#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
PGLYRP1	8993	broad.mit.edu	37	19	46522861	46522861	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:46522861C>G	ENST00000008938.4	-	2	375	c.332G>C	c.(331-333)tGg>tCg	p.W111S	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	111					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGTGAAGTTCCAGCCACGGCC	0.582																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(331-333)tGg>tCg		peptidoglycan recognition protein 1							67.0	58.0	61.0					19																	46522861		2203	4300	6503	SO:0001583	missense	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522861C>G	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.332G>C	19.37:g.46522861C>G	ENSP00000008938:p.Trp111Ser					CCDC61_ENST00000601763.1_Intron	p.W111S	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	375	-		all_neural(266;0.113)|Ovarian(192;0.127)	111					Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	c.332G>C	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139492	0.37728	.	.	ENSG00000008438	ENST00000008938	T	0.49720	0.77	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000027	T	0.74921	0.3780	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81551	-0.0881	10	0.87932	D	0	-27.3543	13.8728	0.63629	0.0:1.0:0.0:0.0	.	111	O75594	PGRP1_HUMAN	S	111	ENSP00000008938:W111S	ENSP00000008938:W111S	W	-	2	0	PGLYRP1	51214701	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	3.970000	0.56824	2.335000	0.79485	0.650000	0.86243	TGG		0.582	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		5	180	0	0	0	1	0	5	180				
TSC2	7249	broad.mit.edu	37	16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000353929.4_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2932-2934)cGc>cAc		tuberous sclerosis 2							68.0	66.0	66.0					16																	2127694		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2127694G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2933G>A	16.37:g.2127694G>A	ENSP00000219476:p.Arg978His					TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H	p.R978H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			26	3563	+		Hepatocellular(780;0.0202)	978					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2933G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688032	0.68271	.	.	ENSG00000103197	ENST00000219476;ENST00000350773	D;D	0.93604	-3.25;-3.17	5.02	4.05	0.47172	.	0.056249	0.64402	N	0.000001	D	0.91140	0.7210	L	0.54323	1.7	0.80722	D	1	B;B	0.23442	0.085;0.033	B;B	0.24701	0.055;0.012	D	0.88509	0.3088	10	0.56958	D	0.05	-20.9918	13.802	0.63206	0.0749:0.0:0.9251:0.0	.	978;978	P49815-4;P49815	.;TSC2_HUMAN	H	978	ENSP00000219476:R978H;ENSP00000344383:R978H	ENSP00000219476:R978H	R	+	2	0	TSC2	2067695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.929000	0.87595	1.103000	0.41568	0.655000	0.94253	CGC		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		5	414	0	0	0	1	0	5	414				
DNAH2	146754	broad.mit.edu	37	17	7735977	7735977	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7735977C>T	ENST00000572933.1	+	83	14267	c.12807C>T	c.(12805-12807)agC>agT	p.S4269S	DNAH2_ENST00000389173.2_Silent_p.S4269S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4269					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGGCCAGCCGGGCCCGGC	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12805-12807)agC>agT		dynein, axonemal, heavy chain 2							108.0	113.0	111.0					17																	7735977		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7735977C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12807C>T	17.37:g.7735977C>T						DNAH2_ENST00000389173.2_Silent_p.S4269S	p.S4269S			Q9P225	DYH2_HUMAN			83	14267	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4269					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12807C>T	CCDS32551.1																																																																																				0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	486	0	0	0	1	0	5	486				
C12orf66	144577	broad.mit.edu	37	12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:64609707C>T	ENST00000398055.3	-	2	325	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C12orf66_ENST00000311915.8_Missense_Mutation_p.R91H|C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	91								p.R91H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATAGATGGTGCGGATGGAATC	0.507																																						ENST00000311915.8																			1	Substitution - Missense(1)	p.R91H(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(271-273)cGc>cAc		chromosome 12 open reading frame 66							48.0	51.0	50.0					12																	64609707		1993	4161	6154	SO:0001583	missense	144577							g.chr12:64609707C>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.272G>A	12.37:g.64609707C>T	ENSP00000381132:p.Arg91His					C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H|C12orf66_ENST00000398055.3_Missense_Mutation_p.R91H	p.R91H			Q96MD2	CL066_HUMAN			2	299	-			91					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.272G>A	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605524	0.87157	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.42131	0.98;0.98;0.98	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.98;0.999	P;D	0.64144	0.586;0.922	T	0.57631	-0.7778	9	.	.	.	-9.8646	14.7258	0.69343	0.0:0.9305:0.0:0.0695	.	38;91	F5H2Q3;Q96MD2	.;CL066_HUMAN	H	91;38;91	ENSP00000311486:R91H;ENSP00000445481:R38H;ENSP00000381132:R91H	.	R	-	2	0	C12orf66	62895974	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.518000	0.81795	1.428000	0.47296	0.491000	0.48974	CGC		0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		27	96	0	0	0	1	0	27	96				
EIF2B2	8892	broad.mit.edu	37	14	75472642	75472642	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:75472642C>T	ENST00000266126.5	+	5	751	c.671C>T	c.(670-672)gCc>gTc	p.A224V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	224					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCCATTTTTGCCGTTATGTCA	0.383																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(670-672)gCc>gTc		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							289.0	283.0	285.0					14																	75472642		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75472642C>T		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.671C>T	14.37:g.75472642C>T	ENSP00000266126:p.Ala224Val					RP11-950C14.3_ENST00000554430.1_RNA	p.A224V	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	5	751	+			224					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.671C>T	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048482	0.93740	.	.	ENSG00000119718	ENST00000266126;ENST00000554748	D	0.92752	-3.1	5.53	5.53	0.82687	.	0.049338	0.85682	D	0.000000	D	0.96944	0.9002	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97145	0.9827	10	0.87932	D	0	-11.3027	19.6556	0.95837	0.0:1.0:0.0:0.0	.	224	P49770	EI2BB_HUMAN	V	224;12	ENSP00000266126:A224V	ENSP00000266126:A224V	A	+	2	0	EIF2B2	74542395	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.773000	0.68898	2.882000	0.98803	0.655000	0.94253	GCC		0.383	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		8	1160	0	0	0	1	0	8	1160				
TRPM2	7226	broad.mit.edu	37	21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	rs138586774	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:45833885C>T	ENST00000397928.1	+	20	3519	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1025					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGTGGCTGACGGTCCTCCTA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0031					ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3073-3075)aCg>aTg		transient receptor potential cation channel, subfamily M, member 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	217.0	218.0	218.0		3074	4.7	0.9	21	dbSNP_134	218	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1025/1504	45833885	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833885C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3074C>T	21.37:g.45833885C>T	ENSP00000381023:p.Thr1025Met					TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M	p.T1025M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			20	3519	+			1025					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3074C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347791	0.82022	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.88906	2.99	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.3961	18.1214	0.89572	0.0:1.0:0.0:0.0	.	1025;811;1025	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1025;1025;1005;1025	ENSP00000300482:T1025M;ENSP00000381023:T1025M;ENSP00000300481:T1005M;ENSP00000381026:T1025M	ENSP00000300481:T1005M	T	+	2	0	TRPM2	44658313	1.000000	0.71417	0.902000	0.35471	0.965000	0.64279	5.679000	0.68160	2.352000	0.79861	0.591000	0.81541	ACG		0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		38	1242	0	0	0	1	0	38	1242				
GOT1	2805	broad.mit.edu	37	10	101166530	101166530	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101166530C>A	ENST00000370508.5	-	3	404	c.377G>T	c.(376-378)gGa>gTa	p.G126V	GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	126					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GTTGTTTGTTCCATTGTACCA	0.468																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(376-378)gGa>gTa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						208.0	157.0	174.0					10																	101166530		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101166530C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.377G>T	10.37:g.101166530C>A	ENSP00000359539:p.Gly126Val					GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	p.G126V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	3	404	-		Ovarian(717;0.028)|Colorectal(252;0.234)	126					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.377G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596653	0.86953	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.20738	2.05;2.05	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.33137	0.985	0.80722	D	1	B	0.25772	0.134	B	0.27608	0.081	T	0.05733	-1.0867	10	0.17369	T	0.5	-3.717	19.9135	0.97033	0.0:1.0:0.0:0.0	.	126	P17174	AATC_HUMAN	V	126;79;105	ENSP00000359539:G126V;ENSP00000445578:G105V	ENSP00000359539:G126V	G	-	2	0	GOT1	101156520	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	7.379000	0.79691	2.807000	0.96579	0.549000	0.68633	GGA		0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		52	100	1	0	6.08268e-21	1	6.45133e-21	52	100				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	117	0	0	0	1	0	7	117				
C11orf87	399947	broad.mit.edu	37	11	109294680	109294680	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:109294680C>T	ENST00000327419.6	+	2	724	c.321C>T	c.(319-321)agC>agT	p.S107S	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	107						integral component of membrane (GO:0016021)		p.S107S(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATCACTGCAGCGGCAGCCGCG	0.642																																						ENST00000327419.6																			1	Substitution - coding silent(1)	p.S107S(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(319-321)agC>agT		chromosome 11 open reading frame 87							80.0	83.0	82.0					11																	109294680		2201	4298	6499	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294680C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.321C>T	11.37:g.109294680C>T						RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.S107S	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	724	+			107					B4E169	Silent	SNP	ENST00000327419.6	37	c.321C>T	CCDS31672.1																																																																																				0.642	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		99	286	0	0	0	1	0	99	286				
CHEK2	11200	broad.mit.edu	37	22	29130542	29130542	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:29130542G>C	ENST00000405598.1	-	3	359	c.168C>G	c.(166-168)agC>agG	p.S56R	CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382580.2_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R			O96017	CHK2_HUMAN	checkpoint kinase 2	56					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTGTCCCAGAGCTGGAGTGAG	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(166-168)agC>agG	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							127.0	119.0	122.0					22																	29130542		2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130542G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.168C>G	22.37:g.29130542G>C	ENSP00000386087:p.Ser56Arg					CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S56R|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R	p.S56R	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			2	243	-			56					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.168C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791600	0.70452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.95103	0.58;-0.25;-0.67;-3.61;-0.38;-0.38;-0.38;2.13;-0.25;0.58;0.03;2.13;-2.79	5.42	2.08	0.27032	.	0.125544	0.85682	D	0.000000	D	0.95446	0.8521	L	0.56769	1.78	0.41295	D	0.987004	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.85130	0.997;0.996;0.991;0.996;0.991;0.996	D	0.93676	0.6994	10	0.41790	T	0.15	-2.6501	9.8378	0.40980	0.2972:0.0:0.7028:0.0	.	56;56;56;56;56;56	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	R	56;56;56;56;56;56;56;56;56;56;56;56;56;66	ENSP00000329012:S56R;ENSP00000372021:S56R;ENSP00000372006:S56R;ENSP00000372007:S56R;ENSP00000329178:S56R;ENSP00000385747:S56R;ENSP00000386087:S56R;ENSP00000372023:S56R;ENSP00000384919:S56R;ENSP00000384835:S56R;ENSP00000397478:S56R;ENSP00000408065:S56R;ENSP00000381099:S66R	ENSP00000329178:S56R	S	-	3	2	CHEK2	27460542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.539000	0.23175	0.749000	0.32854	0.655000	0.94253	AGC		0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		108	295	0	0	0	1	0	108	295				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	53	0	0	0	1	0	5	53				
ZNF317	57693	broad.mit.edu	37	19	9271674	9271674	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9271674C>T	ENST00000247956.6	+	7	1658	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	ZNF317_ENST00000360385.3_Silent_p.C419C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCGATCTCTGCGGGAAAGCTT	0.547																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1351-1353)tgC>tgT		zinc finger protein 317							63.0	60.0	61.0					19																	9271674		2203	4300	6503	SO:0001819	synonymous_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271674C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1353C>T	19.37:g.9271674C>T						ZNF317_ENST00000360385.3_Silent_p.C419C	p.C451C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1658	+			451					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	c.1353C>T	CCDS12210.1																																																																																				0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		41	120	0	0	0	1	0	41	120				
NCF4	4689	broad.mit.edu	37	22	37273798	37273798	+	Missense_Mutation	SNP	G	G	A	rs371008750		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:37273798G>A	ENST00000248899.6	+	10	1137	c.953G>A	c.(952-954)cGc>cAc	p.R318H	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	318	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TCCCAGAAGCGCCTCTTCCCC	0.617																																						ENST00000248899.6																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(952-954)cGc>cAc		neutrophil cytosolic factor 4, 40kDa		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	42.0	45.0		,953	0.9	1.0	22		45	0,8600		0,0,4300	no	utr-3,missense	NCF4	NM_013416.3,NM_000631.4	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,318/340	37273798	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37273798G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.953G>A	22.37:g.37273798G>A	ENSP00000248899:p.Arg318His					NCF4_ENST00000397147.4_3'UTR	p.R318H	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN			10	1137	+			318					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.953G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067255	0.36470	2.27E-4	0.0	ENSG00000100365	ENST00000248899	T	0.23552	1.9	5.31	0.851	0.18989	Phox/Bem1p (2);	.	.	.	.	T	0.13157	0.0319	N	0.16233	0.39	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.10245	-1.0638	9	0.30854	T	0.27	.	6.9148	0.24354	0.4921:0.0:0.5079:0.0	.	318	Q15080	NCF4_HUMAN	H	318	ENSP00000248899:R318H	ENSP00000248899:R318H	R	+	2	0	NCF4	35603744	0.735000	0.28153	0.982000	0.44146	0.789000	0.44602	0.840000	0.27600	0.240000	0.21263	0.557000	0.71058	CGC		0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		41	85	0	0	0	1	0	41	85				
BCO2	83875	broad.mit.edu	37	11	112050059	112050059	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:112050059G>A	ENST00000357685.5	+	2	282	c.147G>A	c.(145-147)cgG>cgA	p.R49R	BCO2_ENST00000438022.1_Silent_p.R15R|BCO2_ENST00000531169.1_Silent_p.R15R|BCO2_ENST00000526088.1_Silent_p.R15R|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000361053.4_Silent_p.R49R|AP002884.3_ENST00000532612.1_Silent_p.R20R|BCO2_ENST00000393032.2_Silent_p.R15R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGCAGTGTCGGGGTCTGCCAT	0.488																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(145-147)cgG>cgA		beta-carotene oxygenase 2							83.0	85.0	84.0					11																	112050059		2201	4297	6498	SO:0001819	synonymous_variant	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050059G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.147G>A	11.37:g.112050059G>A						BCO2_ENST00000526088.1_Silent_p.R15R|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Silent_p.R15R|BCO2_ENST00000393032.2_Silent_p.R15R|BCO2_ENST00000361053.4_Silent_p.R49R|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000438022.1_Silent_p.R15R	p.R49R			Q9BYV7	BCDO2_HUMAN			2	282	+			49					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	c.147G>A	CCDS8358.2																																																																																				0.488	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		5	402	0	0	0	1	0	5	402				
RREB1	6239	broad.mit.edu	37	6	7229470	7229470	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7229470G>A	ENST00000349384.6	+	10	1452	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	RREB1_ENST00000334984.6_Missense_Mutation_p.A380T|RREB1_ENST00000379938.2_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	380					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCTGCCCCCGCCGAGGAGCC	0.652																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1138-1140)Gcc>Acc		ras responsive element binding protein 1																																				SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229470G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1138G>A	6.37:g.7229470G>A	ENSP00000305560:p.Ala380Thr					RREB1_ENST00000349384.6_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T	p.A380T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1675	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	380					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1138G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386212	0.04966	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.09723	3.07;3.05;3.07;2.95;3.1	5.71	-3.44	0.04796	.	0.637364	0.13362	N	0.393588	T	0.01905	0.0060	N	0.20685	0.6	0.09310	N	1	B;B;B	0.15473	0.009;0.013;0.002	B;B;B	0.09377	0.004;0.004;0.002	T	0.45687	-0.9244	10	0.56958	D	0.05	-3.7986	8.2984	0.31999	0.433:0.2:0.3669:0.0	.	380;380;380	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	380	ENSP00000369265:A380T;ENSP00000369270:A380T;ENSP00000305560:A380T;ENSP00000335574:A380T;ENSP00000419511:A380T	ENSP00000335574:A380T	A	+	1	0	RREB1	7174469	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-0.498000	0.06420	-0.332000	0.08489	-0.672000	0.03802	GCC		0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			35	143	0	0	0	1	0	35	143				
DNAJC13	23317	broad.mit.edu	37	3	132207849	132207849	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:132207849C>G	ENST00000260818.6	+	31	3700	c.3452C>G	c.(3451-3453)gCt>gGt	p.A1151G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1151					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCAAACAGGCTTTCAAGTCA	0.333																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3451-3453)gCt>gGt		DnaJ (Hsp40) homolog, subfamily C, member 13							64.0	64.0	64.0					3																	132207849		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207849C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3452C>G	3.37:g.132207849C>G	ENSP00000260818:p.Ala1151Gly						p.A1151G	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			31	3700	+			1151					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3452C>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718859	0.68844	.	.	ENSG00000138246	ENST00000260818	T	0.21031	2.03	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.69463	2.115	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.02567	-1.1140	10	0.34782	T	0.22	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	1151	O75165	DJC13_HUMAN	G	1151	ENSP00000260818:A1151G	ENSP00000260818:A1151G	A	+	2	0	DNAJC13	133690539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.950000	0.63603	2.770000	0.95276	0.650000	0.86243	GCT		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		72	185	0	0	0	1	0	72	185				
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36.0	33.0	34.0					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1872C>T	16.37:g.67913803C>T							p.S624S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	192	0	0	0	1	0	6	192				
FAM78B	149297	broad.mit.edu	37	1	166039919	166039919	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:166039919G>A	ENST00000338353.3	-	3	934	c.345C>T	c.(343-345)taC>taT	p.Y115Y	FAM78B_ENST00000354422.3_Silent_p.Y115Y			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	115										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGTGTTCCCGTACCAAGGGT	0.532																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(343-345)taC>taT		family with sequence similarity 78, member B							112.0	105.0	107.0					1																	166039919		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039919G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.345C>T	1.37:g.166039919G>A						FAM78B_ENST00000354422.3_Silent_p.Y115Y	p.Y115Y			Q5VT40	FA78B_HUMAN			3	934	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		115					B7Z693	Silent	SNP	ENST00000338353.3	37	c.345C>T	CCDS30931.1																																																																																				0.532	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		6	402	0	0	0	1	0	6	402				
