90641	0.650000	0.86243	GTC		0.393	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		9	72	0	0	0	1	0	9	72				
EHHADH	1962	broad.mit.edu	37	3	184910915	184910915	+	Missense_Mutation	SNP	C	C	T	rs202021589		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:184910915C>T	ENST00000231887.3	-	7	1346	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	EHHADH_ENST00000456310.1_Missense_Mutation_p.R328H|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	424	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CAAGTGAGGACGATCAGTGGA	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1270-1272)cGt>cAt		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	139.0	131.0	133.0		983,1271	4.1	0.3	3		133	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	328/628,424/724	184910915	4,13002	2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910915C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1271G>A	3.37:g.184910915C>T	ENSP00000231887:p.Arg424His					EHHADH_ENST00000456310.1_Missense_Mutation_p.R328H	p.R424H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1346	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		424			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1271G>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893302	0.33442	0.0	4.65E-4	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.78246	-1.16;-1.16	6.08	4.08	0.47627	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.202789	0.43416	D	0.000569	T	0.66867	0.2833	L	0.35593	1.075	0.26413	N	0.976231	B	0.27997	0.197	B	0.22880	0.042	T	0.64179	-0.6468	10	0.72032	D	0.01	-8.9946	12.3076	0.54910	0.0:0.824:0.0:0.176	.	424	Q08426	ECHP_HUMAN	H	424;424;328	ENSP00000231887:R424H;ENSP00000387746:R328H	ENSP00000231887:R424H	R	-	2	0	EHHADH	186393609	0.032000	0.19561	0.317000	0.25265	0.948000	0.59901	1.407000	0.34657	1.586000	0.49944	0.591000	0.81541	CGT		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			19	60	0	0	0	1	0	19	60				
ZNF319	57567	broad.mit.edu	37	16	58030795	58030795	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:58030795G>A	ENST00000299237.2	-	2	1997	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGCGTGCAGCGCAGGGGCTTC	0.662																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1375-1377)Cgc>Tgc		zinc finger protein 319							20.0	22.0	21.0					16																	58030795		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030795G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1375C>T	16.37:g.58030795G>A	ENSP00000299237:p.Arg459Cys						p.R459C	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1997	-			459					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1375C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922538	0.52653	.	.	ENSG00000166188	ENST00000299237	T	0.44083	0.93	5.07	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.118187	0.51477	D	0.000087	T	0.53786	0.1818	L	0.52011	1.625	0.49389	D	0.999784	D	0.89917	1.0	D	0.63033	0.91	T	0.57225	-0.7848	10	0.87932	D	0	-35.2385	12.4054	0.55436	0.0:0.0:0.7561:0.2439	.	459	Q9P2F9	ZN319_HUMAN	C	459	ENSP00000299237:R459C	ENSP00000299237:R459C	R	-	1	0	ZNF319	56588296	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.483000	0.60264	2.353000	0.79882	0.561000	0.74099	CGC		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	8	0	0	0	1	0	3	8				
MUC17	140453	broad.mit.edu	37	7	100685726	100685726	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:100685726G>T	ENST00000306151.4	+	3	11093	c.11029G>T	c.(11029-11031)Gtg>Ttg	p.V3677L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3677	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCATCTCCTGTGACTCCTGA	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11029-11031)Gtg>Ttg		mucin 17, cell surface associated							203.0	187.0	192.0					7																	100685726		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685726G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11029G>T	7.37:g.100685726G>T	ENSP00000302716:p.Val3677Leu						p.V3677L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11093	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3677			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11029G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.038	0.375360	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.43314	0.803	P	0.44477	0.451	T	0.29792	-1.0000	9	0.23302	T	0.38	.	0.8038	0.01080	0.23:0.2017:0.3671:0.2012	.	3677	Q685J3	MUC17_HUMAN	L	3677	ENSP00000302716:V3677L	ENSP00000302716:V3677L	V	+	1	0	MUC17	100472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.655000	0.01982	-1.799000	0.01248	-1.453000	0.01033	GTG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		43	94	1	0	6.21074e-16	1	6.8645e-16	43	94				
ZBTB39	9880	broad.mit.edu	37	12	57398256	57398256	+	Missense_Mutation	SNP	G	G	A	rs555217500		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr12:57398256G>A	ENST00000300101.2	-	2	531	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGTTCTGCCGAAGGACAACT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.001					ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(445-447)tCg>tTg		zinc finger and BTB domain containing 39							86.0	86.0	86.0					12																	57398256		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398256G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.446C>T	12.37:g.57398256G>A	ENSP00000300101:p.Ser149Leu						p.S149L	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	531	-			149					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.446C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	2.804	-0.248530	0.05867	.	.	ENSG00000166860	ENST00000300101	T	0.09350	2.99	5.54	4.66	0.58398	.	0.454178	0.21541	N	0.072885	T	0.06600	0.0169	N	0.14661	0.345	0.22435	N	0.999106	B	0.30114	0.269	B	0.23716	0.048	T	0.33266	-0.9875	10	0.29301	T	0.29	-2.7377	12.4029	0.55422	0.0805:0.0:0.9195:0.0	.	149	O15060	ZBT39_HUMAN	L	149	ENSP00000300101:S149L	ENSP00000300101:S149L	S	-	2	0	ZBTB39	55684523	0.892000	0.30473	0.094000	0.20943	0.032000	0.12392	2.693000	0.47027	1.584000	0.49913	-0.137000	0.14449	TCG		0.577	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		11	74	0	0	0	1	0	11	74				
NMU	10874	broad.mit.edu	37	4	56471442	56471442	+	Splice_Site	SNP	G	G	A	rs141279583		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:56471442G>A	ENST00000264218.3	-	7	540	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NMU_ENST00000505262.1_Splice_Site_p.D118D|NMU_ENST00000511469.1_Splice_Site_p.D129D|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000507338.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	145					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TATTACATACGTCCACTCTGA	0.493																																						ENST00000264218.3																			0				lung(3)|ovary(1)|urinary_tract(1)	5						c.e7+1		neuromedin U		G		0,4406		0,0,2203	154.0	133.0	140.0		435	2.2	0.1	4	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	NMU	NM_006681.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		145/175	56471442	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56471442G>A	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.435+1C>T	4.37:g.56471442G>A						NMU_ENST00000505262.1_Splice_Site_p.D118_splice|NMU_ENST00000507338.1_Intron|NMU_ENST00000511469.1_Splice_Site_p.D129_splice|NMU_ENST00000515325.1_5'UTR	p.D145_splice	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	7	540	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	145						Splice_Site	SNP	ENST00000264218.3	37	c.435_splice	CCDS3501.1																																																																																				0.493	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		Silent	8	46	0	0	0	1	0	8	46				
UBXN2B	137886	broad.mit.edu	37	8	59359995	59359995	+	Missense_Mutation	SNP	C	C	T	rs565655095		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr8:59359995C>T	ENST00000399598.2	+	8	1003	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	294	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTGAATTTGCGGCTCTTGAC	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		14699	0.001		0.0	False		,,,				2504	0.0					ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(880-882)gCg>gTg		UBX domain protein 2B							102.0	89.0	93.0					8																	59359995		1825	4087	5912	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59359995C>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.881C>T	8.37:g.59359995C>T	ENSP00000382507:p.Ala294Val						p.A294V	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			8	1003	+			294			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.881C>T	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704782	0.88924	.	.	ENSG00000215114	ENST00000399598	T	0.44482	0.92	6.08	6.08	0.98989	UBX (3);	0.000000	0.44483	U	0.000449	T	0.65831	0.2729	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.64050	-0.6498	10	0.54805	T	0.06	-2.5386	18.844	0.92196	0.0:1.0:0.0:0.0	.	294	Q14CS0	UBX2B_HUMAN	V	294	ENSP00000382507:A294V	ENSP00000382507:A294V	A	+	2	0	UBXN2B	59522549	1.000000	0.71417	0.972000	0.41901	0.393000	0.30537	6.947000	0.75959	2.894000	0.99253	0.655000	0.94253	GCG		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		4	121	0	0	0	1	0	4	121				
