#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
B9D2	80776	broad.mit.edu	37	19	41858677	41858677	+	IGR	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41858677C>G	ENST00000243578.3	-	0	1027				CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_Missense_Mutation_p.E91D|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						GTTCTGCACTCTCCCCGGCCA	0.721											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(271-273)gaG>gaC		transforming growth factor, beta 1	Hyaluronidase(DB00070)						20.0	21.0	21.0					19																	41858677		2202	4296	6498	SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858677C>G	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858677C>G			OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	TMEM91_ENST00000539627.1_Intron	p.E91D	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	1139	-			91						Missense_Mutation	SNP	ENST00000243578.3	37	c.273G>C	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406554	0.25378	.	.	ENSG00000105329	ENST00000221930	T	0.66460	-0.21	3.2	0.945	0.19543	Transforming growth factor-beta, N-terminal (1);	0.304197	0.32301	N	0.006286	T	0.52901	0.1763	L	0.54323	1.7	0.80722	D	1	B	0.22080	0.064	B	0.25140	0.058	T	0.28808	-1.0032	10	0.11182	T	0.66	-25.0944	6.5021	0.22174	0.0:0.542:0.3451:0.1129	.	91	P01137	TGFB1_HUMAN	D	91	ENSP00000221930:E91D	ENSP00000221930:E91D	E	-	3	2	TGFB1	46550517	0.978000	0.34361	0.985000	0.45067	0.013000	0.08279	2.363000	0.44178	0.322000	0.23283	-0.302000	0.09304	GAG		0.721	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		11	18	0	0	0	1	0	11	18				
RELN	5649	broad.mit.edu	37	7	103205840	103205840	+	Missense_Mutation	SNP	C	C	T	rs147657490	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:103205840C>T	ENST00000428762.1	-	34	5254	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	RELN_ENST00000424685.2_Missense_Mutation_p.E1699K|RELN_ENST00000343529.5_Missense_Mutation_p.E1699K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1699					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACACTCTTCGGTGACAAGA	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5095-5097)Gaa>Aaa		reelin		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	141.0	119.0	126.0		5095,5095	5.1	1.0	7	dbSNP_134	126	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	56,56	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	1699/3461,1699/3459	103205840	6,13000	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205840C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5095G>A	7.37:g.103205840C>T	ENSP00000392423:p.Glu1699Lys					RELN_ENST00000343529.5_Missense_Mutation_p.E1699K|RELN_ENST00000424685.2_Missense_Mutation_p.E1699K	p.E1699K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5254	-			1699					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5095G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178098	0.38511	2.27E-4	5.81E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23950	1.88;1.88;1.88	6.02	5.14	0.70334	Neuraminidase (1);	0.228496	0.47093	D	0.000256	T	0.20455	0.0492	L	0.31752	0.955	0.41428	D	0.987845	B;B	0.15141	0.012;0.005	B;B	0.15484	0.013;0.004	T	0.02491	-1.1151	10	0.33940	T	0.23	.	14.7135	0.69251	0.0:0.9313:0.0:0.0687	.	1699;1699	P78509-2;P78509	.;RELN_HUMAN	K	1699	ENSP00000392423:E1699K;ENSP00000345694:E1699K;ENSP00000388446:E1699K	ENSP00000345694:E1699K	E	-	1	0	RELN	102993076	0.995000	0.38212	0.954000	0.39281	0.888000	0.51559	2.990000	0.49401	2.865000	0.98341	0.655000	0.94253	GAA		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	37	0	0	0	1	0	7	37				
TECTB	6975	broad.mit.edu	37	10	114063023	114063023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:114063023G>A	ENST00000369422.3	+	10	943	c.943G>A	c.(943-945)Gtt>Att	p.V315I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	315						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTCCACAGATGTTCTCCACCA	0.498																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(943-945)Gtt>Att		tectorin beta							248.0	205.0	220.0					10																	114063023		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114063023G>A	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.943G>A	10.37:g.114063023G>A	ENSP00000358430:p.Val315Ile						p.V315I	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	10	943	+		Colorectal(252;0.198)	315					Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.943G>A	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161649	0.21538	.	.	ENSG00000119913	ENST00000369422	T	0.73897	-0.79	5.78	4.66	0.58398	.	0.564481	0.19863	N	0.104397	T	0.50990	0.1648	N	0.08118	0	0.31281	N	0.690628	B	0.02656	0.0	B	0.01281	0.0	T	0.47420	-0.9119	10	0.16896	T	0.51	.	9.9559	0.41666	0.127:0.0:0.873:0.0	.	315	Q96PL2	TECTB_HUMAN	I	315	ENSP00000358430:V315I	ENSP00000358430:V315I	V	+	1	0	TECTB	114053013	0.899000	0.30636	0.716000	0.30569	0.310000	0.27922	1.673000	0.37534	2.894000	0.99253	0.655000	0.94253	GTT		0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		58	43	0	0	0	1	0	58	43				
CPT2	1376	broad.mit.edu	37	1	53676585	53676585	+	Silent	SNP	G	G	A	rs398123153|rs397509431		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:53676585G>A	ENST00000371486.3	+	4	1754	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	413					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TCACGGTGCAGAAACTCAACT	0.478																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15	GRCh37	CD991686	CPT2	D		c.(1237-1239)caG>caA		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						54.0	55.0	55.0					1																	53676585		2203	4300	6503	SO:0001819	synonymous_variant	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676585G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1239G>A	1.37:g.53676585G>A						RP5-1024G6.2_ENST00000452466.1_RNA	p.Q413Q	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1754	+			413					B2R6S0|Q5SW68|Q9BQ26	Silent	SNP	ENST00000371486.3	37	c.1239G>A	CCDS575.1																																																																																				0.478	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		6	27	0	0	0	1	0	6	27				
NSUN2	54888	broad.mit.edu	37	5	6632788	6632788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:6632788C>T	ENST00000264670.6	-	2	489	c.178G>A	c.(178-180)Gag>Aag	p.E60K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|NSUN2_ENST00000539938.1_5'UTR|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	60					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTCGCCCTCGGGCACGATC	0.562																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(178-180)Gag>Aag		NOP2/Sun RNA methyltransferase family, member 2							83.0	89.0	87.0					5																	6632788		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6632788C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.178G>A	5.37:g.6632788C>T	ENSP00000264670:p.Glu60Lys					NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|NSUN2_ENST00000539938.1_5'UTR	p.E60K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			2	489	-			60					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.178G>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120375	0.77323	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.39056	1.1;1.11	4.81	3.94	0.45596	.	0.117980	0.56097	D	0.000034	T	0.34978	0.0916	M	0.67397	2.05	0.80722	D	1	P;B	0.36010	0.532;0.448	B;B	0.28553	0.053;0.091	T	0.14643	-1.0465	10	0.36615	T	0.2	-38.3956	8.3807	0.32470	0.0:0.7554:0.1569:0.0877	.	60;60	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	60	ENSP00000264670:E60K;ENSP00000420957:E60K	ENSP00000264670:E60K	E	-	1	0	NSUN2	6685788	0.998000	0.40836	0.968000	0.41197	0.980000	0.70556	4.194000	0.58393	1.026000	0.39733	0.655000	0.94253	GAG		0.562	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		9	123	0	0	0	1	0	9	123				
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:39990047C>T	ENST00000332312.3	-	4	2354	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672																																						ENST00000332312.3																			2	Substitution - Missense(2)	p.R721K(1)|p.R721I(1)	lung(2)	biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(2161-2163)aGa>aAa		elastin microfibril interfacer 3							35.0	28.0	31.0					20																	39990047		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990047C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2162G>A	20.37:g.39990047C>T	ENSP00000332806:p.Arg721Lys						p.R721K	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	2354	-		Myeloproliferative disorder(115;0.00425)	721					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.2162G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	4.234	0.042325	0.08196	.	.	ENSG00000183798	ENST00000332312	T	0.13538	2.58	5.28	-0.442	0.12253	.	0.660717	0.15939	N	0.237266	T	0.05686	0.0149	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	.	.	.	-6.8163	1.9571	0.03378	0.1208:0.2557:0.3681:0.2555	.	721	Q9NT22	EMIL3_HUMAN	K	721	ENSP00000332806:R721K	.	R	-	2	0	EMILIN3	39423461	0.000000	0.05858	0.459000	0.27081	0.733000	0.41908	0.319000	0.19522	0.217000	0.20800	0.561000	0.74099	AGA		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		4	28	0	0	0	1	0	4	28				
APOA4	337	broad.mit.edu	37	11	116692567	116692567	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692567C>T	ENST00000357780.3	-	3	321	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	69	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		cgtAAGTGTTCACTTCTCCAA	0.532																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(205-207)gtG>gtA		apolipoprotein A-IV							138.0	129.0	132.0					11																	116692567		2201	4296	6497	SO:0001819	synonymous_variant	337							g.chr11:116692567C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.207G>A	11.37:g.116692567C>T							p.V69V	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	321	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.207G>A	CCDS31681.1																																																																																				0.532	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		37	90	0	0	0	1	0	37	90				
ADCY1	107	broad.mit.edu	37	7	45632418	45632418	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:45632418C>T	ENST00000297323.7	+	2	722	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	ADCY1_ENST00000432715.1_Silent_p.L9L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	234					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGCGGATTCTGACTGAGCG	0.572																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(700-702)Ctg>Ttg		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						218.0	186.0	197.0					7																	45632418		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45632418C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.700C>T	7.37:g.45632418C>T						ADCY1_ENST00000432715.1_Silent_p.L9L	p.L234L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			2	722	+			234					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.700C>T	CCDS34631.1																																																																																				0.572	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		55	127	0	0	0	1	0	55	127				
FRMPD3	84443	broad.mit.edu	37	X	106845221	106845221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:106845221C>T	ENST00000276185.4	+	16	4051	c.4051C>T	c.(4051-4053)Ccc>Tcc	p.P1351S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1351						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GACACCAGTGCCCAGCCTCCG	0.687																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4051-4053)Ccc>Tcc		FERM and PDZ domain containing 3							30.0	31.0	31.0					X																	106845221		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106845221C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4051C>T	X.37:g.106845221C>T	ENSP00000276185:p.Pro1351Ser						p.P1351S			Q5JV73	FRPD3_HUMAN			16	4051	+			1351					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.4051C>T		.	.	.	.	.	.	.	.	.	.	c	5.032	0.191578	0.09547	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.14266	2.53;2.52	4.14	3.28	0.37604	.	0.122231	0.31721	U	0.007167	T	0.10035	0.0246	N	0.19112	0.55	0.21553	N	0.999645	.	.	.	.	.	.	T	0.28870	-1.0030	8	0.25106	T	0.35	.	10.3733	0.44066	0.0:0.9009:0.0:0.0991	.	.	.	.	S	1351;1299	ENSP00000276185:P1351S;ENSP00000398668:P1299S	ENSP00000276185:P1351S	P	+	1	0	FRMPD3	106731877	1.000000	0.71417	0.139000	0.22197	0.359000	0.29487	2.354000	0.44098	0.773000	0.33404	0.427000	0.28365	CCC		0.687	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		3	31	0	0	0	1	0	3	31				
ETV7	51513	broad.mit.edu	37	6	36353323	36353323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:36353323G>A	ENST00000340181.4	-	2	371	c.130C>T	c.(130-132)Cca>Tca	p.P44S	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.P44S|ETV7_ENST00000339796.5_Missense_Mutation_p.P44S|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000373738.1_Missense_Mutation_p.P44S	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	44	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTCTTCCTGGCAGCTTGCAG	0.473																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(130-132)Cca>Tca		ets variant 7							97.0	100.0	99.0					6																	36353323		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36353323G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.130C>T	6.37:g.36353323G>A	ENSP00000341843:p.Pro44Ser					ETV7_ENST00000340181.4_Missense_Mutation_p.P44S|ETV7_ENST00000373737.4_Missense_Mutation_p.P44S|ETV7_ENST00000339796.5_Missense_Mutation_p.P44S|ETV7_ENST00000538992.1_Intron	p.P44S	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			2	975	-			44			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.130C>T	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423690	0.62733	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738	T;T;T;T	0.46451	1.64;1.64;1.64;0.87	3.87	3.87	0.44632	Sterile alpha motif/pointed domain (1);Pointed domain (2);	0.000000	0.85682	U	0.000000	T	0.51534	0.1680	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.972	D;D;D;D;D	0.97110	0.996;0.996;1.0;0.998;0.943	T	0.53337	-0.8453	10	0.42905	T	0.14	.	13.6241	0.62155	0.0:0.0:1.0:0.0	.	44;44;44;44;44	Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;ETV7_HUMAN;.;.	S	44	ENSP00000342260:P44S;ENSP00000341843:P44S;ENSP00000362842:P44S;ENSP00000362843:P44S	ENSP00000342260:P44S	P	-	1	0	ETV7	36461301	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	5.088000	0.64486	1.721000	0.51461	0.460000	0.39030	CCA		0.473	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		61	83	0	0	0	1	0	61	83				
CTH	1491	broad.mit.edu	37	1	70897772	70897772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:70897772G>A	ENST00000370938.3	+	8	875	c.731G>A	c.(730-732)gGa>gAa	p.G244E	CTH_ENST00000346806.2_Missense_Mutation_p.G200E|CTH_ENST00000411986.2_Missense_Mutation_p.G212E	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCAGCTCTTGGAGCAGTTCCA	0.438																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(634-636)gGa>gAa		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						123.0	121.0	122.0					1																	70897772		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70897772G>A	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.731G>A	1.37:g.70897772G>A	ENSP00000359976:p.Gly244Glu					CTH_ENST00000346806.2_Missense_Mutation_p.G200E|CTH_ENST00000370938.3_Missense_Mutation_p.G244E	p.G212E	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			7	833	+			244					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.635G>A	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698785	0.68501	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.96716	-4.1;-4.1;-4.1	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.098579	0.64402	D	0.000001	D	0.99133	0.9701	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.994;0.999	D	0.99069	1.0833	10	0.87932	D	0	-12.7342	19.3776	0.94518	0.0:0.0:1.0:0.0	.	212;200;244	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	E	212;244;200	ENSP00000413407:G212E;ENSP00000359976:G244E;ENSP00000311554:G200E	ENSP00000311554:G200E	G	+	2	0	CTH	70670360	1.000000	0.71417	0.690000	0.30148	0.217000	0.24651	9.401000	0.97294	2.761000	0.94854	0.650000	0.86243	GGA		0.438	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		6	24	0	0	0	1	0	6	24				
DENND3	22898	broad.mit.edu	37	8	142199099	142199099	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:142199099G>A	ENST00000262585.2	+	19	3137	c.2859G>A	c.(2857-2859)atG>atA	p.M953I	DENND3_ENST00000519811.1_Missense_Mutation_p.M1033I|DENND3_ENST00000424248.1_Missense_Mutation_p.M901I|DENND3_ENST00000523308.1_Missense_Mutation_p.M3I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	953					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGTGATGGCCGACCAGA	0.512																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(3097-3099)atG>atA		DENN/MADD domain containing 3							102.0	78.0	86.0					8																	142199099		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142199099G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2859G>A	8.37:g.142199099G>A	ENSP00000262585:p.Met953Ile					DENND3_ENST00000424248.1_Missense_Mutation_p.M901I|DENND3_ENST00000262585.2_Missense_Mutation_p.M953I|DENND3_ENST00000523308.1_Missense_Mutation_p.M3I	p.M1033I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		19	3169	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		953					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.3099G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.94|11.94	1.789358|1.789358	0.31685|0.31685	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	.|T;T;T;T	.|0.43688	.|1.71;1.71;1.71;0.94	5.15|5.15	5.15|5.15	0.70609|0.70609	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.197851	.|0.53938	.|D	.|0.000046	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.60455|0.60455	1.87|1.87	0.37093|0.37093	D|D	0.899537|0.899537	.|P;D;P	.|0.67145	.|0.93;0.996;0.93	.|B;D;B	.|0.75484	.|0.379;0.986;0.379	T|T	0.65569|0.65569	-0.6136|-0.6136	5|10	.|0.59425	.|D	.|0.04	-40.2517|-40.2517	12.0444|12.0444	0.53471|0.53471	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|1033;3;953	.|E9PF32;A2RUS2-3;A2RUS2	.|.;.;DEND3_HUMAN	S|I	958|953;901;1033;3	.|ENSP00000262585:M953I;ENSP00000410594:M901I;ENSP00000428714:M1033I;ENSP00000430912:M3I	.|ENSP00000262585:M953I	G|M	+|+	1|3	0|0	DENND3|DENND3	142268281|142268281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.374000|0.374000	0.29953|0.29953	3.882000|3.882000	0.56160|0.56160	2.394000|2.394000	0.81467|0.81467	0.478000|0.478000	0.44815|0.44815	GGC|ATG		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		8	51	0	0	0	1	0	8	51				
BUB1B	701	broad.mit.edu	37	15	40462759	40462759	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:40462759G>A	ENST00000287598.6	+	4	456	c.261G>A	c.(259-261)caG>caA	p.Q87Q	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Silent_p.Q101Q	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	87	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGACAGAGCAGAACTATCCTC	0.378			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(259-261)caG>caA		BUB1 mitotic checkpoint serine/threonine kinase B							103.0	98.0	100.0					15																	40462759		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462759G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.261G>A	15.37:g.40462759G>A						BUB1B_ENST00000412359.3_Silent_p.Q101Q|BUB1B_ENST00000560120.1_3'UTR	p.Q87Q	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	4	456	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	87			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.261G>A	CCDS10053.1																																																																																				0.378	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			3	33	0	0	0	1	0	3	33				
CELSR2	1952	broad.mit.edu	37	1	109805502	109805502	+	Missense_Mutation	SNP	G	G	A	rs150273941		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:109805502G>A	ENST00000271332.3	+	7	4680	c.4619G>A	c.(4618-4620)cGg>cAg	p.R1540Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1540	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCCGAATGCGGCAGTTCGTG	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4618-4620)cGg>cAg		cadherin, EGF LAG seven-pass G-type receptor 2		G	GLN/ARG	0,4406		0,0,2203	56.0	55.0	56.0		4619	4.7	1.0	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1540/2924	109805502	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805502G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4619G>A	1.37:g.109805502G>A	ENSP00000271332:p.Arg1540Gln						p.R1540Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	7	4680	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1540			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4619G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853152	0.91355	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.79352	-1.26	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79240	0.4412	M	0.61703	1.905	0.52099	D	0.999948	D	0.59767	0.986	P	0.53102	0.718	T	0.79657	-0.1712	9	0.48119	T	0.1	.	18.2754	0.90081	0.0:0.0:1.0:0.0	.	1540	Q9HCU4	CELR2_HUMAN	Q	1540	ENSP00000271332:R1540Q	ENSP00000271332:R1540Q	R	+	2	0	CELSR2	109607025	1.000000	0.71417	0.967000	0.41034	0.908000	0.53690	6.086000	0.71352	2.630000	0.89119	0.561000	0.74099	CGG		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		11	51	0	0	0	1	0	11	51				