PACS1	55690	broad.mit.edu	37	11	65978666	65978666	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:65978666G>A	ENST00000320580.4	+	4	629	c.596G>A	c.(595-597)cGt>cAt	p.R199H		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	199				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGGAGAAAACGTTACAAGAAT	0.488																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(595-597)cGt>cAt		phosphofurin acidic cluster sorting protein 1							218.0	185.0	196.0					11																	65978666		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65978666G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.596G>A	11.37:g.65978666G>A	ENSP00000316454:p.Arg199His						p.R199H	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			4	629	+			199	Missing (in Ref. 2; BAC04831).				Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.596G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929309	0.92389	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.37584	1.19	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	T	0.72721	-0.4208	10	0.87932	D	0	-12.2263	17.1232	0.86707	0.0:0.0:1.0:0.0	.	199;199	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	H	199;96;101	ENSP00000316454:R199H	ENSP00000316454:R199H	R	+	2	0	PACS1	65735242	1.000000	0.71417	0.980000	0.43619	0.820000	0.46376	9.152000	0.94680	2.659000	0.90383	0.313000	0.20887	CGT		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	706	0	0	0	1	0	6	706				
AIFM1	9131	broad.mit.edu	37	X	129265770	129265770	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:129265770C>A	ENST00000287295.3	-	14	1683	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	485					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GGGCCCAAATCACTCCTAAGA	0.443																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1453-1455)Gat>Tat		apoptosis-inducing factor, mitochondrion-associated, 1							113.0	101.0	105.0					X																	129265770		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129265770C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1453G>T	X.37:g.129265770C>A	ENSP00000287295:p.Asp485Tyr					AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y	p.D485Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			14	1683	-			485					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1453G>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819926	0.90873	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85258	0.59;0.57;-1.96;0.6;-0.96	5.8	5.8	0.92144	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95449	0.8532	10	0.87932	D	0	-18.3899	19.0045	0.92844	0.0:1.0:0.0:0.0	.	198;481;485	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	Y	146;198;481;133;485	ENSP00000431222:D146Y;ENSP00000316320:D198Y;ENSP00000315122:D481Y;ENSP00000405879:D133Y;ENSP00000287295:D485Y	ENSP00000287295:D485Y	D	-	1	0	AIFM1	129093451	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.487000	0.81328	2.436000	0.82500	0.600000	0.82982	GAT		0.443	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			186	121	1	0	2.45686e-96	1	2.7561e-96	186	121				
MEF2A	4205	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000449277.2_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333																																						ENST00000354410.5																			3	Substitution - Missense(3)	p.P99S(3)	lung(1)|kidney(1)|central_nervous_system(1)	endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(295-297)Cca>Tca		myocyte enhancer factor 2A							82.0	69.0	73.0					15																	100211761		1843	4079	5922	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211761C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.295C>T	15.37:g.100211761C>T	ENSP00000346389:p.Pro99Ser					MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Intron	p.P99S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		5	924	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		99					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	c.295C>T	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814941	0.90790	.	.	ENSG00000068305	ENST00000354410	T	0.63255	-0.03	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85220	0.1026	10	0.72032	D	0.01	-16.5447	19.5673	0.95398	0.0:1.0:0.0:0.0	.	99;99	Q02078;Q02078-5	MEF2A_HUMAN;.	S	99	ENSP00000346389:P99S	ENSP00000346389:P99S	P	+	1	0	MEF2A	98029284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.706000	0.92434	0.462000	0.41574	CCA		0.333	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1			4	97	0	0	0	1	0	4	97				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			4	354	0	0	0	1	0	4	354				
PDE6G	5148	broad.mit.edu	37	17	79620284	79620284	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:79620284C>A	ENST00000331056.5	-	2	195	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.G18W|PDE6G_ENST00000571004.1_Missense_Mutation_p.G18W|PDE6G_ENST00000573076.1_Missense_Mutation_p.G68W	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	18					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	ACAGGTCCCCCGGCCACCCTG	0.617																																					GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1																			0				lung(2)|urinary_tract(1)	3						c.(202-204)Ggg>Tgg		phosphodiesterase 6G, cGMP-specific, rod, gamma							52.0	57.0	56.0					17																	79620284		2203	4300	6503	SO:0001583	missense	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620284C>A		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.52G>T	17.37:g.79620284C>A	ENSP00000328412:p.Gly18Trp					PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_Missense_Mutation_p.G18W|PDE6G_ENST00000571224.1_Missense_Mutation_p.G18W|PDE6G_ENST00000571004.1_Missense_Mutation_p.G18W	p.G68W			P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	677	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		18					Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	c.202G>T	CCDS11783.1	.	.	.	.	.	.	.	.	.	.	c	31	5.091634	0.94149	.	.	ENSG00000185527	ENST00000331056	T	0.45276	0.9	5.56	5.56	0.83823	.	0.049104	0.85682	D	0.000000	T	0.67636	0.2914	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70594	-0.4829	9	0.72032	D	0.01	.	19.0952	0.93248	0.0:1.0:0.0:0.0	.	18	P18545	CNRG_HUMAN	W	18	ENSP00000328412:G18W	ENSP00000328412:G18W	G	-	1	0	PDE6G	77230689	1.000000	0.71417	0.879000	0.34478	0.926000	0.56050	5.441000	0.66569	2.624000	0.88883	0.556000	0.70494	GGG		0.617	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			5	285	1	0	0.000602214	1	0.000602214	5	285				
ENPP2	5168	broad.mit.edu	37	8	120633644	120633644	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:120633644C>T	ENST00000075322.6	-	4	466	c.408G>A	c.(406-408)gtG>gtA	p.V136V	ENPP2_ENST00000259486.6_Silent_p.V136V|ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000427067.2_Silent_p.V132V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	136	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTTGCAAACCACTTGGTAAT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(394-396)gtG>gtA		ectonucleotide pyrophosphatase/phosphodiesterase 2							112.0	103.0	106.0					8																	120633644		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120633644C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.408G>A	8.37:g.120633644C>T						ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000259486.6_Silent_p.V136V|ENPP2_ENST00000075322.6_Silent_p.V136V	p.V132V			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	576	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		136			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.396G>A	CCDS34936.1																																																																																				0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			86	201	0	0	0	1	0	86	201				
B3GAT1	27087	broad.mit.edu	37	11	134253672	134253672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:134253672G>A	ENST00000524765.1	-	3	5067	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	175					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCAGCCAGCGCAGGGCCAGG	0.682																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(523-525)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							30.0	25.0	27.0					11																	134253672		2197	4289	6486	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253672G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.523C>T	11.37:g.134253672G>A	ENSP00000433847:p.Arg175Cys					B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C	p.R175C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	5067	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	175					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.523C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765228	0.69878	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.74647	2.275	0.80722	D	1	B;B	0.24576	0.106;0.055	B;B	0.19666	0.015;0.026	T	0.63545	-0.6613	10	0.59425	D	0.04	-29.3285	14.2768	0.66184	0.0:0.0:0.815:0.185	.	188;175	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	175;175;175;188	ENSP00000376359:R175C;ENSP00000307875:R175C;ENSP00000433847:R175C;ENSP00000445983:R188C	ENSP00000307875:R175C	R	-	1	0	B3GAT1	133758882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.623000	0.88846	0.561000	0.74099	CGC		0.682	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		8	37	0	0	0	1	0	8	37				
BTBD3	22903	broad.mit.edu	37	20	11899817	11899817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:11899817G>A	ENST00000405977.1	+	3	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|RP4-742J24.2_ENST00000439529.1_RNA	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	137	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGGTTGCCAGGACACAAAGTA	0.473																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(409-411)gGa>gAa		BTB (POZ) domain containing 3							104.0	94.0	97.0					20																	11899817		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899817G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.410G>A	20.37:g.11899817G>A	ENSP00000384545:p.Gly137Glu					BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E	p.G137E			Q9Y2F9	BTBD3_HUMAN			3	1035	+			137			BTB.		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.410G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482599	0.63962	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.72894	2.215	0.80722	D	1	P	0.41188	0.741	P	0.48141	0.568	T	0.09684	-1.0663	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	137	Q9Y2F9	BTBD3_HUMAN	E	76;76;137;76;137;26;26	ENSP00000254977:G76E;ENSP00000381971:G76E;ENSP00000384545:G137E;ENSP00000397809:G76E;ENSP00000367471:G137E;ENSP00000408817:G26E;ENSP00000404582:G26E	ENSP00000254977:G76E	G	+	2	0	BTBD3	11847817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.826000	0.97356	0.655000	0.94253	GGA		0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			35	104	0	0	0	1	0	35	104				
DGKI	9162	broad.mit.edu	37	7	137092622	137092622	+	Splice_Site	SNP	G	G	A	rs79823365		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:137092622G>A	ENST00000288490.5	-	31	2943	c.2943C>T	c.(2941-2943)caC>caT	p.H981H	DGKI_ENST00000446122.1_Splice_Site_p.H963H|DGKI_ENST00000424189.2_Splice_Site_p.H994H|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Splice_Site_p.H650H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	981					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACTTACCGTGGTCAAGGA	0.443																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.e30+1		diacylglycerol kinase, iota							206.0	170.0	182.0					7																	137092622		2203	4300	6503	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137092622G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2944+1C>T	7.37:g.137092622G>A						DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Splice_Site_p.H981_splice|DGKI_ENST00000446122.1_Splice_Site_p.H963_splice|DGKI_ENST00000424189.2_Splice_Site_p.H994_splice	p.H650_splice			O75912	DGKI_HUMAN			30	2489	-			981					A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	37	c.1951_splice	CCDS5845.1																																																																																				0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Silent	142	365	0	0	0	1	0	142	365				
ZNF384	171017	broad.mit.edu	37	12	6778208	6778208	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:6778208C>T	ENST00000396801.3	-	10	1528	c.1321G>A	c.(1321-1323)Gca>Aca	p.A441T	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.A380T|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.A441T|ZNF384_ENST00000355772.4_Missense_Mutation_p.A325T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A364T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A380T	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	441					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GATGTGTATGCCCGACTGCAG	0.522			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1138-1140)Gca>Aca		zinc finger protein 384							211.0	154.0	173.0					12																	6778208		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6778208C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1321G>A	12.37:g.6778208C>T	ENSP00000380019:p.Ala441Thr					ZNF384_ENST00000396801.3_Missense_Mutation_p.A441T|ZNF384_ENST00000355772.4_Missense_Mutation_p.A325T|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.A441T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A380T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A364T	p.A380T			Q8TF68	ZN384_HUMAN			8	1635	-			441					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1138G>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213753	0.58452	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.169035	0.53938	D	0.000052	T	0.55893	0.1949	N	0.20328	0.56	0.47778	D	0.999518	P;P;D;D	0.71674	0.843;0.607;0.996;0.998	B;B;D;D	0.78314	0.388;0.146;0.987;0.991	T	0.55592	-0.8117	10	0.40728	T	0.16	-11.8599	19.2495	0.93917	0.0:1.0:0.0:0.0	.	441;325;364;380	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	T	364;380;441;441;325;380	ENSP00000321650:A364T;ENSP00000380013:A380T;ENSP00000380019:A441T;ENSP00000354592:A441T;ENSP00000348018:A325T;ENSP00000380017:A380T	ENSP00000321650:A364T	A	-	1	0	ZNF384	6648469	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	2.728000	0.47319	2.785000	0.95823	0.591000	0.81541	GCA		0.522	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			4	195	0	0	0	1	0	4	195				
TPTEP1	387590	broad.mit.edu	37	22	17083077	17083077	+	lincRNA	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:17083077G>A	ENST00000426585.1	+	0	144									transmembrane phosphatase with tensin homology pseudogene 1																		CTCGCAAGGCGCTTCCCCTTT	0.741																																						ENST00000426585.1																			0																																																			0							g.chr22:17083077G>A			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17083077G>A														0	144	+									RNA	SNP	ENST00000426585.1	37																																																																																						0.741	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	13	0	0	0	1	0	3	13				
CHRNB4	1143	broad.mit.edu	37	15	78921685	78921685	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78921685T>G	ENST00000261751.3	-	5	1073	c.962A>C	c.(961-963)cAc>cCc	p.H321P	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	321					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGGCGAGCGGTGGTGCACATT	0.607																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(961-963)cAc>cCc		cholinergic receptor, nicotinic, beta 4 (neuronal)							105.0	91.0	96.0					15																	78921685		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921685T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.962A>C	15.37:g.78921685T>G	ENSP00000261751:p.His321Pro					CHRNB4_ENST00000412074.2_Intron	p.H321P	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1073	-			321					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.962A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366726	0.82463	.	.	ENSG00000117971	ENST00000261751	T	0.72282	-0.64	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93552	0.6887	10	0.72032	D	0.01	.	15.3749	0.74596	0.0:0.0:0.0:1.0	.	321	P30926	ACHB4_HUMAN	P	321	ENSP00000261751:H321P	ENSP00000261751:H321P	H	-	2	0	CHRNB4	76708740	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	CAC		0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			64	156	0	0	0	1	0	64	156				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	136	0	0	0	1	0	6	136				
PGBD5	79605	broad.mit.edu	37	1	230492737	230492737	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:230492737C>T	ENST00000525115.1	-	2	478	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H|PGBD5_ENST00000321327.2_Missense_Mutation_p.R251H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGCTGGAGCGGAAGGCCAC	0.617																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(751-753)cGc>cAc		piggyBac transposable element derived 5							80.0	73.0	75.0					1																	230492737		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492737C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.455G>A	1.37:g.230492737C>T	ENSP00000431404:p.Arg152His					PGBD5_ENST00000525115.1_Missense_Mutation_p.R152H|PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H	p.R251H			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	751	-	Breast(184;0.0397)	Prostate(94;0.167)	152					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.549386	0.96501	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18016	2.24;2.24;2.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01512	-1.1336	10	0.48119	T	0.1	-48.7684	20.5568	0.99304	0.0:1.0:0.0:0.0	.	152	Q8N414	PGBD5_HUMAN	H	106;251;152	ENSP00000375733:R106H;ENSP00000322530:R251H;ENSP00000431404:R152H	ENSP00000322530:R251H	R	-	2	0	PGBD5	228559360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	CGC		0.617	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		63	280	0	0	0	1	0	63	280				
MT-CO3	4514	broad.mit.edu	37	M	9307	9307	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrM:9307G>A	ENST00000362079.2	+	1	101	c.101G>A	c.(100-102)tGa>tAa	p.*34*	MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	34					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CCTAGCCATGTGATTTCACTT	0.493																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(100-102)tGa>tAa		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9307G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.101G>A	M.37:g.9307G>A							p.34_34ins*							1	101	+								Q14Y83	Nonsense_Mutation	SNP	ENST00000362079.2	37	c.101G>A																																																																																					0.493	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		8	2	0	0	0	1	0	8	2				
ABHD17A	81926	broad.mit.edu	37	19	1881263	1881263	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																						ENST00000292577.7																			3	Substitution - coding silent(3)	p.C101C(3)	lung(2)|endometrium(1)								c.(301-303)tgC>tgT		abhydrolase domain containing 17A							35.0	39.0	38.0					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926							g.chr19:1881263G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A						ABHD17A_ENST00000250974.9_Silent_p.C101C|ABHD17A_ENST00000590661.1_Silent_p.C101C	p.C101C	NM_001130111.1	NP_001123583.1					2	736	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.303C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		7	231	0	0	0	1	0	7	231				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		13	135	0	0	0	1	0	13	135				
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	284	0	0	0	1	0	5	284				
NPIPB5	100132247	broad.mit.edu	37	16	22546279	22546279	+	Missense_Mutation	SNP	C	C	T	rs574902725	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546279C>T	ENST00000517539.1	+	8	2050	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NPIPB5_ENST00000424340.1_Missense_Mutation_p.R659C|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	659	Pro-rich.					integral component of membrane (GO:0016021)											CTGCGGGGGCCGCTTCCACCC	0.572													.|||	5	0.000998403	0.0	0.0014	5008	,	,		33747	0.003		0.0	False		,,,				2504	0.001					ENST00000424340.1																			0											c.(1975-1977)Cgc>Tgc		nuclear pore complex interacting protein family, member B5							3.0	4.0	4.0					16																	22546279		612	1437	2049	SO:0001583	missense	100132247							g.chr16:22546279C>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1975C>T	16.37:g.22546279C>T	ENSP00000430633:p.Arg659Cys					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.R659C	p.R659C	NM_001135865.1	NP_001129337.1					7	2254	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1975C>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	6.628	0.484390	0.12641	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.23950	1.88;1.88	.	.	.	.	.	.	.	.	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	B;.	0.33748	0.423;.	B;.	0.31495	0.131;.	T	0.20806	-1.0264	6	0.37606	T	0.19	.	.	.	.	.	652;659	F5GWX0;A8MRT5	.;K220L_HUMAN	C	659;652;416;537;659	ENSP00000440703:R659C;ENSP00000430633:R659C	ENSP00000441680:R652C	R	+	1	0	RP11-368J21.2	22453780	0.003000	0.15002	.	.	.	.	0.064000	0.14437	.	.	.	.	CGC		0.572	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		6	731	0	0	0	1	0	6	731				
IGSF22	283284	broad.mit.edu	37	11	18738333	18738333	+	Silent	SNP	G	G	A	rs373454145	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:18738333G>A	ENST00000513874.1	-	10	1327	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	396										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGAACTCGCCGCTGTCACTGA	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21987	0.0		0.0	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1186-1188)agC>agT		immunoglobulin superfamily, member 22		G		6,4028		0,6,2011	152.0	150.0	151.0		1188	-7.4	0.0	11		151	0,8358		0,0,4179	no	coding-synonymous	IGSF22	NM_173588.3		0,6,6190	AA,AG,GG		0.0,0.1487,0.0484		396/1327	18738333	6,12386	2017	4179	6196	SO:0001819	synonymous_variant	283284							g.chr11:18738333G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1188C>T	11.37:g.18738333G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.S396S	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			10	1327	-			396					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1188C>T	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		80	416	0	0	0	1	0	80	416				
XAB2	56949	broad.mit.edu	37	19	7686089	7686089	+	Missense_Mutation	SNP	C	C	T	rs373454646		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:7686089C>T	ENST00000358368.4	-	13	1749	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	571					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGCTTGCGGCCCCCATA	0.627								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1711-1713)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	29.0	31.0	31.0		1712	3.3	1.0	19		31	0,8598		0,0,4299	no	missense	XAB2	NM_020196.2	29	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	571/856	7686089	2,13002	2203	4299	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7686089C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1712G>A	19.37:g.7686089C>T	ENSP00000351137:p.Arg571His					XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	p.R571H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			13	1749	-			571					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1712G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190993	0.58017	4.54E-4	0.0	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03553	3.89;3.89	4.32	3.27	0.37495	Tetratricopeptide-like helical (1);	0.079176	0.49305	D	0.000157	T	0.03136	0.0092	L	0.29908	0.895	0.35535	D	0.802571	P	0.43701	0.815	B	0.40165	0.321	T	0.51655	-0.8678	10	0.51188	T	0.08	-22.9882	6.2129	0.20640	0.0:0.7055:0.0:0.2945	.	571	Q9HCS7	SYF1_HUMAN	H	571;568	ENSP00000351137:R571H;ENSP00000438225:R568H	ENSP00000351137:R571H	R	-	2	0	XAB2	7592089	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.857000	0.39399	1.021000	0.39600	0.467000	0.42956	CGC		0.627	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	177	0	0	0	1	0	6	177				