GPR4	2828	broad.mit.edu	37	19	46094786	46094786	+	Silent	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:46094786C>A	ENST00000323040.4	-	2	1283	c.339G>T	c.(337-339)gtG>gtT	p.V113V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTAGCGGTCCACCGAGATGC	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(337-339)gtG>gtT		G protein-coupled receptor 4							74.0	77.0	76.0					19																	46094786		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094786C>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.339G>T	19.37:g.46094786C>A						OPA3_ENST00000544371.1_Intron	p.V113V	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1283	-			113					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.339G>T	CCDS12669.1																																																																																				0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		3	32	1	0	1	1	1	3	32				
UBASH3B	84959	broad.mit.edu	37	11	122650305	122650305	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:122650305C>T	ENST00000284273.5	+	4	878	c.503C>T	c.(502-504)aCg>aTg	p.T168M		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	168					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAGCTCTATACGTCGTCCAAC	0.572																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(502-504)aCg>aTg		ubiquitin associated and SH3 domain containing B							100.0	94.0	96.0					11																	122650305		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122650305C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.503C>T	11.37:g.122650305C>T	ENSP00000284273:p.Thr168Met						p.T168M	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	4	878	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	168					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.503C>T	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046143	0.75846	.	.	ENSG00000154127	ENST00000284273	T	0.42900	0.96	5.02	5.02	0.67125	.	0.159390	0.56097	D	0.000029	T	0.41026	0.1141	L	0.32530	0.975	0.43003	D	0.99452	D	0.55605	0.972	P	0.49999	0.628	T	0.35943	-0.9768	10	0.62326	D	0.03	-12.7561	11.7961	0.52100	0.0:0.9196:0.0:0.0804	.	168	Q8TF42	UBS3B_HUMAN	M	168	ENSP00000284273:T168M	ENSP00000284273:T168M	T	+	2	0	UBASH3B	122155515	0.999000	0.42202	0.992000	0.48379	0.953000	0.61014	4.093000	0.57714	2.326000	0.78906	0.650000	0.86243	ACG		0.572	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		30	31	0	0	0	1	0	30	31				
ATP6V1C2	245973	broad.mit.edu	37	2	10915197	10915197	+	Splice_Site	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:10915197T>A	ENST00000272238.4	+	10	934	c.825T>A	c.(823-825)taT>taA	p.Y275*	ATP6V1C2_ENST00000381661.3_Splice_Site_p.Y275*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	275					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGCAACAGTATGTGAGTATGT	0.498																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e10+1		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							144.0	145.0	145.0					2																	10915197		2203	4300	6503	SO:0001630	splice_region_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10915197T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.825+1T>A	2.37:g.10915197T>A						ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275_splice	p.Y275_splice	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	10	934	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		275					Q96EL8	Splice_Site	SNP	ENST00000272238.4	37	c.825_splice	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445935	0.84101	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.46	4.3	0.51218	.	0.133396	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.6702	11.4521	0.50158	0.0:0.071:0.0:0.929	.	.	.	.	X	275	.	ENSP00000272238:Y275X	Y	+	3	2	ATP6V1C2	10832648	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	4.285000	0.58989	0.914000	0.36822	0.402000	0.26972	TAT		0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	Nonsense_Mutation	11	32	0	0	0	1	0	11	32				
BICD2	23299	broad.mit.edu	37	9	95485027	95485027	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:95485027G>A	ENST00000375512.3	-	3	584	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	BICD2_ENST00000356884.6_Missense_Mutation_p.R173W	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	173					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGCTTCCCGGAATTTGTAC	0.557																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(517-519)Cgg>Tgg		bicaudal D homolog 2 (Drosophila)							122.0	105.0	111.0					9																	95485027		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95485027G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.517C>T	9.37:g.95485027G>A	ENSP00000364662:p.Arg173Trp					BICD2_ENST00000375512.3_Missense_Mutation_p.R173W	p.R173W	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			3	584	-			173					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.517C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354522	0.82243	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.59502	0.26;0.26	4.66	3.71	0.42584	.	0.137211	0.49305	D	0.000153	T	0.75064	0.3799	M	0.83223	2.63	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.71870	0.958;0.975	T	0.79420	-0.1811	10	0.87932	D	0	-38.7002	12.555	0.56248	0.0:0.0:0.8338:0.1662	.	173;173	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	W	173	ENSP00000349351:R173W;ENSP00000364662:R173W	ENSP00000349351:R173W	R	-	1	2	BICD2	94524848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.384000	0.44362	2.319000	0.78375	0.561000	0.74099	CGG		0.557	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	38	0	0	0	1	0	13	38				
GOSR1	9527	broad.mit.edu	37	17	28808252	28808252	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:28808252T>A	ENST00000225724.5	+	2	195	c.123T>A	c.(121-123)agT>agA	p.S41R	GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000579905.1_3'UTR	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	41					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GTCATAGCAGTACCCGAGATG	0.373																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(121-123)agT>agA		golgi SNAP receptor complex member 1							110.0	109.0	109.0					17																	28808252		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28808252T>A	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.123T>A	17.37:g.28808252T>A	ENSP00000225724:p.Ser41Arg					GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R	p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			2	195	+			41					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.123T>A	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628679	0.46944	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.83	3.59	0.41128	.	0.197717	0.64402	D	0.000007	T	0.48241	0.1489	L	0.56769	1.78	0.42835	D	0.994039	B;B;B	0.23249	0.0;0.0;0.082	B;B;B	0.20577	0.003;0.002;0.03	T	0.32798	-0.9893	9	0.24483	T	0.36	-3.1248	7.2851	0.26333	0.0:0.4174:0.0:0.5826	.	41;41;41	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	R	41	.	ENSP00000225724:S41R	S	+	3	2	GOSR1	25832378	0.395000	0.25254	0.670000	0.29842	0.967000	0.64934	0.701000	0.25616	0.477000	0.27464	0.459000	0.35465	AGT		0.373	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			23	82	0	0	0	1	0	23	82				
SLTM	79811	broad.mit.edu	37	15	59186350	59186350	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186350C>T	ENST00000380516.2	-	11	1507	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	SLTM_ENST00000536328.1_Missense_Mutation_p.D43N|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTTTCATCATTTTCTTTC	0.284																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1420-1422)Gat>Aat		SAFB-like, transcription modulator							86.0	83.0	84.0					15																	59186350		2190	4291	6481	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186350C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1420G>A	15.37:g.59186350C>T	ENSP00000369887:p.Asp474Asn					SLTM_ENST00000536328.1_Missense_Mutation_p.D43N	p.D474N	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1507	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1420G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304423	0.81136	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D	0.89617	-2.54	5.46	5.46	0.80206	.	0.109608	0.40144	N	0.001180	D	0.88325	0.6406	L	0.32530	0.975	0.80722	D	1	P;P	0.50156	0.877;0.932	B;P	0.49192	0.417;0.602	D	0.89002	0.3422	10	0.54805	T	0.06	.	19.2976	0.94129	0.0:1.0:0.0:0.0	.	474;43	Q9NWH9;A8K5V8	SLTM_HUMAN;.	N	474;67;43;456	ENSP00000369887:D474N	ENSP00000249736:D456N	D	-	1	0	SLTM	56973642	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.184000	0.77705	2.547000	0.85894	0.650000	0.86243	GAT		0.284	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	21	0	0	0	1	0	8	21				