LRRC3B	116135	broad.mit.edu	37	3	26751183	26751183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:26751183G>A	ENST00000396641.2	+	2	612	c.20G>A	c.(19-21)tGg>tAg	p.W7*	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Nonsense_Mutation_p.W7*|LRRC3B_ENST00000417744.1_Nonsense_Mutation_p.W7*	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	7						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAGACCTGTGGTTAACCCGT	0.473																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(19-21)tGg>tAg		leucine rich repeat containing 3B							190.0	182.0	184.0					3																	26751183		2203	4300	6503	SO:0001587	stop_gained	116135					integral to membrane		g.chr3:26751183G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.20G>A	3.37:g.26751183G>A	ENSP00000379880:p.Trp7*					LRRC3B_ENST00000456208.2_Nonsense_Mutation_p.W7*|LRRC3B_ENST00000417744.1_Nonsense_Mutation_p.W7*	p.W7*	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	612	+			7					Q5M8T0	Nonsense_Mutation	SNP	ENST00000396641.2	37	c.20G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	35	5.542269	0.96474	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	.	.	.	5.87	5.87	0.94306	.	0.307323	0.39083	N	0.001466	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5513	19.2073	0.93736	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000379880:W7X	W	+	2	0	LRRC3B	26726187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.405000	0.73272	2.780000	0.95670	0.655000	0.94253	TGG		0.473	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		14	60	0	0	0	1	0	14	60				
MCTP2	55784	broad.mit.edu	37	15	94884146	94884146	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:94884146A>G	ENST00000357742.4	+	6	962	c.962A>G	c.(961-963)aAg>aGg	p.K321R	MCTP2_ENST00000451018.3_Missense_Mutation_p.K321R|MCTP2_ENST00000543482.1_Missense_Mutation_p.K321R|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	321					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGATTTCAAGAGACACGTA	0.378																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(961-963)aAg>aGg		multiple C2 domains, transmembrane 2							78.0	77.0	78.0					15																	94884146		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94884146A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.962A>G	15.37:g.94884146A>G	ENSP00000350377:p.Lys321Arg					MCTP2_ENST00000543482.1_Missense_Mutation_p.K321R|MCTP2_ENST00000451018.3_Missense_Mutation_p.K321R|MCTP2_ENST00000331706.4_5'UTR	p.K321R	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		6	962	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		321					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.962A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639363	0.67244	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.72615	-0.67;-0.34;-0.17	5.77	5.77	0.91146	.	0.049145	0.85682	D	0.000000	T	0.71273	0.3320	N	0.17312	0.475	0.80722	D	1	D;P;P;D;D	0.89917	0.997;0.956;0.927;0.995;1.0	D;P;P;P;D	0.91635	0.955;0.785;0.788;0.904;0.999	T	0.66814	-0.5828	10	0.11485	T	0.65	.	15.762	0.78091	1.0:0.0:0.0:0.0	.	321;321;321;321;321	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	R	321	ENSP00000438521:K321R;ENSP00000395109:K321R;ENSP00000350377:K321R	ENSP00000350377:K321R	K	+	2	0	MCTP2	92685150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.715000	0.84713	2.192000	0.70111	0.533000	0.62120	AAG		0.378	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		7	21	0	0	0	1	0	7	21				
UBE4A	9354	broad.mit.edu	37	11	118253482	118253482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:118253482G>T	ENST00000431736.2	+	13	2281	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.E730*|UBE4A_ENST00000545354.1_Nonsense_Mutation_p.E202*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGTGGACATCGAATTTACAGG	0.443																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2188-2190)Gaa>Taa		ubiquitination factor E4A							99.0	97.0	98.0					11																	118253482		2200	4296	6496	SO:0001587	stop_gained	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118253482G>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2209G>T	11.37:g.118253482G>T	ENSP00000387362:p.Glu737*					UBE4A_ENST00000545354.1_Nonsense_Mutation_p.E202*|UBE4A_ENST00000431736.2_Nonsense_Mutation_p.E737*	p.E730*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	13	2319	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	730						Nonsense_Mutation	SNP	ENST00000431736.2	37	c.2188G>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	41	8.687114	0.98914	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7284	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	730;737;202	.	ENSP00000252108:E730X	E	+	1	0	UBE4A	117758692	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	9.869000	0.99810	2.683000	0.91414	0.591000	0.81541	GAA		0.443	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		9	57	1	0	0.000442599	1	0.000454643	9	57				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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		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"""		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(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	CM031387	TP53	M		c.(892-894)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>A	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.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	p.E298*	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)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	31	1	0	2.95478e-19	1	3.38009e-19	39	31				
TOPBP1	11073	broad.mit.edu	37	3	133374295	133374295	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:133374295T>C	ENST00000260810.5	-	6	712	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	194					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACACTTGAAATCTTCCATGTT	0.328								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(580-582)gAt>gGt	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							84.0	78.0	80.0					3																	133374295		1845	4085	5930	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133374295T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.581A>G	3.37:g.133374295T>C	ENSP00000260810:p.Asp194Gly					TOPBP1_ENST00000511439.1_5'UTR	p.D194G	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			6	712	-			194					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.581A>G	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.23|16.23	3.064213|3.064213	0.55432|0.55432	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000260810|ENST00000508524	T|.	0.12361|.	2.69|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.237086|.	0.43416|.	D|.	0.000563|.	T|T	0.63379|0.63379	0.2506|0.2506	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.33512|.	0.415|.	B|.	0.43413|.	0.419|.	T|T	0.62440|0.62440	-0.6854|-0.6854	10|5	0.27082|.	T|.	0.32|.	.|.	13.9179|13.9179	0.63911|0.63911	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	194|.	Q92547|.	TOPB1_HUMAN|.	G|V	194|39	ENSP00000260810:D194G|.	ENSP00000260810:D194G|.	D|I	-|-	2|1	0|0	TOPBP1|TOPBP1	134856985|134856985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.138000|6.138000	0.71717|0.71717	1.740000|1.740000	0.51718|0.51718	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.328	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		3	30	0	0	0	1	0	3	30				
PLCL1	5334	broad.mit.edu	37	2	199011517	199011517	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:199011517T>C	ENST00000428675.1	+	6	3517	c.3119T>C	c.(3118-3120)cTg>cCg	p.L1040P	PLCL1_ENST00000437704.2_Missense_Mutation_p.L942P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1040					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGATCTGTTGAAGAAT	0.478																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3118-3120)cTg>cCg		phospholipase C-like 1	Quinacrine(DB01103)						99.0	93.0	95.0					2																	199011517		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:199011517T>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3119T>C	2.37:g.199011517T>C	ENSP00000402861:p.Leu1040Pro					PLCL1_ENST00000437704.2_Missense_Mutation_p.L942P	p.L1040P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			6	3517	+			1040					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.3119T>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754199	0.69648	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.27104	1.69;1.78	5.97	5.97	0.96955	.	0.000000	0.45606	D	0.000354	T	0.53610	0.1807	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.54642	-0.8263	9	.	.	.	.	16.4461	0.83932	0.0:0.0:0.0:1.0	.	1040;966	Q15111;B4DYZ4	PLCL1_HUMAN;.	P	1040;942	ENSP00000402861:L1040P;ENSP00000414138:L942P	.	L	+	2	0	PLCL1	198719762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.654000	0.74387	2.285000	0.76669	0.528000	0.53228	CTG		0.478	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	31	0	0	0	1	0	20	31				
IRF6	3664	broad.mit.edu	37	1	209964161	209964161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209964161G>A	ENST00000367021.3	-	7	911	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q152*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	247					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CGGCAGCCCTGAGGGTTGCTC	0.572										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(739-741)Cag>Tag		interferon regulatory factor 6							80.0	75.0	76.0					1																	209964161		2203	4300	6503	SO:0001587	stop_gained	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209964161G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.739C>T	1.37:g.209964161G>A	ENSP00000355988:p.Gln247*	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q152*	p.Q247*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	911	-			247					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	ENST00000367021.3	37	c.739C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	38	6.813185	0.97857	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	6.17	5.26	0.73747	.	0.104839	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	.	.	.	X	247;152;247	.	.	Q	-	1	0	IRF6	208030784	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.247000	0.95444	1.620000	0.50308	0.655000	0.94253	CAG		0.572	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		10	60	0	0	0	1	0	10	60				
LAMA1	284217	broad.mit.edu	37	18	6999461	6999461	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:6999461A>G	ENST00000389658.3	-	32	4739	c.4646T>C	c.(4645-4647)aTg>aCg	p.M1549T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1549	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTGTTTCCATCAGAATGTG	0.522																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4645-4647)aTg>aCg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49.0	44.0	45.0					18																	6999461		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999461A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4646T>C	18.37:g.6999461A>G	ENSP00000374309:p.Met1549Thr						p.M1549T	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			32	4739	-		Colorectal(10;0.172)	1549			Laminin EGF-like 17.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4646T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586265	0.03827	.	.	ENSG00000101680	ENST00000389658	T	0.53640	0.61	5.87	4.69	0.59074	EGF-like, laminin (3);	0.513144	0.19912	N	0.103264	T	0.21881	0.0527	N	0.01209	-0.955	0.33807	D	0.627356	B	0.15719	0.014	B	0.24006	0.05	T	0.19353	-1.0308	10	0.21540	T	0.41	.	13.1574	0.59524	0.8665:0.1335:0.0:0.0	.	1549	P25391	LAMA1_HUMAN	T	1549	ENSP00000374309:M1549T	ENSP00000374309:M1549T	M	-	2	0	LAMA1	6989461	0.992000	0.36948	0.582000	0.28627	0.035000	0.12851	3.017000	0.49615	1.027000	0.39758	0.533000	0.62120	ATG		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	43	0	0	0	1	0	5	43				
SOX2	6657	broad.mit.edu	37	3	181430499	181430499	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:181430499G>A	ENST00000325404.1	+	1	778	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SOX2_ENST00000431565.2_Silent_p.K117K	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	117					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GGAAAACCAAGACGCTCATGA	0.662			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															ENST00000325404.1				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(349-351)aaG>aaA		SRY (sex determining region Y)-box 2							18.0	23.0	21.0					3																	181430499		2201	4300	6501	SO:0001819	synonymous_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430499G>A	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.351G>A	3.37:g.181430499G>A						SOX2_ENST00000431565.2_Silent_p.K117K	p.K117K	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	778	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		117					Q14537	Silent	SNP	ENST00000325404.1	37	c.351G>A	CCDS3239.1																																																																																				0.662	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		8	70	0	0	0	1	0	8	70				
PEG3	5178	broad.mit.edu	37	19	57328078	57328078	+	Silent	SNP	G	G	A	rs202126306		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57328078G>A	ENST00000326441.9	-	10	2095	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.L578L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.L454L|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.L452L|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	578					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCAATCAGGGCAGAACTA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21210	0.0		0.0	False		,,,				2504	0.0					ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1732-1734)Ctg>Ttg		paternally expressed 3							115.0	95.0	102.0					19																	57328078		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328078G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1732C>T	19.37:g.57328078G>A						PEG3_ENST00000593695.1_Silent_p.L452L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.L578L|PEG3_ENST00000598410.1_Silent_p.L454L	p.L578L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2095	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	578					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1732C>T	CCDS12948.1																																																																																				0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			20	54	0	0	0	1	0	20	54				
INSIG1	3638	broad.mit.edu	37	7	155090046	155090046	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:155090046G>A	ENST00000340368.4	+	2	262	c.51G>A	c.(49-51)gcG>gcA	p.A17A	INSIG1_ENST00000342407.5_Silent_p.A17A|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000344756.4_Silent_p.A17A	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	17					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACAGCGCGAGGCGCCGAG	0.687																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(49-51)gcG>gcA		insulin induced gene 1							6.0	7.0	6.0					7																	155090046		2092	4106	6198	SO:0001819	synonymous_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155090046G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.51G>A	7.37:g.155090046G>A						INSIG1_ENST00000344756.4_Silent_p.A17A|INSIG1_ENST00000342407.5_Silent_p.A17A	p.A17A	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	262	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	17					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	ENST00000340368.4	37	c.51G>A	CCDS5938.1																																																																																				0.687	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		4	11	0	0	0	1	0	4	11				
LARS	51520	broad.mit.edu	37	5	145537113	145537113	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145537113C>A	ENST00000394434.2	-	10	1084	c.918G>T	c.(916-918)tgG>tgT	p.W306C	LARS_ENST00000510191.1_Missense_Mutation_p.W252C|LARS_ENST00000274562.9_Missense_Mutation_p.W279C|LARS_ENST00000545646.1_Missense_Mutation_p.W260C|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	306	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGACGAACCCAACAATTTG	0.398																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(916-918)tgG>tgT		leucyl-tRNA synthetase	L-Leucine(DB00149)						90.0	77.0	81.0					5																	145537113		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145537113C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.918G>T	5.37:g.145537113C>A	ENSP00000377954:p.Trp306Cys					LARS_ENST00000510191.1_Missense_Mutation_p.W252C|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.W260C|LARS_ENST00000274562.9_Missense_Mutation_p.W279C	p.W306C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1084	-			306			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.918G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783473	0.70222	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.5	5.5	0.81552	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	D	0.83494	0.0071	10	0.87932	D	0	-5.7601	19.7839	0.96430	0.0:1.0:0.0:0.0	.	279;260;306	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	C	306;260;252;279	ENSP00000377954:W306C;ENSP00000437791:W260C;ENSP00000426005:W252C;ENSP00000274562:W279C	ENSP00000274562:W279C	W	-	3	0	LARS	145517306	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.765000	0.85310	2.756000	0.94617	0.655000	0.94253	TGG		0.398	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	35	1	0	1.12685e-05	1	1.17754e-05	8	35				
SYT15	83849	broad.mit.edu	37	10	46962018	46962018	+	Missense_Mutation	SNP	C	C	G	rs568360310		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962018C>G	ENST00000374321.4	-	8	1284	c.1218G>C	c.(1216-1218)aaG>aaC	p.K406N	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.K459N|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374325.3_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	406						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAGCTCCTTGGGCTTGC	0.667																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1375-1377)aaG>aaC		synaptotagmin XV							48.0	59.0	56.0					10																	46962018		2099	4225	6324	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46962018C>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1218G>C	10.37:g.46962018C>G	ENSP00000363441:p.Lys406Asn					SYT15_ENST00000374321.4_Missense_Mutation_p.K406N|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA	p.K459N			Q9BQS2	SYT15_HUMAN			7	1964	-			406					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1377G>C	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.015709	0.75161	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.07800	3.16;3.16	4.71	3.81	0.43845	C2 calcium/lipid-binding domain, CaLB (1);	0.204778	0.51477	D	0.000090	T	0.10121	0.0248	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.48270	0.572	T	0.04242	-1.0966	10	0.87932	D	0	.	8.0746	0.30710	0.0:0.8099:0.0:0.1901	.	406	Q9BQS2	SYT15_HUMAN	N	245;459;406	ENSP00000363443:K459N;ENSP00000363441:K406N	ENSP00000363441:K406N	K	-	3	2	SYT15	46382024	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.480000	0.35464	1.295000	0.44724	-0.448000	0.05591	AAG		0.667	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		30	96	0	0	0	1	0	30	96				
SNAPC3	6619	broad.mit.edu	37	9	15453088	15453088	+	Missense_Mutation	SNP	C	C	G	rs369622830		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:15453088C>G	ENST00000380821.3	+	7	1041	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	SNAPC3_ENST00000380799.1_Missense_Mutation_p.Q86E	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	289					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TGGAAAGTTTCAGACTGCTAG	0.383																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(865-867)Cag>Gag		small nuclear RNA activating complex, polypeptide 3, 50kDa		C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	181.0	177.0	178.0		865	5.1	1.0	9		178	0,8600		0,0,4300	no	missense	SNAPC3	NM_001039697.1	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	289/412	15453088	1,13005	2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15453088C>G	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.865C>G	9.37:g.15453088C>G	ENSP00000370200:p.Gln289Glu					SNAPC3_ENST00000380799.1_Missense_Mutation_p.Q86E	p.Q289E	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	7	1041	+			289					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.865C>G	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295134	0.40594	2.27E-4	0.0	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000421710;ENST00000380799	T;T;T	0.40225	1.04;1.04;1.04	5.06	5.06	0.68205	.	0.231522	0.45126	D	0.000391	T	0.33235	0.0856	L	0.33189	0.99	0.51767	D	0.999935	B	0.14012	0.009	B	0.12156	0.007	T	0.14868	-1.0457	10	0.10377	T	0.69	-19.5903	18.431	0.90625	0.0:1.0:0.0:0.0	.	289	Q92966	SNPC3_HUMAN	E	289;239;239;86	ENSP00000370200:Q289E;ENSP00000391832:Q239E;ENSP00000370177:Q86E	ENSP00000370177:Q86E	Q	+	1	0	SNAPC3	15443088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.716000	0.61916	2.358000	0.79984	0.561000	0.74099	CAG		0.383	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		6	83	0	0	0	1	0	6	83				
TTC17	55761	broad.mit.edu	37	11	43419532	43419532	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:43419532G>T	ENST00000039989.4	+	8	941	c.927G>T	c.(925-927)ggG>ggT	p.G309G	TTC17_ENST00000299240.6_Silent_p.G309G|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	309					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATGCTTGGGGAATATAACC	0.448																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(925-927)ggG>ggT		tetratricopeptide repeat domain 17							161.0	146.0	151.0					11																	43419532		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43419532G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.927G>T	11.37:g.43419532G>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.G309G	p.G309G	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			8	941	+			309					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.927G>T	CCDS31466.1																																																																																				0.448	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	77	1	0	5.9392e-07	1	6.31563e-07	5	77				