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs189049364		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	230								p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.S230C(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.(688-690)tCt>tGt		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132905792G>C			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.689C>G	2.37:g.132905792G>C	ENSP00000386398:p.Ser230Cys					ANKRD30BL_ENST00000470729.1_5'UTR	p.S230C							6	938	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.689C>G		.	.	.	.	.	.	.	.	.	.	.	8.999	0.979581	0.18812	.	.	ENSG00000163046	ENST00000409867	T	0.38560	1.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.35671	T	0.21	.	.	.	.	.	.	.	.	C	230	ENSP00000386398:S230C	ENSP00000386398:S230C	S	-	2	0	ANKRD30BL	132622262	0.200000	0.23398	0.088000	0.20740	0.105000	0.19272	0.320000	0.19540	0.181000	0.19994	0.184000	0.17185	TCT		0.443	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		8	85	0	0	0	1	0	8	85				
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs369312237|rs62430309	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16.0	21.0	19.0					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	109	0	0	0	1	0	8	109				
GRM6	2916	broad.mit.edu	37	5	178413297	178413297	+	Missense_Mutation	SNP	C	C	T	rs62638622	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:178413297C>T	ENST00000517717.1	-	9	1996	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R653H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	653					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAAGAGCCTGCGGGCGGCACA	0.642																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1957-1959)cGc>cAc		glutamate receptor, metabotropic 6		C	HIS/ARG	0,4406		0,0,2203	39.0	42.0	41.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1958	5.0	0.1	5	dbSNP_129	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GRM6	NM_000843.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	653/878	178413297	2,13004	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413297C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1958G>A	5.37:g.178413297C>T	ENSP00000430767:p.Arg653His					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R653H	p.R653H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2136	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	653						Missense_Mutation	SNP	ENST00000517717.1	37	c.1958G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471230	0.63625	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90676	-2.71;-2.71	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96087	0.8725	M	0.90425	3.115	0.58432	D	0.999997	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.581	D	0.96814	0.9599	9	0.87932	D	0	.	16.2011	0.82078	0.0:1.0:0.0:0.0	rs62638622	809;653	E7EX65;O15303	.;GRM6_HUMAN	H	809;653;653	ENSP00000231188:R653H;ENSP00000430767:R653H	ENSP00000231188:R653H	R	-	2	0	GRM6	178345903	1.000000	0.71417	0.091000	0.20842	0.116000	0.19942	7.658000	0.83755	2.495000	0.84180	0.462000	0.41574	CGC		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	97	0	0	0	1	0	4	97				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			6	346	0	0	0	1	0	6	346				
ALPP	250	broad.mit.edu	37	2	233244240	233244240	+	Silent	SNP	A	A	G	rs1130342		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244240A>G	ENST00000392027.2	+	4	596	c.327A>G	c.(325-327)aaA>aaG	p.K109K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	109					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ATGTAGACAAACATGTGCCAG	0.567																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(325-327)aaA>aaG		alkaline phosphatase, placental																																				SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244240A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.327A>G	2.37:g.233244240A>G							p.K109K	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	596	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	109					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.327A>G	CCDS2490.1																																																																																				0.567	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		8	117	0	0	0	1	0	8	117				
SLC6A17	388662	broad.mit.edu	37	1	110738217	110738217	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:110738217G>A	ENST00000331565.4	+	10	1987	c.1502G>A	c.(1501-1503)tGt>tAt	p.C501Y		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	501					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGGCTGCTGTGTCTTTGCA	0.637																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1501-1503)tGt>tAt		solute carrier family 6 (neutral amino acid transporter), member 17							81.0	74.0	76.0					1																	110738217		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738217G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1502G>A	1.37:g.110738217G>A	ENSP00000330199:p.Cys501Tyr						p.C501Y	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	1987	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	501					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1502G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983175	0.93044	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76186	-1.0	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94494	0.7704	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	501	Q9H1V8	S6A17_HUMAN	Y	501	ENSP00000330199:C501Y	ENSP00000330199:C501Y	C	+	2	0	SLC6A17	110539740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	TGT		0.637	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		107	103	0	0	0	1	0	107	103				
GBA	2629	broad.mit.edu	37	1	155205555	155205555	+	Missense_Mutation	SNP	G	G	T	rs80356768		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:155205555G>T	ENST00000327247.5	-	10	1537	c.1305C>A	c.(1303-1305)aaC>aaA	p.N435K	GBA_ENST00000428024.3_Missense_Mutation_p.N348K|GBA_ENST00000368373.3_Missense_Mutation_p.N435K|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000427500.3_Missense_Mutation_p.N386K|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Missense_Mutation_p.N322K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	435			N -> T (in GD1; mild). {ECO:0000269|PubMed:8889591}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TGTCGACAAAGTTACGCACCC	0.547									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(1042-1044)aaC>aaA		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						141.0	109.0	120.0					1																	155205555		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155205555G>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1305C>A	1.37:g.155205555G>T	ENSP00000314508:p.Asn435Lys					GBA_ENST00000427500.2_Missense_Mutation_p.N386K|GBA_ENST00000536770.1_Missense_Mutation_p.N322K|GBA_ENST00000327247.5_Missense_Mutation_p.N435K|GBA_ENST00000368373.3_Missense_Mutation_p.N435K	p.N348K	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1546	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		435		A -> V (in GD).			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.1044C>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569455	0.45798	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	4.95	3.07	0.35406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	M	0.93939	3.475	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.994	D	0.99748	1.1017	10	0.87932	D	0	.	9.7187	0.40289	0.247:0.0:0.753:0.0	.	386;322;435	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	K	386;348;435;435;322;392;420	ENSP00000402577:N386K;ENSP00000397986:N348K;ENSP00000357357:N435K;ENSP00000314508:N435K;ENSP00000445560:N322K	ENSP00000314508:N435K	N	-	3	2	GBA	153472179	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.486000	0.53215	0.379000	0.24794	-0.797000	0.03246	AAC		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		33	144	1	0	4.3181e-19	1	4.55221e-19	33	144				
KRT82	3888	broad.mit.edu	37	12	52793858	52793858	+	Missense_Mutation	SNP	C	C	T	rs529536223		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:52793858C>T	ENST00000257974.2	-	5	930	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	285	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.V285M(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCCGTCCACGTCCAGCTCC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20645	0.0		0.0	False		,,,				2504	0.0					ENST00000257974.2																			1	Substitution - Missense(1)	p.V285M(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(853-855)Gtg>Atg		keratin 82							102.0	86.0	92.0					12																	52793858		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793858C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.853G>A	12.37:g.52793858C>T	ENSP00000257974:p.Val285Met					RP3-416H24.4_ENST00000547174.1_RNA	p.V285M	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	930	-			285			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.853G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181497	0.01633	.	.	ENSG00000161850	ENST00000257974	D	0.88586	-2.4	5.18	1.04	0.20106	Filament (1);	0.532611	0.15770	N	0.245495	T	0.53916	0.1826	N	0.00186	-1.895	0.27603	N	0.948893	B	0.24533	0.105	B	0.21151	0.033	T	0.58393	-0.7644	10	0.10111	T	0.7	.	1.6566	0.02782	0.1103:0.3451:0.2299:0.3147	.	285	Q9NSB4	KRT82_HUMAN	M	285	ENSP00000257974:V285M	ENSP00000257974:V285M	V	-	1	0	KRT82	51080125	0.002000	0.14202	0.002000	0.10522	0.523000	0.34469	-0.851000	0.04313	0.300000	0.22699	0.561000	0.74099	GTG		0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		6	262	0	0	0	1	0	6	262				
JAK2	3717	broad.mit.edu	37	9	5064981	5064981	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr9:5064981A>G	ENST00000381652.3	+	9	1649	c.1155A>G	c.(1153-1155)aaA>aaG	p.K385K	JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	385					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCTCTGTAAAGAAGTAGCAC	0.348		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1153-1155)aaA>aaG		Janus kinase 2							83.0	80.0	81.0					9																	5064981		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5064981A>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1155A>G	9.37:g.5064981A>G						JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	p.K385K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	9	1649	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	385					O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.1155A>G	CCDS6457.1																																																																																				0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			68	78	0	0	0	1	0	68	78				
FAT2	2196	broad.mit.edu	37	5	150891812	150891812	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:150891812G>A	ENST00000261800.5	-	20	11831	c.11819C>T	c.(11818-11820)gCc>gTc	p.A3940V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3940	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGAGGGCTTGTGTCTC	0.607																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11818-11820)gCc>gTc		FAT atypical cadherin 2							68.0	60.0	63.0					5																	150891812		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150891812G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11819C>T	5.37:g.150891812G>A	ENSP00000261800:p.Ala3940Val					CTC-251D13.1_ENST00000606930.1_RNA	p.A3940V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11831	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3940			Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11819C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369196	0.05069	.	.	ENSG00000086570	ENST00000261800	T	0.69561	-0.41	5.16	3.33	0.38152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.459686	0.18025	N	0.154102	T	0.59293	0.2183	L	0.51422	1.61	0.09310	N	1	B;B	0.32245	0.361;0.136	B;B	0.35470	0.203;0.042	T	0.47484	-0.9114	10	0.29301	T	0.29	.	9.7829	0.40660	0.0:0.3639:0.503:0.1331	.	3940;1045	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3940	ENSP00000261800:A3940V	ENSP00000261800:A3940V	A	-	2	0	FAT2	150872005	0.971000	0.33674	0.132000	0.22025	0.017000	0.09413	1.409000	0.34680	0.638000	0.30545	-0.121000	0.15023	GCC		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		47	158	0	0	0	1	0	47	158				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		4	65	0	0	0	1	0	4	65				
CRYZL1	9946	broad.mit.edu	37	21	34969588	34969588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:34969588G>A	ENST00000381554.3	-	10	881	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.Q290*|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	266					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GATAGTACCTGAAGGTTTTCT	0.373																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(868-870)Cag>Tag		crystallin, zeta (quinone reductase)-like 1							200.0	186.0	191.0					21																	34969588		2203	4300	6503	SO:0001587	stop_gained	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34969588G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.796C>T	21.37:g.34969588G>A	ENSP00000370966:p.Gln266*					CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*	p.Q290*			O95825	QORL1_HUMAN			11	1007	-			266					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Nonsense_Mutation	SNP	ENST00000381554.3	37	c.868C>T	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674981|4.674981	0.88445|0.88445	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534|ENST00000441940;ENST00000440526	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74854	.|0.3771	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73461	.|-0.3975	.|4	0.42905|.	T|.	0.14|.	-16.5157|-16.5157	18.807|18.807	0.92041|0.92041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	266;251;266;290|41;209	.|.	ENSP00000290244:Q251X|.	Q|S	-|-	1|2	0|0	CRYZL1|CRYZL1	33891458|33891458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.661000|7.661000	0.83786|0.83786	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.373	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		120	253	0	0	0	1	0	120	253				
C10orf71	118461	broad.mit.edu	37	10	50532116	50532116	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:50532116G>A	ENST00000374144.3	+	3	1814	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	509										endometrium(1)	1						GTGCGGAAGCGTGTTAAGAGC	0.493																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1525-1527)cGt>cAt		chromosome 10 open reading frame 71							58.0	62.0	61.0					10																	50532116		2071	4202	6273	SO:0001583	missense	118461							g.chr10:50532116G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1526G>A	10.37:g.50532116G>A	ENSP00000363259:p.Arg509His					C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H	p.R509H			Q711Q0	CJ071_HUMAN			3	1814	+			509					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1526G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552873	0.86127	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.20881	2.04;3.13	5.48	4.57	0.56435	.	0.401374	0.18493	N	0.139596	T	0.22244	0.0536	M	0.64997	1.995	0.42570	D	0.993178	P	0.46859	0.885	B	0.35688	0.208	T	0.10428	-1.0630	10	0.87932	D	0	.	14.0709	0.64858	0.0726:0.0:0.9274:0.0	.	509	Q711Q0-3	.	H	509	ENSP00000318713:R509H;ENSP00000363259:R509H	ENSP00000318713:R509H	R	+	2	0	C10orf71	50202122	0.918000	0.31147	0.862000	0.33874	0.940000	0.58332	3.531000	0.53546	1.320000	0.45209	0.586000	0.80456	CGT		0.493	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		50	121	0	0	0	1	0	50	121				
MUC16	94025	broad.mit.edu	37	19	9064926	9064926	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9064926G>A	ENST00000397910.4	-	3	22723	c.22520C>T	c.(22519-22521)gCa>gTa	p.A7507V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7509	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTACCCATTGCCGATGTGGC	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22519-22521)gCa>gTa		mucin 16, cell surface associated							169.0	161.0	163.0					19																	9064926		1975	4151	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064926G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22520C>T	19.37:g.9064926G>A	ENSP00000381008:p.Ala7507Val						p.A7507V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22723	-			7509			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22520C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.534	0.659360	0.14645	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.91	0.462	0.16695	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	.	.	.	B	0.22146	0.065	B	0.19148	0.024	T	0.18241	-1.0343	8	0.87932	D	0	.	5.4895	0.16769	0.0:0.2195:0.5554:0.2251	.	7507	B5ME49	.	V	7507	ENSP00000381008:A7507V	ENSP00000381008:A7507V	A	-	2	0	MUC16	8925926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.221000	0.17680	0.201000	0.20466	0.508000	0.49915	GCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		107	257	0	0	0	1	0	107	257				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	0							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		4	121	0	0	0	1	0	4	121				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	618	0	0	0	1	0	14	618				
NPIPB5	100132247	broad.mit.edu	37	16	22546277	22546277	+	Missense_Mutation	SNP	G	G	T	rs555070486		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:22546277G>T	ENST00000517539.1	+	8	2048	c.1973G>T	c.(1972-1974)gGc>gTc	p.G658V	NPIPB5_ENST00000424340.1_Missense_Mutation_p.G658V|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	658	Pro-rich.					integral component of membrane (GO:0016021)											GTCTGCGGGGGCCGCTTCCAC	0.567													.|||	1	0.000199681	0.0	0.0014	5008	,	,		33394	0.0		0.0	False		,,,				2504	0.0					ENST00000424340.1																			0											c.(1972-1974)gGc>gTc		nuclear pore complex interacting protein family, member B5							3.0	4.0	4.0					16																	22546277		612	1437	2049	SO:0001583	missense	100132247							g.chr16:22546277G>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1973G>T	16.37:g.22546277G>T	ENSP00000430633:p.Gly658Val					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.G658V	p.G658V	NM_001135865.1	NP_001129337.1					7	2252	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1973G>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.180	-1.062670	0.01950	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.25749	1.78;1.78	.	.	.	.	.	.	.	.	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	0.30854	T	0.27	.	.	.	.	.	651;658	F5GWX0;A8MRT5	.;K220L_HUMAN	V	658;651;415;536;658	ENSP00000440703:G658V;ENSP00000430633:G658V	ENSP00000441680:G651V	G	+	2	0	RP11-368J21.2	22453778	0.001000	0.12720	.	.	.	.	-2.274000	0.01163	.	.	.	.	GGC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		10	736	1	0	0.000442599	1	0.000445143	10	736				
KMT2C	58508	broad.mit.edu	37	7	151917775	151917775	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:151917775G>C	ENST00000262189.6	-	23	3763	c.3545C>G	c.(3544-3546)tCa>tGa	p.S1182*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1182*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1182					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTCATCCCTGATTCAGTCAA	0.368																																						ENST00000355193.2																			0											c.(3544-3546)tCa>tGa		lysine (K)-specific methyltransferase 2C							60.0	57.0	58.0					7																	151917775		2203	4297	6500	SO:0001587	stop_gained	58508							g.chr7:151917775G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3545C>G	7.37:g.151917775G>C	ENSP00000262189:p.Ser1182*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1182*	p.S1182*							23	3763	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3545C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	44	10.795837	0.99469	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.37053	U	0.002279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1182	.	ENSP00000262189:S1182X	S	-	2	0	MLL3	151548708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.193000	0.65120	2.161000	0.67846	0.484000	0.47621	TCA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			77	191	0	0	0	1	0	77	191				
PHF3	23469	broad.mit.edu	37	6	64413504	64413504	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413504G>C	ENST00000262043.3	+	11	3650	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H			Q92576	PHF3_HUMAN	PHD finger protein 3	1104					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TATGTCTAAAGATACCACTAG	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3310-3312)Gat>Cat		PHD finger protein 3							107.0	107.0	107.0					6																	64413504		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413504G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3310G>C	6.37:g.64413504G>C	ENSP00000262043:p.Asp1104His					PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H	p.D1104H			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3650	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1104					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3310G>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133046	0.56828	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.59906	1.23;0.23;1.63;1.63	5.78	5.78	0.91487	.	0.000000	0.37348	N	0.002136	T	0.71247	0.3317	M	0.82193	2.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.75249	-0.3384	10	0.66056	D	0.02	-23.8579	12.4924	0.55907	0.0767:0.0:0.9233:0.0	.	1104	Q92576	PHF3_HUMAN	H	918;373;1104;1104	ENSP00000424694:D918H;ENSP00000425338:D373H;ENSP00000262043:D1104H;ENSP00000377048:D1104H	ENSP00000262043:D1104H	D	+	1	0	PHF3	64471463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.246000	0.78247	2.716000	0.92895	0.591000	0.81541	GAT		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			29	332	0	0	0	1	0	29	332				
MSL3	10943	broad.mit.edu	37	X	11783721	11783721	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:11783721G>C	ENST00000312196.4	+	9	1149	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	MSL3_ENST00000361672.2_Silent_p.L199L|MSL3_ENST00000380693.3_Silent_p.L182L|MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000337339.2_Silent_p.L348L	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	348	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGCAGTCTCTGAGGCGGTCCA	0.617																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1042-1044)ctG>ctC		male-specific lethal 3 homolog (Drosophila)							104.0	103.0	103.0					X																	11783721		2203	4300	6503	SO:0001819	synonymous_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783721G>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1044G>C	X.37:g.11783721G>C						MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000380693.3_Silent_p.L182L|MSL3_ENST00000312196.4_Silent_p.L348L|MSL3_ENST00000361672.2_Silent_p.L199L	p.L348L	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1071	+			348					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	ENST00000312196.4	37	c.1044G>C	CCDS14147.1																																																																																				0.617	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		4	352	0	0	0	1	0	4	352				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	158	0	0	0	1	0	4	158				