RAPGEF6	51735	broad.mit.edu	37	5	130841188	130841188	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:130841188C>T	ENST00000509018.1	-	10	1175	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G324S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G324S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.G374S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G324S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.G39S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	324					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCACAGTGCCGTTTAAAATA	0.323																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(970-972)Ggc>Agc		Rap guanine nucleotide exchange factor (GEF) 6							68.0	65.0	66.0					5																	130841188		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130841188C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.970G>A	5.37:g.130841188C>T	ENSP00000421684:p.Gly324Ser					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G324S|FNIP1_ENST00000514667.1_Missense_Mutation_p.G374S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G324S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.G39S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G324S	p.G324S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	10	1175	-			324					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.970G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313123	0.95655	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000514667	D;D;D;D;D;D;D;D;D	0.99822	-6.33;-6.33;-6.33;-6.33;-6.94;-6.33;-6.33;-6.33;-6.33	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97090	0.9790	10	0.87932	D	0	.	19.7725	0.96373	0.0:1.0:0.0:0.0	.	324;324;324;39;374;324;324	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	324;324;324;324;324;39;324;324;152;374	ENSP00000421684:G324S;ENSP00000309298:G324S;ENSP00000426081:G324S;ENSP00000296859:G324S;ENSP00000426910:G39S;ENSP00000311419:G324S;ENSP00000425389:G324S;ENSP00000424574:G152S;ENSP00000426948:G374S	ENSP00000426948:G374S	G	-	1	0	RAPGEF6;FNIP1	130869087	1.000000	0.71417	0.969000	0.41365	0.921000	0.55340	7.818000	0.86416	2.673000	0.90976	0.467000	0.42956	GGC		0.323	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		14	37	0	0	0	1	0	14	37				
UNC79	57578	broad.mit.edu	37	14	94008906	94008906	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr14:94008906T>A	ENST00000393151.2	+	14	1619	c.1619T>A	c.(1618-1620)aTg>aAg	p.M540K	UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000553484.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	540					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGCGTATATGATGGATGAT	0.512																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1618-1620)aTg>aAg		unc-79 homolog (C. elegans)							212.0	164.0	180.0					14																	94008906		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94008906T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1619T>A	14.37:g.94008906T>A	ENSP00000376858:p.Met540Lys					UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K	p.M540K			Q9P2D8	UNC79_HUMAN			14	1773	+			540					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	28.4	4.917074	0.92249	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.36672	1.1	0.58432	D	0.999998	P	0.48998	0.918	P	0.61132	0.884	T	0.00928	-1.1511	10	0.41790	T	0.15	-29.602	16.1512	0.81624	0.0:0.0:0.0:1.0	.	540	C9JQL1	.	K	363;540;540;540;540	ENSP00000256339:M363K;ENSP00000450868:M540K;ENSP00000451360:M540K;ENSP00000376858:M540K	ENSP00000256339:M363K	M	+	2	0	KIAA1409	93078659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.000000	0.88501	2.204000	0.70986	0.528000	0.53228	ATG		0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	107	0	0	0	1	0	14	107				
PLXND1	23129	broad.mit.edu	37	3	129290379	129290379	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:129290379G>A	ENST00000324093.4	-	17	3487	c.3309C>T	c.(3307-3309)gcC>gcT	p.A1103A	PLXND1_ENST00000393239.1_Silent_p.A1103A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1103	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1103A(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTGGTGGACGGCCATGGACA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	1	Substitution - coding silent(1)	p.A1103A(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3307-3309)gcC>gcT		plexin D1							52.0	54.0	53.0					3																	129290379		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290379G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3309C>T	3.37:g.129290379G>A						PLXND1_ENST00000324093.4_Silent_p.A1103A	p.A1103A			Q9Y4D7	PLXD1_HUMAN			17	3487	-			1103			IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3309C>T	CCDS33854.1																																																																																				0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		16	44	0	0	0	1	0	16	44				
HSPA12A	259217	broad.mit.edu	37	10	118460629	118460629	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr10:118460629C>T	ENST00000369209.3	-	4	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	89						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGGGTCACCTCCCTCCCATCG	0.527																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(265-267)gGa>gAa		heat shock 70kDa protein 12A							71.0	74.0	73.0					10																	118460629		2075	4220	6295	SO:0001583	missense	259217						ATP binding	g.chr10:118460629C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.266G>A	10.37:g.118460629C>T	ENSP00000358211:p.Gly89Glu						p.G89E	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	370	-			89						Missense_Mutation	SNP	ENST00000369209.3	37	c.266G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009595	0.93346	.	.	ENSG00000165868	ENST00000369209	T	0.53423	0.62	5.62	5.62	0.85841	.	0.096661	0.64402	D	0.000001	T	0.67078	0.2855	M	0.87097	2.86	0.80722	D	1	P	0.42409	0.779	P	0.48704	0.587	T	0.72858	-0.4165	10	0.87932	D	0	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	89	O43301	HS12A_HUMAN	E	89	ENSP00000358211:G89E	ENSP00000358211:G89E	G	-	2	0	HSPA12A	118450619	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GGA		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		17	48	0	0	0	1	0	17	48				
LILRA6	79168	broad.mit.edu	37	19	54745451	54745451	+	Splice_Site	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:54745451C>A	ENST00000396365.2	-	4	698		c.e4+1		LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Splice_Site	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCCCTCACCTGAGGGCAG	0.572																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.e4+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							36.0	40.0	39.0					19																	54745451		1646	3666	5312	SO:0001630	splice_region_variant	79168							g.chr19:54745451C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.658+1G>T	19.37:g.54745451C>A						LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site							GBM - Glioblastoma multiforme(193;0.105)	4	707	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308140	0.23821	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3675	0.32395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRA6	59437263	0.541000	0.26417	0.809000	0.32408	0.151000	0.21798	1.469000	0.35343	1.656000	0.50722	0.162000	0.16502	.		0.572	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	Intron	14	41	1	0	5.03518e-11	1	5.28694e-11	14	41				
RNF220	55182	broad.mit.edu	37	1	44877961	44877961	+	Silent	SNP	C	C	T	rs183301724	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:44877961C>T	ENST00000355387.2	+	2	642	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N			Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTCACCAACGGTTCCTATA	0.547													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21724	0.0		0.0	False		,,,				2504	0.0					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(190-192)aaC>aaT		ring finger protein 220		C		0,4406		0,0,2203	302.0	289.0	293.0		192	-4.3	1.0	1		293	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF220	NM_018150.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/567	44877961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877961C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.192C>T	1.37:g.44877961C>T						RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N	p.N64N			Q5VTB9	RN220_HUMAN			2	642	+			64					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.192C>T	CCDS510.1																																																																																				0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		78	244	0	0	0	1	0	78	244				
C15orf39	56905	broad.mit.edu	37	15	75501073	75501073	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:75501073G>A	ENST00000360639.2	+	2	3004	c.2684G>A	c.(2683-2685)cGc>cAc	p.R895H	C15orf39_ENST00000567617.1_Missense_Mutation_p.R895H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895H|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	895						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCACCTCACGCATGCTGAAG	0.672																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2683-2685)cGc>cAc		chromosome 15 open reading frame 39							25.0	23.0	24.0					15																	75501073		2197	4293	6490	SO:0001583	missense	56905							g.chr15:75501073G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2684G>A	15.37:g.75501073G>A	ENSP00000353854:p.Arg895His					C15orf39_ENST00000567617.1_Missense_Mutation_p.R895H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895H	p.R895H			Q6ZRI6	CO039_HUMAN			2	3004	+			895					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2684G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512585	0.64522	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.29655	1.56;1.56	5.29	5.29	0.74685	.	0.114959	0.56097	D	0.000032	T	0.54711	0.1875	M	0.64997	1.995	0.40938	D	0.984449	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58549	-0.7617	10	0.87932	D	0	-26.1361	17.5081	0.87752	0.0:0.0:1.0:0.0	.	457;895	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	H	895;895;293	ENSP00000353854:R895H;ENSP00000378438:R895H	ENSP00000353854:R895H	R	+	2	0	C15orf39	73288126	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	4.631000	0.61304	2.480000	0.83734	0.561000	0.74099	CGC		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		8	23	0	0	0	1	0	8	23				