PPP1R12A	4659	broad.mit.edu	37	12	80203692	80203692	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:80203692A>G	ENST00000450142.2	-	10	1604	c.1338T>C	c.(1336-1338)taT>taC	p.Y446Y	PPP1R12A_ENST00000546369.1_Silent_p.Y359Y|PPP1R12A_ENST00000550107.1_Silent_p.Y446Y|PPP1R12A_ENST00000437004.2_Silent_p.Y446Y|PPP1R12A_ENST00000261207.5_Silent_p.Y446Y	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	446					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CAAGTGCACCATAGCTGCCCG	0.438																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(1336-1338)taT>taC		protein phosphatase 1, regulatory subunit 12A							141.0	137.0	139.0					12																	80203692		1887	4100	5987	SO:0001819	synonymous_variant	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80203692A>G	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1338T>C	12.37:g.80203692A>G						PPP1R12A_ENST00000437004.2_Silent_p.Y446Y|PPP1R12A_ENST00000546369.1_Silent_p.Y359Y|PPP1R12A_ENST00000261207.5_Silent_p.Y446Y|PPP1R12A_ENST00000550107.1_Silent_p.Y446Y	p.Y446Y	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			10	1604	-			446					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	c.1338T>C	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	A	6.647	0.487811	0.12641	.	.	ENSG00000058272	ENST00000553081	.	.	.	5.86	-2.22	0.06952	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54944	-0.8217	4	.	.	.	.	11.2998	0.49298	0.5865:0.0:0.4135:0.0	.	.	.	.	T	50	.	.	M	-	2	0	PPP1R12A	78727823	0.857000	0.29778	0.991000	0.47740	0.836000	0.47400	0.051000	0.14141	-0.374000	0.07967	0.467000	0.42956	ATG		0.438	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		17	9	0	0	0	1	0	17	9				
PTPRZ1	5803	broad.mit.edu	37	7	121684554	121684554	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:121684554C>G	ENST00000393386.2	+	23	6427	c.6016C>G	c.(6016-6018)Cat>Gat	p.H2006D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H1139D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2006					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTCATATTCATGCCTATGT	0.433																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6016-6018)Cat>Gat		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							163.0	149.0	154.0					7																	121684554		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121684554C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6016C>G	7.37:g.121684554C>G	ENSP00000377047:p.His2006Asp					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H1139D	p.H2006D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			23	6427	+			2006					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6016C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974050	0.74246	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11495	2.77;2.77	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	T	0.38746	0.1052	M	0.83012	2.62	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.643;0.999	D;P;D	0.71184	0.961;0.476;0.972	T	0.27297	-1.0078	10	0.72032	D	0.01	.	19.3942	0.94598	0.0:1.0:0.0:0.0	.	1145;1139;2006	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	2006;1139	ENSP00000377047:H2006D;ENSP00000410000:H1139D	ENSP00000377047:H2006D	H	+	1	0	PTPRZ1	121471790	1.000000	0.71417	0.401000	0.26359	0.512000	0.34134	7.818000	0.86416	2.587000	0.87381	0.655000	0.94253	CAT		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		6	46	0	0	0	1	0	6	46				
ZNF285	26974	broad.mit.edu	37	19	44891190	44891190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:44891190C>A	ENST00000330997.4	-	4	1281	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	ZNF285_ENST00000591679.1_Missense_Mutation_p.G413V|ZNF285_ENST00000544719.2_Missense_Mutation_p.G406V|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AAAGCACTTGCCACACTCACT	0.493																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1216-1218)gGc>gTc		zinc finger protein 285							52.0	50.0	51.0					19																	44891190		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891190C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1217G>T	19.37:g.44891190C>A	ENSP00000333595:p.Gly406Val					ZNF285_ENST00000591679.1_Missense_Mutation_p.G413V|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G406V	p.G406V	NM_152354.3	NP_689567.3					4	1281	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1217G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695092	0.68386	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.23754	1.89	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56891	0.2016	M	0.90082	3.085	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.68838	-0.5303	9	0.87932	D	0	.	13.918	0.63914	0.0:1.0:0.0:0.0	.	430;406	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	V	429;406	ENSP00000333595:G406V	ENSP00000333595:G406V	G	-	2	0	ZNF285	49583030	0.887000	0.30362	0.041000	0.18516	0.967000	0.64934	2.200000	0.42724	1.598000	0.50083	0.298000	0.19748	GGC		0.493	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		16	29	1	0	5.01169e-05	1	5.20114e-05	16	29				
KIF20B	9585	broad.mit.edu	37	10	91528090	91528090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91528090C>G	ENST00000371728.3	+	30	5098	c.5033C>G	c.(5032-5034)aCt>aGt	p.T1678S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.T1708S|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1638S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1678	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACACCCAGAACTAATTTGAAA	0.289																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(5122-5124)aCt>aGt		kinesin family member 20B							60.0	66.0	64.0					10																	91528090		2201	4292	6493	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91528090C>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5033C>G	10.37:g.91528090C>G	ENSP00000360793:p.Thr1678Ser					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.T1678S|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1638S	p.T1708S			Q96Q89	KI20B_HUMAN			30	5195	+			1678			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.5123C>G		.	.	.	.	.	.	.	.	.	.	C	1.141	-0.649656	0.03506	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.40756	1.02;1.02;1.02	5.55	1.19	0.21007	.	0.983219	0.08301	N	0.966842	T	0.22898	0.0553	N	0.11560	0.145	0.52099	D	0.999942	B;B	0.14438	0.001;0.01	B;B	0.12156	0.001;0.007	T	0.16247	-1.0409	10	0.08599	T	0.76	-0.3921	11.4578	0.50191	0.0:0.4719:0.4569:0.0711	.	1678;1638	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	1638;1708;1678	ENSP00000260753:T1638S;ENSP00000411545:T1708S;ENSP00000360793:T1678S	ENSP00000260753:T1638S	T	+	2	0	KIF20B	91518070	0.553000	0.26513	0.419000	0.26584	0.493000	0.33554	-0.004000	0.12878	0.008000	0.14787	0.561000	0.74099	ACT		0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		8	27	0	0	0	1	0	8	27				
WSB2	55884	broad.mit.edu	37	12	118480989	118480989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:118480989G>A	ENST00000315436.3	-	3	517	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.L128F|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000441406.2_Missense_Mutation_p.L143F|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	126					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGTAGCAAGAACCAGGCAA	0.617																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(376-378)Ctt>Ttt		WD repeat and SOCS box containing 2							107.0	100.0	102.0					12																	118480989		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480989G>A	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.376C>T	12.37:g.118480989G>A	ENSP00000319474:p.Leu126Phe					WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.L128F|WSB2_ENST00000441406.2_Missense_Mutation_p.L143F|WSB2_ENST00000542304.1_5'UTR	p.L126F	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			3	517	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		126					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.376C>T	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049224	0.75846	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.301359	0.31797	N	0.007060	T	0.74884	0.3775	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76075	-0.3092	10	0.72032	D	0.01	-14.8726	10.9897	0.47543	0.0858:0.0:0.9142:0.0	.	126	Q9NYS7	WSB2_HUMAN	F	126;143;128;128	ENSP00000319474:L126F;ENSP00000409131:L143F;ENSP00000439450:L128F;ENSP00000440386:L128F	ENSP00000319474:L126F	L	-	1	0	WSB2	116965372	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	6.207000	0.72159	2.644000	0.89710	0.650000	0.86243	CTT		0.617	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		23	101	0	0	0	1	0	23	101				
PRUNE2	158471	broad.mit.edu	37	9	79318747	79318747	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:79318747G>A	ENST00000376718.3	-	9	7905	c.7782C>T	c.(7780-7782)ttC>ttT	p.F2594F	PRUNE2_ENST00000428286.1_Silent_p.F2235F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2594					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGTGTCTGGGAAGCTTGCTA	0.433																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6703-6705)ttC>ttT		prune homolog 2 (Drosophila)							110.0	102.0	105.0					9																	79318747		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318747G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7782C>T	9.37:g.79318747G>A						PRUNE2_ENST00000376718.3_Silent_p.F2594F	p.F2235F			Q8WUY3	PRUN2_HUMAN			9	7905	-			2594					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6705C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	5.106	0.205145	0.09704	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.87	3.78	0.43462	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.19160	-1.0314	4	.	.	.	0.6348	6.2263	0.20710	0.1792:0.0:0.682:0.1388	.	.	.	.	S	1916	.	.	P	-	1	0	PRUNE2	78508567	0.001000	0.12720	0.556000	0.28293	0.756000	0.42949	0.272000	0.18644	1.236000	0.43740	0.591000	0.81541	CCC		0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	54	0	0	0	1	0	5	54				
CUBN	8029	broad.mit.edu	37	10	17168789	17168789	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:17168789G>T	ENST00000377833.4	-	4	423	c.358C>A	c.(358-360)Ctt>Att	p.L120I	CUBN_ENST00000377823.1_Missense_Mutation_p.L120I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408																																						ENST00000377833.4																			1	Substitution - Missense(1)	p.L120V(1)	upper_aerodigestive_tract(1)	breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(358-360)Ctt>Att		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						137.0	124.0	128.0					10																	17168789		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17168789G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.358C>A	10.37:g.17168789G>T	ENSP00000367064:p.Leu120Ile					CUBN_ENST00000377823.1_Missense_Mutation_p.L120I	p.L120I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			4	423	-			120					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.358C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661305	0.14645	.	.	ENSG00000107611	ENST00000377833;ENST00000433666;ENST00000377823	T;D;D	0.89875	-0.99;-2.35;-2.58	4.62	4.62	0.57501	.	0.258488	0.20349	N	0.094093	T	0.78046	0.4222	N	0.19112	0.55	0.30461	N	0.77426	P	0.42409	0.779	B	0.38655	0.278	T	0.73427	-0.3986	10	0.13470	T	0.59	.	10.1327	0.42689	0.0:0.0:0.6857:0.3143	.	120	O60494	CUBN_HUMAN	I	120;7;120	ENSP00000367064:L120I;ENSP00000415970:L7I;ENSP00000367054:L120I	ENSP00000367054:L120I	L	-	1	0	CUBN	17208795	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	2.219000	0.42899	2.405000	0.81733	0.557000	0.71058	CTT		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	32	1	0	0.00198382	1	0.00203089	7	32				
SEMA3D	223117	broad.mit.edu	37	7	84651774	84651774	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:84651774C>T	ENST00000284136.6	-	11	1390	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	449	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTATCTGTGTCAGTCTGTAAT	0.403																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1345-1347)ctG>ctA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							278.0	244.0	256.0					7																	84651774		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651774C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1347G>A	7.37:g.84651774C>T						SEMA3D_ENST00000484038.1_5'UTR	p.L449L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			11	1390	-			449			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1347G>A	CCDS34676.1																																																																																				0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		19	145	0	0	0	1	0	19	145				
DSE	29940	broad.mit.edu	37	6	116758059	116758059	+	Nonsense_Mutation	SNP	C	C	T	rs199731077	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:116758059C>T	ENST00000331677.3	+	7	2872	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	DSE_ENST00000452085.3_Nonsense_Mutation_p.R810*|DSE_ENST00000359564.2_Nonsense_Mutation_p.R810*|DSE_ENST00000537543.1_Nonsense_Mutation_p.R829*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	810					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGAAAAACCGAAGGGCAGG	0.413																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2428-2430)Cga>Tga		dermatan sulfate epimerase							56.0	59.0	58.0					6																	116758059		2203	4300	6503	SO:0001587	stop_gained	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758059C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2428C>T	6.37:g.116758059C>T	ENSP00000332151:p.Arg810*					DSE_ENST00000537543.1_Nonsense_Mutation_p.R829*|DSE_ENST00000452085.3_Nonsense_Mutation_p.R810*|DSE_ENST00000359564.2_Nonsense_Mutation_p.R810*	p.R810*			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2872	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	810					Q5R3K6	Nonsense_Mutation	SNP	ENST00000331677.3	37	c.2428C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.940358	0.97952	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	6.16	6.16	0.99307	.	0.110374	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.926	13.6708	0.62424	0.2509:0.7491:0.0:0.0	.	.	.	.	X	810;829;810;810	.	ENSP00000332151:R810X	R	+	1	2	DSE	116864752	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.127000	0.64727	2.937000	0.99478	0.650000	0.86243	CGA		0.413	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		16	41	0	0	0	1	0	16	41				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	76	0	0	0	1	0	8	76				
PGAM2	5224	broad.mit.edu	37	7	44102506	44102506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102506C>T	ENST00000297283.3	-	3	676	c.619G>A	c.(619-621)Gag>Aag	p.E207K	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	207					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGGTTCAGCTCCATGATCGCC	0.552																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(619-621)Gag>Aag		phosphoglycerate mutase 2 (muscle)							145.0	118.0	127.0					7																	44102506		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102506C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.619G>A	7.37:g.44102506C>T	ENSP00000297283:p.Glu207Lys						p.E207K	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	676	-			207						Missense_Mutation	SNP	ENST00000297283.3	37	c.619G>A	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434668	0.62955	.	.	ENSG00000164708	ENST00000297283	T	0.80033	-1.33	4.82	4.82	0.62117	.	0.106795	0.64402	D	0.000008	T	0.67813	0.2933	N	0.20685	0.6	0.80722	D	1	B	0.30193	0.272	B	0.28011	0.085	T	0.64943	-0.6288	10	0.20519	T	0.43	-29.6968	15.8005	0.78450	0.0:1.0:0.0:0.0	.	207	P15259	PGAM2_HUMAN	K	207	ENSP00000297283:E207K	ENSP00000297283:E207K	E	-	1	0	PGAM2	44069031	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.711000	0.84669	2.416000	0.81992	0.456000	0.33151	GAG		0.552	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			25	58	0	0	0	1	0	25	58				
ST18	9705	broad.mit.edu	37	8	53071579	53071579	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:53071579C>A	ENST00000276480.7	-	15	2368	c.1685G>T	c.(1684-1686)aGc>aTc	p.S562I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	562					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGACCGTAGCTATAAGAGCT	0.532																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1684-1686)aGc>aTc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							105.0	111.0	109.0					8																	53071579		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071579C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1685G>T	8.37:g.53071579C>A	ENSP00000276480:p.Ser562Ile						p.S562I	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			15	2368	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	562					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1685G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157630	0.78114	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.44083	0.93;0.93	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.272827	0.49916	D	0.000123	T	0.55226	0.1907	L	0.51422	1.61	0.41368	D	0.987476	D;P	0.61697	0.99;0.917	P;P	0.60541	0.876;0.828	T	0.55347	-0.8155	10	0.72032	D	0.01	-2.0256	13.8098	0.63256	0.0:0.9305:0.0:0.0695	.	562;562	E5RHS3;O60284	.;ST18_HUMAN	I	562	ENSP00000276480:S562I;ENSP00000428521:S562I	ENSP00000276480:S562I	S	-	2	0	ST18	53234132	0.979000	0.34478	0.978000	0.43139	0.979000	0.70002	2.053000	0.41326	2.894000	0.99253	0.655000	0.94253	AGC		0.532	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			35	100	1	0	1.61788e-16	1	1.82996e-16	35	100				
MAP3K10	4294	broad.mit.edu	37	19	40718876	40718876	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:40718876G>C	ENST00000253055.3	+	7	2005	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	573					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTGGGAGGAGAGGAGAGGTG	0.662																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1717-1719)Gag>Cag		mitogen-activated protein kinase kinase kinase 10							35.0	39.0	38.0					19																	40718876		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40718876G>C	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1717G>C	19.37:g.40718876G>C	ENSP00000253055:p.Glu573Gln						p.E573Q	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			7	2005	+			573					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1717G>C	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402157	0.62288	.	.	ENSG00000130758	ENST00000253055	T	0.13420	2.59	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.58101	1.795	0.49051	D	0.999742	P	0.47302	0.893	P	0.51701	0.677	T	0.02385	-1.1167	10	0.19147	T	0.46	.	14.8267	0.70120	0.0:0.0:1.0:0.0	.	573	Q02779	M3K10_HUMAN	Q	573	ENSP00000253055:E573Q	ENSP00000253055:E573Q	E	+	1	0	MAP3K10	45410716	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	9.585000	0.98223	2.165000	0.68154	0.563000	0.77884	GAG		0.662	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		17	27	0	0	0	1	0	17	27				
CMTR1	23070	broad.mit.edu	37	6	37442363	37442363	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:37442363A>T	ENST00000373451.4	+	18	2049	c.1885A>T	c.(1885-1887)Aca>Tca	p.T629S		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	629					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGACCTGAAGACAGAGCTGCC	0.547																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1885-1887)Aca>Tca									97.0	91.0	93.0					6																	37442363		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37442363A>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1885A>T	6.37:g.37442363A>T	ENSP00000362550:p.Thr629Ser						p.T629S	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			18	2049	+			629					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1885A>T	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675206	0.67928	.	.	ENSG00000137200	ENST00000373451;ENST00000373420	D	0.84298	-1.83	5.95	5.95	0.96441	.	0.093959	0.64402	D	0.000001	T	0.76456	0.3990	M	0.63428	1.95	0.46823	D	0.999219	B	0.31817	0.341	B	0.25614	0.062	T	0.78692	-0.2105	10	0.51188	T	0.08	-11.5579	15.2399	0.73461	1.0:0.0:0.0:0.0	.	629	Q8N1G2	MTR1_HUMAN	S	629;36	ENSP00000362550:T629S	ENSP00000362519:T36S	T	+	1	0	FTSJD2	37550341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.781000	0.75068	2.279000	0.76181	0.533000	0.62120	ACA		0.547	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		6	43	0	0	0	1	0	6	43				
PGAM2	5224	broad.mit.edu	37	7	44102419	44102419	+	Missense_Mutation	SNP	C	C	T	rs144070530		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102419C>T	ENST00000297283.3	-	3	763	c.706G>A	c.(706-708)Gag>Aag	p.E236K	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	236					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ACCGTTTCCTCATCACCCAGG	0.612																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(706-708)Gag>Aag		phosphoglycerate mutase 2 (muscle)		C	LYS/GLU	0,4406		0,0,2203	140.0	102.0	115.0		706	5.0	1.0	7	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PGAM2	NM_000290.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	236/254	44102419	2,13004	2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102419C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.706G>A	7.37:g.44102419C>T	ENSP00000297283:p.Glu236Lys						p.E236K	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	763	-			236						Missense_Mutation	SNP	ENST00000297283.3	37	c.706G>A	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870348	0.72065	0.0	2.33E-4	ENSG00000164708	ENST00000297283	T	0.79940	-1.32	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.64080	1.96	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.75233	-0.3390	10	0.44086	T	0.13	-42.2702	16.1772	0.81858	0.0:1.0:0.0:0.0	.	236	P15259	PGAM2_HUMAN	K	236	ENSP00000297283:E236K	ENSP00000297283:E236K	E	-	1	0	PGAM2	44068944	1.000000	0.71417	0.977000	0.42913	0.964000	0.63967	5.960000	0.70348	2.497000	0.84241	0.456000	0.33151	GAG		0.612	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			18	46	0	0	0	1	0	18	46				