TRAK1	22906	broad.mit.edu	37	3	42251691	42251691	+	Intron	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:42251691T>G	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_Missense_Mutation_p.V668G|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCACCTCTGTTCCAGGCACC	0.512																																					GBM(44;195 884 22595 31865 41850)	ENST00000341421.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2002-2004)gTt>gGt		trafficking protein, kinesin binding 1							256.0	273.0	267.0					3																	42251691		2203	4300	6503	SO:0001627	intron_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42251691T>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+214T>G	3.37:g.42251691T>G						TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron	p.V668G	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN			13	2196	+			0					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2003T>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757085	0.49468	.	.	ENSG00000182606	ENST00000341421	T	0.10005	2.92	5.11	5.11	0.69529	.	.	.	.	.	T	0.09598	0.0236	N	0.14661	0.345	0.37486	D	0.916183	.	.	.	.	.	.	T	0.44667	-0.9313	6	.	.	.	.	12.9395	0.58335	0.0:0.0:0.0:1.0	.	.	.	.	G	668	ENSP00000340702:V668G	.	V	+	2	0	TRAK1	42226695	0.995000	0.38212	0.969000	0.41365	0.988000	0.76386	3.462000	0.53042	2.043000	0.60533	0.533000	0.62120	GTT		0.512	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		405	480	0	0	0	1	0	405	480				
BARD1	580	broad.mit.edu	37	2	215645418	215645418	+	Missense_Mutation	SNP	T	T	C	rs587782548		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:215645418T>C	ENST00000260947.4	-	4	1314	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	394					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGTGGTGTACCTGGTGAA	0.418									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1180-1182)Aca>Gca		BRCA1 associated RING domain 1							180.0	158.0	165.0					2																	215645418		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645418T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1180A>G	2.37:g.215645418T>C	ENSP00000260947:p.Thr394Ala					BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	p.T394A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1314	-		Renal(323;0.0243)	394					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1180A>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172231	0.38315	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74421	-0.84;-0.23	5.24	4.05	0.47172	.	0.507037	0.19811	N	0.105540	T	0.70806	0.3266	M	0.71581	2.175	0.26675	N	0.971643	B;B	0.30406	0.278;0.172	B;B	0.24974	0.057;0.039	T	0.64415	-0.6413	10	0.56958	D	0.05	-0.3721	11.0331	0.47785	0.0:0.0:0.2982:0.7018	.	250;394	E7EUI3;Q99728	.;BARD1_HUMAN	A	394;250	ENSP00000260947:T394A;ENSP00000406752:T250A	ENSP00000260947:T394A	T	-	1	0	BARD1	215353663	0.001000	0.12720	0.030000	0.17652	0.101000	0.19017	0.916000	0.28651	0.796000	0.33947	0.379000	0.24179	ACA		0.418	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		47	293	0	0	0	1	0	47	293				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	282	0	0	0	1	0	5	282				
FAM135B	51059	broad.mit.edu	37	8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCACTGTCCGTAAAGTGCAG	0.458										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(352-354)aCg>aTg		family with sequence similarity 135, member B							106.0	102.0	103.0					8																	139268947		1973	4164	6137	SO:0001583	missense	51059							g.chr8:139268947G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.353C>T	8.37:g.139268947G>A	ENSP00000378710:p.Thr118Met	HNSCC(54;0.14)					p.T118M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	523	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		118					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.353C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	FAM135B	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	194	0	0	0	1	0	14	194				
ATF7IP2	80063	broad.mit.edu	37	16	10524582	10524582	+	Silent	SNP	T	T	C	rs187860514		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:10524582T>C	ENST00000396560.2	+	3	332	c.105T>C	c.(103-105)gtT>gtC	p.V35V	ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.V35V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CAAGGAATGTTGAAGCGCTGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		17610	0.0		0.001	False		,,,				2504	0.0					ENST00000396560.2																			0				large_intestine(3)	3						c.(103-105)gtT>gtC		activating transcription factor 7 interacting protein 2							82.0	77.0	78.0					16																	10524582		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524582T>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.105T>C	16.37:g.10524582T>C						ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron	p.V35V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	332	+			35					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.105T>C	CCDS10540.1																																																																																				0.413	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		89	199	0	0	0	1	0	89	199				
PCDHGB7	56099	broad.mit.edu	37	5	140799542	140799542	+	Missense_Mutation	SNP	G	G	A	rs372316838		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:140799542G>A	ENST00000398594.2	+	1	2116	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.557																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(2116-2118)Gcg>Acg				G	,,,,,,,,,,,,,,,THR/ALA,,THR/ALA	0,4324		0,0,2162	100.0	105.0	103.0		,,,,,,,,,,,,,,,2116,,2116	1.4	0.0	5		103	2,8512		0,2,4255	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,58,,58	0,2,6417	AA,AG,GG		0.0235,0.0,0.0156	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,706/930,,706/809	140799542	2,12836	2162	4257	6419	SO:0001583	missense	0							g.chr5:140799542G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2116G>A	5.37:g.140799542G>A	ENSP00000381594:p.Ala706Thr					PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.A706T	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2116	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2116G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.656858	0.00779	0.0	2.35E-4	ENSG00000254122	ENST00000398594	T	0.14640	2.49	5.77	1.43	0.22495	.	0.277852	0.18696	U	0.133734	T	0.07279	0.0184	L	0.31578	0.945	0.09310	N	1	B;B	0.28470	0.213;0.141	B;B	0.25884	0.021;0.064	T	0.37430	-0.9706	10	0.13853	T	0.58	.	4.5122	0.11917	0.3841:0.0:0.4673:0.1486	.	706;706	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	706	ENSP00000381594:A706T	ENSP00000381594:A706T	A	+	1	0	PCDHGB7	140779726	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	1.191000	0.32138	0.352000	0.24053	0.561000	0.74099	GCG		0.557	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		114	214	0	0	0	1	0	114	214				
TRPM1	4308	broad.mit.edu	37	15	31334358	31334358	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:31334358C>A	ENST00000256552.6	-	17	2030	c.1883G>T	c.(1882-1884)aGt>aTt	p.S628I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000542188.1_Missense_Mutation_p.S645I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGAACCGACTCACGGCAGG	0.517																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1933-1935)aGt>aTt		transient receptor potential cation channel, subfamily M, member 1							67.0	75.0	72.0					15																	31334358		2168	4279	6447	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334358C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1883G>T	15.37:g.31334358C>A	ENSP00000256552:p.Ser628Ile					RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000256552.6_Missense_Mutation_p.S628I	p.S645I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2247	-		all_lung(180;1.92e-11)	606						Missense_Mutation	SNP	ENST00000256552.6	37	c.1934G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240885	0.79912	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.69926	-0.44;-0.44;-0.44	4.72	4.72	0.59763	.	0.042793	0.85682	D	0.000000	T	0.62196	0.2408	L	0.40543	1.245	0.80722	D	1	B;P	0.34934	0.137;0.476	B;B	0.36186	0.219;0.157	T	0.67995	-0.5526	10	0.87932	D	0	-20.8878	18.0463	0.89334	0.0:1.0:0.0:0.0	.	600;606	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	606;645;628;606	ENSP00000380897:S606I;ENSP00000437849:S645I;ENSP00000256552:S628I	ENSP00000256552:S628I	S	-	2	0	TRPM1	29121650	1.000000	0.71417	0.905000	0.35620	0.749000	0.42624	7.743000	0.85020	2.304000	0.77564	0.655000	0.94253	AGT		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		40	81	1	0	1.06522e-23	1	1.13667e-23	40	81				
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A	rs543366380	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTATGATCGGCATGCTTTTC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.002					ENST00000040738.5																			0											c.(3589-3591)gCc>gTc		biorientation of chromosomes in cell division 1-like 1							158.0	165.0	163.0					4																	13604934		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604934G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val						p.A1197V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3725	-			1197					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3590C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	879	0	0	0	1	0	7	879				
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). {ECO:0000269|PubMed:15235604}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.R537C(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809	c.(1609-1611)Cgc>Tgc		transforming growth factor, beta receptor II (70/80kDa)							83.0	80.0	81.0					3																	30732996		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732996C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1609C>T	3.37:g.30732996C>T	ENSP00000295754:p.Arg537Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	p.R537C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1991	+			537		R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1609C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	TGFBR2	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC		0.577	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			120	129	0	0	0	1	0	120	129				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	778	0	0	0	1	0	9	778				
KLHL42	57542	broad.mit.edu	37	12	27950726	27950726	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:27950726G>A	ENST00000381271.2	+	3	1456	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	382					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTCCACATTCGCAAGCAGCAG	0.542																																						ENST00000381271.2																			0											c.(1144-1146)cGc>cAc		kelch-like family member 42							159.0	154.0	156.0					12																	27950726		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950726G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1145G>A	12.37:g.27950726G>A	ENSP00000370671:p.Arg382His						p.R382H	NM_020782.1	NP_065833.1					3	1456	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1145G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536505	0.85812	.	.	ENSG00000087448	ENST00000381271	T	0.67523	-0.27	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73297	-0.4027	10	0.15066	T	0.55	.	17.9151	0.88947	0.0:0.0:1.0:0.0	.	382	Q9P2K6	KLDC5_HUMAN	H	382	ENSP00000370671:R382H	ENSP00000370671:R382H	R	+	2	0	KLHDC5	27841993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.193000	0.94954	2.452000	0.82932	0.561000	0.74099	CGC		0.542	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		8	1014	0	0	0	1	0	8	1014				
PCSK7	9159	broad.mit.edu	37	11	117079612	117079612	+	Splice_Site	SNP	C	C	T	rs145370185	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:117079612C>T	ENST00000320934.3	-	13	2322		c.e13+1		PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Splice_Site	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGTACATACGAGTCCATGC	0.582			T	IGH@	MLCLS								C|||	6	0.00119808	0.0008	0.0029	5008	,	,		28569	0.0		0.002	False		,,,				2504	0.001					ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.e13+1		proprotein convertase subtilisin/kexin type 7		C		2,4400	2.1+/-5.4	0,2,2199	33.0	36.0	35.0			4.6	1.0	11	dbSNP_134	35	17,8575	11.2+/-40.8	0,17,4279	no	splice-5	PCSK7	NM_004716.2		0,19,6478	TT,TC,CC		0.1979,0.0454,0.1462			117079612	19,12975	2201	4296	6497	SO:0001630	splice_region_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117079612C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1691+1G>A	11.37:g.117079612C>T						PCSK7_ENST00000540028.1_Splice_Site		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	13	2322	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Splice_Site	SNP	ENST00000320934.3	37		CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637607	0.29157	4.54E-4	0.001979	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0225	0.58796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK7	116584822	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	7.075000	0.76798	2.531000	0.85337	0.467000	0.42956	.		0.582	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716	Intron	13	57	0	0	0	1	0	13	57				
PHF3	23469	broad.mit.edu	37	6	64412409	64412409	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64412409G>T	ENST00000262043.3	+	10	3451	c.3111G>T	c.(3109-3111)atG>atT	p.M1037I	PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I			Q92576	PHF3_HUMAN	PHD finger protein 3	1037	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATAGAAATGATTGAGAAAG	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3109-3111)atG>atT		PHD finger protein 3							62.0	58.0	59.0					6																	64412409		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64412409G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3111G>T	6.37:g.64412409G>T	ENSP00000262043:p.Met1037Ile					PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I	p.M1037I			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		10	3451	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1037			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3111G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971366	0.74246	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.46819	2.09;0.86;2.13;2.13	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (2);	0.000000	0.48286	D	0.000195	T	0.41696	0.1170	L	0.39147	1.195	0.80722	D	1	P	0.52842	0.956	P	0.48982	0.597	T	0.33189	-0.9878	10	0.52906	T	0.07	-16.5771	19.3501	0.94379	0.0:0.0:1.0:0.0	.	1037	Q92576	PHF3_HUMAN	I	851;306;1037;1037	ENSP00000424694:M851I;ENSP00000425338:M306I;ENSP00000262043:M1037I;ENSP00000377048:M1037I	ENSP00000262043:M1037I	M	+	3	0	PHF3	64470368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.773000	0.98989	2.576000	0.86940	0.591000	0.81541	ATG		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			38	207	1	0	3.76114e-14	1	3.91785e-14	38	207				
PHF3	23469	broad.mit.edu	37	6	64413449	64413449	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413449G>A	ENST00000262043.3	+	11	3595	c.3255G>A	c.(3253-3255)ttG>ttA	p.L1085L	PHF3_ENST00000393387.1_Silent_p.L1085L			Q92576	PHF3_HUMAN	PHD finger protein 3	1085					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAGTCATTGGAGAAGCCAG	0.353																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3253-3255)ttG>ttA		PHD finger protein 3							78.0	82.0	81.0					6																	64413449		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413449G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3255G>A	6.37:g.64413449G>A						PHF3_ENST00000393387.1_Silent_p.L1085L	p.L1085L			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3595	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1085					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.3255G>A	CCDS4966.1																																																																																				0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			30	240	0	0	0	1	0	30	240				
LPIN1	23175	broad.mit.edu	37	2	11935562	11935562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:11935562G>A	ENST00000256720.2	+	13	1820	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	576					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCTTGGCTGGCAAGGCCCAT	0.557																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1726-1728)gGc>gAc		lipin 1							57.0	58.0	58.0					2																	11935562		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11935562G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1727G>A	2.37:g.11935562G>A	ENSP00000256720:p.Gly576Asp					LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D	p.G576D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	13	1820	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		576					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1727G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176287	0.21704	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80738	-1.41;-1.4;-1.38;-1.38;-1.24;-0.39;0.52	4.62	3.72	0.42706	.	0.160285	0.56097	D	0.000028	T	0.77164	0.4090	M	0.65975	2.015	0.38288	D	0.942626	B;B;B	0.14805	0.0;0.011;0.008	B;B;B	0.15870	0.002;0.014;0.007	T	0.73297	-0.4027	10	0.30854	T	0.27	-16.8688	12.3844	0.55325	0.0:0.1712:0.8288:0.0	.	77;661;576	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	D	661;618;582;576;306;77;103	ENSP00000397908:G661D;ENSP00000379406:G618D;ENSP00000401522:G582D;ENSP00000256720:G576D;ENSP00000379404:G306D;ENSP00000386120:G77D;ENSP00000413714:G103D	ENSP00000256720:G576D	G	+	2	0	LPIN1	11853013	0.713000	0.27926	0.024000	0.17045	0.016000	0.09150	2.551000	0.45820	0.923000	0.37045	0.655000	0.94253	GGC		0.557	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		5	363	0	0	0	1	0	5	363				
ZIC5	85416	broad.mit.edu	37	13	100622524	100622524	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:100622524C>T	ENST00000267294.4	-	1	1639	c.1406G>A	c.(1405-1407)gGc>gAc	p.G469D		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	469					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGGGCTTGCCCTCGCGCGG	0.637																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1405-1407)gGc>gAc		Zic family member 5							125.0	114.0	118.0					13																	100622524		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622524C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1406G>A	13.37:g.100622524C>T	ENSP00000267294:p.Gly469Asp						p.G469D	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1639	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		469					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1406G>A	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479834	0.84747	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.35236	1.32	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56124	0.1964	L	0.60845	1.875	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.60865	-0.7178	9	0.66056	D	0.02	.	15.2876	0.73838	0.0:1.0:0.0:0.0	.	469	Q96T25	ZIC5_HUMAN	D	107;469	ENSP00000267294:G469D	ENSP00000267294:G469D	G	-	2	0	ZIC5	99420525	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.656000	0.67988	1.852000	0.53769	0.313000	0.20887	GGC		0.637	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	413	0	0	0	1	0	5	413				
PLXNB1	5364	broad.mit.edu	37	3	48462686	48462686	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:48462686C>T	ENST00000358536.4	-	8	2030	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	587					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGAGGGGCACATCACACCAG	0.642																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1759-1761)atG>atA		plexin B1							67.0	68.0	68.0					3																	48462686		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48462686C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1761G>A	3.37:g.48462686C>T	ENSP00000351338:p.Met587Ile					PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	2030	-			587					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1761G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408216	0.11754	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	5.02	5.02	0.67125	.	0.169599	0.52532	D	0.000070	T	0.02533	0.0077	N	0.13352	0.335	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.58239	-0.7671	10	0.21014	T	0.42	.	16.9108	0.86139	0.0:1.0:0.0:0.0	.	587;587	O43157;O43157-2	PLXB1_HUMAN;.	I	587	ENSP00000296440:M587I;ENSP00000351242:M587I;ENSP00000351338:M587I;ENSP00000414199:M587I	ENSP00000296440:M587I	M	-	3	0	PLXNB1	48437690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.851000	0.39338	2.350000	0.79820	0.561000	0.74099	ATG		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		149	179	0	0	0	1	0	149	179				
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	rs368693433		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219.0	213.0	215.0		,5849	5.6	0.0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	1.37:g.197072532G>A	ENSP00000356379:p.Ala1950Val					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.A1950V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6105	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5849C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	1201	0	0	0	1	0	9	1201				
MARK2	2011	broad.mit.edu	37	11	63665747	63665747	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:63665747A>G	ENST00000509502.2	+	4	696	c.233A>G	c.(232-234)aAc>aGc	p.N78S	MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S|MARK2_ENST00000402010.2_Missense_Mutation_p.N111S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCATCCCAACATAGGTGAG	0.478																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(331-333)aAc>aGc		MAP/microtubule affinity-regulating kinase 2							192.0	184.0	187.0					11																	63665747		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63665747A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.233A>G	11.37:g.63665747A>G	ENSP00000423974:p.Asn78Ser					MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S|MARK2_ENST00000509502.2_Missense_Mutation_p.N78S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S	p.N111S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			4	911	+			111			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.332A>G	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683613	0.88639	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.17	5.17	0.71159	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	0.62036	0.2395	M	0.80508	2.5	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.998;0.939;0.999;1.0;0.987	D;P;P;D;D;P	0.87578	0.996;0.796;0.448;0.982;0.998;0.719	T	0.67677	-0.5609	10	0.87932	D	0	.	14.1235	0.65205	1.0:0.0:0.0:0.0	.	78;78;111;111;111;111	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	111;111;111;111;78;111;111;111;111;78;78;78;78;78;78	ENSP00000385751:N111S;ENSP00000326632:N111S;ENSP00000367040:N111S;ENSP00000389184:N111S;ENSP00000367041:N78S;ENSP00000425765:N111S;ENSP00000355091:N111S;ENSP00000294247:N111S;ENSP00000444956:N78S;ENSP00000437509:N78S;ENSP00000423974:N78S;ENSP00000421075:N78S;ENSP00000386128:N78S;ENSP00000415494:N78S	ENSP00000326632:N111S	N	+	2	0	MARK2	63422323	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.117000	0.94347	2.171000	0.68590	0.460000	0.39030	AAC		0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		173	502	0	0	0	1	0	173	502				