ATM	472	broad.mit.edu	37	11	108224578	108224578	+	Silent	SNP	C	C	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224578C>G	ENST00000452508.2	+	61	8946	c.8757C>G	c.(8755-8757)ggC>ggG	p.G2919G	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.G2919G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGCATGGGCATTACGGGTG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8755-8757)ggC>ggG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212.0	202.0	206.0					11																	108224578		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224578C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8757C>G	11.37:g.108224578C>G		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919G	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9142	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8757C>G	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	0	0	0	1	0	28	97				
LSS	4047	broad.mit.edu	37	21	47615597	47615597	+	Nonsense_Mutation	SNP	G	G	A	rs369619415		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr21:47615597G>A	ENST00000397728.3	-	19	1888	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	LSS_ENST00000356396.4_Nonsense_Mutation_p.R604*|LSS_ENST00000522411.1_Nonsense_Mutation_p.R593*|AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000457828.2_Nonsense_Mutation_p.R524*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	604					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CACCCATCTCGGTAGGTCTGC	0.557																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1810-1812)Cga>Tga		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	111.0	116.0		1810,1777,1570,1810	-2.2	0.0	21		116	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	604/733,593/722,524/653,604/733	47615597	1,13005	2203	4300	6503	SO:0001587	stop_gained	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47615597G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1810C>T	21.37:g.47615597G>A	ENSP00000380837:p.Arg604*					LSS_ENST00000522411.1_Nonsense_Mutation_p.R593*|LSS_ENST00000457828.2_Nonsense_Mutation_p.R524*|LSS_ENST00000356396.4_Nonsense_Mutation_p.R604*	p.R604*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			19	1888	-	Breast(49;0.214)		604					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Nonsense_Mutation	SNP	ENST00000397728.3	37	c.1810C>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.260933	0.97421	2.27E-4	0.0	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	.	.	.	5.61	-2.25	0.06888	.	1.352720	0.04330	N	0.352151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	2.0186	0.03504	0.1979:0.0965:0.3506:0.355	.	.	.	.	X	604;524;604;593	.	ENSP00000348762:R604X	R	-	1	2	LSS	46440025	0.004000	0.15560	0.009000	0.14445	0.010000	0.07245	-0.020000	0.12525	-0.168000	0.10853	-0.137000	0.14449	CGA		0.557	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	64	0	0	0	1	0	4	64				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	159	0	0	0	1	0	5	159				
CCDC85A	114800	broad.mit.edu	37	2	56420172	56420172	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:56420172G>A	ENST00000407595.2	+	2	1339	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACCTAGCCCGGAGCACCACA	0.637																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(835-837)ccG>ccA		coiled-coil domain containing 85A							55.0	70.0	65.0					2																	56420172		2041	4192	6233	SO:0001819	synonymous_variant	114800							g.chr2:56420172G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.837G>A	2.37:g.56420172G>A						RP11-482H16.1_ENST00000607540.1_RNA	p.P279P	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1339	+			279			His-rich.			Silent	SNP	ENST00000407595.2	37	c.837G>A	CCDS46290.1																																																																																				0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			18	41	0	0	0	1	0	18	41				
DCDC2B	149069	broad.mit.edu	37	1	32674910	32674910	+	Silent	SNP	G	G	A	rs551185618		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:32674910G>A	ENST00000409358.1	+	1	216	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	72	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGACTTGAAGAACAGAGGGC	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0					ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(214-216)aaG>aaA		doublecortin domain containing 2B							96.0	100.0	99.0					1																	32674910		2074	4204	6278	SO:0001819	synonymous_variant	149069				intracellular signal transduction			g.chr1:32674910G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.216G>A	1.37:g.32674910G>A							p.K72K	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			1	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	72			Doublecortin 1.		B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.216G>A	CCDS44100.1																																																																																				0.582	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		22	53	0	0	0	1	0	22	53				
SCYL1	57410	broad.mit.edu	37	11	65302785	65302785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:65302785G>T	ENST00000270176.5	+	10	1395	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000524944.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	440					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GGCCAAGGATGAACAGGGCCC	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1318-1320)Gaa>Taa		SCY1-like 1 (S. cerevisiae)							120.0	126.0	124.0					11																	65302785		2164	4257	6421	SO:0001587	stop_gained	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302785G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1318G>T	11.37:g.65302785G>T	ENSP00000270176:p.Glu440*					SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000527630.1_Nonsense_Mutation_p.E440*	p.E440*			Q96KG9	NTKL_HUMAN			10	1351	+			440					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	ENST00000270176.5	37	c.1318G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041539	0.93685	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	.	.	.	4.64	4.64	0.57946	.	0.342689	0.31601	N	0.007380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4666	14.9939	0.71415	0.0:0.0:1.0:0.0	.	.	.	.	X	440;440;440;440;440;440;440;440;297	.	ENSP00000270176:E440X	E	+	1	0	SCYL1	65059361	1.000000	0.71417	0.876000	0.34364	0.888000	0.51559	6.804000	0.75186	2.138000	0.66242	0.313000	0.20887	GAA		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		17	63	1	0	2.37509e-13	1	2.57984e-13	17	63				
OR10R2	343406	broad.mit.edu	37	1	158450686	158450686	+	IGR	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:158450686C>A	ENST00000368152.1	+	0	1008				RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AATATTATTACATTTTAGATT	0.299																																						ENST00000419738.1																			0																				12.0	13.0	13.0					1																	158450686		2166	4271	6437	SO:0001628	intergenic_variant	0							g.chr1:158450686C>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632		1.37:g.158450686C>A						RP11-144L1.4_ENST00000426251.1_RNA								0	1391	-								Q5VWM8|Q6IFS1|Q96R61	RNA	SNP	ENST00000368152.1	37		CCDS30898.1																																																																																				0.299	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		8	18	1	0	0.0381472	1	0.0387625	8	18				
CPA2	1358	broad.mit.edu	37	7	129929484	129929484	+	Missense_Mutation	SNP	G	G	A	rs146602328	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:129929484G>A	ENST00000222481.4	+	11	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	386					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GACACAGGGCGCTACGGCTTC	0.542													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.0					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1156-1158)cGc>cAc		carboxypeptidase A2 (pancreatic)		G	HIS/ARG	27,4379	33.5+/-64.1	0,27,2176	136.0	119.0	124.0		1157	0.1	0.0	7	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPA2	NM_001869.2	29	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	benign	386/420	129929484	29,12977	2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929484G>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1157G>A	7.37:g.129929484G>A	ENSP00000222481:p.Arg386His						p.R386H	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1212	+	Melanoma(18;0.0435)		386					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1157G>A	CCDS5817.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.33	1.606654	0.28623	0.006128	2.33E-4	ENSG00000158516	ENST00000222481	T	0.11063	2.81	5.13	0.0599	0.14334	Peptidase M14, carboxypeptidase A (2);	0.952399	0.08703	N	0.906084	T	0.07098	0.0180	L	0.53561	1.675	0.31627	N	0.649525	B	0.12630	0.006	B	0.11329	0.006	T	0.28870	-1.0030	10	0.32370	T	0.25	.	4.8562	0.13561	0.2129:0.0:0.5308:0.2563	.	386	P48052	CBPA2_HUMAN	H	386	ENSP00000222481:R386H	ENSP00000222481:R386H	R	+	2	0	CPA2	129716720	0.002000	0.14202	0.003000	0.11579	0.614000	0.37383	0.649000	0.24843	-0.304000	0.08843	0.561000	0.74099	CGC		0.542	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		9	65	0	0	0	1	0	9	65				