POTEM	641455	broad.mit.edu	37	14	20020023	20020023	+	Silent	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:20020023G>C	ENST00000551509.1	-	1	249	c.198C>G	c.(196-198)cgC>cgG	p.R66R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	66										endometrium(4)|kidney(1)|lung(4)	9						GGAAGCAGTGGCGGCACCACT	0.597																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(196-198)cgC>cgG		POTE ankyrin domain family, member M							8.0	16.0	15.0					14																	20020023		299	1094	1393	SO:0001819	synonymous_variant	641455							g.chr14:20020023G>C		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.198C>G	14.37:g.20020023G>C							p.R66R	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	249	-			66						Silent	SNP	ENST00000551509.1	37	c.198C>G	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		18	364	0	0	0	1	0	18	364				
HLA-B	3106	broad.mit.edu	37	6	31324613	31324613	+	Silent	SNP	C	C	T	rs137854673		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31324613C>T	ENST00000412585.2	-	2	223	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	65	Alpha-1.		A -> T (in dbSNP:rs1050529). {ECO:0000269|PubMed:21269460}.		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTCGGACTCGCGGCGTCGC	0.667									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(193-195)gcG>gcA		major histocompatibility complex, class I, B							38.0	35.0	36.0					6																	31324613		2149	4201	6350	SO:0001819	synonymous_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31324613C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.195G>A	6.37:g.31324613C>T							p.A65A	NM_005514.6	NP_005505.2					2	223	-								Q29764	Silent	SNP	ENST00000412585.2	37	c.195G>A	CCDS34394.1																																																																																				0.667	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		4	82	0	0	0	1	0	4	82				
FLII	2314	broad.mit.edu	37	17	18152027	18152027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:18152027G>A	ENST00000327031.4	-	18	2252	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	FLII_ENST00000545457.2_Missense_Mutation_p.A621V|FLII_ENST00000379450.4_Missense_Mutation_p.A590V|FLII_ENST00000579294.1_Missense_Mutation_p.A665V|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	676	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AATTTTCTCTGCAAAGAGCCT	0.557											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2026-2028)gCa>gTa		flightless I homolog (Drosophila)							273.0	296.0	288.0					17																	18152027		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18152027G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2027C>T	17.37:g.18152027G>A	ENSP00000324573:p.Ala676Val		OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723	FLII_ENST00000545457.2_Missense_Mutation_p.A621V|FLII_ENST00000579294.1_Missense_Mutation_p.A665V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.A590V	p.A676V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			18	2252	-	all_neural(463;0.228)		676			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2027C>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909557	0.97093	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.61040	0.14;0.14	5.54	5.54	0.83059	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78848	0.4348	M	0.80332	2.49	0.80722	D	1	D;D;P;D;D	0.76494	0.996;0.996;0.729;0.991;0.999	D;D;B;D;D	0.83275	0.916;0.916;0.413;0.913;0.996	T	0.80723	-0.1255	10	0.66056	D	0.02	-7.9382	19.4761	0.94989	0.0:0.0:1.0:0.0	.	590;590;676;676;645	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	V	676;676;590	ENSP00000324573:A676V;ENSP00000368763:A590V	ENSP00000324573:A676V	A	-	2	0	FLII	18092752	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.567000	0.98161	2.618000	0.88619	0.462000	0.41574	GCA		0.557	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		22	406	0	0	0	1	0	22	406				
PCDHB15	56121	broad.mit.edu	37	5	140626044	140626044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140626044G>A	ENST00000231173.3	+	1	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E300*(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCAGGAGAAATTCGACT	0.398																																						ENST00000231173.3																			1	Substitution - Nonsense(1)	p.E300*(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(898-900)Gaa>Aaa									68.0	72.0	70.0					5																	140626044		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626044G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.898G>A	5.37:g.140626044G>A	ENSP00000231173:p.Glu300Lys						p.E300K	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	898	+			300			Cadherin 3.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.898G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158828	0.57368	.	.	ENSG00000113248	ENST00000231173	T	0.53206	0.63	4.8	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60958	0.2309	M	0.78637	2.42	0.33773	D	0.623301	P	0.45986	0.87	P	0.55508	0.777	T	0.72207	-0.4360	9	0.66056	D	0.02	.	8.2825	0.31908	0.251:0.0:0.749:0.0	.	300	Q9Y5E8	PCDBF_HUMAN	K	300	ENSP00000231173:E300K	ENSP00000231173:E300K	E	+	1	0	PCDHB15	140606228	0.989000	0.36119	1.000000	0.80357	0.805000	0.45488	2.269000	0.43346	1.139000	0.42245	0.491000	0.48974	GAA		0.398	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		33	41	0	0	0	1	0	33	41				
CATSPERG	57828	broad.mit.edu	37	19	38861368	38861368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38861368G>A	ENST00000409235.3	+	29	3531	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1099N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1139					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCATGTTCAGCTCCAGGATG	0.557																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3415-3417)aGc>aAc		catsper channel auxiliary subunit gamma							115.0	110.0	112.0					19																	38861368		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861368G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3416G>A	19.37:g.38861368G>A	ENSP00000386962:p.Ser1139Asn					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1099N	p.S1139N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			29	3531	+			1139					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3416G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637193	0.47049	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.24908	1.83;1.83	4.25	-6.61	0.01818	.	1.346480	0.05091	N	0.485237	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.31420	-0.9944	10	0.46703	T	0.11	-0.0948	3.3021	0.06987	0.0936:0.4215:0.166:0.3189	.	1139;1099	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	1099;1139;1139	ENSP00000387057:S1099N;ENSP00000386962:S1139N	ENSP00000386962:S1139N	S	+	2	0	CATSPERG	43553208	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-3.571000	0.00427	-0.914000	0.03827	-0.350000	0.07774	AGC		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		27	90	0	0	0	1	0	27	90				
PTK7	5754	broad.mit.edu	37	6	43111249	43111249	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43111249C>G	ENST00000230419.4	+	14	2363	c.2142C>G	c.(2140-2142)gcC>gcG	p.A714A	PTK7_ENST00000349241.2_Silent_p.A584A|PTK7_ENST00000352931.2_Silent_p.A658A|PTK7_ENST00000481273.1_Silent_p.A722A|PTK7_ENST00000345201.2_Silent_p.A674A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	714					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGCTGTGGCCTACATCATTG	0.617											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2140-2142)gcC>gcG		protein tyrosine kinase 7							77.0	74.0	75.0					6																	43111249		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111249C>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2142C>G	6.37:g.43111249C>G			OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000481273.1_Silent_p.A722A|PTK7_ENST00000352931.2_Silent_p.A658A|PTK7_ENST00000349241.2_Silent_p.A584A|PTK7_ENST00000345201.2_Silent_p.A674A	p.A714A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2363	+			714					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2142C>G	CCDS4884.1																																																																																				0.617	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			4	78	0	0	0	1	0	4	78				
NFE2L3	9603	broad.mit.edu	37	7	26224715	26224715	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:26224715G>A	ENST00000056233.3	+	4	1656	c.1397G>A	c.(1396-1398)gGt>gAt	p.G466D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	466					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTGCTGTAGGTGGCTACTAC	0.413																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1396-1398)gGt>gAt		nuclear factor, erythroid 2-like 3							174.0	171.0	172.0					7																	26224715		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224715G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1397G>A	7.37:g.26224715G>A	ENSP00000056233:p.Gly466Asp						p.G466D	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1656	+			466					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1397G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719338	0.30503	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.35605	1.3	4.88	4.88	0.63580	.	0.206471	0.40469	N	0.001085	T	0.65069	0.2656	M	0.85373	2.75	0.24137	N	0.995749	D	0.89917	1.0	D	0.71870	0.975	T	0.62253	-0.6893	10	0.72032	D	0.01	-22.0762	18.4084	0.90542	0.0:0.0:1.0:0.0	.	466	Q9Y4A8	NF2L3_HUMAN	D	466;172	ENSP00000056233:G466D	ENSP00000056233:G466D	G	+	2	0	NFE2L3	26191240	1.000000	0.71417	0.953000	0.39169	0.053000	0.15095	3.663000	0.54518	2.439000	0.82584	0.591000	0.81541	GGT		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			19	135	0	0	0	1	0	19	135				
KCNB1	3745	broad.mit.edu	37	20	47990324	47990324	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:47990324G>A	ENST00000371741.4	-	2	1939	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	591					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)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CACAGCTAATGAAACTATCAA	0.547																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1771-1773)ttC>ttT		potassium voltage-gated channel, Shab-related subfamily, member 1							66.0	57.0	60.0					20																	47990324		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990324G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1773C>T	20.37:g.47990324G>A							p.F591F	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1939	-			591					Q14193	Silent	SNP	ENST00000371741.4	37	c.1773C>T	CCDS13418.1																																																																																				0.547	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		10	66	0	0	0	1	0	10	66				
FOXG1	2290	broad.mit.edu	37	14	29237007	29237007	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:29237007G>A	ENST00000313071.4	+	1	721	c.522G>A	c.(520-522)aaG>aaA	p.K174K	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Silent_p.K174K|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	174	Gly-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agggcgagaagaagAACGGCA	0.682																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(520-522)aaG>aaA		forkhead box G1							27.0	29.0	29.0					14																	29237007		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237007G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.522G>A	14.37:g.29237007G>A						FOXG1_ENST00000313071.4_Silent_p.K174K	p.K174K			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	891	+			174			Gly-rich.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.522G>A	CCDS9636.1																																																																																				0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			5	25	0	0	0	1	0	5	25				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	8	1	0	0.150653	1	0.151154	4	8				
PLEKHM3	389072	broad.mit.edu	37	2	208795753	208795753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:208795753C>T	ENST00000427836.2	-	5	2272	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A595T|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A595T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	595					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCGGCTCTGCGTGGTGGTAC	0.627																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1783-1785)Gca>Aca		pleckstrin homology domain containing, family M, member 3							67.0	73.0	71.0					2																	208795753		2016	4181	6197	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208795753C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1783G>A	2.37:g.208795753C>T	ENSP00000417003:p.Ala595Thr					PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A595T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A595T	p.A595T			Q6ZWE6	PKHM3_HUMAN			5	2210	-			595					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1783G>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.711774|2.711774	0.48517|0.48517	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	D;D;D|.	0.83250|.	-1.69;-1.7;-1.7|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.172701|.	0.51477|.	D|.	0.000085|.	T|T	0.72676|0.72676	0.3490|0.3490	L|L	0.56199|0.56199	1.76|1.76	0.42971|0.42971	D|D	0.994435|0.994435	P;P|.	0.44690|.	0.841;0.636|.	B;B|.	0.34779|.	0.189;0.129|.	T|T	0.68507|0.68507	-0.5390|-0.5390	10|5	0.56958|.	D|.	0.05|.	-4.4975|-4.4975	20.0292|20.0292	0.97532|0.97532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	595;595|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	T|H	595|346	ENSP00000417003:A595T;ENSP00000373899:A595T;ENSP00000400150:A595T|.	ENSP00000373899:A595T|.	A|R	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208503998|208503998	0.997000|0.997000	0.39634|0.39634	0.973000|0.973000	0.42090|0.42090	0.029000|0.029000	0.11900|0.11900	5.959000|5.959000	0.70339|0.70339	2.740000|2.740000	0.93945|0.93945	0.460000|0.460000	0.39030|0.39030	GCA|CGC		0.627	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		39	95	0	0	0	1	0	39	95				
PRMT8	56341	broad.mit.edu	37	12	3659138	3659138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:3659138C>T	ENST00000382622.3	+	3	688	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PRMT8_ENST00000452611.2_Missense_Mutation_p.R91W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	100	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCACTTACCGGAACTCCAT	0.507																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(298-300)Cgg>Tgg		protein arginine methyltransferase 8							241.0	206.0	218.0					12																	3659138		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3659138C>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.298C>T	12.37:g.3659138C>T	ENSP00000372067:p.Arg100Trp					PRMT8_ENST00000452611.2_Missense_Mutation_p.R91W|PRMT8_ENST00000261252.4_3'UTR	p.R100W	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		3	688	+			100					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.298C>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986611	0.35036	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.24151	1.87;1.87	5.56	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.983;0.996	T	0.65948	-0.6044	10	0.87932	D	0	.	13.9358	0.64023	0.3947:0.6053:0.0:0.0	.	91;100	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	W	91;100	ENSP00000414507:R91W;ENSP00000372067:R100W	ENSP00000372067:R100W	R	+	1	2	PRMT8	3529399	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	0.941000	0.29005	0.673000	0.31224	-0.311000	0.09066	CGG		0.507	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		18	176	0	0	0	1	0	18	176				
CHST5	23563	broad.mit.edu	37	16	75563610	75563610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:75563610C>A	ENST00000336257.3	-	3	2067	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D231Y	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	225					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D225Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCGCGGGTCGCGCACCAGG	0.701																																						ENST00000336257.3																			1	Substitution - Missense(1)	p.D225Y(1)	lung(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(673-675)Gac>Tac		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							31.0	37.0	35.0					16																	75563610		2194	4295	6489	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563610C>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.673G>T	16.37:g.75563610C>A	ENSP00000338783:p.Asp225Tyr					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D231Y	p.D225Y	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2067	-			225					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.673G>T	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723754	0.48728	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.87029	-2.2;-2.2	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.051232	0.85682	D	0.000000	D	0.94019	0.8084	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94905	0.8060	10	0.87932	D	0	.	12.6629	0.56824	0.0:1.0:0.0:0.0	.	231;225	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	Y	225;231	ENSP00000338783:D225Y;ENSP00000441220:D231Y	ENSP00000338783:D225Y	D	-	1	0	CHST5	74121111	1.000000	0.71417	0.992000	0.48379	0.210000	0.24377	7.308000	0.78929	1.583000	0.49898	0.313000	0.20887	GAC		0.701	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		21	88	1	0	1.50039e-11	1	1.64173e-11	21	88				
BBS1	582	broad.mit.edu	37	11	66288795	66288795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66288795G>C	ENST00000318312.7	+	9	829	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	BBS1_ENST00000455748.2_Missense_Mutation_p.E163Q|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E297Q|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Missense_Mutation_p.E148Q	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	260					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTTTGATGTTGAGTTCCGGCT	0.552									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(889-891)Gag>Cag									107.0	94.0	99.0					11																	66288795		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66288795G>C	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.778G>C	11.37:g.66288795G>C	ENSP00000317469:p.Glu260Gln					BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.E163Q|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.E260Q|BBS1_ENST00000537537.1_Missense_Mutation_p.E148Q|BBS1_ENST00000393994.2_Intron	p.E297Q							9	967	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.889G>C	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453213	0.96223	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000537537;ENST00000525809;ENST00000455748	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	D	0.94948	0.8366	M	0.80183	2.485	0.80722	D	1	P;D;P;D	0.55385	0.949;0.971;0.881;0.971	P;P;P;P	0.54889	0.677;0.763;0.661;0.763	D	0.94564	0.7765	9	0.48119	T	0.1	.	17.3713	0.87379	0.0:0.0:1.0:0.0	.	163;148;260;297	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	Q	297;260;148;169;163	ENSP00000398526:E297Q;ENSP00000317469:E260Q;ENSP00000439873:E148Q;ENSP00000431187:E169Q;ENSP00000405764:E163Q	ENSP00000317469:E260Q	E	+	1	0	BBS1;CTD-3074O7.11	66045371	1.000000	0.71417	0.925000	0.36789	0.884000	0.51177	8.603000	0.90871	2.703000	0.92315	0.650000	0.86243	GAG		0.552	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			10	99	0	0	0	1	0	10	99				
VWA3A	146177	broad.mit.edu	37	16	22159581	22159581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:22159581G>A	ENST00000389398.5	+	28	3034	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	VWA3A_ENST00000563755.1_Missense_Mutation_p.E82K|VWA3A_ENST00000389397.4_Missense_Mutation_p.E82K	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	980	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTGAAGACAGAGCTGGTTTT	0.572																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(244-246)Gag>Aag		von Willebrand factor A domain containing 3A							66.0	66.0	66.0					16																	22159581		1970	4165	6135	SO:0001583	missense	146177					extracellular region		g.chr16:22159581G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2938G>A	16.37:g.22159581G>A	ENSP00000374049:p.Glu980Lys					VWA3A_ENST00000389398.5_Missense_Mutation_p.E980K|VWA3A_ENST00000563755.1_Missense_Mutation_p.E82K	p.E82K			A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3106	+			980					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.244G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643732	0.67244	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	D;D	0.87256	-2.23;-2.23	5.1	5.1	0.69264	von Willebrand factor, type A (3);	0.300232	0.31233	N	0.008010	D	0.89622	0.6768	L	0.33093	0.98	0.36826	D	0.886639	D;D	0.76494	0.989;0.999	D;D	0.71414	0.953;0.973	D	0.91613	0.5304	10	0.52906	T	0.07	.	16.4323	0.83853	0.0:0.0:1.0:0.0	.	980;82	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	K	980;82;603	ENSP00000374049:E980K;ENSP00000374048:E82K	ENSP00000299840:E603K	E	+	1	0	VWA3A	22067082	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.542000	0.67218	2.539000	0.85634	0.650000	0.86243	GAG		0.572	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			4	9	0	0	0	1	0	4	9				