PDLIM3	27295	broad.mit.edu	37	4	186423581	186423581	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:186423581G>A	ENST00000284770.5	-	8	1035	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	321	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTTGCAGTCGGCACACACGAA	0.557																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(961-963)gCc>gTc		PDZ and LIM domain 3							129.0	115.0	120.0					4																	186423581		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186423581G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.962C>T	4.37:g.186423581G>A	ENSP00000284770:p.Ala321Val					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V	p.A321V	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1035	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	321			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.962C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047505	0.75846	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	D;D	0.88277	-2.36;-2.36	5.5	5.5	0.81552	Zinc finger, LIM-type (5);	0.104803	0.64402	D	0.000002	D	0.87293	0.6141	L	0.28649	0.875	0.80722	D	1	B;B	0.32302	0.363;0.24	B;B	0.39935	0.209;0.314	D	0.86544	0.1830	10	0.72032	D	0.01	-24.6852	19.757	0.96298	0.0:0.0:1.0:0.0	.	273;321	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	V	321;273	ENSP00000284770:A321V;ENSP00000284771:A273V	ENSP00000284770:A321V	A	-	2	0	PDLIM3	186660575	1.000000	0.71417	0.748000	0.31131	0.843000	0.47879	7.823000	0.86660	2.758000	0.94735	0.561000	0.74099	GCC		0.557	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		7	576	0	0	0	1	0	7	576				
GABBR1	2550	broad.mit.edu	37	6	29581055	29581055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:29581055G>A	ENST00000377034.4	-	12	1866	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	GABBR1_ENST00000377016.4_Missense_Mutation_p.R449W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R394W|GABBR1_ENST00000376977.3_Missense_Mutation_p.R511W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R394W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	511					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TTCATTGCCCGGTAGATTTGG	0.527																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1531-1533)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						121.0	135.0	130.0					6																	29581055		1510	2708	4218	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29581055G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1531C>T	6.37:g.29581055G>A	ENSP00000366233:p.Arg511Trp					GABBR1_ENST00000377016.4_Missense_Mutation_p.R449W|GABBR1_ENST00000376977.3_Missense_Mutation_p.R511W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R394W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R394W	p.R511W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			12	1866	-			511					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1531C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938510	0.73557	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.95	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.103697	0.56097	D	0.000021	D	0.87557	0.6207	M	0.69823	2.125	0.58432	D	0.999991	D;D;D;D	0.76494	0.999;0.998;0.996;0.999	P;P;P;D	0.63113	0.877;0.847;0.861;0.911	D	0.89000	0.3421	10	0.72032	D	0.01	-12.476	11.7244	0.51702	0.0:0.0:0.5621:0.4379	.	511;449;511;394	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	W	394;511;449;394;511	ENSP00000348248:R394W;ENSP00000366176:R511W;ENSP00000366215:R449W;ENSP00000366211:R394W;ENSP00000366233:R511W	ENSP00000348248:R394W	R	-	1	2	GABBR1	29689034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.957000	0.29215	1.502000	0.48669	0.655000	0.94253	CGG		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	448	0	0	0	1	0	6	448				
CFAP45	25790	broad.mit.edu	37	1	159856380	159856380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:159856380G>A	ENST00000368099.4	-	6	752	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q145*	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCATCATCTGATCCAACCGC	0.483																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(433-435)Cag>Tag		coiled-coil domain containing 19							310.0	281.0	291.0					1																	159856380		2203	4300	6503	SO:0001587	stop_gained	25790					mitochondrion|soluble fraction		g.chr1:159856380G>A																												ENST00000368099.4:c.688C>T	1.37:g.159856380G>A	ENSP00000357079:p.Gln230*					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.Q230*	p.Q145*			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		6	888	-	all_hematologic(112;0.0597)		230						Nonsense_Mutation	SNP	ENST00000368099.4	37	c.433C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	38	6.842086	0.97877	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	.	.	.	5.51	4.57	0.56435	.	0.368018	0.31519	N	0.007516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3392	13.8298	0.63373	0.0:0.1546:0.8454:0.0	.	.	.	.	X	230;145	.	.	Q	-	1	0	CCDC19	158123004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.719000	0.38011	1.273000	0.44346	0.563000	0.77884	CAG		0.483	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			105	1195	0	0	0	1	0	105	1195				
TRGV2	6974	broad.mit.edu	37	7	38402510	38402510	+	RNA	SNP	T	T	A	rs3999869		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:38402510T>A	ENST00000426402.2	-	0	498									T cell receptor gamma variable 2																		CATTTTCAATTAGATTTCGCA	0.463																																						ENST00000426402.2																			0																				95.0	88.0	90.0					7																	38402510		1894	4109	6003			0							g.chr7:38402510T>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402510T>A														0	498	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.463	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		6	281	0	0	0	1	0	6	281				
C5orf42	65250	broad.mit.edu	37	5	37125474	37125474	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:37125474C>G	ENST00000508244.1	-	45	8761	c.8668G>C	c.(8668-8670)Gac>Cac	p.D2890H	C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1788H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2890						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCAGTTCTTTGT	0.348																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5362-5364)Gac>Cac		chromosome 5 open reading frame 42							149.0	141.0	144.0					5																	37125474		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37125474C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8668G>C	5.37:g.37125474C>G	ENSP00000421690:p.Asp2890His					C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2890H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H	p.D1788H			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		46	8949	-	all_lung(31;0.000616)		2890					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5362G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633422	0.87660	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.97	5.97	0.96955	.	0.392756	0.27792	N	0.017821	T	0.43055	0.1230	L	0.29908	0.895	0.31060	N	0.714288	P;P	0.46220	0.547;0.874	B;B	0.44224	0.444;0.444	T	0.52859	-0.8519	10	0.66056	D	0.02	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	2890;1788	E9PH94;Q9H799	.;CE042_HUMAN	H	2890;2890;1788;1956	ENSP00000421690:D2890H;ENSP00000389014:D2890H;ENSP00000274258:D1788H;ENSP00000424223:D1956H	ENSP00000274258:D1788H	D	-	1	0	C5orf42	37161231	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.754000	0.55189	2.828000	0.97474	0.655000	0.94253	GAC		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		13	411	0	0	0	1	0	13	411				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		7	77	0	0	0	1	0	7	77				
PACRG	135138	broad.mit.edu	37	6	163510311	163510311	+	Nonsense_Mutation	SNP	C	C	T	rs369094995		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:163510311C>T	ENST00000337019.3	+	5	708	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	162					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R162*(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCTCCGAAACCGACAGGTCAT	0.453																																						ENST00000337019.3																			1	Substitution - Nonsense(1)	p.R162*(1)	endometrium(1)	endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(484-486)Cga>Tga		PARK2 co-regulated		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	141.0	123.0	129.0		484,484,484	3.8	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	162/258,162/258,162/297	163510311	1,13005	2203	4300	6503	SO:0001587	stop_gained	135138							g.chr6:163510311C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.484C>T	6.37:g.163510311C>T	ENSP00000337946:p.Arg162*					PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	708	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	162					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	37	c.484C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.811865|4.811865	0.90707|0.90707	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|.	.|.	.|.	5.63|5.63	3.76|3.76	0.43208|0.43208	.|.	.|0.126644	.|0.53938	.|D	.|0.000055	T|.	0.23688|.	0.0573|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08953|.	-1.0697|.	3|.	.|0.08381	.|T	.|0.77	-12.2326|-12.2326	14.4441|14.4441	0.67338|0.67338	0.2765:0.7235:0.0:0.0|0.2765:0.7235:0.0:0.0	.|.	.|.	.|.	.|.	L|X	77|162	.|.	.|ENSP00000337946:R162X	P|R	+|+	2|1	0|2	PACRG|PACRG	163430301|163430301	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.928000|0.928000	0.56348|0.56348	1.974000|1.974000	0.40559|0.40559	0.656000|0.656000	0.30886|0.30886	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		128	164	0	0	0	1	0	128	164				
CRISPLD1	83690	broad.mit.edu	37	8	75928804	75928804	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:75928804G>C	ENST00000262207.4	+	7	1200	c.732G>C	c.(730-732)ggG>ggC	p.G244G	CRISPLD1_ENST00000517786.1_Silent_p.G58G|CRISPLD1_ENST00000523524.1_Silent_p.G56G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(730-732)ggG>ggC		cysteine-rich secretory protein LCCL domain containing 1							103.0	108.0	106.0					8																	75928804		2203	4300	6503	SO:0001819	synonymous_variant	83690					extracellular region		g.chr8:75928804G>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.732G>C	8.37:g.75928804G>C						CRISPLD1_ENST00000517786.1_Silent_p.G58G|CRISPLD1_ENST00000523524.1_Silent_p.G56G	p.G244G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		7	1200	+	Breast(64;0.0799)		244					B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	c.732G>C	CCDS6219.1																																																																																				0.353	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		60	419	0	0	0	1	0	60	419				
ZNF737	100129842	broad.mit.edu	37	19	20728170	20728170	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:20728170G>C	ENST00000427401.4	-	4	933	c.839C>G	c.(838-840)aCt>aGt	p.T280S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	280					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCAGTATGAATTAT	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(838-840)aCt>aGt		zinc finger protein 737							35.0	35.0	35.0					19																	20728170		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728170G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.839C>G	19.37:g.20728170G>C	ENSP00000395733:p.Thr280Ser						p.T280S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	933	-			280					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.839C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.999	0.755032	0.15846	.	.	ENSG00000237440	ENST00000427401	T	0.24151	1.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.08492	0.0211	N	0.01257	-0.925	0.26687	N	0.97143	B	0.11235	0.004	B	0.20577	0.03	T	0.29852	-0.9998	9	0.56958	D	0.05	.	6.1513	0.20313	0.0:0.3233:0.6767:0.0	.	280	C9JHM3	.	S	280	ENSP00000395733:T280S	ENSP00000395733:T280S	T	-	2	0	ZNF737	20520010	0.013000	0.17824	0.087000	0.20705	0.088000	0.18126	0.098000	0.15189	-1.262000	0.02459	-1.289000	0.01358	ACT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		6	296	0	0	0	1	0	6	296				
OSBPL6	114880	broad.mit.edu	37	2	179253838	179253838	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:179253838T>C	ENST00000190611.4	+	21	2635	c.2259T>C	c.(2257-2259)aaT>aaC	p.N753N	OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000359685.3_Silent_p.N717N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	753					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATCAGAAATACCAAAAGCA	0.348																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2257-2259)aaT>aaC		oxysterol binding protein-like 6							127.0	109.0	115.0					2																	179253838		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179253838T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2259T>C	2.37:g.179253838T>C						OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000359685.3_Silent_p.N717N	p.N753N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2635	+			753					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.2259T>C	CCDS2277.1																																																																																				0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		73	157	0	0	0	1	0	73	157				
GNA15	2769	broad.mit.edu	37	19	3162865	3162865	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:3162865G>A	ENST00000262958.3	+	7	1231	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	325					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGGGTGCGTGGACGGCCCCGA	0.597											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(973-975)Gac>Aac		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							102.0	78.0	86.0					19																	3162865		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3162865G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.973G>A	19.37:g.3162865G>A	ENSP00000262958:p.Asp325Asn		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.D325N	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	7	1231	+		Hepatocellular(1079;0.137)	325					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.973G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	9.418	1.082262	0.20309	.	.	ENSG00000060558	ENST00000262958	D	0.88509	-2.39	3.67	2.6	0.31112	.	0.720175	0.11882	N	0.520430	T	0.80919	0.4716	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.33568	0.166	T	0.71797	-0.4484	10	0.59425	D	0.04	.	10.6388	0.45582	0.0:0.1971:0.8029:0.0	.	325	P30679	GNA15_HUMAN	N	325	ENSP00000262958:D325N	ENSP00000262958:D325N	D	+	1	0	GNA15	3113865	0.109000	0.22037	0.004000	0.12327	0.002000	0.02628	3.225000	0.51246	0.722000	0.32252	0.561000	0.74099	GAC		0.597	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		76	157	0	0	0	1	0	76	157				
EP300	2033	broad.mit.edu	37	22	41573306	41573306	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:41573306C>G	ENST00000263253.7	+	31	6810	c.5591C>G	c.(5590-5592)aCc>aGc	p.T1864S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1864					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACAGCCAACCACCCCGCAG	0.642			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5590-5592)aCc>aGc		E1A binding protein p300							95.0	93.0	94.0					22																	41573306		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573306C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5591C>G	22.37:g.41573306C>G	ENSP00000263253:p.Thr1864Ser					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.T1864S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6810	+			1864					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5591C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	4.675	0.125490	0.08931	.	.	ENSG00000100393	ENST00000263253	D	0.82081	-1.57	5.47	4.42	0.53409	.	0.509983	0.15738	N	0.247047	T	0.64283	0.2584	N	0.04508	-0.205	0.27890	N	0.939351	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.05721	T	0.95	-0.4911	16.0157	0.80439	0.0:0.8652:0.1348:0.0	.	1864	Q09472	EP300_HUMAN	S	1864	ENSP00000263253:T1864S	ENSP00000263253:T1864S	T	+	2	0	EP300	39903252	0.042000	0.20092	0.813000	0.32504	0.206000	0.24218	3.270000	0.51600	1.251000	0.43983	0.561000	0.74099	ACC		0.642	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		74	215	0	0	0	1	0	74	215				
NFASC	23114	broad.mit.edu	37	1	204923462	204923462	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:204923462G>A	ENST00000401399.1	+	5	561	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367172.4_Missense_Mutation_p.R121H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H			O94856	NFASC_HUMAN	neurofascin	121	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCTTCGCCCGCAACAAATTT	0.607																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(361-363)cGc>cAc		neurofascin							46.0	50.0	49.0					1																	204923462		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204923462G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.362G>A	1.37:g.204923462G>A	ENSP00000385637:p.Arg121His					NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000401399.1_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H	p.R121H			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		6	690	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		121			Ig-like C2-type 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.362G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351348|3.351348	0.61183|0.61183	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.53938	.|D	.|0.000050	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.72624|0.72624	2.21|2.21	0.40172|0.40172	D|D	0.977199|0.977199	.|P;P;B;P;P;D	.|0.54601	.|0.711;0.64;0.206;0.838;0.752;0.967	.|B;B;B;B;B;P	.|0.50270	.|0.1;0.083;0.162;0.144;0.083;0.636	T|T	0.77197|0.77197	-0.2676|-0.2676	5|10	.|0.46703	.|T	.|0.11	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;115;217;121;115;121	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	T|H	91|121;121;121;121;121;121;115;115;115;121;121;121;115;121;121;115;115;91	.|ENSP00000356140:R121H;ENSP00000356139:R121H;ENSP00000356138:R121H;ENSP00000342128:R121H;ENSP00000344786:R121H;ENSP00000343509:R121H;ENSP00000438614:R115H;ENSP00000353154:R115H;ENSP00000356137:R121H;ENSP00000412161:R121H;ENSP00000384875:R121H;ENSP00000385676:R115H;ENSP00000385637:R121H;ENSP00000427586:R121H;ENSP00000384061:R115H;ENSP00000425908:R115H;ENSP00000415031:R91H	.|ENSP00000295776:R115H	A|R	+|+	1|2	0|0	NFASC|NFASC	203190085|203190085	0.782000|0.782000	0.28689|0.28689	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.659000|2.659000	0.46741|0.46741	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		5	160	0	0	0	1	0	5	160				
HECTD4	283450	broad.mit.edu	37	12	112632807	112632807	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:112632807G>A	ENST00000430131.2	-	55	8510	c.7365C>T	c.(7363-7365)atC>atT	p.I2455I	HECTD4_ENST00000377560.5_Silent_p.I2705I|HECTD4_ENST00000550722.1_Silent_p.I2731I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2455					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCGGGGCGAAGATATTGAGCA	0.597																																						ENST00000550722.1																			0											c.(8191-8193)atC>atT		HECT domain containing E3 ubiquitin protein ligase 4							54.0	59.0	57.0					12																	112632807		2130	4253	6383	SO:0001819	synonymous_variant	283450							g.chr12:112632807G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7365C>T	12.37:g.112632807G>A						HECTD4_ENST00000430131.2_Silent_p.I2455I|HECTD4_ENST00000377560.5_Silent_p.I2705I	p.I2731I	NM_001109662.3	NP_001103132.3					56	8588	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.8193C>T																																																																																					0.597	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		20	61	0	0	0	1	0	20	61				
RCAN3	11123	broad.mit.edu	37	1	24859625	24859625	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:24859625C>G	ENST00000374395.4	+	4	735	c.422C>G	c.(421-423)cCt>cGt	p.P141R	RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	141					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CCGCCCCAGCCTGTCAAGCAG	0.567																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(421-423)cCt>cGt		RCAN family member 3							69.0	63.0	65.0					1																	24859625		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24859625C>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.422C>G	1.37:g.24859625C>G	ENSP00000363516:p.Pro141Arg					RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000374393.2_Intron	p.P141R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	4	735	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	141					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.422C>G	CCDS254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242107	0.79912	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.50548	0.76;0.75;0.74	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80487	-0.1361	10	0.72032	D	0.01	-28.9874	19.094	0.93242	0.0:1.0:0.0:0.0	.	83;131;141	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	R	141;131;83	ENSP00000363516:P141R;ENSP00000414447:P131R;ENSP00000445401:P83R	ENSP00000363516:P141R	P	+	2	0	RCAN3	24732212	1.000000	0.71417	0.967000	0.41034	0.498000	0.33706	7.278000	0.78587	2.822000	0.97130	0.558000	0.71614	CCT		0.567	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			88	63	0	0	0	1	0	88	63				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	137	0	0	0	1	0	34	137				
KLHL12	59349	broad.mit.edu	37	1	202864825	202864825	+	Silent	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:202864825A>T	ENST00000367261.3	-	8	1178	c.960T>A	c.(958-960)cgT>cgA	p.R320R	KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	320					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCCACATAACGTCTCTTAC	0.483																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(958-960)cgT>cgA		kelch-like family member 12							114.0	94.0	101.0					1																	202864825		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202864825A>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.960T>A	1.37:g.202864825A>T						KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	p.R320R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		8	1178	-			320					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.960T>A	CCDS1429.1																																																																																				0.483	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		5	225	0	0	0	1	0	5	225				
SYNDIG1	79953	broad.mit.edu	37	20	24646110	24646110	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24646110C>T	ENST00000376862.3	+	4	1380	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	249					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGCCCTCATCGCCTACCTCT	0.647																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(745-747)atC>atT		synapse differentiation inducing 1							101.0	100.0	100.0					20																	24646110		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24646110C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.747C>T	20.37:g.24646110C>T							p.I249I	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			4	1380	+			249					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.747C>T	CCDS13164.1																																																																																				0.647	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		210	321	0	0	0	1	0	210	321				