CPNE5	57699	broad.mit.edu	37	6	36767773	36767773	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr6:36767773G>A	ENST00000244751.2	-	4	882	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	86	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTTCTCCTCGAAAAAGTAAT	0.517																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(256-258)ttC>ttT		copine V							95.0	82.0	86.0					6																	36767773		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36767773G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.258C>T	6.37:g.36767773G>A							p.F86F	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			4	882	-			86			C2 1.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.258C>T	CCDS4825.1																																																																																				0.517	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		9	33	0	0	0	1	0	9	33				
FBXW10	10517	broad.mit.edu	37	17	18651256	18651256	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:18651256C>T	ENST00000395665.4	+	2	729	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FBXW10_ENST00000308799.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	170										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTTCAGGGCTCAATCAAGA	0.443																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(508-510)Ctc>Ttc		F-box and WD repeat domain containing 10							46.0	47.0	47.0					17																	18651256		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18651256C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.508C>T	17.37:g.18651256C>T	ENSP00000379025:p.Leu170Phe					FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F	p.L170F			Q5XX13	FBW10_HUMAN			2	727	+			170					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.508C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	5.028	0.190869	0.09547	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.08	-0.15	0.13416	WD40/YVTN repeat-like-containing domain (1);	0.137344	0.46758	U	0.000261	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.20671	0.021;0.021;0.022;0.047	B;B;B;B	0.18263	0.021;0.021;0.018;0.021	T	0.17806	-1.0357	10	0.14656	T	0.56	.	2.4718	0.04566	0.2903:0.5287:0.0:0.1809	.	170;170;170;170	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	170	ENSP00000379026:L170F;ENSP00000310382:L170F;ENSP00000306937:L170F;ENSP00000379025:L170F	ENSP00000306937:L170F	L	+	1	0	FBXW10	18591981	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.341000	0.07811	0.000000	0.14550	0.405000	0.27470	CTC		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	63	0	0	0	1	0	7	63				
SP2	6668	broad.mit.edu	37	17	46002397	46002397	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:46002397G>A	ENST00000376741.4	+	5	1622	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	495					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GAGAGACCCAGCCCGGGGAGA	0.602																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1483-1485)caG>caA		Sp2 transcription factor							43.0	47.0	45.0					17																	46002397		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002397G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1485G>A	17.37:g.46002397G>A						AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	p.Q495Q	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			5	1622	+			495					A6NK74	Silent	SNP	ENST00000376741.4	37	c.1485G>A	CCDS11521.2																																																																																				0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	39	0	0	0	1	0	13	39				
ZNF512B	57473	broad.mit.edu	37	20	62597977	62597977	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr20:62597977C>T	ENST00000450537.1	-	5	611	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184Q|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCAACAGGCCGGCTGATGGT	0.597																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(550-552)cGg>cAg		zinc finger protein 512B							69.0	71.0	70.0					20																	62597977		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597977C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.551G>A	20.37:g.62597977C>T	ENSP00000393795:p.Arg184Gln					ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184Q|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184Q	p.R184Q			Q96KM6	Z512B_HUMAN			5	611	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		184					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.551G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945601	0.73672	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.23147	1.92;1.92;1.92	5.67	3.54	0.40534	.	0.316289	0.22973	N	0.053408	T	0.12475	0.0303	L	0.37630	1.12	0.29204	N	0.875005	P	0.43352	0.804	B	0.28011	0.085	T	0.09840	-1.0656	10	0.11794	T	0.64	-16.5295	7.8744	0.29584	0.0:0.761:0.0:0.239	.	184	Q96KM6	Z512B_HUMAN	Q	184	ENSP00000358904:R184Q;ENSP00000393795:R184Q;ENSP00000217130:R184Q	ENSP00000217130:R184Q	R	-	2	0	ZNF512B	62068421	0.040000	0.19996	0.998000	0.56505	0.960000	0.62799	-0.265000	0.08644	1.409000	0.46915	0.585000	0.79938	CGG		0.597	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		5	71	0	0	0	1	0	5	71				
MAP3K15	389840	broad.mit.edu	37	X	19413307	19413307	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chrX:19413307C>T	ENST00000338883.4	-	16	2085	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.E131K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E528K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	696	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E743*(1)|p.E171*(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTATCTCCTCGTGCAGAGGC	0.507													c|||	1	0.000264901	0.0	0.0	3775	,	,		13264	0.0		0.0	False		,,,				2504	0.001					ENST00000338883.4																			2	Substitution - Nonsense(2)	p.E743*(1)|p.E171*(1)	prostate(2)	NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2086-2088)Gag>Aag		mitogen-activated protein kinase kinase kinase 15							148.0	128.0	135.0					X																	19413307		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19413307C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2086G>A	X.37:g.19413307C>T	ENSP00000345629:p.Glu696Lys					MAP3K15_ENST00000469203.2_Missense_Mutation_p.E528K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E131K	p.E696K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			16	2085	-	Hepatocellular(33;0.183)		696			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2086G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.742723	0.89573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.23552	1.9;1.9;1.9	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	N	0.16066	0.365	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59115	0.852;0.833	T	0.16100	-1.0414	10	0.52906	T	0.07	.	19.2177	0.93785	0.0:1.0:0.0:0.0	.	171;696	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	K	696;131;528	ENSP00000345629:E696K;ENSP00000352093:E131K;ENSP00000428356:E528K	ENSP00000345629:E696K	E	-	1	0	MAP3K15	19323228	1.000000	0.71417	0.719000	0.30619	0.438000	0.31896	7.429000	0.80309	2.489000	0.83994	0.597000	0.82753	GAG		0.507	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		3	60	0	0	0	1	0	3	60				
CFAP36	112942	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N			Q96G28	CFA36_HUMAN		141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(421-423)Gat>Aat		coiled-coil domain containing 104							134.0	130.0	131.0					2																	55761032		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55761032G>A																												ENST00000349456.4:c.421G>A	2.37:g.55761032G>A	ENSP00000295117:p.Asp141Asn					CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N	p.D141N			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	569	+			141					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.421G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT		0.358	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			3	54	0	0	0	1	0	3	54				
FARP2	9855	broad.mit.edu	37	2	242373670	242373670	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:242373670T>G	ENST00000264042.3	+	10	1135	c.965T>G	c.(964-966)cTt>cGt	p.L322R	FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	322	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTTTTTAGACTTTTGGACCAA	0.478																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(964-966)cTt>cGt		FERM, RhoGEF and pleckstrin domain protein 2							130.0	134.0	133.0					2																	242373670		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373670T>G	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.965T>G	2.37:g.242373670T>G	ENSP00000264042:p.Leu322Arg					FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1135	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	322			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.965T>G	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294604	0.81025	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-1.68	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.078401	0.48767	D	0.000166	D	0.94676	0.8283	M	0.90977	3.165	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.95778	0.8814	10	0.87932	D	0	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	322;322;322	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	R	322;322;322;9	ENSP00000264042:L322R;ENSP00000443876:L322R;ENSP00000362384:L322R;ENSP00000412772:L9R	ENSP00000264042:L322R	L	+	2	0	FARP2	242022343	0.999000	0.42202	0.103000	0.21229	0.973000	0.67179	7.748000	0.85085	1.956000	0.56807	0.455000	0.32223	CTT		0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			6	77	0	0	0	1	0	6	77				