CAPN3	825	broad.mit.edu	37	15	42678429	42678429	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:42678429C>T	ENST00000397163.3	+	3	663	c.444C>T	c.(442-444)gtC>gtT	p.V148V	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.V148V|CAPN3_ENST00000356316.3_Silent_p.V61V|CAPN3_ENST00000349748.3_Silent_p.V148V|CAPN3_ENST00000318023.7_Silent_p.V148V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	148	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTTTCCGAGTCATACCCCATG	0.552											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(442-444)gtC>gtT		calpain 3, (p94)							127.0	104.0	112.0					15																	42678429		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42678429C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.444C>T	15.37:g.42678429C>T			OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	910	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.V148V|CAPN3_ENST00000318023.7_Silent_p.V148V|CAPN3_ENST00000357568.3_Silent_p.V148V|CAPN3_ENST00000356316.3_Silent_p.V61V	p.V148V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	3	663	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	148			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.444C>T	CCDS45245.1																																																																																				0.552	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			34	72	0	0	0	1	0	34	72				
PIWIL3	440822	broad.mit.edu	37	22	25150024	25150024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:25150024C>T	ENST00000332271.5	-	8	1350	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PIWIL3_ENST00000527701.1_Missense_Mutation_p.E203K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.E203K|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	312	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTTACTTCCTCTCGGATGTTT	0.428																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(934-936)Gag>Aag		piwi-like RNA-mediated gene silencing 3							115.0	118.0	117.0					22																	25150024		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150024C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.934G>A	22.37:g.25150024C>T	ENSP00000330031:p.Glu312Lys					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E203K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.E203K	p.E312K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			8	1350	-			312			PAZ.			Missense_Mutation	SNP	ENST00000332271.5	37	c.934G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929333	0.34096	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13420	2.59;2.59;2.59	1.97	-2.01	0.07410	Argonaute/Dicer protein, PAZ (3);	0.519486	0.19592	N	0.110596	T	0.14917	0.0360	L	0.46670	1.46	0.09310	N	1	B;B;B	0.32365	0.119;0.013;0.367	B;B;P	0.49085	0.284;0.053;0.6	T	0.40098	-0.9581	10	0.12766	T	0.61	1.6679	3.6604	0.08237	0.0:0.468:0.2048:0.3272	.	203;312;312	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	K	312;203;203	ENSP00000330031:E312K;ENSP00000431843:E203K;ENSP00000435718:E203K	ENSP00000330031:E312K	E	-	1	0	PIWIL3	23480024	0.130000	0.22417	0.000000	0.03702	0.005000	0.04900	0.942000	0.29017	-0.424000	0.07382	-0.379000	0.06801	GAG		0.428	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		7	68	0	0	0	1	0	7	68				
ZNF319	57567	broad.mit.edu	37	16	58031086	58031086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031086G>A	ENST00000299237.2	-	2	1706	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGTGTGCGCCGGTGGCGCATC	0.642																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1084-1086)Cgg>Tgg		zinc finger protein 319							85.0	78.0	80.0					16																	58031086		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031086G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1084C>T	16.37:g.58031086G>A	ENSP00000299237:p.Arg362Trp						p.R362W	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1706	-			362					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1084C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311480	0.23821	.	.	ENSG00000166188	ENST00000299237	T	0.18810	2.19	5.21	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.74258	2.255	0.50467	D	0.999876	D	0.89917	1.0	D	0.75020	0.985	T	0.35301	-0.9794	10	0.87932	D	0	-29.3966	9.2627	0.37623	0.0:0.1414:0.5667:0.2919	.	362	Q9P2F9	ZN319_HUMAN	W	362	ENSP00000299237:R362W	ENSP00000299237:R362W	R	-	1	2	ZNF319	56588587	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	3.325000	0.52030	1.170000	0.42753	-0.175000	0.13238	CGG		0.642	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			29	48	0	0	0	1	0	29	48				
SYT15	83849	broad.mit.edu	37	10	46962030	46962030	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962030G>A	ENST00000374321.4	-	8	1272	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Silent_p.L455L|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374325.3_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	402						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGGCTTGCTGAGCATCTCGT	0.682																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1363-1365)ctC>ctT		synaptotagmin XV							49.0	61.0	57.0					10																	46962030		2111	4231	6342	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46962030G>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1206C>T	10.37:g.46962030G>A						SYT15_ENST00000374321.4_Silent_p.L402L|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA	p.L455L			Q9BQS2	SYT15_HUMAN			7	1952	-			402					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1365C>T	CCDS44376.1																																																																																				0.682	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		17	98	0	0	0	1	0	17	98				
MCM8	84515	broad.mit.edu	37	20	5966622	5966622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5966622A>G	ENST00000378896.3	+	16	2385	c.2008A>G	c.(2008-2010)Att>Gtt	p.I670V	MCM8_ENST00000378886.2_Missense_Mutation_p.I710V|MCM8_ENST00000265187.4_Missense_Mutation_p.I654V|MCM8_ENST00000378883.1_Missense_Mutation_p.I623V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	670					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAGAAAGTACATTGGCTATGC	0.453																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2008-2010)Att>Gtt		minichromosome maintenance complex component 8							131.0	118.0	123.0					20																	5966622		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966622A>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2008A>G	20.37:g.5966622A>G	ENSP00000368174:p.Ile670Val					MCM8_ENST00000265187.4_Missense_Mutation_p.I654V|MCM8_ENST00000378883.1_Missense_Mutation_p.I623V|MCM8_ENST00000378886.2_Missense_Mutation_p.I710V	p.I670V	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			16	2385	+			670					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2008A>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716054	0.30413	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.33	-0.0498	0.13833	.	0.234217	0.43416	N	0.000563	T	0.06280	0.0162	L	0.27944	0.81	0.37679	D	0.923424	B;B;B;B	0.21753	0.02;0.06;0.01;0.007	B;B;B;B	0.29077	0.036;0.098;0.036;0.061	T	0.31668	-0.9935	10	0.39692	T	0.17	-7.3431	9.3874	0.38352	0.3285:0.0:0.6715:0.0	.	623;710;654;670	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	V	670;623;710;654	ENSP00000368174:I670V;ENSP00000368161:I623V;ENSP00000368164:I710V;ENSP00000265187:I654V	ENSP00000265187:I654V	I	+	1	0	MCM8	5914622	0.993000	0.37304	0.998000	0.56505	0.992000	0.81027	2.012000	0.40932	0.089000	0.17243	0.533000	0.62120	ATT		0.453	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		22	83	0	0	0	1	0	22	83				
CCDC18	343099	broad.mit.edu	37	1	93683346	93683346	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:93683346G>C	ENST00000343253.7	+	14	2381	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	CCDC18_ENST00000401026.3_Missense_Mutation_p.E628Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E746Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	627										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TACAGAGCATGAGAAAATTTG	0.303																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1879-1881)Gag>Cag		coiled-coil domain containing 18							57.0	57.0	57.0					1																	93683346		1814	4073	5887	SO:0001583	missense	343099							g.chr1:93683346G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1879G>C	1.37:g.93683346G>C	ENSP00000343377:p.Glu627Gln					CCDC18_ENST00000557479.1_Missense_Mutation_p.E746Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E628Q|CCDC18_ENST00000338949.4_Intron	p.E627Q			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	14	2381	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	627					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1879G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.375031|3.375031	0.61735|0.61735	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.169995|.	0.52532|.	D|.	0.000073|.	T|T	0.48259|0.48259	0.1490|0.1490	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.58780|.	0.845|.	T|T	0.44390|0.44390	-0.9331|-0.9331	10|5	0.28530|.	T|.	0.3|.	.|.	13.0156|13.0156	0.58754|0.58754	0.0811:0.0:0.9189:0.0|0.0811:0.0:0.9189:0.0	.|.	746|.	G3V388|.	.|.	Q|I	627;628;746|680	ENSP00000343377:E627Q;ENSP00000383808:E628Q;ENSP00000451099:E746Q|.	ENSP00000343377:E627Q|.	E|M	+|+	1|3	0|0	CCDC18|CCDC18	93455934|93455934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.115000|4.115000	0.57865|0.57865	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.303	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		11	25	0	0	0	1	0	11	25				
PACS1	55690	broad.mit.edu	37	11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C	rs369233658	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				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						ccgccgccgcagcagcagcag	0.796													A|||	11	0.00219649	0.0015	0.0014	5008	,	,		5485	0.005		0.002	False		,,,				2504	0.001					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.(103-105)cAg>cCg		phosphofurin acidic cluster sorting protein 1							2.0	3.0	3.0					11																	65838061		1347	2972	4319	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838061A>C	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.104A>C	11.37:g.65838061A>C	ENSP00000316454:p.Gln35Pro						p.Q35P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	137	+			35			Gly-rich.|Poly-Gln.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.104A>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.981563	0.00448	.	.	ENSG00000175115	ENST00000320580	T	0.25414	1.8	.	.	.	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.20821	N	0.999845	.	.	.	.	.	.	T	0.19910	-1.0291	5	0.52906	T	0.07	.	.	.	.	.	35;35	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	P	35	ENSP00000316454:Q35P	ENSP00000316454:Q35P	Q	+	2	0	PACS1	65594637	0.213000	0.23551	0.029000	0.17559	0.156000	0.22039	0.616000	0.24344	-1.624000	0.01556	-1.675000	0.00742	CAG		0.796	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		3	8	0	0	0	1	0	3	8				
ARSK	153642	broad.mit.edu	37	5	94927134	94927134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:94927134G>C	ENST00000380009.4	+	6	1106	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	301					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCATCAATTAGATCTTCTTCA	0.343																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(901-903)Gat>Cat		arylsulfatase family, member K							116.0	121.0	119.0					5																	94927134		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927134G>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.901G>C	5.37:g.94927134G>C	ENSP00000369346:p.Asp301His						p.D301H	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1106	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	301					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.901G>C	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725430	0.30593	.	.	ENSG00000164291	ENST00000380009	D	0.99901	-7.64	5.95	2.77	0.32553	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.714211	0.14041	N	0.345396	D	0.99324	0.9763	L	0.38838	1.175	0.09310	N	1	B	0.12013	0.005	B	0.17098	0.017	D	0.99992	1.4578	10	0.87932	D	0	-8.0224	12.0169	0.53319	0.2674:0.0:0.7326:0.0	.	301	Q6UWY0	ARSK_HUMAN	H	301	ENSP00000369346:D301H	ENSP00000369346:D301H	D	+	1	0	ARSK	94952890	0.991000	0.36638	0.391000	0.26233	0.933000	0.57130	2.453000	0.44970	0.837000	0.34925	0.655000	0.94253	GAT		0.343	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		23	54	0	0	0	1	0	23	54				
TWSG1	57045	broad.mit.edu	37	18	9396466	9396466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396466G>T	ENST00000262120.5	+	4	603	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	TWSG1_ENST00000581641.1_Nonsense_Mutation_p.E138*	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	138					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTCATTTTTAGAAACTGTGAA	0.443																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(412-414)Gaa>Taa		twisted gastrulation BMP signaling modulator 1							85.0	82.0	83.0					18																	9396466		2203	4300	6503	SO:0001587	stop_gained	57045							g.chr18:9396466G>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.412G>T	18.37:g.9396466G>T	ENSP00000262120:p.Glu138*					TWSG1_ENST00000581641.1_Nonsense_Mutation_p.E138*	p.E138*	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			4	603	+			138					B2RE08|D3DUH9|Q8NBI7|Q96K46	Nonsense_Mutation	SNP	ENST00000262120.5	37	c.412G>T	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161332	0.97338	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-26.8791	17.994	0.89177	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000262120:E138X	E	+	1	0	TWSG1	9386466	1.000000	0.71417	0.888000	0.34837	0.992000	0.81027	9.644000	0.98468	2.506000	0.84524	0.561000	0.74099	GAA		0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			24	49	1	0	2.89027e-11	1	3.15112e-11	24	49				
PABPN1	8106	broad.mit.edu	37	14	23792593	23792593	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:23792593A>G	ENST00000216727.4	+	4	723	c.542A>G	c.(541-543)tAt>tGt	p.Y181C	PABPN1_ENST00000556821.1_Missense_Mutation_p.Y53C|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000557702.1_Missense_Mutation_p.Y53C|PABPN1_ENST00000397276.2_Missense_Mutation_p.Y181C|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.Y208C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.Y208C	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	181	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGGACTATGGTGCAACA	0.493																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(541-543)tAt>tGt		poly(A) binding protein, nuclear 1							84.0	82.0	82.0					14																	23792593		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23792593A>G	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.542A>G	14.37:g.23792593A>G	ENSP00000216727:p.Tyr181Cys					PABPN1_ENST00000557702.1_Missense_Mutation_p.Y53C|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000216727.4_Missense_Mutation_p.Y181C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000556821.1_Missense_Mutation_p.Y53C	p.Y181C						GBM - Glioblastoma multiforme(265;0.00643)	4	555	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.542A>G	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243484	0.79912	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	4.73	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.992	D;P;D	0.91635	0.999;0.892;0.921	T	0.68511	-0.5389	10	0.87932	D	0	-3.716	13.4974	0.61434	1.0:0.0:0.0:0.0	.	181;181;208	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	C	208;208;181;181;53;53	ENSP00000451320:Y208C;ENSP00000452479:Y208C;ENSP00000216727:Y181C;ENSP00000380446:Y181C;ENSP00000451970:Y53C;ENSP00000450724:Y53C	ENSP00000216727:Y181C	Y	+	2	0	PABPN1;RP11-124D2.2	22862433	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.534000	0.90620	1.887000	0.54652	0.459000	0.35465	TAT		0.493	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		12	34	0	0	0	1	0	12	34				
SPTA1	6708	broad.mit.edu	37	1	158639535	158639535	+	Silent	SNP	A	A	G	rs35932551		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:158639535A>G	ENST00000368147.4	-	13	1821	c.1641T>C	c.(1639-1641)caT>caC	p.H547H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	547					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGAATCATAATGGTCATCAC	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1639-1641)caT>caC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		A		0,3804		0,0,1902	234.0	216.0	222.0		1641	1.2	1.0	1	dbSNP_126	222	1,8229		0,1,4114	no	coding-synonymous	SPTA1	NM_003126.2		0,1,6016	GG,GA,AA		0.0122,0.0,0.0083		547/2420	158639535	1,12033	1902	4115	6017	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639535A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1641T>C	1.37:g.158639535A>G						SPTA1_ENST00000368147.3_Silent_p.H547H	p.H547H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1821	-	all_hematologic(112;0.0378)		547					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1641T>C	CCDS41423.1																																																																																				0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		18	168	0	0	0	1	0	18	168				
FZR1	51343	broad.mit.edu	37	19	3526992	3526992	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:3526992C>T	ENST00000395095.3	+	5	402	c.402C>T	c.(400-402)acC>acT	p.T134T	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Silent_p.T134T	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	134					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTTAGCACCAAGCGCTCCA	0.662																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(400-402)acC>acT		fizzy/cell division cycle 20 related 1 (Drosophila)							183.0	127.0	146.0					19																	3526992		2201	4297	6498	SO:0001819	synonymous_variant	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3526992C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.402C>T	19.37:g.3526992C>T						FZR1_ENST00000395095.3_Silent_p.T134T|FZR1_ENST00000313639.8_Intron	p.T134T	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	6	638	+			134					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	c.402C>T	CCDS45916.1																																																																																				0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		24	86	0	0	0	1	0	24	86				
MTMR11	10903	broad.mit.edu	37	1	149907004	149907004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149907004C>A	ENST00000439741.2	-	5	593	c.343G>T	c.(343-345)Gtc>Ttc	p.V115F	MTMR11_ENST00000406732.3_Missense_Mutation_p.V87F|MTMR11_ENST00000369140.3_Missense_Mutation_p.V43F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.V115F	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	115							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGCTGGACTCGGGACAAG	0.547																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(343-345)Gtc>Ttc		myotubularin related protein 11							58.0	64.0	62.0					1																	149907004		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149907004C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.343G>T	1.37:g.149907004C>A	ENSP00000391668:p.Val115Phe					MTMR11_ENST00000369140.3_Missense_Mutation_p.V43F|MTMR11_ENST00000361405.6_Missense_Mutation_p.V115F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.V87F	p.V115F	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	593	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		115					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.343G>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179508	0.38511	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732	D;D;T;D	0.96365	-3.51;-3.52;0.9;-3.99	5.15	3.21	0.36854	.	0.475483	0.22644	N	0.057404	D	0.88507	0.6455	L	0.51422	1.61	0.30221	N	0.796848	P;P;B	0.36909	0.573;0.573;0.437	B;B;B	0.36766	0.165;0.232;0.073	T	0.82641	-0.0357	9	.	.	.	.	4.9467	0.13993	0.0:0.6212:0.1881:0.1907	.	87;43;115	A4FU01-6;A4FU01-4;A4FU01	.;.;MTMRB_HUMAN	F	43;115;115;87	ENSP00000358136:V43F;ENSP00000391668:V115F;ENSP00000354941:V115F;ENSP00000383948:V87F	.	V	-	1	0	MTMR11	148173628	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.202000	0.32271	1.412000	0.46977	0.650000	0.86243	GTC		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		31	56	1	0	4.11147e-13	1	4.56495e-13	31	56				
SLC24A3	57419	broad.mit.edu	37	20	19698188	19698188	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:19698188G>A	ENST00000328041.6	+	16	1933	c.1736G>A	c.(1735-1737)aGg>aAg	p.R579K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	579					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R579M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAATAGCAGGGGGCTGATC	0.522																																						ENST00000328041.6																			1	Substitution - Missense(1)	p.R579M(1)	urinary_tract(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1735-1737)aGg>aAg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							305.0	303.0	304.0					20																	19698188		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19698188G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1736G>A	20.37:g.19698188G>A	ENSP00000333519:p.Arg579Lys						p.R579K	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			16	1933	+			579					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1736G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349840	0.41599	.	.	ENSG00000185052	ENST00000328041	T	0.62364	0.03	4.61	3.65	0.41850	Sodium/calcium exchanger membrane region (1);	0.133263	0.64402	N	0.000002	T	0.38480	0.1042	N	0.04705	-0.18	0.50813	D	0.999895	B	0.19073	0.033	B	0.21546	0.035	T	0.11494	-1.0585	9	.	.	.	.	12.3227	0.54993	0.0846:0.0:0.9154:0.0	.	579	Q9HC58	NCKX3_HUMAN	K	579	ENSP00000333519:R579K	.	R	+	2	0	SLC24A3	19646188	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.487000	0.66863	0.932000	0.37266	0.460000	0.39030	AGG		0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		13	422	0	0	0	1	0	13	422				
LOC653712	653712	broad.mit.edu	37	3	128580634	128580634	+	RNA	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:128580634G>C	ENST00000498297.1	-	0	819				RP11-723O4.9_ENST00000567253.1_lincRNA|RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						CATTGTAGCCGACCACAAAGC	0.567																																						ENST00000498297.1																			0																																																			653712							g.chr3:128580634G>C																													3.37:g.128580634G>C						RP11-723O4.2_ENST00000480931.1_RNA		NR_034179.1						0	819	-									RNA	SNP	ENST00000498297.1	37																																																																																						0.567	RP11-723O4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000357491.1			13	17	0	0	0	1	0	13	17				