PHF3	23469	broad.mit.edu	37	6	64413463	64413463	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413463G>A	ENST00000262043.3	+	11	3609	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E			Q92576	PHF3_HUMAN	PHD finger protein 3	1090					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCCAGAAGGATCTGAAAAA	0.368																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3268-3270)gGa>gAa		PHD finger protein 3							91.0	93.0	92.0					6																	64413463		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64413463G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3269G>A	6.37:g.64413463G>A	ENSP00000262043:p.Gly1090Glu					PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E	p.G1090E			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1090					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3269G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681306	0.29872	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.41758	2.35;0.99;2.37;2.37	5.54	1.03	0.20045	.	0.238263	0.21734	N	0.069931	T	0.02727	0.0082	N	0.02539	-0.55	0.25439	N	0.988114	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.02654	T	1	-7.4536	0.8723	0.01217	0.2381:0.1955:0.3717:0.1947	.	1090	Q92576	PHF3_HUMAN	E	904;359;1090;1090	ENSP00000424694:G904E;ENSP00000425338:G359E;ENSP00000262043:G1090E;ENSP00000377048:G1090E	ENSP00000262043:G1090E	G	+	2	0	PHF3	64471422	0.998000	0.40836	0.995000	0.50966	0.968000	0.65278	2.108000	0.41854	0.222000	0.20900	0.591000	0.81541	GGA		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	260	0	0	0	1	0	32	260				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	156	0	0	0	1	0	4	156				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		10	190	0	0	0	1	0	10	190				
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1				BMS1 pseudogene 20																		AGCTGAATCATGCAGAATTTG	0.408																																						ENST00000426066.1																			0																																																			0							g.chr22:22661206T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661206T>C								NR_027293.1						0	298	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	197	0	0	0	1	0	5	197				
RP1	6101	broad.mit.edu	37	8	55533850	55533850	+	Silent	SNP	C	C	T	rs141074157	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:55533850C>T	ENST00000220676.1	+	2	472	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	108	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGTTCCCACGGCAGGAAGG	0.682													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12906	0.0		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(322-324)caC>caT		retinitis pigmentosa 1 (autosomal dominant)		C		2,4404	4.2+/-10.8	0,2,2201	51.0	51.0	51.0		324	1.1	0.1	8	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	RP1	NM_006269.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		108/2157	55533850	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533850C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.324C>T	8.37:g.55533850C>T							p.H108H	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	472	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	108			Doublecortin 1.			Silent	SNP	ENST00000220676.1	37	c.324C>T	CCDS6160.1																																																																																				0.682	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		141	268	0	0	0	1	0	141	268				
KCNC2	3747	broad.mit.edu	37	12	75601178	75601178	+	Missense_Mutation	SNP	C	C	T	rs201721348		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:75601178C>T	ENST00000549446.1	-	2	1266	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	196					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCGAGCCCCGCCGCGTCCTCG	0.716																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(586-588)Gcg>Acg		potassium voltage-gated channel, Shaw-related subfamily, member 2							9.0	9.0	9.0					12																	75601178		2158	4207	6365	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601178C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.586G>A	12.37:g.75601178C>T	ENSP00000449253:p.Ala196Thr					KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T	p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	1266	-			196					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.586G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621045	0.28889	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97328	-4.33;-4.33;-4.32;-4.33;-4.33;-4.32;-4.32;-4.34	4.44	2.54	0.30619	.	.	.	.	.	D	0.92264	0.7546	N	0.08118	0	0.39638	D	0.970289	B;P;B;P;B	0.40332	0.403;0.551;0.411;0.713;0.051	B;B;B;P;B	0.46299	0.04;0.356;0.08;0.511;0.062	D	0.87929	0.2709	9	0.21540	T	0.41	.	9.6841	0.40087	0.1599:0.6863:0.1538:0.0	.	196;196;196;196;196	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	T	196	ENSP00000448301:A196T;ENSP00000449941:A196T;ENSP00000449253:A196T;ENSP00000340121:A196T;ENSP00000298972:A196T;ENSP00000319877:A196T;ENSP00000438423:A196T;ENSP00000376966:A196T	ENSP00000298972:A196T	A	-	1	0	KCNC2	73887445	0.222000	0.23652	0.681000	0.30009	0.804000	0.45430	1.796000	0.38794	0.557000	0.29117	-0.165000	0.13383	GCG		0.716	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		13	33	0	0	0	1	0	13	33				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	637	0	0	0	1	0	7	637				
CABS1	85438	broad.mit.edu	37	4	71200877	71200877	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:71200877A>G	ENST00000273936.5	+	1	195	c.121A>G	c.(121-123)Att>Gtt	p.I41V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	41					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.I41V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAAACAACTATTACTTCAGA	0.368																																						ENST00000273936.4																			1	Substitution - Missense(1)	p.I41V(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(121-123)Att>Gtt		calcium-binding protein, spermatid-specific 1							97.0	100.0	99.0					4																	71200877		2203	4299	6502	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71200877A>G	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.121A>G	4.37:g.71200877A>G	ENSP00000273936:p.Ile41Val						p.I41V	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	180	+			41					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.121A>G	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316266	0.60524	.	.	ENSG00000145309	ENST00000273936	T	0.32023	1.47	4.79	4.79	0.61399	.	0.000000	0.40144	N	0.001162	T	0.33702	0.0872	L	0.34521	1.04	0.28651	N	0.90667	P	0.50943	0.94	P	0.53450	0.726	T	0.11012	-1.0605	10	0.40728	T	0.16	-26.118	10.8986	0.47038	1.0:0.0:0.0:0.0	.	41	Q96KC9	CABS1_HUMAN	V	41	ENSP00000273936:I41V	ENSP00000273936:I41V	I	+	1	0	CABS1	71235466	0.997000	0.39634	0.984000	0.44739	0.825000	0.46686	3.771000	0.55318	2.142000	0.66516	0.528000	0.53228	ATT		0.368	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		12	528	0	0	0	1	0	12	528				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		12	14	1	0	2.35188e-11	1	2.4069e-11	12	14				
ABCC2	1244	broad.mit.edu	37	10	101563916	101563916	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101563916A>G	ENST00000370449.4	+	10	1463	c.1350A>G	c.(1348-1350)ttA>ttG	p.L450L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	450	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATTGTCTTATCTATCTTCT	0.463																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1348-1350)ttA>ttG		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						233.0	193.0	206.0					10																	101563916		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101563916A>G	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1350A>G	10.37:g.101563916A>G							p.L450L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	10	1463	+		Colorectal(252;0.234)	450			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.1350A>G	CCDS7484.1																																																																																				0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		50	242	0	0	0	1	0	50	242				
HMCN1	83872	broad.mit.edu	37	1	186017951	186017951	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186017951A>T	ENST00000271588.4	+	42	6786	c.6557A>T	c.(6556-6558)aAc>aTc	p.N2186I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2186	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGAAAAAAACTACAATGTC	0.358																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6556-6558)aAc>aTc		hemicentin 1							94.0	96.0	95.0					1																	186017951		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017951A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6557A>T	1.37:g.186017951A>T	ENSP00000271588:p.Asn2186Ile					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			42	6786	+			2186			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6557A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600104	0.87055	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041576	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25890	0.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.70795	-0.4775	10	0.33141	T	0.24	.	15.4776	0.75497	1.0:0.0:0.0:0.0	.	2186	Q96RW7	HMCN1_HUMAN	I	2186	ENSP00000271588:N2186I;ENSP00000356462:N2186I	ENSP00000271588:N2186I	N	+	2	0	HMCN1	184284574	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.910000	0.92685	2.106000	0.64143	0.455000	0.32223	AAC		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	404	0	0	0	1	0	34	404				
RAB11FIP1	80223	broad.mit.edu	37	8	37728914	37728914	+	Missense_Mutation	SNP	C	C	A	rs201773104		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:37728914C>A	ENST00000330843.4	-	4	3418	c.3406G>T	c.(3406-3408)Gct>Tct	p.A1136S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1136					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.A1136T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTCTACCAGCGGAGCCCTCT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			1	Substitution - Missense(1)	p.A1136T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3406-3408)Gct>Tct		RAB11 family interacting protein 1 (class I)							109.0	118.0	115.0					8																	37728914		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728914C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3406G>T	8.37:g.37728914C>A	ENSP00000331342:p.Ala1136Ser		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.A1136S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3418	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1136					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3406G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911299	0.33721	.	.	ENSG00000156675	ENST00000330843	T	0.44881	0.91	5.29	0.0514	0.14297	.	0.867765	0.09895	N	0.741866	T	0.16938	0.0407	N	0.19112	0.55	0.20926	N	0.999823	P;B	0.43826	0.818;0.239	B;B	0.36378	0.223;0.054	T	0.08576	-1.0715	10	0.07030	T	0.85	-1.0042	1.2767	0.02032	0.2411:0.4183:0.1345:0.2061	.	465;1136	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1136	ENSP00000331342:A1136S	ENSP00000331342:A1136S	A	-	1	0	RAB11FIP1	37848072	0.003000	0.15002	0.106000	0.21319	0.878000	0.50629	0.172000	0.16704	-0.054000	0.13266	0.555000	0.69702	GCT		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		153	428	1	0	2.23979e-65	1	2.46517e-65	153	428				
KRTAP11-1	337880	broad.mit.edu	37	21	32253686	32253686	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:32253686A>G	ENST00000332378.4	-	1	188	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAGTGGTCCAGGAGCCAAGA	0.567																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(157-159)cTg>cCg		keratin associated protein 11-1							69.0	65.0	66.0					21																	32253686		2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253686A>G	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.158T>C	21.37:g.32253686A>G	ENSP00000330720:p.Leu53Pro						p.L53P	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	188	-			53					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.158T>C	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095059	0.56075	.	.	ENSG00000182591	ENST00000332378	T	0.03689	3.84	5.4	5.4	0.78164	.	0.167269	0.38272	N	0.001753	T	0.15305	0.0369	M	0.84948	2.725	0.58432	D	0.999998	D	0.61080	0.989	D	0.63113	0.911	T	0.00817	-1.1554	10	0.35671	T	0.21	-7.1524	8.316	0.32100	0.9117:0.0:0.0883:0.0	.	53	Q8IUC1	KR111_HUMAN	P	53	ENSP00000330720:L53P	ENSP00000330720:L53P	L	-	2	0	KRTAP11-1	31175557	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.106000	0.57804	2.197000	0.70478	0.529000	0.55759	CTG		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			48	182	0	0	0	1	0	48	182				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		48	170	1	0	1.04682e-39	1	1.13785e-39	48	170				
RNF169	254225	broad.mit.edu	37	11	74521280	74521280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:74521280A>T	ENST00000299563.4	+	3	641	c.628A>T	c.(628-630)Aag>Tag	p.K210*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	210					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TCAAATCCACAAGCTGTTACC	0.348																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(628-630)Aag>Tag		ring finger protein 169							108.0	102.0	104.0					11																	74521280		1810	4072	5882	SO:0001587	stop_gained	254225						zinc ion binding	g.chr11:74521280A>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.628A>T	11.37:g.74521280A>T	ENSP00000299563:p.Lys210*						p.K210*	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			3	641	+			210					Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	c.628A>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909386	0.92107	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.89	5.89	0.94794	.	0.177649	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.116	12.7076	0.57070	1.0:0.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000299563:K210X	K	+	1	0	RNF169	74198928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.003000	0.63959	2.254000	0.74563	0.533000	0.62120	AAG		0.348	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		5	417	0	0	0	1	0	5	417				
UHRF1	29128	broad.mit.edu	37	19	4910731	4910731	+	RNA	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:4910731C>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTGTCTGGTCCTGGCCAGGGT	0.502																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4910731C>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910731C>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	566	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.502	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		17	26	1	0	1.37285e-15	1	1.43862e-15	17	26				
MYO9B	4650	broad.mit.edu	37	19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:17295729G>A	ENST00000594824.1	+	17	2576	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R810H			Q13459	MYO9B_HUMAN	myosin IXB	810	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582																																						ENST00000595618.1																			2	Substitution - Missense(2)	p.R810H(2)	endometrium(2)	breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(2428-2430)cGc>cAc		myosin IXB							127.0	140.0	135.0					19																	17295729		2138	4262	6400	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17295729G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2429G>A	19.37:g.17295729G>A	ENSP00000471367:p.Arg810His					MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000594824.1_Missense_Mutation_p.R810H	p.R810H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			17	2581	+			810			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.2429G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.871098	0.91587	.	.	ENSG00000099331	ENST00000397274	T	0.72835	-0.69	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000056	D	0.84220	0.5424	M	0.77313	2.365	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.964;0.964;1.0	D	0.84405	0.0562	10	0.42905	T	0.14	.	17.579	0.87960	0.0:0.0:1.0:0.0	.	810;810;816	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	810	ENSP00000380444:R810H	ENSP00000380444:R810H	R	+	2	0	MYO9B	17156729	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	9.674000	0.98633	2.395000	0.81488	0.561000	0.74099	CGC		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	423	0	0	0	1	0	5	423				
TAS2R4	50832	broad.mit.edu	37	7	141478409	141478409	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:141478409A>G	ENST00000247881.2	+	1	168	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	41					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAGCCATAGAATCTCCTCTTC	0.383																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(121-123)Atc>Gtc		taste receptor, type 2, member 4							165.0	162.0	163.0					7																	141478409		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478409A>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.121A>G	7.37:g.141478409A>G	ENSP00000247881:p.Ile41Val					SSBP1_ENST00000465582.1_Intron	p.I41V	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	168	+	Melanoma(164;0.0171)		41					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.121A>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810241	0.16537	.	.	ENSG00000127364	ENST00000247881	T	0.00873	5.59	5.57	2.23	0.28157	.	0.805187	0.11220	N	0.586826	T	0.01189	0.0039	L	0.49126	1.545	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.46992	-0.9151	10	0.30078	T	0.28	.	5.7936	0.18373	0.3662:0.4428:0.191:0.0	.	41	Q9NYW5	TA2R4_HUMAN	V	41	ENSP00000247881:I41V	ENSP00000247881:I41V	I	+	1	0	TAS2R4	141124878	0.000000	0.05858	0.136000	0.22124	0.939000	0.58152	-0.260000	0.08708	0.214000	0.20742	0.528000	0.53228	ATC		0.383	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			154	421	0	0	0	1	0	154	421				
CERS2	29956	broad.mit.edu	37	1	150940315	150940315	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:150940315C>T	ENST00000271688.6	-	5	835	c.449G>A	c.(448-450)gGc>gAc	p.G150D	RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.G141D|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.G150D|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	150	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GACGGCCATGCCGGCAATGAA	0.537																																						ENST00000271688.6																			0											c.(448-450)gGc>gAc		ceramide synthase 2							154.0	134.0	141.0					1																	150940315		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940315C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.449G>A	1.37:g.150940315C>T	ENSP00000271688:p.Gly150Asp					CERS2_ENST00000368954.5_Missense_Mutation_p.G150D|CERS2_ENST00000561294.1_Missense_Mutation_p.G141D|CERS2_ENST00000345896.4_5'UTR	p.G150D	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			5	835	-			150			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.449G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776104	0.90195	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.88818	-2.43;-2.43;-2.43;-2.43;1.3	4.89	4.89	0.63831	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96875	0.9642	10	0.87932	D	0	-20.9281	17.8497	0.88742	0.0:1.0:0.0:0.0	.	150	Q96G23	CERS2_HUMAN	D	150;150;170;150;150	ENSP00000357950:G150D;ENSP00000271688:G150D;ENSP00000357945:G170D;ENSP00000355020:G150D;ENSP00000393239:G150D	ENSP00000271688:G150D	G	-	2	0	CERS2	149206939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.240000	0.78192	2.536000	0.85505	0.655000	0.94253	GGC		0.537	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		6	545	0	0	0	1	0	6	545				
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(778-780)Cgg>Tgg		chromosome 1 open reading frame 110							84.0	82.0	82.0					1																	162824686		1883	4107	5990	SO:0001583	missense	339512							g.chr1:162824686G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	1.37:g.162824686G>A	ENSP00000356886:p.Arg260Trp					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron	p.R260W	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	898	-			260					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.778C>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		0.502	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		5	367	0	0	0	1	0	5	367				
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM024126	SMAD4	M	rs121912581	c.(1054-1056)Gga>Tga		SMAD family member 4							237.0	199.0	212.0					18																	48591891		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591891G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1054G>T	18.37:g.48591891G>T	ENSP00000341551:p.Gly352*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*	p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1592	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	352		G -> R (in JP/HHT and JPS).	MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1054G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		112	184	1	0	1.4093e-69	1	1.57088e-69	112	184				
F5	2153	broad.mit.edu	37	1	169510549	169510549	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:169510549G>A	ENST00000367797.3	-	13	3980	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	F5_ENST00000367796.3_Missense_Mutation_p.P1265L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1260	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3793-3795)cCa>cTa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						209.0	227.0	221.0					1																	169510549		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510549G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3779C>T	1.37:g.169510549G>A	ENSP00000356771:p.Pro1260Leu					F5_ENST00000367797.3_Missense_Mutation_p.P1260L	p.P1265L			P12259	FA5_HUMAN			13	3995	-	all_hematologic(923;0.208)		1260			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3794C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535336	0.45176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38722	1.12;1.12	4.76	1.72	0.24424	.	.	.	.	.	T	0.21590	0.0520	M	0.70595	2.14	0.22366	N	0.999165	B	0.14805	0.011	B	0.14023	0.01	T	0.06516	-1.0822	8	0.59425	D	0.04	-2.6912	7.0922	0.25289	0.0846:0.0:0.6134:0.302	.	1260	P12259	FA5_HUMAN	L	1260;1265	ENSP00000356771:P1260L;ENSP00000356770:P1265L	ENSP00000356770:P1265L	P	-	2	0	F5	167777173	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	1.214000	0.32419	0.143000	0.18926	0.650000	0.86243	CCA		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		416	1120	0	0	0	1	0	416	1120				
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2194-2196)Cgg>Agg		alpha-kinase 3							29.0	34.0	32.0					15																	85384098		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384098C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2194C>A	15.37:g.85384098C>A							p.R732R	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2361	+			732					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2194C>A	CCDS10333.1																																																																																				0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		57	110	1	0	5.22555e-25	1	5.61026e-25	57	110				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	231	0	0	0	1	0	4	231				
NKAPL	222698	broad.mit.edu	37	6	28227596	28227596	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:28227596C>T	ENST00000343684.3	+	1	499	c.447C>T	c.(445-447)gaC>gaT	p.D149D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	149										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TAGATTCTGACGAACATACCC	0.512																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(445-447)gaC>gaT		NFKB activating protein-like							96.0	104.0	101.0					6																	28227596		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227596C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.447C>T	6.37:g.28227596C>T							p.D149D	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	499	+			149					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.447C>T	CCDS34353.1																																																																																				0.512	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			181	487	0	0	0	1	0	181	487				