C17orf97	400566	broad.mit.edu	37	17	263322	263322	+	Missense_Mutation	SNP	G	G	A	rs200728381		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:263322G>A	ENST00000360127.6	+	2	704	c.688G>A	c.(688-690)Gag>Aag	p.E230K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	230	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.716																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(688-690)Gag>Aag		chromosome 17 open reading frame 97							5.0	11.0	9.0					17																	263322		1844	4005	5849	SO:0001583	missense	400566							g.chr17:263322G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.688G>A	17.37:g.263322G>A	ENSP00000353245:p.Glu230Lys					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.E230K	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	704	+			230			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.688G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039752	0.02013	.	.	ENSG00000187624	ENST00000360127	T	0.31510	1.49	0.588	-1.18	0.09617	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28618	-1.0038	9	0.08381	T	0.77	.	2.0705	0.03612	0.4855:0.0:0.2571:0.2574	.	230	Q6ZQX7-4	.	K	230	ENSP00000353245:E230K	ENSP00000353245:E230K	E	+	1	0	C17orf97	263668	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.444000	0.06854	-1.732000	0.01359	-1.098000	0.02139	GAG		0.716	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		3	12	0	0	0	1	0	3	12				
SMU1	55234	broad.mit.edu	37	9	33057683	33057683	+	Silent	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:33057683A>G	ENST00000397149.3	-	7	830	c.780T>C	c.(778-780)ttT>ttC	p.F260F	SMU1_ENST00000536631.1_Silent_p.F99F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	260						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCATCATCATAAAGTTATCTT	0.403																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(778-780)ttT>ttC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							150.0	139.0	142.0					9																	33057683		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33057683A>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.780T>C	9.37:g.33057683A>G						SMU1_ENST00000536631.1_Silent_p.F99F	p.F260F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	830	-			260					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.780T>C	CCDS6534.1																																																																																				0.403	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	147	0	0	0	1	0	5	147				
OR10R2	343406	broad.mit.edu	37	1	158450659	158450659	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:158450659T>G	ENST00000368152.1	+	1	992	c.992T>G	c.(991-993)cTa>cGa	p.L331R	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AAAGGTTCTCTAAAACTATAT	0.294																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(991-993)cTa>cGa		olfactory receptor, family 10, subfamily R, member 2							37.0	37.0	37.0					1																	158450659		2203	4298	6501	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450659T>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.992T>G	1.37:g.158450659T>G	ENSP00000357134:p.Leu331Arg					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.L331R	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	992	+	all_hematologic(112;0.0378)		331					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.992T>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	1.060	-0.673312	0.03403	.	.	ENSG00000198965	ENST00000368152	T	0.00007	9.68	3.34	3.34	0.38264	.	.	.	.	.	T	0.00039	0.0001	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.39563	-0.9608	9	0.32370	T	0.25	.	5.3158	0.15854	0.0:0.1269:0.0:0.8731	.	331	Q8NGX6	O10R2_HUMAN	R	331	ENSP00000357134:L331R	ENSP00000357134:L331R	L	+	2	0	OR10R2	156717283	0.808000	0.29022	0.081000	0.20488	0.155000	0.21991	1.578000	0.36525	1.735000	0.51646	0.533000	0.62120	CTA		0.294	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		12	35	0	0	0	1	0	12	35				
KIAA1324L	222223	broad.mit.edu	37	7	86537841	86537841	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:86537841G>A	ENST00000450689.2	-	17	2563	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	793						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATTTTTCAATGTGGTTTCAAC	0.303																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2377-2379)aCa>aTa		KIAA1324-like							83.0	90.0	88.0					7																	86537841		2202	4290	6492	SO:0001583	missense	222223					integral to membrane		g.chr7:86537841G>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2378C>T	7.37:g.86537841G>A	ENSP00000413445:p.Thr793Ile					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I	p.T793I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			17	2563	-	Esophageal squamous(14;0.0058)		793					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2378C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080552	0.36662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	5.8	5.8	0.92144	Mannose-6-phosphate receptor, binding (1);	0.472558	0.24198	N	0.040643	T	0.05364	0.0142	L	0.36672	1.1	0.31724	N	0.637875	B;B;B	0.18741	0.03;0.01;0.006	B;B;B	0.15484	0.013;0.005;0.005	T	0.06285	-1.0835	10	0.33940	T	0.23	.	12.3	0.54868	0.0848:0.0:0.9152:0.0	.	793;553;626	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	793;553;722;626	ENSP00000413445:T793I;ENSP00000297222:T553I;ENSP00000397377:T722I;ENSP00000402390:T626I	ENSP00000297222:T553I	T	-	2	0	KIAA1324L	86375777	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	2.032000	0.41127	2.744000	0.94065	0.655000	0.94253	ACA		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		22	34	0	0	0	1	0	22	34				
LRP1B	53353	broad.mit.edu	37	2	140995791	140995791	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:140995791A>G	ENST00000389484.3	-	89	14461	c.13490T>C	c.(13489-13491)aTg>aCg	p.M4497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4497					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCTCATACATGTTATAAGA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13489-13491)aTg>aCg		low density lipoprotein receptor-related protein 1B							198.0	185.0	189.0					2																	140995791		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995791A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13490T>C	2.37:g.140995791A>G	ENSP00000374135:p.Met4497Thr	TSP Lung(27;0.18)					p.M4497T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14461	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4497					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13490T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.58|17.58	3.424037|3.424037	0.62733|0.62733	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.40756	.|1.02	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43478|0.43478	0.1249|0.1249	M|M	0.67397|0.67397	2.05|2.05	0.47476|0.47476	D|D	0.999431|0.999431	.|P	.|0.35433	.|0.501	.|B	.|0.30646	.|0.118	T|T	0.47711|0.47711	-0.9096|-0.9096	5|10	.|0.72032	.|D	.|0.01	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4497	.|Q9NZR2	.|LRP1B_HUMAN	R|T	729;267|4497;4435	.|ENSP00000374135:M4497T	.|ENSP00000374135:M4497T	C|M	-|-	1|2	0|0	LRP1B|LRP1B	140712261|140712261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.730000|8.730000	0.91510|0.91510	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	41	0	0	0	1	0	13	41				
BOLA1	51027	broad.mit.edu	37	1	149871937	149871937	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:149871937C>T	ENST00000369153.2	+	3	989	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	BOLA1_ENST00000369150.1_Missense_Mutation_p.R109W|BOLA1_ENST00000369152.5_Missense_Mutation_p.R109W|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	109						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCAGGCACGGACCCCCGC	0.642																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(325-327)Cgg>Tgg		bolA family member 1							27.0	31.0	30.0					1																	149871937		2203	4300	6503	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871937C>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.325C>T	1.37:g.149871937C>T	ENSP00000358149:p.Arg109Trp					BOLA1_ENST00000369150.1_Missense_Mutation_p.R109W|BOLA1_ENST00000369152.5_Missense_Mutation_p.R109W|BOLA1_ENST00000476344.1_3'UTR	p.R109W			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	989	+	Breast(34;0.0124)|all_hematologic(923;0.127)		109					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.325C>T	CCDS939.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700917	0.48307	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.64438	-0.1;-0.1;-0.1	5.63	3.69	0.42338	.	0.319538	0.29493	N	0.011996	T	0.52821	0.1758	L	0.52364	1.645	0.32602	N	0.525748	D	0.62365	0.991	P	0.58970	0.849	T	0.55321	-0.8159	10	0.41790	T	0.15	-32.694	6.1445	0.20278	0.35:0.5634:0.0:0.0866	.	109	Q9Y3E2	BOLA1_HUMAN	W	109	ENSP00000358149:R109W;ENSP00000358148:R109W;ENSP00000358146:R109W	ENSP00000358146:R109W	R	+	1	2	BOLA1	148138561	0.949000	0.32298	0.811000	0.32455	0.079000	0.17450	2.088000	0.41663	1.457000	0.47850	0.561000	0.74099	CGG		0.642	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		12	23	0	0	0	1	0	12	23				