MUC5B	727897	broad.mit.edu	37	11	1272899	1272899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:1272899G>A	ENST00000529681.1	+	31	14847	c.14789G>A	c.(14788-14790)aGa>aAa	p.R4930K	MUC5B_ENST00000447027.1_Missense_Mutation_p.R4933K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4930	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCCTGAGACCCACTGGC	0.612																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14797-14799)aGa>aAa		mucin 5B, oligomeric mucus/gel-forming							59.0	66.0	64.0					11																	1272899		2144	4250	6394	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272899G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14789G>A	11.37:g.1272899G>A	ENSP00000436812:p.Arg4930Lys					MUC5B_ENST00000529681.1_Missense_Mutation_p.R4930K	p.R4933K			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14856	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4930					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14798G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271371	0.10349	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.55	2.49	-0.824	0.10812	.	.	.	.	.	T	0.09158	0.0226	N	0.24115	0.695	0.09310	N	1	B;B	0.25486	0.067;0.127	B;B	0.17979	0.011;0.02	T	0.31223	-0.9951	9	0.87932	D	0	.	2.7377	0.05245	0.1102:0.331:0.3906:0.1683	.	5252;4933	A7Y9J9;E9PBJ0	.;.	K	4930;4933;4874;4629	ENSP00000436812:R4930K;ENSP00000415793:R4933K	ENSP00000343037:R4874K	R	+	2	0	MUC5B	1229475	0.021000	0.18746	0.000000	0.03702	0.016000	0.09150	0.923000	0.28757	-0.156000	0.11079	-1.185000	0.01705	AGA		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	37	0	0	0	1	0	8	37				
EPDR1	54749	broad.mit.edu	37	7	37960738	37960738	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:37960738T>A	ENST00000199448.4	+	1	576	c.197T>A	c.(196-198)cTg>cAg	p.L66Q	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_Missense_Mutation_p.L66Q|EPDR1_ENST00000559325.1_Missense_Mutation_p.L186Q	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	66					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCCGCGCCCTGCTCTCCTAC	0.716																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(196-198)cTg>cAg		ependymin related 1							12.0	13.0	13.0					7																	37960738		2090	4119	6209	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960738T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.197T>A	7.37:g.37960738T>A	ENSP00000199448:p.Leu66Gln					EPDR1_ENST00000423717.1_Missense_Mutation_p.L66Q|EPDR1_ENST00000559325.1_Missense_Mutation_p.L186Q|EPDR1_ENST00000476620.1_Intron	p.L66Q	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			1	576	+			66					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.197T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	9.397	1.077042	0.20227	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	4.04	0.47022	.	0.685074	0.13863	N	0.357542	T	0.37265	0.0997	L	0.47716	1.5	0.80722	D	1	P	0.34699	0.464	B	0.28709	0.093	T	0.11421	-1.0588	9	0.13470	T	0.59	-18.3011	6.2153	0.20651	0.0:0.1136:0.0:0.8864	.	186	A4D1W8	.	Q	186;160	.	ENSP00000199448:L186Q	L	+	2	0	EPDR1	37927263	0.941000	0.31946	0.999000	0.59377	0.924000	0.55760	0.688000	0.25422	1.807000	0.52817	0.260000	0.18958	CTG		0.716	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		5	41	0	0	0	1	0	5	41				
NR2F2	7026	broad.mit.edu	37	15	96877373	96877373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:96877373C>G	ENST00000394166.3	+	2	1900	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A	NR2F2_ENST00000394171.2_Missense_Mutation_p.P18A|NR2F2_ENST00000453270.2_Missense_Mutation_p.P18A|NR2F2_ENST00000421109.2_Missense_Mutation_p.P38A|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	171	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAACGGGGATCCCCTCAACTG	0.642																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(511-513)Ccc>Gcc		nuclear receptor subfamily 2, group F, member 2							119.0	114.0	116.0					15																	96877373		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877373C>G	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.511C>G	15.37:g.96877373C>G	ENSP00000377721:p.Pro171Ala					NR2F2_ENST00000421109.2_Missense_Mutation_p.P38A|NR2F2_ENST00000453270.2_Missense_Mutation_p.P18A|NR2F2_ENST00000394171.2_Missense_Mutation_p.P18A	p.P171A	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	1900	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		171			Interaction with ZFPM2 (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.511C>G	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446466	0.63178	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.92699	0.55;0.55;-3.09;-3.09	5.0	5.0	0.66597	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	N	0.20401	0.57	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.001	T	0.81404	-0.0948	10	0.27785	T	0.31	.	18.2828	0.90103	0.0:1.0:0.0:0.0	.	171;38	P24468;Q3KQR7	COT2_HUMAN;.	A	38;171;18;18	ENSP00000401674:P38A;ENSP00000377721:P171A;ENSP00000377726:P18A;ENSP00000389853:P18A	ENSP00000377721:P171A	P	+	1	0	NR2F2	94678377	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.317000	0.78254	0.561000	0.74099	CCC		0.642	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			17	180	0	0	0	1	0	17	180				
FAM47C	442444	broad.mit.edu	37	X	37027331	37027331	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:37027331G>T	ENST00000358047.3	+	1	900	c.848G>T	c.(847-849)tGc>tTc	p.C283F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	283										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCTGCCCAGAGCCT	0.602																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(847-849)tGc>tTc		family with sequence similarity 47, member C							71.0	63.0	66.0					X																	37027331		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027331G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.848G>T	X.37:g.37027331G>T	ENSP00000367913:p.Cys283Phe						p.C283F	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	900	+			283					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.848G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	3.083	-0.188674	0.06299	.	.	ENSG00000198173	ENST00000358047	T	0.13307	2.6	0.15	0.15	0.14883	.	.	.	.	.	T	0.08935	0.0221	L	0.53249	1.67	0.09310	N	0.999996	B	0.28378	0.209	B	0.16722	0.016	T	0.38824	-0.9643	9	0.09590	T	0.72	.	2.6724	0.05071	0.4762:0.0:0.5238:0.0	.	283	Q5HY64	FA47C_HUMAN	F	283	ENSP00000367913:C283F	ENSP00000367913:C283F	C	+	2	0	FAM47C	36937252	0.001000	0.12720	0.012000	0.15200	0.012000	0.07955	-0.312000	0.08113	0.181000	0.19994	0.183000	0.17082	TGC		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		49	26	1	0	2.56175e-15	1	2.88674e-15	49	26				
ART1	417	broad.mit.edu	37	11	3681097	3681097	+	Silent	SNP	G	G	A	rs139321904	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:3681097G>A	ENST00000250693.1	+	3	449	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	116					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGCATGGGGTGGCCCTCCTGG	0.682													G|||	5	0.000998403	0.003	0.0014	5008	,	,		15928	0.0		0.0	False		,,,				2504	0.0					ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(346-348)gtG>gtA		ADP-ribosyltransferase 1	Becaplermin(DB00102)	G		14,4386	20.2+/-43.8	0,14,2186	26.0	28.0	28.0		348	4.6	1.0	11	dbSNP_134	28	0,8594		0,0,4297	no	coding-synonymous	ART1	NM_004314.2		0,14,6483	AA,AG,GG		0.0,0.3182,0.1077		116/328	3681097	14,12980	2200	4297	6497	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681097G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.348G>A	11.37:g.3681097G>A							p.V116V	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	449	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	116					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.348G>A	CCDS7744.1																																																																																				0.682	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		8	34	0	0	0	1	0	8	34				
ZNF548	147694	broad.mit.edu	37	19	57910422	57910422	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57910422G>C	ENST00000366197.5	+	3	1017	c.767G>C	c.(766-768)aGa>aCa	p.R256T	ZNF548_ENST00000336128.7_Missense_Mutation_p.R268T|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGAGTGCAGAGAATGTGGA	0.393																																						ENST00000366197.5																			0				breast(1)	1						c.(766-768)aGa>aCa		zinc finger protein 548							45.0	45.0	45.0					19																	57910422		2199	4296	6495	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910422G>C	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.767G>C	19.37:g.57910422G>C	ENSP00000379482:p.Arg256Thr					AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R268T|AC003002.6_ENST00000600421.1_Intron	p.R256T	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1017	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	256					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.767G>C	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	4.466	0.086385	0.08583	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.17370	2.28;2.28	2.86	0.704	0.18121	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	N	0.16016	0.355	0.09310	N	1	B;B	0.25850	0.112;0.136	B;B	0.27262	0.047;0.078	T	0.33033	-0.9884	9	0.44086	T	0.13	.	2.8261	0.05485	0.3692:0.2397:0.3911:0.0	.	268;256	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	T	268;256	ENSP00000337555:R268T;ENSP00000379482:R256T	ENSP00000337555:R268T	R	+	2	0	ZNF548	62602234	0.000000	0.05858	0.019000	0.16419	0.986000	0.74619	-3.389000	0.00488	0.559000	0.29153	0.655000	0.94253	AGA		0.393	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		3	40	0	0	0	1	0	3	40				
GOLGA7B	401647	broad.mit.edu	37	10	99619295	99619295	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:99619295C>T	ENST00000370602.1	+	2	158	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	31						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GCGATGGGACCATCTGTCAGT	0.577																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(91-93)acC>acT		golgin A7 family, member B							86.0	81.0	83.0					10																	99619295		2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99619295C>T	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.93C>T	10.37:g.99619295C>T							p.T31T	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			2	158	+			31					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.93C>T	CCDS31265.1																																																																																				0.577	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		13	55	0	0	0	1	0	13	55				
DZIP3	9666	broad.mit.edu	37	3	108396445	108396445	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:108396445G>A	ENST00000361582.3	+	26	3113	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	DZIP3_ENST00000463306.1_Splice_Site_p.L961L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	961					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTGAGATACTGGTAAGAAATA	0.398																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e26+1		DAZ interacting zinc finger protein 3							135.0	130.0	132.0					3																	108396445		2203	4300	6503	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108396445G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2883+1G>A	3.37:g.108396445G>A						DZIP3_ENST00000463306.1_Splice_Site_p.L961_splice	p.L961_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			26	3113	+			961					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37	c.2883_splice	CCDS2952.1																																																																																				0.398	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Silent	14	161	0	0	0	1	0	14	161				
ZNF747	65988	broad.mit.edu	37	16	30544429	30544429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30544429C>A	ENST00000252799.3	-	2	1194	c.527G>T	c.(526-528)cGg>cTg	p.R176L	ZNF747_ENST00000569360.1_Silent_p.T128T|ZNF747_ENST00000535210.1_Silent_p.T128T|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000568028.1_Silent_p.T128T|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175L	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CCAGGGCTCCCGTCCCTTCCC	0.607																																						ENST00000252799.3																			0				kidney(1)|lung(3)|prostate(1)	5						c.(526-528)cGg>cTg		zinc finger protein 747							81.0	82.0	81.0					16																	30544429		2197	4300	6497	SO:0001583	missense	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544429C>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.527G>T	16.37:g.30544429C>A	ENSP00000252799:p.Arg176Leu					ZNF747_ENST00000569360.1_Silent_p.T128T|ZNF747_ENST00000535210.1_Silent_p.T128T|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175L|ZNF747_ENST00000568028.1_Silent_p.T128T	p.R176L	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN			2	1194	-			176					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.527G>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	C	6.528	0.465658	0.12402	.	.	ENSG00000169955	ENST00000252799;ENST00000395094	T;T	0.02446	4.34;4.29	2.73	-5.46	0.02608	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44667	-0.9313	9	0.52906	T	0.07	.	0.8144	0.01099	0.3409:0.3026:0.1566:0.1999	.	175;176	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	L	176;175	ENSP00000252799:R176L;ENSP00000378528:R175L	ENSP00000252799:R176L	R	-	2	0	ZNF747	30451930	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.576000	0.00910	-3.417000	0.00167	-0.802000	0.03209	CGG		0.607	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		30	49	1	0	4.11147e-13	1	4.56495e-13	30	49				
RANBP17	64901	broad.mit.edu	37	5	170345790	170345790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:170345790G>A	ENST00000523189.1	+	10	1192	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	343					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATCAGCTGGGAGAATTAGTT	0.313			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1027-1029)gGa>gAa		RAN binding protein 17							125.0	125.0	125.0					5																	170345790		2202	4296	6498	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170345790G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1028G>A	5.37:g.170345790G>A	ENSP00000427975:p.Gly343Glu						p.G343E	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1192	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	343					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1028G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.958259	0.92726	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.47177	0.85	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.72061	0.3414	M	0.88241	2.94	0.58432	D	0.999996	D	0.71674	0.998	D	0.71414	0.973	T	0.69514	-0.5125	10	0.12103	T	0.63	-16.52	19.5114	0.95142	0.0:0.0:1.0:0.0	.	343	Q9H2T7	RBP17_HUMAN	E	343;239	ENSP00000427975:G343E	ENSP00000373770:G343E	G	+	2	0	RANBP17	170278395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	2.712000	0.92718	0.491000	0.48974	GGA		0.313	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	26	0	0	0	1	0	9	26				
MPP2	4355	broad.mit.edu	37	17	41955244	41955244	+	Silent	SNP	G	G	A	rs374802065		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:41955244G>A	ENST00000461854.1	-	14	1747	c.1662C>T	c.(1660-1662)cgC>cgT	p.R554R	MPP2_ENST00000523501.1_Silent_p.R519R|MPP2_ENST00000518766.1_Silent_p.R575R|MPP2_ENST00000269095.4_Silent_p.R530R|MPP2_ENST00000520305.1_Silent_p.R391R|MPP2_ENST00000377184.3_Silent_p.R547R|MPP2_ENST00000536246.1_Silent_p.R519R			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.			R -> C (in Ref. 3; BAG61302). {ECO:0000305}.	nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTGGAGCTCGCGGAAGGTCC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1588-1590)cgC>cgT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G		0,4406		0,0,2203	97.0	85.0	89.0		1590	-10.7	0.0	17		89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MPP2	NM_005374.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		530/553	41955244	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955244G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1662C>T	17.37:g.41955244G>A						MPP2_ENST00000518766.1_Silent_p.R575R|MPP2_ENST00000523501.1_Silent_p.R519R|MPP2_ENST00000536246.1_Silent_p.R519R|MPP2_ENST00000461854.1_Silent_p.R554R|MPP2_ENST00000377184.3_Silent_p.R547R|MPP2_ENST00000520305.1_Silent_p.R391R	p.R530R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1894	-		Breast(137;0.00314)	554			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.1590C>T																																																																																					0.602	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		20	81	0	0	0	1	0	20	81				
EXOSC2	23404	broad.mit.edu	37	9	133569283	133569283	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:133569283G>A	ENST00000372358.5	+	1	176	c.105G>A	c.(103-105)acG>acA	p.T35T	EXOSC2_ENST00000372351.3_Silent_p.T35T|EXOSC2_ENST00000372352.3_Silent_p.T35T|EXOSC2_ENST00000546165.1_Silent_p.T35T			Q13868	EXOS2_HUMAN	exosome component 2	35					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)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CAATCACTACGGACACAGGAT	0.592																																					Pancreas(134;1683 1824 10118 27928 31640)	ENST00000372358.5																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(103-105)acG>acA		exosome component 2							66.0	65.0	65.0					9																	133569283		2203	4300	6503	SO:0001819	synonymous_variant	23404				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding	g.chr9:133569283G>A	AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.105G>A	9.37:g.133569283G>A						EXOSC2_ENST00000372351.3_Silent_p.T35T|EXOSC2_ENST00000372352.3_Silent_p.T35T|EXOSC2_ENST00000546165.1_Silent_p.T35T	p.T35T			Q13868	EXOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000324)	1	176	+		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)	35					A3KFL3|B4DKK6|Q9NUY4	Silent	SNP	ENST00000372358.5	37	c.105G>A	CCDS6935.1																																																																																				0.592	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285		37	33	0	0	0	1	0	37	33				
UBR5	51366	broad.mit.edu	37	8	103359294	103359294	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:103359294C>G	ENST00000520539.1	-	6	1019	c.413G>C	c.(412-414)gGa>gCa	p.G138A	UBR5_ENST00000220959.4_Missense_Mutation_p.G138A|UBR5_ENST00000521922.1_Missense_Mutation_p.G138A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	138					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCACCACTTCCACCCACTCC	0.453																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(412-414)gGa>gCa		ubiquitin protein ligase E3 component n-recognin 5							100.0	109.0	106.0					8																	103359294		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359294C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.413G>C	8.37:g.103359294C>G	ENSP00000429084:p.Gly138Ala					UBR5_ENST00000521922.1_Missense_Mutation_p.G138A|UBR5_ENST00000220959.4_Missense_Mutation_p.G138A	p.G138A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	1019	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		138					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.413G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765836	0.69878	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.42900	0.96;0.96;0.97	5.66	5.66	0.87406	.	0.062598	0.64402	D	0.000008	T	0.33411	0.0862	N	0.25647	0.755	0.58432	D	0.999999	B;B	0.31435	0.323;0.323	B;B	0.28916	0.096;0.096	T	0.05716	-1.0868	10	0.21540	T	0.41	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	138;138	E7EMW7;O95071	.;UBR5_HUMAN	A	138	ENSP00000429084:G138A;ENSP00000220959:G138A;ENSP00000427819:G138A	ENSP00000220959:G138A	G	-	2	0	UBR5	103428470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.657000	0.67996	2.832000	0.97577	0.655000	0.94253	GGA		0.453	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		13	156	0	0	0	1	0	13	156				
PSMD1	5707	broad.mit.edu	37	2	232026148	232026148	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:232026148C>G	ENST00000308696.6	+	20	2475	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	PSMD1_ENST00000373635.4_Missense_Mutation_p.F771L|PSMD1_ENST00000409643.1_Missense_Mutation_p.F771L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	771					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGTTTTGGTTCTGGTTTCCTC	0.463																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2311-2313)ttC>ttG		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						528.0	436.0	467.0					2																	232026148		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232026148C>G	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2313C>G	2.37:g.232026148C>G	ENSP00000309474:p.Phe771Leu					PSMD1_ENST00000373635.4_Missense_Mutation_p.F771L|PSMD1_ENST00000409643.1_Missense_Mutation_p.F771L	p.F771L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	20	2475	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	771					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.2313C>G	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687748	0.88639	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	M	0.67700	2.07	0.80722	D	1	P;P	0.50443	0.895;0.935	B;P	0.47402	0.313;0.546	T	0.65364	-0.6186	9	0.48119	T	0.1	-10.0927	15.0374	0.71761	0.0:0.9309:0.0:0.0691	.	771;771	Q99460;Q99460-2	PSMD1_HUMAN;.	L	771	.	ENSP00000309474:F771L	F	+	3	2	PSMD1	231734392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.358000	0.52284	2.717000	0.92951	0.655000	0.94253	TTC		0.463	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			9	144	0	0	0	1	0	9	144				