PRX	57716	broad.mit.edu	37	19	40901569	40901569	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:40901569C>T	ENST00000324001.7	-	7	2960	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	897					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGGCACTCGGAAGCCCAC	0.612																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2689-2691)cGa>cAa		periaxin							47.0	56.0	53.0					19																	40901569		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901569C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2690G>A	19.37:g.40901569C>T	ENSP00000326018:p.Arg897Gln					PRX_ENST00000291825.7_3'UTR	p.R897Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2960	-			897					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2690G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931525	0.34096	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	5.3	4.21	0.49690	.	0.354983	0.20353	N	0.094003	T	0.00724	0.0024	N	0.17082	0.46	0.37414	D	0.913344	B	0.33494	0.414	B	0.21360	0.034	T	0.64554	-0.6380	10	0.29301	T	0.29	-8.6739	4.1775	0.10358	0.0:0.6832:0.0:0.3168	.	897	Q9BXM0	PRAX_HUMAN	Q	897	ENSP00000326018:R897Q	ENSP00000326018:R897Q	R	-	2	0	PRX	45593409	0.000000	0.05858	0.928000	0.36995	0.979000	0.70002	0.904000	0.28491	2.496000	0.84212	0.650000	0.86243	CGA		0.612	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		98	295	0	0	0	1	0	98	295				
LCMT2	9836	broad.mit.edu	37	15	43621570	43621570	+	Missense_Mutation	SNP	G	G	C	rs371016069		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:43621570G>C	ENST00000305641.5	-	1	1233	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	373					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAATCCTCCTGCACTGAGAAT	0.547																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1117-1119)gCa>gGa		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						54.0	53.0	53.0					15																	43621570		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621570G>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1118C>G	15.37:g.43621570G>C	ENSP00000307214:p.Ala373Gly					LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR	p.A373G	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1233	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	373					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.1118C>G	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998347	0.35226	.	.	ENSG00000168806	ENST00000305641	T	0.74526	-0.85	5.54	4.62	0.57501	.	0.176134	0.48767	D	0.000180	T	0.64821	0.2633	L	0.47716	1.5	0.31690	N	0.642009	B	0.28128	0.201	B	0.27608	0.081	T	0.65001	-0.6274	10	0.23302	T	0.38	-14.2982	10.1028	0.42515	0.0895:0.0:0.9105:0.0	.	373	O60294	LCMT2_HUMAN	G	373	ENSP00000307214:A373G	ENSP00000307214:A373G	A	-	2	0	LCMT2	41408862	0.163000	0.22920	0.377000	0.26055	0.889000	0.51656	2.230000	0.42999	1.573000	0.49748	0.655000	0.94253	GCA		0.547	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		67	141	0	0	0	1	0	67	141				
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		6	511	0	0	0	1	0	6	511				
NOL7	51406	broad.mit.edu	37	6	13620462	13620462	+	Missense_Mutation	SNP	G	G	A	rs143778341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:13620462G>A	ENST00000451315.2	+	6	555	c.523G>A	c.(523-525)Gta>Ata	p.V175I	AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M|RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	175						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTACTTGGCCGTAAGGCTAAA	0.383																																						ENST00000451315.2																			0				breast(1)|large_intestine(3)|lung(1)	5						c.(523-525)Gta>Ata		nucleolar protein 7, 27kDa		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		523	-11.6	0.0	6	dbSNP_134	95	0,8600		0,0,4300	no	missense	NOL7	NM_016167.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	175/258	13620462	1,13005	2203	4300	6503	SO:0001583	missense	51406					mitochondrion|nucleolus		g.chr6:13620462G>A	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.523G>A	6.37:g.13620462G>A	ENSP00000405674:p.Val175Ile					NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	p.V175I	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)		6	555	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	175					Q5T297|Q9Y3U7	Missense_Mutation	SNP	ENST00000451315.2	37	c.523G>A	CCDS4528.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249688	0.22880	2.27E-4	0.0	ENSG00000225921	ENST00000451315	.	.	.	5.8	-11.6	0.00059	.	1.503030	0.04455	N	0.373256	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	B	0.32128	0.357	B	0.24394	0.053	T	0.20107	-1.0285	9	0.52906	T	0.07	-6.5213	23.1364	0.99980	0.0:0.6737:0.2507:0.0756	.	175	Q9UMY1	NOL7_HUMAN	I	175	.	ENSP00000405674:V175I	V	+	1	0	NOL7	13728441	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-1.036000	0.03560	-1.984000	0.00985	-0.211000	0.12701	GTA		0.383	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167		5	309	0	0	0	1	0	5	309				
CSTF2T	23283	broad.mit.edu	37	10	53458724	53458724	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:53458724G>T	ENST00000331173.4	-	1	631	c.586C>A	c.(586-588)Cat>Aat	p.H196N	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	196					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTGTGACATGTATCTTCCGA	0.512																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(586-588)Cat>Aat		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							142.0	122.0	129.0					10																	53458724		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458724G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.586C>A	10.37:g.53458724G>T	ENSP00000332444:p.His196Asn					PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	p.H196N	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	631	-			196					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.586C>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	0.601	-0.829212	0.02734	.	.	ENSG00000177613	ENST00000331173	T	0.19669	2.13	5.1	4.13	0.48395	.	0.669626	0.15530	N	0.257547	T	0.05410	0.0143	N	0.00583	-1.355	0.25045	N	0.991177	B	0.09022	0.002	B	0.01281	0.0	T	0.29397	-1.0013	10	0.09590	T	0.72	-4.1716	10.3859	0.44140	0.0:0.0:0.8051:0.1949	.	196	Q9H0L4	CSTFT_HUMAN	N	196	ENSP00000332444:H196N	ENSP00000332444:H196N	H	-	1	0	CSTF2T	53128730	0.160000	0.22878	0.948000	0.38648	0.987000	0.75469	1.930000	0.40124	2.824000	0.97209	0.655000	0.94253	CAT		0.512	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		94	195	1	0	1.55521e-42	1	1.70101e-42	94	195				
LILRP2	79166	broad.mit.edu	37	19	55220640	55220640	+	RNA	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:55220640C>T	ENST00000413439.1	+	0	778				AC098784.2_ENST00000583865.1_RNA					leukocyte immunoglobulin-like receptor pseudogene 2																		CTGGTCAGAGCGCAGCGAGCC	0.607																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55220640C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55220640C>T														0	778	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.607	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		30	87	0	0	0	1	0	30	87				
MED1	5469	broad.mit.edu	37	17	37564572	37564572	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:37564572G>A	ENST00000300651.6	-	17	4125	c.3902C>T	c.(3901-3903)cCg>cTg	p.P1301L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTCAAGGACGGCTTCTTGTT	0.522										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3901-3903)cCg>cTg		mediator complex subunit 1							62.0	69.0	67.0					17																	37564572		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564572G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3902C>T	17.37:g.37564572G>A	ENSP00000300651:p.Pro1301Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.P1301L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4125	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1301			Interaction with TP53.|Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3902C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808847	0.70797	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	5.07	5.07	0.68467	.	.	.	.	.	T	0.62146	0.2404	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66618	-0.5878	9	0.87932	D	0	-5.6283	19.0071	0.92856	0.0:0.0:1.0:0.0	.	1301	Q15648	MED1_HUMAN	L	1301	ENSP00000300651:P1301L	ENSP00000300651:P1301L	P	-	2	0	MED1	34818098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.290000	0.96065	2.793000	0.96121	0.563000	0.77884	CCG		0.522	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		101	236	0	0	0	1	0	101	236				
STAG3L4	64940	broad.mit.edu	37	7	66785098	66785098	+	RNA	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:66785098A>C	ENST00000416602.2	+	0	728					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTGCATTAATACTACATTG	0.368																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															80.0	70.0	73.0					7																	66785098		1838	4080	5918			0							g.chr7:66785098A>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66785098A>C								NR_040586.1		Q8TBR4	STG34_HUMAN			0	728	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	a	4.956	0.177539	0.09443	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	2.19	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3172	0.21196	1.0:0.0:0.0:0.0	.	.	.	.	Y	151	.	.	X	+	3	2	STAG3L4	66422533	1.000000	0.71417	0.992000	0.48379	0.373000	0.29922	1.725000	0.38074	1.031000	0.39867	0.076000	0.15429	TAA		0.368	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		40	234	0	0	0	1	0	40	234				
ALPP	250	broad.mit.edu	37	2	233244230	233244230	+	Missense_Mutation	SNP	A	A	G	rs1130341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244230A>G	ENST00000392027.2	+	4	586	c.317A>G	c.(316-318)aAt>aGt	p.N106S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	106					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGACATACAATGTAGACAAA	0.577																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(316-318)aAt>aGt		alkaline phosphatase, placental		A	SER/ASN	1,4405		0,1,2202	56.0	51.0	52.0		317	-0.4	1.0	2	dbSNP_86	52	0,8600		0,0,4300	no	missense	ALPP	NM_001632.3	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	106/536	233244230	1,13005	2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244230A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.317A>G	2.37:g.233244230A>G	ENSP00000375881:p.Asn106Ser						p.N106S	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	586	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	106					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.317A>G	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	2.668	-0.278125	0.05679	2.27E-4	0.0	ENSG00000163283	ENST00000392027	D	0.95103	-3.61	2.31	-0.39	0.12450	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.295720	0.40818	N	0.001001	D	0.83487	0.5265	N	0.12831	0.26	0.29049	N	0.884612	B	0.30889	0.299	B	0.25405	0.06	T	0.75230	-0.3391	10	0.30854	T	0.27	.	6.227	0.20714	0.7126:0.1707:0.1167:0.0	rs1130341;rs3189051;rs17412756	106	P05187	PPB1_HUMAN	S	106	ENSP00000375881:N106S	ENSP00000375881:N106S	N	+	2	0	ALPP	232952474	0.992000	0.36948	0.984000	0.44739	0.510000	0.34073	0.843000	0.27640	-0.220000	0.09988	-0.817000	0.03123	AAT		0.577	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		7	115	0	0	0	1	0	7	115				
EDN3	1908	broad.mit.edu	37	20	57899466	57899466	+	Silent	SNP	C	C	T	rs370508486		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57899466C>T	ENST00000337938.2	+	5	1055	c.669C>T	c.(667-669)ctC>ctT	p.L223L	EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	223					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACTCGCCCTCGCTCCATCTA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15503	0.0		0.001	False		,,,				2504	0.0					ENST00000337938.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(667-669)ctC>ctT		endothelin 3		C	,,,	0,4406		0,0,2203	96.0	97.0	97.0		669,,627,669	-0.7	0.0	20		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	223/239,,209/225,223/239	57899466	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57899466C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.669C>T	20.37:g.57899466C>T						EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000311585.7_3'UTR	p.L223L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN			5	1055	+	all_lung(29;0.0115)		223					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	c.669C>T	CCDS13477.1																																																																																				0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		8	692	0	0	0	1	0	8	692				
DSCAM	1826	broad.mit.edu	37	21	41741051	41741051	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:41741051G>T	ENST00000400454.1	-	4	1107	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	210	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCGCTGTTGCTCTGCCTCG	0.438																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(628-630)agC>agA		Down syndrome cell adhesion molecule							93.0	94.0	94.0					21																	41741051		1949	4142	6091	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741051G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.630C>A	21.37:g.41741051G>T	ENSP00000383303:p.Ser210Arg						p.S210R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1107	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	210			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.630C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137474	0.77775	.	.	ENSG00000171587	ENST00000400454	T	0.19394	2.15	6.07	-3.03	0.05429	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.83603	2.65	0.41002	D	0.98493	D	0.76494	0.999	D	0.83275	0.996	T	0.39542	-0.9609	10	0.66056	D	0.02	.	12.8167	0.57669	0.6272:0.0:0.3728:0.0	.	210	O60469	DSCAM_HUMAN	R	210	ENSP00000383303:S210R	ENSP00000383303:S210R	S	-	3	2	DSCAM	40662921	1.000000	0.71417	0.853000	0.33588	0.951000	0.60555	0.640000	0.24705	-1.031000	0.03308	0.655000	0.94253	AGC		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	326	1	0	3.86212e-05	1	3.92948e-05	9	326				
SNX27	81609	broad.mit.edu	37	1	151634647	151634647	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:151634647C>T	ENST00000458013.2	+	5	927	c.807C>T	c.(805-807)taC>taT	p.Y269Y	SNX27_ENST00000368838.1_Silent_p.Y176Y|SNX27_ENST00000368843.3_Silent_p.Y269Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27	269	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGAACTACAATGGTGTGT	0.418																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(805-807)taC>taT		sorting nexin family member 27							93.0	79.0	84.0					1																	151634647		2203	4300	6503	SO:0001819	synonymous_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151634647C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.807C>T	1.37:g.151634647C>T						SNX27_ENST00000458013.2_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y	p.Y269Y	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	927	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		269			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37	c.807C>T																																																																																					0.418	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		47	175	0	0	0	1	0	47	175				
SMAD4	4089	broad.mit.edu	37	18	48591892	48591892	+	Missense_Mutation	SNP	G	G	T	rs377767345		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591892G>T	ENST00000342988.3	+	9	1593	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V|SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTGTTGATGGATACGTGGAC	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1054-1056)gGa>gTa		SMAD family member 4							237.0	199.0	212.0					18																	48591892		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591892G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1055G>T	18.37:g.48591892G>T	ENSP00000341551:p.Gly352Val					SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V	p.G352V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1593	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	352		G -> R (in JP/HHT and JPS).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1055G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624653	0.87560	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98329	-4.87;-4.87	5.86	4.99	0.66335	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.048668	0.85682	D	0.000000	D	0.99193	0.9720	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	.	13.6642	0.62384	0.075:0.0:0.925:0.0	.	352	Q13485	SMAD4_HUMAN	V	352	ENSP00000341551:G352V;ENSP00000381452:G352V	ENSP00000341551:G352V	G	+	2	0	SMAD4	46845890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.828000	0.86729	1.474000	0.48178	0.563000	0.77884	GGA		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		114	181	1	0	4.61678e-68	1	5.11353e-68	114	181				
ELMOD3	84173	broad.mit.edu	37	2	85617280	85617280	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:85617280A>C	ENST00000409890.2	+	13	1502	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	ELMOD3_ENST00000315658.7_Missense_Mutation_p.K279Q|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	279	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TCGGCAGCAGAAGGTCATCCC	0.567																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(835-837)Aag>Cag		ELMO/CED-12 domain containing 3							100.0	83.0	88.0					2																	85617280		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85617280A>C	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.835A>C	2.37:g.85617280A>C	ENSP00000386304:p.Lys279Gln					ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q	p.K279Q	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			11	1094	+			279			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.835A>C	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	A	7.253	0.603569	0.14002	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.98	2.38	0.29361	Engulfment/cell motility, ELMO (2);	0.194639	0.44483	D	0.000460	T	0.08758	0.0217	N	0.01081	-1.03	0.80722	D	1	B;B	0.23937	0.094;0.01	B;B	0.19946	0.027;0.006	T	0.16867	-1.0388	10	0.09084	T	0.74	-18.2695	10.0611	0.42275	0.51:0.49:0.0:0.0	.	279;279	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	Q	279	ENSP00000387139:K279Q;ENSP00000386304:K279Q;ENSP00000386248:K279Q;ENSP00000377434:K279Q;ENSP00000318264:K279Q	ENSP00000318264:K279Q	K	+	1	0	ELMOD3	85470791	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	2.853000	0.48317	0.730000	0.32425	0.460000	0.39030	AAG		0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		9	326	0	0	0	1	0	9	326				
ZSCAN32	54925	broad.mit.edu	37	16	3434742	3434742	+	Silent	SNP	G	G	A	rs112696062	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:3434742G>A	ENST00000396852.4	-	6	1258	c.951C>T	c.(949-951)taC>taT	p.Y317Y	ZSCAN32_ENST00000439568.2_Silent_p.Y28Y|ZSCAN32_ENST00000573830.1_Silent_p.Y28Y|ZSCAN32_ENST00000396846.3_Silent_p.Y317Y|ZSCAN32_ENST00000304926.3_Silent_p.Y105Y|ZSCAN32_ENST00000574940.1_Silent_p.Y317Y|ZSCAN32_ENST00000422427.2_Silent_p.Y105Y	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	317					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TCACTTTGCGGTAACTCAACT	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.0					ENST00000396852.4																			0											c.(949-951)taC>taT		zinc finger and SCAN domain containing 32		G		9,4385	15.5+/-35.6	0,9,2188	163.0	168.0	166.0		315	1.0	0.0	16	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	ZNF434	NM_017810.2		0,9,6488	AA,AG,GG		0.0,0.2048,0.0693		105/486	3434742	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	54925							g.chr16:3434742G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.951C>T	16.37:g.3434742G>A						ZSCAN32_ENST00000396846.3_Silent_p.Y317Y|ZSCAN32_ENST00000439568.2_Silent_p.Y28Y|ZSCAN32_ENST00000304926.3_Silent_p.Y105Y|ZSCAN32_ENST00000573830.1_Silent_p.Y28Y|ZSCAN32_ENST00000422427.2_Silent_p.Y105Y|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Silent_p.Y317Y	p.Y317Y							6	1258	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37	c.951C>T																																																																																					0.547	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		6	847	0	0	0	1	0	6	847				
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-	rs370696498|rs374564889		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_ENST00000374152.2_In_Frame_Del_p.Q951del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q1334del|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1334	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Substitution - Nonsense(1)|Deletion - In frame(1)	p.Q1327*(1)|p.Q1334delQ(1)	large_intestine(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3976-3981)ccg>cc		AT rich interactive domain 1A (SWI-like)																																				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100182_27100184delGCA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3978_3980delGCA	1.37:g.27100191_27100193delGCA	ENSP00000320485:p.Gln1334del					ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del	p.PQ1326del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4349_4351	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1326					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.3978_3980delGCA	CCDS285.1																																																																																				0.591	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	332						10	332	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|IQCC_ENST00000291358.6_5'Flank|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		8	800						8	800	---	---	---	---
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-	rs577226450		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.I84del	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	84					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TTGAAAATACTTATTATTATTAT	0.305																																						ENST00000371429.3																			0											c.(250-255)agt>a		NDC1 transmembrane nucleoporin			,	223,4033		40,143,1945					,	4.0	1.0			44	436,7808		95,246,3781	no	coding,coding	TMEM48	NM_018087.4,NM_001168551.1	,	135,389,5726	A1A1,A1R,RR		5.2887,5.2397,5.272	,	,		659,11841				SO:0001651	inframe_deletion	55706							g.chr1:54298190_54298192delTTA	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.251_253delTAA	1.37:g.54298199_54298201delTTA	ENSP00000360483:p.Ile84del					NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR	p.IS84del	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					3	849_851	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	In_Frame_Del	DEL	ENST00000371429.3	37	c.251_253delTAA	CCDS583.1																																																																																				0.305	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		7	164						7	164	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	59						8	59	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(142-147)del		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del					LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del	p.CG48del			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	398_403	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		8	638						8	638	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:154842199_154842200insGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGC	c.(241-243)cca>cAGCca	p.80_81insQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241dupAGC	1.37:g.154842206_154842208dupGCT	ENSP00000271915:p.Gln80_Gln80dup						p.80_81insS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	44						9	44	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1105-1107)del		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044057_161044059delCAC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		9	696						9	696	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		12	588						12	588	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233482283	233482283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:233482283delA	ENST00000366624.3	+	2	1162	c.901delA	c.(901-903)aaafs	p.K301fs	MLK4_ENST00000366623.3_Frame_Shift_Del_p.K301fs	NM_032435.2	NP_115811.2																					CAGGACCACCAAAATGAGCAC	0.453																																						ENST00000366624.3																			0											c.(901-903)aafs									101.0	95.0	97.0					1																	233482283		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:233482283delA																												ENST00000366624.3:c.901delA	1.37:g.233482283delA	ENSP00000355583:p.Lys301fs					MLK4_ENST00000366623.3_Frame_Shift_Del_p.K301fs	p.K301fs	NM_032435.2	NP_115811.2					2	1162	+									Frame_Shift_Del	DEL	ENST00000366624.3	37	c.901delA	CCDS1598.1																																																																																				0.453	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			89	345						89	345	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910768	2910769	+	lincRNA	INS	-	-	T	rs142585959		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698																																						ENST00000457478.1																			0																																																			0							g.chr2:2910768_2910769insT																													2.37:g.2910769_2910769dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.698	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	4						3	4	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	260						7	260	---	---	---	---