TACC3	10460	broad.mit.edu	37	4	1742673	1742673	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:1742673G>A	ENST00000313288.4	+	13	2289	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	728					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F726fs*87(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTCTTCAAGCGTTTTGAGAAA	0.493																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			1	Deletion - Frameshift(1)	p.F726fs*87(1)	ovary(1)	central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2182-2184)cGt>cAt		transforming, acidic coiled-coil containing protein 3							94.0	94.0	94.0					4																	1742673		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1742673G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2183G>A	4.37:g.1742673G>A	ENSP00000326550:p.Arg728His						p.R728H	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		13	2289	+		Breast(71;0.212)|all_epithelial(65;0.241)	728					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.2183G>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062914	0.55432	.	.	ENSG00000013810	ENST00000313288	T	0.54279	0.58	4.88	3.11	0.35812	.	0.319538	0.21285	N	0.077094	T	0.73776	0.3630	M	0.89715	3.055	0.47214	D	0.999355	D;B	0.89917	1.0;0.386	D;B	0.67231	0.95;0.146	T	0.78590	-0.2145	10	0.72032	D	0.01	-10.9388	11.2092	0.48788	0.1552:0.0:0.8448:0.0	.	728;728	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	H	728	ENSP00000326550:R728H	ENSP00000326550:R728H	R	+	2	0	TACC3	1712471	1.000000	0.71417	0.642000	0.29436	0.196000	0.23810	5.924000	0.70054	1.285000	0.44548	0.650000	0.86243	CGT		0.493	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			8	102	0	0	0	1	0	8	102				
BAGE2	85319	broad.mit.edu	37	21	11039424	11039424	+	RNA	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr21:11039424T>A	ENST00000470054.1	-	0	779							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAATTCGGTATTCACTGTA	0.279																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039424T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039424T>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	779	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.279	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	110	0	0	0	1	0	4	110				
KCNV1	27012	broad.mit.edu	37	8	110980379	110980379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr8:110980379G>A	ENST00000524391.1	-	4	2473	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	481					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCTTTCAGTCGCAGCATCTCC	0.403																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1441-1443)Cga>Tga		potassium channel, subfamily V, member 1							81.0	76.0	78.0					8																	110980379		2203	4300	6503	SO:0001587	stop_gained	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980379G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1441C>T	8.37:g.110980379G>A	ENSP00000435954:p.Arg481*					KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*	p.R481*			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2473	-	all_neural(195;0.219)		481					Q9UHJ4	Nonsense_Mutation	SNP	ENST00000524391.1	37	c.1441C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	40	8.348827	0.98772	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.52	4.62	0.57501	.	0.523461	0.18547	N	0.138022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.5021	0.67729	0.0:0.0:0.8522:0.1478	.	.	.	.	X	481;481;357	.	ENSP00000297404:R481X	R	-	1	2	KCNV1	111049555	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	5.100000	0.64560	1.256000	0.44068	0.563000	0.77884	CGA		0.403	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		5	56	0	0	0	1	0	5	56				
H2AFV	94239	broad.mit.edu	37	7	44874154	44874154	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:44874154G>C	ENST00000308153.4	-	5	424	c.333C>G	c.(331-333)atC>atG	p.I111M	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	111						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGATGTGAGGGATCACACCTA	0.333																																						ENST00000308153.4																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(331-333)atC>atG		H2A histone family, member V							78.0	69.0	72.0					7																	44874154		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44874154G>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.333C>G	7.37:g.44874154G>C	ENSP00000308405:p.Ile111Met					H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000521529.1_3'UTR	p.I111M	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN			5	424	-			111					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.333C>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122631	0.56613	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.83591	0.83;-1.74;0.85	5.67	1.24	0.21308	Histone-fold (1);Histone H2A (2);	.	.	.	.	D	0.84238	0.5428	M	0.70108	2.13	0.80722	D	1	P;P;P	0.49862	0.726;0.458;0.929	P;B;P	0.51487	0.671;0.23;0.5	T	0.82279	-0.0536	9	0.62326	D	0.03	-9.5729	8.5561	0.33483	0.432:0.0:0.568:0.0	.	85;73;111	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	M	73;111;85	ENSP00000342714:I73M;ENSP00000308405:I111M;ENSP00000340708:I85M	ENSP00000308405:I111M	I	-	3	3	H2AFV	44840679	0.894000	0.30519	1.000000	0.80357	0.992000	0.81027	0.057000	0.14279	0.318000	0.23185	0.561000	0.74099	ATC		0.333	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		6	43	0	0	0	1	0	6	43				
SLTM	79811	broad.mit.edu	37	15	59186349	59186349	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186349T>A	ENST00000380516.2	-	11	1508	c.1421A>T	c.(1420-1422)gAt>gTt	p.D474V	SLTM_ENST00000536328.1_Missense_Mutation_p.D43V|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCTTTTCATCATTTTCTTT	0.284																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1420-1422)gAt>gTt		SAFB-like, transcription modulator							88.0	85.0	86.0					15																	59186349		2190	4291	6481	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186349T>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1421A>T	15.37:g.59186349T>A	ENSP00000369887:p.Asp474Val					SLTM_ENST00000536328.1_Missense_Mutation_p.D43V	p.D474V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1508	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1421A>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535816	0.64972	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D	0.89810	-2.57	5.46	5.46	0.80206	.	0.109608	0.40144	N	0.001180	D	0.89269	0.6667	L	0.32530	0.975	0.80722	D	1	D;D	0.61697	0.981;0.99	P;P	0.55455	0.617;0.776	D	0.90312	0.4338	10	0.59425	D	0.04	.	15.5254	0.75901	0.0:0.0:0.0:1.0	.	474;43	Q9NWH9;A8K5V8	SLTM_HUMAN;.	V	474;67;43;456	ENSP00000369887:D474V	ENSP00000249736:D456V	D	-	2	0	SLTM	56973641	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.386000	0.79775	2.059000	0.61396	0.528000	0.53228	GAT		0.284	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	22	0	0	0	1	0	8	22				
ANP32D	23519	broad.mit.edu	37	12	48866491	48866491	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr12:48866491C>T	ENST00000266594.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	15						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGGAACAGGACGCCCTCCGAT	0.458																																						ENST00000266594.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(43-45)aCg>aTg		acidic (leucine-rich) nuclear phosphoprotein 32 family, member D							111.0	113.0	112.0					12																	48866491		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866491C>T	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.44C>T	12.37:g.48866491C>T	ENSP00000266594:p.Thr15Met						p.T15M	NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN			1	44	+			15					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.44C>T	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508015	0.44558	.	.	ENSG00000139223	ENST00000266594	T	0.00460	7.27	1.6	-1.09	0.09904	.	0.181808	0.47093	D	0.000241	T	0.00412	0.0013	M	0.84948	2.725	0.43613	D	0.995988	P	0.45474	0.859	B	0.34180	0.177	T	0.71882	-0.4458	10	0.66056	D	0.02	.	3.32	0.07047	0.2471:0.5614:0.0:0.1915	.	15	O95626	AN32D_HUMAN	M	15	ENSP00000266594:T15M	ENSP00000266594:T15M	T	+	2	0	ANP32D	47152758	1.000000	0.71417	0.084000	0.20598	0.770000	0.43624	0.690000	0.25451	0.049000	0.15920	0.442000	0.29010	ACG		0.458	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		42	91	0	0	0	1	0	42	91				