ACTRT3	84517	broad.mit.edu	37	3	169486048	169486048	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:169486048C>G	ENST00000330368.2	-	2	665	c.291G>C	c.(289-291)ccG>ccC	p.P97P	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	97						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											GGCCATCACACGGCTTCAGCT	0.493																																						ENST00000330368.2																			0											c.(289-291)ccG>ccC		actin-related protein T3							72.0	71.0	71.0					3																	169486048		2203	4300	6503	SO:0001819	synonymous_variant	84517					cytoplasm|cytoskeleton		g.chr3:169486048C>G	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.291G>C	3.37:g.169486048C>G							p.P97P	NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN			2	665	-			97					Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	c.291G>C	CCDS3206.1																																																																																				0.493	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		5	111	0	0	0	1	0	5	111				
GSDMA	284110	broad.mit.edu	37	17	38133089	38133089	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:38133089G>A	ENST00000301659.4	+	12	1234	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGATGGAACAGAACTTCCTGC	0.522																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1114-1116)caG>caA		gasdermin A							152.0	152.0	152.0					17																	38133089		1921	4126	6047	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133089G>A	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1116G>A	17.37:g.38133089G>A							p.Q372Q	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1234	+			372					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.1116G>A	CCDS45669.1																																																																																				0.522	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		18	80	0	0	0	1	0	18	80				
LTBP4	8425	broad.mit.edu	37	19	41115660	41115660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41115660G>A	ENST00000308370.7	+	14	1768	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	LTBP4_ENST00000396819.3_Missense_Mutation_p.E523K|LTBP4_ENST00000545697.1_Missense_Mutation_p.E43K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E553K|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	590	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGTGGACGAATGTCGCCG	0.706																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(1768-1770)Gaa>Aaa		latent transforming growth factor beta binding protein 4							18.0	22.0	21.0					19																	41115660		1959	4130	6089	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41115660G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1768G>A	19.37:g.41115660G>A	ENSP00000311905:p.Glu590Lys					LTBP4_ENST00000545697.1_Missense_Mutation_p.E43K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E553K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E523K|LTBP4_ENST00000602240.1_3'UTR	p.E590K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	1768	+			590			Cys-rich.|EGF-like 4; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.1768G>A		.	.	.	.	.	.	.	.	.	.	g	23.1	4.371089	0.82573	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.95	3.91	0.45181	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001521	D	0.99302	0.9756	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.98936	1.0789	10	0.66056	D	0.02	.	13.7447	0.62868	0.0:0.0:0.8444:0.1556	.	523;590;553	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	K	553;43;590;523	ENSP00000204005:E553K;ENSP00000441054:E43K;ENSP00000311905:E590K;ENSP00000380031:E523K	ENSP00000204005:E553K	E	+	1	0	LTBP4	45807500	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	6.776000	0.75023	1.100000	0.41517	-0.335000	0.08231	GAA		0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	38	0	0	0	1	0	4	38				
DBI	1622	broad.mit.edu	37	2	120124575	120124575	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:120124575C>A	ENST00000355857.3	+	0	79				DBI_ENST00000535617.1_De_novo_Start_OutOfFrame|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000535757.1_De_novo_Start_OutOfFrame|C2orf76_ENST00000498049.1_5'Flank|DBI_ENST00000393103.2_5'Flank|DBI_ENST00000311521.4_5'Flank|C2orf76_ENST00000409466.2_5'Flank|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000409094.1_De_novo_Start_InFrame|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000542275.1_5'Flank	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GCGATCGCTTCCTGGTCCTCG	0.647																																						ENST00000535617.1																			0				kidney(1)|lung(4)|skin(1)	6								diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							23.0	25.0	24.0					2																	120124575		692	1591	2283			1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120124575C>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.-53C>A	2.37:g.120124575C>A						DBI_ENST00000409094.1_De_novo_Start_InFrame|DBI_ENST00000535757.1_De_novo_Start_OutOfFrame|DBI_ENST00000355857.3_De_novo_Start_OutOfFrame		NM_001178041.1	NP_001171512.1	P07108	ACBP_HUMAN			0	23	+								B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Translation_Start_Site	SNP	ENST00000355857.3	37		CCDS42740.1																																																																																				0.647	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		7	15	1	0	8.12818e-05	1	8.40655e-05	7	15				
PON3	5446	broad.mit.edu	37	7	94989368	94989368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:94989368G>A	ENST00000265627.5	-	9	992	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR|PON3_ENST00000427422.1_3'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	328					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GAGGTGCCCTGAAGCACAGAG	0.453																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(982-984)Cag>Tag		paraoxonase 3							104.0	99.0	101.0					7																	94989368		2203	4299	6502	SO:0001587	stop_gained	5446							g.chr7:94989368G>A	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.982C>T	7.37:g.94989368G>A	ENSP00000265627:p.Gln328*					PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron	p.Q328*	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		9	992	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Nonsense_Mutation	SNP	ENST00000265627.5	37	c.982C>T	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129589	0.77549	.	.	ENSG00000105852	ENST00000265627	.	.	.	4.7	4.7	0.59300	.	0.252268	0.42821	D	0.000649	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.3285	17.8086	0.88609	0.0:0.0:1.0:0.0	.	.	.	.	X	328	.	ENSP00000265627:Q328X	Q	-	1	0	PON3	94827304	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.468000	0.53086	2.616000	0.88540	0.655000	0.94253	CAG		0.453	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		10	117	0	0	0	1	0	10	117				
CCDC82	79780	broad.mit.edu	37	11	96106622	96106622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:96106622C>A	ENST00000278520.5	-	5	1429	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	CCDC82_ENST00000542662.1_Missense_Mutation_p.S334I|CCDC82_ENST00000423339.2_Missense_Mutation_p.S334I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATAGTGGTCACTAAAAGAATC	0.299																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1000-1002)aGt>aTt		coiled-coil domain containing 82							43.0	48.0	46.0					11																	96106622		2194	4280	6474	SO:0001583	missense	79780						protein binding	g.chr11:96106622C>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1001G>T	11.37:g.96106622C>A	ENSP00000278520:p.Ser334Ile					CCDC82_ENST00000542662.1_Missense_Mutation_p.S334I|CCDC82_ENST00000423339.2_Missense_Mutation_p.S334I	p.S334I			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	5	1429	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	334					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1001G>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396563	0.62177	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.47869	0.83;0.83;0.83	6.05	3.16	0.36331	.	0.279855	0.40728	N	0.001032	T	0.38904	0.1058	L	0.50333	1.59	0.41541	D	0.988511	P	0.44521	0.837	B	0.43225	0.412	T	0.18023	-1.0350	10	0.38643	T	0.18	-5.5257	4.5629	0.12168	0.1285:0.6106:0.1243:0.1366	.	334	Q8N4S0	CCD82_HUMAN	I	334	ENSP00000278520:S334I;ENSP00000444010:S334I;ENSP00000397156:S334I	ENSP00000278520:S334I	S	-	2	0	CCDC82	95746270	0.895000	0.30542	0.999000	0.59377	0.998000	0.95712	0.275000	0.18698	0.879000	0.35944	0.650000	0.86243	AGT		0.299	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		4	29	1	0	0.00909568	1	0.00924881	4	29				
MRPS5	64969	broad.mit.edu	37	2	95772185	95772185	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:95772185C>G	ENST00000272418.2	-	6	863	c.655G>C	c.(655-657)Gat>Cat	p.D219H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	219	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCTGGTATCAAAATCCTCA	0.438																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(655-657)Gat>Cat		mitochondrial ribosomal protein S5							132.0	136.0	135.0					2																	95772185		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95772185C>G	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.655G>C	2.37:g.95772185C>G	ENSP00000272418:p.Asp219His						p.D219H	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			6	863	-			219			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.655G>C	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413291	0.62511	.	.	ENSG00000144029	ENST00000272418	.	.	.	4.84	4.84	0.62591	Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.046961	0.85682	D	0.000000	D	0.83248	0.5213	M	0.87758	2.905	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.71656	0.974;0.876	D	0.86084	0.1546	9	0.72032	D	0.01	-23.6206	15.8236	0.78678	0.0:1.0:0.0:0.0	.	219;219	B4DIW8;P82675	.;RT05_HUMAN	H	219	.	ENSP00000272418:D219H	D	-	1	0	MRPS5	95135912	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	5.908000	0.69916	2.661000	0.90470	0.462000	0.41574	GAT		0.438	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		13	63	0	0	0	1	0	13	63				
CCNF	899	broad.mit.edu	37	16	2499298	2499298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2499298G>T	ENST00000397066.4	+	12	1322	c.1234G>T	c.(1234-1236)Gat>Tat	p.D412Y		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	412					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CACTGTGGTGGATTACAAGGA	0.657																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1234-1236)Gat>Tat		cyclin F							59.0	60.0	59.0					16																	2499298		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2499298G>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1234G>T	16.37:g.2499298G>T	ENSP00000380256:p.Asp412Tyr						p.D412Y	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			12	1322	+		Ovarian(90;0.17)	412					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1234G>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305445	0.81247	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.24151	1.87	5.43	5.43	0.79202	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.52734	-0.8536	10	0.66056	D	0.02	-27.6362	17.8173	0.88639	0.0:0.0:1.0:0.0	.	412	P41002	CCNF_HUMAN	Y	412;327	ENSP00000380256:D412Y	ENSP00000293968:D327Y	D	+	1	0	CCNF	2439299	1.000000	0.71417	0.978000	0.43139	0.854000	0.48673	8.701000	0.91331	2.544000	0.85801	0.563000	0.77884	GAT		0.657	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		17	38	1	0	3.52763e-06	1	3.69911e-06	17	38				
SPTBN2	6712	broad.mit.edu	37	11	66468476	66468476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66468476G>A	ENST00000533211.1	-	17	3425	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1032*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1032*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1032					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCACTGCCTGAGCGGGATGG	0.716																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3094-3096)Cag>Tag		spectrin, beta, non-erythrocytic 2							23.0	27.0	26.0					11																	66468476		2198	4289	6487	SO:0001587	stop_gained	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468476G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3094C>T	11.37:g.66468476G>A	ENSP00000432568:p.Gln1032*					SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1032*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1032*	p.Q1032*			O15020	SPTN2_HUMAN			17	3425	-			1032					O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	c.3094C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	39	7.393130	0.98255	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	11.3889	0.49802	0.0:0.0:0.8187:0.1813	.	.	.	.	X	1032	.	ENSP00000311489:Q1032X	Q	-	1	0	SPTBN2	66225052	1.000000	0.71417	0.979000	0.43373	0.027000	0.11550	6.392000	0.73213	2.343000	0.79666	0.491000	0.48974	CAG		0.716	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	86	0	0	0	1	0	9	86				
TTBK1	84630	broad.mit.edu	37	6	43220495	43220495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43220495G>A	ENST00000259750.4	+	3	210	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GATCGGGGGCGGGGGCTTTGG	0.582																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(127-129)Ggg>Agg		tau tubulin kinase 1							50.0	51.0	51.0					6																	43220495		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43220495G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.127G>A	6.37:g.43220495G>A	ENSP00000259750:p.Gly43Arg					TTBK1_ENST00000304139.5_5'UTR	p.G43R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		3	210	+			43			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.127G>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316041	0.81469	.	.	ENSG00000146216	ENST00000259750	D	0.96365	-3.99	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.99023	0.9666	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99136	1.0854	10	0.87932	D	0	.	16.1115	0.81266	0.0:0.0:1.0:0.0	.	43	Q5TCY1	TTBK1_HUMAN	R	43	ENSP00000259750:G43R	ENSP00000259750:G43R	G	+	1	0	TTBK1	43328473	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.476000	0.97823	2.092000	0.63282	0.313000	0.20887	GGG		0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			11	59	0	0	0	1	0	11	59				
FAM134C	162427	broad.mit.edu	37	17	40733939	40733939	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40733939G>T	ENST00000309428.5	-	9	1352	c.1293C>A	c.(1291-1293)ctC>ctA	p.L431L	FAM134C_ENST00000585894.1_Silent_p.L334L|FAM134C_ENST00000543197.1_Silent_p.L236L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	431						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGGACCGGAGGAAGCCTC	0.607																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(1291-1293)ctC>ctA		family with sequence similarity 134, member C							48.0	45.0	46.0					17																	40733939		2203	4300	6503	SO:0001819	synonymous_variant	162427					integral to membrane		g.chr17:40733939G>T	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1293C>A	17.37:g.40733939G>T						FAM134C_ENST00000585894.1_Silent_p.L334L|FAM134C_ENST00000543197.1_Silent_p.L236L	p.L431L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1352	-		Breast(137;0.00116)	431					B3KR75	Silent	SNP	ENST00000309428.5	37	c.1293C>A	CCDS11432.1																																																																																				0.607	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		6	49	1	0	0.0215528	1	0.0218421	6	49				
ZNF571	51276	broad.mit.edu	37	19	38055701	38055701	+	Silent	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38055701T>C	ENST00000328550.2	-	4	1728	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.S543S|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Silent_p.S543S|ZNF571_ENST00000593133.1_Silent_p.S543S|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	543					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)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTAAGGTGTGAGCCACGAA	0.423																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1627-1629)tcA>tcG		zinc finger protein 571							102.0	102.0	102.0					19																	38055701		2203	4300	6503	SO:0001819	synonymous_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055701T>C	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1629A>G	19.37:g.38055701T>C						ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Silent_p.S543S|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Silent_p.S543S|ZNF571_ENST00000358744.3_Silent_p.S543S|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA	p.S543S			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1728	-			543					Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	37	c.1629A>G	CCDS12505.1																																																																																				0.423	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		26	25	0	0	0	1	0	26	25				
CROCCP2	84809	broad.mit.edu	37	1	16945551	16945551	+	lincRNA	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:16945551C>T	ENST00000412962.1	-	0	1968				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GTGTACCCATCAACTTCTCTG	0.637																																						ENST00000412962.1																			0																																																			84809							g.chr1:16945551C>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.16945551C>T														0	1968	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.637	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		17	240	0	0	0	1	0	17	240				
COL11A1	1301	broad.mit.edu	37	1	103491398	103491398	+	Intron	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:103491398C>T	ENST00000370096.3	-	7	1210				COL11A1_ENST00000358392.2_Silent_p.K297K|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATAACTTTTCTTCTTCTTGG	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(889-891)aaG>aaA		collagen, type XI, alpha 1							158.0	159.0	158.0					1																	103491398		2202	4299	6501	SO:0001627	intron_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491398C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-229G>A	1.37:g.103491398C>T						COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	p.K297K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	6	1208	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	297			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.891G>A	CCDS778.1																																																																																				0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	54	0	0	0	1	0	7	54				
RFFL	117584	broad.mit.edu	37	17	33339097	33339097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:33339097G>C	ENST00000315249.7	-	7	1204	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	RFFL_ENST00000584655.1_Missense_Mutation_p.L292V|RFFL_ENST00000378516.2_Missense_Mutation_p.L320V|RFFL_ENST00000447669.2_Missense_Mutation_p.L328V|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.L237V|RFFL_ENST00000268850.7_Missense_Mutation_p.L292V|RFFL_ENST00000413582.2_Missense_Mutation_p.L320V|RFFL_ENST00000394597.2_Missense_Mutation_p.L328V|RFFL_ENST00000415395.2_Missense_Mutation_p.L328V					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase									p.L328F(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACTCCAGAAGAACACAGTCA	0.502																																						ENST00000315249.7																			1	Substitution - Missense(1)	p.L328F(1)	lung(1)	kidney(1)|large_intestine(2)|lung(3)	6						c.(982-984)Ctt>Gtt		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							149.0	112.0	125.0					17																	33339097		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33339097G>C	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.982C>G	17.37:g.33339097G>C	ENSP00000326170:p.Leu328Val					RFFL_ENST00000413582.2_Missense_Mutation_p.L320V|RFFL_ENST00000584655.1_Missense_Mutation_p.L292V|RFFL_ENST00000447669.2_Missense_Mutation_p.L328V|RFFL_ENST00000415395.2_Missense_Mutation_p.L328V|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.L237V|RFFL_ENST00000394597.2_Missense_Mutation_p.L328V|RFFL_ENST00000268850.7_Missense_Mutation_p.L292V|RFFL_ENST00000378516.2_Missense_Mutation_p.L320V	p.L328V			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1204	-		Ovarian(249;0.17)	328						Missense_Mutation	SNP	ENST00000315249.7	37	c.982C>G	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367371	0.82463	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.65	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	L	0.48260	1.515	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.77557	0.99;0.989;0.99	D	0.85234	0.1034	10	0.72032	D	0.01	-14.7724	11.6781	0.51442	0.1433:0.0:0.8567:0.0	.	292;328;320	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	V	328;328;320;292	ENSP00000326170:L328V;ENSP00000378096:L328V;ENSP00000367777:L320V;ENSP00000268850:L292V	ENSP00000268850:L292V	L	-	1	0	RFFL	30363210	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.032000	0.57274	0.914000	0.36822	0.655000	0.94253	CTT		0.502	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		11	53	0	0	0	1	0	11	53				