FASTKD1	79675	broad.mit.edu	37	2	170411659	170411660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:170411659_170411660insA	ENST00000453153.2	-	7	1534_1535	c.1188_1189insT	c.(1186-1191)tttgcgfs	p.A397fs	FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.A397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	397					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTAAGTTTCGCAAAAAACTCCT	0.302																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(1186-1191)ttcgaafs		FAST kinase domains 1																																				SO:0001589	frameshift_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170411659_170411660insA	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1189dupT	2.37:g.170411665_170411665dupA	ENSP00000400513:p.Ala397fs					FASTKD1_ENST00000453929.2_Frame_Shift_Ins_p.E397fs	p.E397fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			7	1534_1535	-			397					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Frame_Shift_Ins	INS	ENST00000453153.2	37	c.1188_1189insT	CCDS33318.1																																																																																				0.302	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		87	243						87	243	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)gcagcctcaggcgcggcggccgcggctdel	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	300	Poly-Ala.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(898-924)del		even-skipped homeobox 2																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	2.37:g.176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENSP00000312385:p.Ala300_Ala308del						p.AASGAAAAA300del	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1034_1060	-			300			Poly-Ala.			In_Frame_Del	DEL	ENST00000308618.4	37	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	CCDS33333.1																																																																																				0.731	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			13	35						13	35	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T	rs572063854		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1.0			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		7	250						7	250	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	347						9	347	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	904						7	904	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9262-9264)gfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs	p.W3088fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9669_9670	-		Hepatocellular(203;0.114)	3105					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9262_9263delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		7	384						7	384	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)ggcfs	p.G438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1312-1314)gcgfs		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149510155_149510156insC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1314dupG	5.37:g.149510157_149510157dupC	ENSP00000261799:p.Gly438fs		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.A438fs	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1782_1783	-		all_hematologic(541;0.224)	438			Ig-like C2-type 5.		B5A957|Q8N5L4	Frame_Shift_Ins	INS	ENST00000261799.4	37	c.1313_1314insG	CCDS4303.1																																																																																				0.614	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		14	679						14	679	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_In_Frame_Del_p.15_16LL>L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-48)cta>ct		hepatitis A virus cellular receptor 2																																				SO:0001651	inframe_deletion	84868					integral to membrane		g.chr5:156535948_156535950delAGC	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45_47delGCT	5.37:g.156535957_156535959delAGC	ENSP00000312002:p.Leu18del					HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	p.LL17del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775_777	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	17					B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	c.45_47delGCT	CCDS4333.1																																																																																				0.438	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			8	237						8	237	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		21	78						21	78	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394097	64394097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64394097delA	ENST00000262043.3	+	4	814	c.474delA	c.(472-474)acafs	p.T158fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs			Q92576	PHF3_HUMAN	PHD finger protein 3	158					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTAACACAAAAAAAGCAT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(472-474)acfs		PHD finger protein 3							158.0	168.0	165.0					6																	64394097		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394097delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.474delA	6.37:g.64394097delA	ENSP00000262043:p.Thr158fs					PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs	p.T158fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	814	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		158					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.474delA	CCDS4966.1																																																																																				0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	1108						7	1108	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	258						7	258	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-	rs150213018		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000578994.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(46-48)del		glycyl-tRNA synthetase	Glycine(DB00145)			181,3387		9,163,1612						-3.2	0.0		dbSNP_134	8	497,6929		13,471,3229	no	coding	GARS	NM_002047.2		22,634,4841	A1A1,A1R,RR		6.6927,5.0729,6.167				678,10316				SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634583_30634585delCTG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.46_48delCTG	7.37:g.30634592_30634594delCTG	ENSP00000373918:p.Leu20del						p.L20del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	287_289	+			20					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.46_48delCTG	CCDS43564.1																																																																																				0.749	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	73						8	73	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:65150817delC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCATCCCTCACCCCCCCCCCC	0.468																																						ENST00000430126.2																			0																																																			0							g.chr7:65150817delC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150817delC														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.468	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		8	41						8	41	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74507470	74507471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:74507470_74507471insT	ENST00000521451.1	-	6	807_808	c.431_432insA	c.(430-432)aatfs	p.N144fs	STAU2_ENST00000519961.1_Frame_Shift_Ins_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Ins_p.N344fs|STAU2_ENST00000355780.5_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Ins_p.N192fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.N364fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.N326fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000521210.1_Frame_Shift_Ins_p.N260fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327																																						ENST00000355780.5																			1	Deletion - Frameshift(1)	p.N332fs*67(1)	ovary(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(994-996)agcfs		staufen double-stranded RNA binding protein 2																																				SO:0001589	frameshift_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74507470_74507471insT	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.432dupA	8.37:g.74507478_74507478dupT	ENSP00000428476:p.Asn144fs					STAU2_ENST00000521210.1_Frame_Shift_Ins_p.S260fs|STAU2_ENST00000521451.1_Frame_Shift_Ins_p.S144fs|STAU2_ENST00000519961.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.S332fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.S364fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.S326fs|STAU2_ENST00000521727.1_Frame_Shift_Ins_p.S344fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.S332fs|STAU2_ENST00000523558.1_Frame_Shift_Ins_p.S192fs	p.S332fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		10	1213_1214	-	Breast(64;0.0138)		364			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Ins	INS	ENST00000521451.1	37	c.995_996insA																																																																																					0.327	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		7	349						7	349	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128748845	128748845	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:128748845delT	ENST00000377970.2	+	1	516	c.6delT	c.(4-6)gatfs	p.D2fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.D2fs|MYC_ENST00000259523.6_5'UTR|CASC11_ENST00000502463.3_lincRNA	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	0					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AGACGCTGGATTTTTTTCGGG	0.493		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(4-6)gafs		v-myc avian myelocytomatosis viral oncogene homolog							58.0	59.0	58.0					8																	128748845		2203	4300	6503	SO:0001589	frameshift_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128748845delT		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.6delT	8.37:g.128748845delT	ENSP00000367207:p.Asp2fs		OREG0018981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_5'UTR|MYC_ENST00000524013.1_Frame_Shift_Del_p.D2fs	p.D2fs	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	1	516	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	0					A8WFE7|P01107|Q14026	Frame_Shift_Del	DEL	ENST00000377970.2	37	c.6delT	CCDS6359.2																																																																																				0.493	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			8	2305						8	2305	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	265						7	265	---	---	---	---
ZNF705E	100131539	broad.mit.edu	37	11	71529621	71529622	+	RNA	INS	-	-	A	rs2363747		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:71529621_71529622insA	ENST00000525199.1	-	0	307							A8MWA4	Z705E_HUMAN	zinc finger protein 705E						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TAAAAGAAAAGAAAAAAAAAGA	0.356																																						ENST00000525199.1																			0																																																			0							g.chr11:71529621_71529622insA			11q13.4	2013-04-03			ENSG00000214534	ENSG00000214534			33203	other	unknown							Standard	NM_001278713		Approved			A8MWA4	OTTHUMG00000167482		11.37:g.71529630_71529630dupA														0	307	-									RNA	INS	ENST00000525199.1	37																																																																																						0.356	ZNF705E-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394768.1			3	6						3	6	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2461-2463)ggfs		kinesin family member 5A							98.0	97.0	97.0					12																	57972048		2203	4300	6503	SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972048delG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2461delG	12.37:g.57972048delG	ENSP00000408979:p.Gly822fs					KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	p.G822fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2735	+			822					A6H8M5|Q4LE26	Frame_Shift_Del	DEL	ENST00000455537.2	37	c.2461delG	CCDS8945.1																																																																																				0.502	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	797						7	797	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696015	95696016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr13:95696015_95696016insT	ENST00000376887.4	-	29	3769_3770	c.3655_3656insA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Ins_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTTCTCCCGGATTTTTTTTTGT	0.376																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)ccgfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)																																			SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696015_95696016insT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3656dupA	13.37:g.95696024_95696024dupT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Ins_p.P1172fs	p.P1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769_3770	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Ins	INS	ENST00000376887.4	37	c.3655_3656insA	CCDS9474.1																																																																																				0.376	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		8	500						8	500	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59793694	59793695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:59793694_59793695insA	ENST00000395125.1	+	11	1380_1381	c.1357_1358insA	c.(1357-1359)gaafs	p.E453fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E453fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E453fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	453					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAACAAGCGGAAAAAATGAGA	0.342																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1357-1359)aaafs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59793694_59793695insA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1363dupA	14.37:g.59793700_59793700dupA	ENSP00000378557:p.Glu453fs					DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.K453fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.K453fs	p.K453fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	11	1380_1381	+			453					Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.1357_1358insA	CCDS9737.1																																																																																				0.342	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		101	336						101	336	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		7	182						7	182	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T	rs370244500		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.460	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		12	637						12	637	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-	rs371146424		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(676-678)acfs		calponin 2			,	229,3873		14,201,1836	77.0	90.0	86.0		,	4.3	1.0	19		87	311,7625		16,279,3673	no	frameshift,frameshift	CNN2	NM_201277.1,NM_004368.2	,	30,480,5509	A1A1,A1R,RR		3.9189,5.5826,4.4858	,	,	1037646	540,11498	2119	4148	6267	SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037646delC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.677delC	19.37:g.1037646delC	ENSP00000263097:p.Thr226fs					CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR	p.T226fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	226					A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.677delC	CCDS12053.1																																																																																				0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		9	705						9	705	---	---	---	---
ELAVL3	1995	broad.mit.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs|CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs|RN7SL669P_ENST00000581926.1_RNA	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(46-48)gccfs		ELAV like neuron-specific RNA binding protein 3																																				SO:0001589	frameshift_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11577604_11577605insC		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs					CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.A170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.A16fs	p.A16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			2	471_472	-			16					Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	ENST00000359227.3	37	c.47_48insG	CCDS32912.1																																																																																				0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		7	87						7	87	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50385330	50385331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:50385330_50385331insC	ENST00000221543.5	+	6	859_860	c.560_561insC	c.(559-564)ttccccfs	p.FP187fs	TBC1D17_ENST00000535102.2_Frame_Shift_Ins_p.FP154fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	187					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TACCTTGTCTTCCCCCACGACT	0.629																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(559-561)tccfs		TBC1 domain family, member 17																																				SO:0001589	frameshift_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50385330_50385331insC	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.565dupC	19.37:g.50385335_50385335dupC	ENSP00000221543:p.Phe187fs					TBC1D17_ENST00000535102.2_Frame_Shift_Ins_p.S154fs	p.S187fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	6	859_860	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	187					B4DT12|B9A6L8|F5H1W7	Frame_Shift_Ins	INS	ENST00000221543.5	37	c.560_561insC	CCDS12785.1																																																																																				0.629	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		8	1874						8	1874	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			10	517						10	517	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	816						7	816	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45875071	45875072	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:45875071_45875072insT	ENST00000311275.7	-	14	2157_2158	c.1904_1905insA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.K583fs|ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.K662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.K655fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.K572fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGGCTTGGGCTTTTTTTTAAC	0.49																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)accfs		zinc finger, MYND-type containing 8																																				SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875071_45875072insT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1905dupA	20.37:g.45875079_45875079dupT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000355972.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Ins_p.T662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Ins_p.T655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Ins_p.T630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Ins_p.T572fs|ZMYND8_ENST00000540497.1_Frame_Shift_Ins_p.T583fs|ZMYND8_ENST00000262975.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000396281.4_Frame_Shift_Ins_p.T635fs|ZMYND8_ENST00000468376.2_5'UTR	p.T635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157_2158	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Ins	INS	ENST00000311275.7	37	c.1904_1905insA																																																																																					0.490	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		8	962						8	962	---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57599154	57599155	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57599154_57599155delTC	ENST00000217133.1	+	4	941_942	c.672_673delTC	c.(670-675)gatctcfs	p.L225fs		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	225					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCTATGGGGATCTCAACCACCT	0.554																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(670-675)gatcfs		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)																																			SO:0001589	frameshift_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599154_57599155delTC	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.672_673delTC	20.37:g.57599156_57599157delTC	ENSP00000217133:p.Leu225fs						p.DL224fs	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	941_942	+	all_lung(29;0.00711)		224						Frame_Shift_Del	DEL	ENST00000217133.1	37	c.672_673delTC	CCDS13475.1																																																																																				0.554	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		12	621						12	621	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	32						9	32	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17119421	17119422	+	lincRNA	INS	-	-	ATTT	rs201717356|rs371888525		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:17119421_17119422insATTT	ENST00000426585.1	+	0	280									transmembrane phosphatase with tensin homology pseudogene 1																		TTTATCTTTGCatttatttatt	0.351																																						ENST00000426585.1																			0																																																			0							g.chr22:17119421_17119422insATTT			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119426_17119429dupATTT														0	280	+									RNA	INS	ENST00000426585.1	37																																																																																						0.351	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		12	40						12	40	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			13	21						13	21	---	---	---	---