ZKSCAN1	7586	broad.mit.edu	37	7	99631486	99631486	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:99631486G>A	ENST00000324306.6	+	6	1592	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R240H|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R417H	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R453H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTCCATCAGCGCATCCACTCT	0.522																																						ENST00000324306.6																			1	Substitution - Missense(1)	p.R453H(1)	large_intestine(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1357-1359)cGc>cAc		zinc finger with KRAB and SCAN domains 1							171.0	174.0	173.0					7																	99631486		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631486G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1358G>A	7.37:g.99631486G>A	ENSP00000323148:p.Arg453His					ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R417H|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R240H	p.R453H	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1592	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		453					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.1358G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927530	0.73327	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.02446	4.29;4.29;4.29	5.08	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000036	T	0.14960	0.0361	M	0.84511	2.7	0.38329	D	0.943754	D	0.89917	1.0	D	0.75484	0.986	T	0.00094	-1.2079	10	0.87932	D	0	.	9.691	0.40127	0.0923:0.0:0.9077:0.0	.	453	P17029	ZKSC1_HUMAN	H	453;417;240	ENSP00000323148:R453H;ENSP00000409172:R417H;ENSP00000443508:R240H	ENSP00000323148:R453H	R	+	2	0	ZKSCAN1	99469422	0.848000	0.29623	0.965000	0.40720	0.883000	0.51084	2.088000	0.41663	2.802000	0.96397	0.563000	0.77884	CGC		0.522	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	162	0	0	0	1	0	4	162				
KRCC1	51315	broad.mit.edu	37	2	88327466	88327466	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:88327466G>C	ENST00000347055.3	-	4	1010	c.617C>G	c.(616-618)aCc>aGc	p.T206S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	206	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GACATGTACGGTTTCTATTTC	0.383																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(616-618)aCc>aGc		lysine-rich coiled-coil 1							150.0	161.0	158.0					2																	88327466		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327466G>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.617C>G	2.37:g.88327466G>C	ENSP00000340083:p.Thr206Ser						p.T206S	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	1010	-			206			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.617C>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653594	0.14580	.	.	ENSG00000172086	ENST00000347055	T	0.33438	1.41	2.14	2.14	0.27477	.	0.637169	0.12288	U	0.482222	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	P	0.49961	0.93	P	0.47102	0.537	T	0.07385	-1.0775	10	0.16420	T	0.52	-20.9974	7.8418	0.29403	0.0:0.0:1.0:0.0	.	206	Q9NPI7	KRCC1_HUMAN	S	206	ENSP00000340083:T206S	ENSP00000340083:T206S	T	-	2	0	KRCC1	88108581	0.002000	0.14202	0.509000	0.27700	0.788000	0.44548	0.642000	0.24735	1.511000	0.48818	0.650000	0.86243	ACC		0.383	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		64	145	0	0	0	1	0	64	145				
LRRC15	131578	broad.mit.edu	37	3	194080233	194080233	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194080233C>A	ENST00000347624.3	-	2	1625	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	514					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCAGTGTAGTCTTCCACAGGG	0.557																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1540-1542)Gac>Tac		leucine rich repeat containing 15							156.0	151.0	153.0					3																	194080233		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080233C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1540G>T	3.37:g.194080233C>A	ENSP00000306276:p.Asp514Tyr					LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y	p.D514Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1625	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		514					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1540G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455983	0.12283	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.41;0.41	5.43	4.56	0.56223	.	0.326278	0.28933	N	0.013665	T	0.47525	0.1450	N	0.24115	0.695	0.21220	N	0.999751	P;P	0.51537	0.91;0.946	P;P	0.55999	0.498;0.789	T	0.32295	-0.9912	10	0.11182	T	0.66	.	10.7469	0.46185	0.0:0.8486:0.0:0.1514	.	514;520	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Y	514;520;520	ENSP00000306276:D514Y;ENSP00000389128:D520Y;ENSP00000413707:D520Y	ENSP00000306276:D514Y	D	-	1	0	LRRC15	195561528	0.030000	0.19436	0.692000	0.30179	0.080000	0.17528	1.375000	0.34295	1.455000	0.47813	0.655000	0.94253	GAC		0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			12	32	1	0	1.08611e-07	1	1.12172e-07	12	32				
ASXL2	55252	broad.mit.edu	37	2	25972970	25972979	+	Frame_Shift_Del	DEL	ATCCTTTGGG	ATCCTTTGGG	-	rs539459100	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:25972970_25972979delATCCTTTGGG	ENST00000435504.4	-	12	1739_1748	c.1446_1455delCCCAAAGGAT	c.(1444-1455)tgcccaaaggatfs	p.CPKD482fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	482					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGATCCTCATCCTTTGGGCACTTGATGG	0.481																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1444-1455)tgfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972970_25972979delATCCTTTGGG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1446_1455delCCCAAAGGAT	2.37:g.25972970_25972979delATCCTTTGGG	ENSP00000391447:p.Cys482fs					ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs	p.CPKD482fs			Q76L83	ASXL2_HUMAN			12	1739_1748	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		482					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1446_1455delCCCAAAGGAT																																																																																					0.481	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		29	110						29	110	---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A	rs376259802		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:97808574_97808575insA	ENST00000461153.2	+	8	1145		c.e8+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366																																						ENST00000420699.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e8+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97808574_97808575insA	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.901+2->A	2.37:g.97808575_97808575dupA						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			8	1145	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	INS	ENST00000461153.2	37		CCDS54379.1																																																																																				0.366	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	7	6						7	6	---	---	---	---
XXYLT1	152002	broad.mit.edu	37	3	194991542	194991542	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194991542delG	ENST00000310380.6	-	1	354	c.246delC	c.(244-246)cccfs	p.P82fs		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	82						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCTTCGCGCCGGGGGCTGGCG	0.751																																						ENST00000310380.6																			0											c.(244-246)ccfs		xyloside xylosyltransferase 1							4.0	4.0	4.0					3																	194991542		1591	3590	5181	SO:0001589	frameshift_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991542delG	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.246delC	3.37:g.194991542delG	ENSP00000309640:p.Pro82fs						p.P82fs	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			1	354	-			82					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Frame_Shift_Del	DEL	ENST00000310380.6	37	c.246delC	CCDS43188.1																																																																																				0.751	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		2	4						2	4	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22737844	22737845	+	RNA	INS	-	-	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:22737844_22737845insA	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGTGTTTCTTAAAAATAGAAG	0.396																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737844_22737845insA	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737849_22737849dupA						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	388	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	INS	ENST00000503442.1	37																																																																																						0.396	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			7	78						7	78	---	---	---	---
TSPYL4	23270	broad.mit.edu	37	6	116574801	116574801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr6:116574801delC	ENST00000420283.1	-	1	460	c.371delG	c.(370-372)ggcfs	p.G124fs	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	124					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCCAGCAGGGCCACGGGGCTC	0.597																																						ENST00000420283.1																			0				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11						c.(370-372)gcfs		TSPY-like 4							13.0	12.0	12.0					6																	116574801		1835	3965	5800	SO:0001589	frameshift_variant	23270				nucleosome assembly	nucleus		g.chr6:116574801delC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.371delG	6.37:g.116574801delC	ENSP00000410943:p.Gly124fs						p.G124fs	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)	1	460	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	124					B4DYQ2|O94828|Q96GW8	Frame_Shift_Del	DEL	ENST00000420283.1	37	c.371delG	CCDS5106.1																																																																																				0.597	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		3	6						3	6	---	---	---	---