USP9X	8239	broad.mit.edu	37	X	40994016	40994016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:40994016C>T	ENST00000324545.8	+	5	994	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	USP9X_ENST00000378308.2_Missense_Mutation_p.R121C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	121					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCGATTTTTCCGTGATGGGCT	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(361-363)Cgt>Tgt		ubiquitin specific peptidase 9, X-linked							163.0	147.0	153.0					X																	40994016		2176	4278	6454	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40994016C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.361C>T	X.37:g.40994016C>T	ENSP00000316357:p.Arg121Cys					USP9X_ENST00000378308.2_Missense_Mutation_p.R121C	p.R121C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			5	994	+			121					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.361C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430823	0.62844	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03496	3.91;3.91	4.89	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.964	T	0.00130	-1.2014	10	0.87932	D	0	.	13.2309	0.59943	0.2894:0.7106:0.0:0.0	.	121;121	Q93008-1;Q93008	.;USP9X_HUMAN	C	121	ENSP00000367558:R121C;ENSP00000316357:R121C	ENSP00000316357:R121C	R	+	1	0	USP9X	40878960	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	2.909000	0.48758	0.386000	0.24997	0.534000	0.68092	CGT		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	29	0	0	0	1	0	8	29				
FCRL3	115352	broad.mit.edu	37	1	157666098	157666098	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	FCRL3_ENST00000368186.5_Silent_p.V288V|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTAGATTCACATTAGACA	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(862-864)gtG>gtA		Fc receptor-like 3							77.0	74.0	75.0					1																	157666098		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666098C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.864G>A	1.37:g.157666098C>T						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V288V|RP11-367J7.3_ENST00000453692.1_RNA	p.V288V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1155	-	all_hematologic(112;0.0378)		288			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.864G>A	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		8	62	0	0	0	1	0	8	62				
ECT2	1894	broad.mit.edu	37	3	172474892	172474892	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:172474892C>G	ENST00000392692.3	+	5	599	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ECT2_ENST00000417960.1_Silent_p.L109L|ECT2_ENST00000232458.5_Silent_p.L110L|ECT2_ENST00000441497.2_Silent_p.L110L|ECT2_ENST00000540509.1_Silent_p.L141L|ECT2_ENST00000427830.1_Silent_p.L110L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	141					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTAATGACCTCTACAAGGCTG	0.343																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(325-327)ctC>ctG		epithelial cell transforming sequence 2 oncogene							107.0	111.0	109.0					3																	172474892		2203	4300	6503	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172474892C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.423C>G	3.37:g.172474892C>G						ECT2_ENST00000441497.2_Silent_p.L110L|ECT2_ENST00000392692.3_Silent_p.L141L|ECT2_ENST00000540509.1_Silent_p.L141L|ECT2_ENST00000427830.1_Silent_p.L110L|ECT2_ENST00000232458.5_Silent_p.L110L	p.L109L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		5	804	+	Ovarian(172;0.00197)|Breast(254;0.158)		110					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.327C>G	CCDS58860.1																																																																																				0.343	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		10	167	0	0	0	1	0	10	167				
CSMD1	64478	broad.mit.edu	37	8	3245115	3245115	+	Missense_Mutation	SNP	C	C	T	rs369227633		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:3245115C>T	ENST00000520002.1	-	19	3241	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CSMD1_ENST00000602723.1_Missense_Mutation_p.V896M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V896M|CSMD1_ENST00000539096.1_Missense_Mutation_p.V895M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V895M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V896M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V895M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	896	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAAAGTCACTGTGGACCTG	0.612																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2686-2688)Gtg>Atg		CUB and Sushi multiple domains 1		C	MET/VAL	0,4236		0,0,2118	46.0	54.0	51.0		2683	5.1	0.9	8		51	1,8435		0,1,4217	no	missense	CSMD1	NM_033225.5	21	0,1,6335	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	895/3565	3245115	1,12671	2118	4218	6336	SO:0001583	missense	64478					integral to membrane		g.chr8:3245115C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2686G>A	8.37:g.3245115C>T	ENSP00000430733:p.Val896Met					CSMD1_ENST00000539096.1_Missense_Mutation_p.V895M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V896M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V895M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V895M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V896M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V896M	p.V896M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	19	3241	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	896			Sushi 5.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2686G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.67|17.67	3.446371|3.446371	0.63178|0.63178	0.0|0.0	1.19E-4|1.19E-4	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.71579	.|-0.58;-0.58;-0.58;-0.58;-0.58	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.87865|0.87865	0.6285|0.6285	M|M	0.91300|0.91300	3.195|3.195	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.76494	.|0.999;0.999;0.995	.|D;D;D	.|0.87578	.|0.998;0.987;0.967	D|D	0.90719|0.90719	0.4633|0.4633	5|10	.|0.87932	.|D	.|0	.|.	18.5306|18.5306	0.90990|0.90990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|896;896;896	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	N|M	375|896;896;758;895;895;895	.|ENSP00000383047:V896M;ENSP00000430733:V896M;ENSP00000441462:V895M;ENSP00000446243:V895M;ENSP00000441675:V895M	.|ENSP00000320445:V758M	S|V	-|-	2|1	0|0	CSMD1|CSMD1	3232522|3232522	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.003000|0.003000	0.03518|0.03518	7.630000|7.630000	0.83225|0.83225	2.374000|2.374000	0.81015|0.81015	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.612	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	10	0	0	0	1	0	7	10				
IQGAP1	8826	broad.mit.edu	37	15	90984875	90984875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90984875T>C	ENST00000268182.5	+	8	911	c.787T>C	c.(787-789)Tac>Cac	p.Y263H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	263					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATATACTTTACCAGGCTAA	0.373																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(787-789)Tac>Cac		IQ motif containing GTPase activating protein 1							68.0	65.0	66.0					15																	90984875		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90984875T>C	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.787T>C	15.37:g.90984875T>C	ENSP00000268182:p.Tyr263His					IQGAP1_ENST00000560738.1_Intron	p.Y263H	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		8	911	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		263					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.787T>C	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263064	0.23051	.	.	ENSG00000140575	ENST00000268182	T	0.44083	0.93	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.49126	1.545	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15665	-1.0429	10	0.17369	T	0.5	-13.4924	13.9198	0.63923	0.0:0.0:0.0:1.0	.	263	P46940	IQGA1_HUMAN	H	263	ENSP00000268182:Y263H	ENSP00000268182:Y263H	Y	+	1	0	IQGAP1	88785879	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.996000	0.57009	2.051000	0.60960	0.533000	0.62120	TAC		0.373	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		3	37	0	0	0	1	0	3	37				
KCNK2	3776	broad.mit.edu	37	1	215345353	215345353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:215345353G>A	ENST00000444842.2	+	5	800	c.650G>A	c.(649-651)aGt>aAt	p.S217N	KCNK2_ENST00000391895.2_Missense_Mutation_p.S213N|KCNK2_ENST00000391894.2_Missense_Mutation_p.S202N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	217					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TGGAATGTTAGTCAGACCAAG	0.398																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(649-651)aGt>aAt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						146.0	125.0	132.0					1																	215345353		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215345353G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.650G>A	1.37:g.215345353G>A	ENSP00000394033:p.Ser217Asn					KCNK2_ENST00000391894.2_Missense_Mutation_p.S202N|KCNK2_ENST00000391895.2_Missense_Mutation_p.S213N	p.S217N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	5	800	+			217					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.650G>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031612	0.93575	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.25579	1.79;1.79;1.79	5.58	5.58	0.84498	.	0.074104	0.85682	D	0.000000	T	0.47135	0.1429	L	0.47190	1.495	0.80722	D	1	D;B;D	0.89917	0.998;0.23;1.0	D;B;D	0.91635	0.915;0.131;0.999	T	0.23013	-1.0200	10	0.45353	T	0.12	.	19.6349	0.95726	0.0:0.0:1.0:0.0	.	202;217;213	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	N	213;202;217	ENSP00000375765:S213N;ENSP00000375764:S202N;ENSP00000394033:S217N	ENSP00000375764:S202N	S	+	2	0	KCNK2	213411976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.640000	0.89533	0.558000	0.71614	AGT		0.398	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		17	30	0	0	0	1	0	17	30				
STK17A	9263	broad.mit.edu	37	7	43663374	43663374	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:43663374A>G	ENST00000319357.5	+	6	986	c.807A>G	c.(805-807)caA>caG	p.Q269Q		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATGATAAACAAGAAACATTCT	0.323																																						ENST00000319357.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(805-807)caA>caG		serine/threonine kinase 17a							98.0	99.0	98.0					7																	43663374		2202	4294	6496	SO:0001819	synonymous_variant	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43663374A>G	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.807A>G	7.37:g.43663374A>G							p.Q269Q	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN			6	986	+			269			Protein kinase.		A4D1V6|Q8IVC8	Silent	SNP	ENST00000319357.5	37	c.807A>G	CCDS5470.1																																																																																				0.323	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		22	24	0	0	0	1	0	22	24				
KCND2	3751	broad.mit.edu	37	7	120373044	120373044	+	Silent	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:120373044T>A	ENST00000331113.4	+	2	2168	c.1203T>A	c.(1201-1203)ccT>ccA	p.P401P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	401					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTGCTCTACCTGTTCCGGTGA	0.468																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1201-1203)ccT>ccA		potassium voltage-gated channel, Shal-related subfamily, member 2							187.0	158.0	168.0					7																	120373044		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120373044T>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1203T>A	7.37:g.120373044T>A							p.P401P	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			2	2168	+	all_neural(327;0.117)		401					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1203T>A	CCDS5776.1																																																																																				0.468	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	36	0	0	0	1	0	13	36				
FBXO40	51725	broad.mit.edu	37	3	121341500	121341500	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:121341500C>G	ENST00000338040.4	+	3	1638	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	408					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGAGAACTCAAAGGCCACG	0.468																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1222-1224)ctC>ctG		F-box protein 40							117.0	113.0	114.0					3																	121341500		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341500C>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1224C>G	3.37:g.121341500C>G							p.L408L	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1638	+			408					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1224C>G	CCDS33835.1																																																																																				0.468	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		8	157	0	0	0	1	0	8	157				
HIST1H2BK	85236	broad.mit.edu	37	6	27114238	27114238	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:27114238C>G	ENST00000356950.1	-	1	339	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.E114Q|MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(340-342)Gag>Cag		histone cluster 1, H2bk							65.0	72.0	70.0					6																	27114238		2202	4293	6495	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114238C>G	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.340G>C	6.37:g.27114238C>G	ENSP00000349430:p.Glu114Gln					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114Q	p.E114Q	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	381	-			114					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.340G>C	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.117556	0.56505	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.48836	0.8;0.8	4.05	4.05	0.47172	Histone-fold (2);	0.000000	0.38492	U	0.001662	T	0.50034	0.1592	M	0.91561	3.22	0.42346	D	0.992353	P	0.45396	0.857	B	0.42361	0.385	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.5252	0.67884	0.0:1.0:0.0:0.0	.	114	O60814	H2B1K_HUMAN	Q	114	ENSP00000380100:E114Q;ENSP00000349430:E114Q	ENSP00000349430:E114Q	E	-	1	0	HIST1H2BK	27222217	1.000000	0.71417	0.983000	0.44433	0.653000	0.38743	5.280000	0.65603	2.196000	0.70406	0.650000	0.86243	GAG		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		22	92	0	0	0	1	0	22	92				
PIEZO2	63895	broad.mit.edu	37	18	10696215	10696215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:10696215C>T	ENST00000503781.3	-	43	6707	c.6708G>A	c.(6706-6708)atG>atA	p.M2236I	PIEZO2_ENST00000538948.1_Missense_Mutation_p.M193I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M91I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2261I|PIEZO2_ENST00000302079.6_Missense_Mutation_p.M2236I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2236					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GAATGAGGACCATCACCAAAA	0.522																																						ENST00000302079.6																			0											c.(6706-6708)atG>atA		piezo-type mechanosensitive ion channel component 2							73.0	71.0	72.0					18																	10696215		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696215C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6708G>A	18.37:g.10696215C>T	ENSP00000421377:p.Met2236Ile					PIEZO2_ENST00000285141.4_Missense_Mutation_p.M91I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2261I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2236I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M193I	p.M2236I			Q9H5I5	PIEZ2_HUMAN			43	6707	-			2236					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6708G>A		.	.	.	.	.	.	.	.	.	.	C	30	5.051966	0.93793	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;D;D	0.85484	-1.99;-1.99;-1.99	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	M	0.79805	2.47	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89778	0.3959	10	0.22109	T	0.4	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	193	D6RFZ0	.	I	193;2236;193;91	ENSP00000303316:M2236I;ENSP00000443129:M193I;ENSP00000285141:M91I	ENSP00000285141:M91I	M	-	3	0	FAM38B	10686215	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.411000	0.80078	2.612000	0.88384	0.655000	0.94253	ATG		0.522	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		20	37	0	0	0	1	0	20	37				
CHGB	1114	broad.mit.edu	37	20	5897558	5897558	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5897558G>A	ENST00000378961.4	+	3	387	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	61						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCCAAGTCCTGAAGACGAGTA	0.542																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(181-183)ctG>ctA		chromogranin B (secretogranin 1)							117.0	88.0	98.0					20																	5897558		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5897558G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.183G>A	20.37:g.5897558G>A						CHGB_ENST00000488832.1_3'UTR	p.L61L	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			3	387	+			61					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.183G>A	CCDS13092.1																																																																																				0.542	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		27	109	0	0	0	1	0	27	109				
NAALAD2	10003	broad.mit.edu	37	11	89880576	89880576	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:89880576G>T	ENST00000534061.1	+	3	503	c.273G>T	c.(271-273)aaG>aaT	p.K91N	NAALAD2_ENST00000375944.3_Missense_Mutation_p.K91N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.K91N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.K91N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	91					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAGTGGAAGAAATTTGGAC	0.358																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(271-273)aaG>aaT		N-acetylated alpha-linked acidic dipeptidase 2							84.0	80.0	81.0					11																	89880576		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89880576G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.273G>T	11.37:g.89880576G>T	ENSP00000432481:p.Lys91Asn					NAALAD2_ENST00000525171.1_Missense_Mutation_p.K91N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.K91N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.K91N	p.K91N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			3	503	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	91					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.273G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822138	0.50739	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.13	2.24	0.28232	.	0.229671	0.37304	N	0.002146	T	0.44159	0.1280	M	0.72894	2.215	0.39569	D	0.969259	P;P;P;P;P	0.43094	0.799;0.505;0.545;0.627;0.681	B;B;B;B;B	0.39617	0.305;0.179;0.213;0.15;0.247	T	0.40156	-0.9578	9	.	.	.	-3.4917	9.9257	0.41492	0.2192:0.0:0.7808:0.0	.	91;91;91;91;91	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	N	91;91;91;91;37	ENSP00000432481:K91N;ENSP00000320083:K91N;ENSP00000435249:K91N;ENSP00000365111:K91N;ENSP00000435670:K37N	.	K	+	3	2	NAALAD2	89520224	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	2.431000	0.44775	0.275000	0.22094	0.644000	0.83932	AAG		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		20	30	1	0	4.96729e-08	1	5.31958e-08	20	30				
TARS2	80222	broad.mit.edu	37	1	150460453	150460453	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:150460453G>C	ENST00000369064.3	+	2	220	c.186G>C	c.(184-186)aaG>aaC	p.K62N	TARS2_ENST00000438568.2_Missense_Mutation_p.K62N|TARS2_ENST00000606933.1_Missense_Mutation_p.K62N|TARS2_ENST00000369054.2_Missense_Mutation_p.K62N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	62					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACTATTAAGATATCACTTC	0.527																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(184-186)aaG>aaC		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						65.0	63.0	64.0					1																	150460453		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150460453G>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.186G>C	1.37:g.150460453G>C	ENSP00000358060:p.Lys62Asn					TARS2_ENST00000369054.2_Missense_Mutation_p.K62N|TARS2_ENST00000606933.1_Missense_Mutation_p.K62N|TARS2_ENST00000438568.2_Missense_Mutation_p.K62N	p.K62N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	220	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		62					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.186G>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363663	0.61513	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	5.21	-0.528	0.11905	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.652329	0.15848	N	0.241689	T	0.17577	0.0422	L	0.43598	1.365	0.09310	N	1	B;P	0.44521	0.009;0.837	B;P	0.49683	0.008;0.619	T	0.08432	-1.0722	9	0.48119	T	0.1	-9.7622	4.9608	0.14065	0.4452:0.0:0.4158:0.1391	.	62;62	Q9H9V2;Q9BW92	.;SYTM_HUMAN	N	62	.	ENSP00000358049:K62N	K	+	3	2	TARS2	148727077	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	0.037000	0.13840	-0.004000	0.14419	0.561000	0.74099	AAG		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		6	58	0	0	0	1	0	6	58				
RPS6KA2	6196	broad.mit.edu	37	6	166952261	166952261	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:166952261G>A	ENST00000265678.4	-	2	334	c.111C>T	c.(109-111)gtC>gtT	p.V37V	RPS6KA2_ENST00000503859.1_Silent_p.V45V|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000510118.1_Silent_p.V62V|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	37					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCTCCTTCACGACGCCTTCTT	0.547																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(184-186)gtC>gtT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							130.0	113.0	119.0					6																	166952261		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166952261G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.111C>T	6.37:g.166952261G>A						RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.V45V|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.V37V	p.V62V			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	4	526	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	37			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.186C>T	CCDS5294.1																																																																																				0.547	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		11	67	0	0	0	1	0	11	67				
APOA4	337	broad.mit.edu	37	11	116692572	116692572	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692572C>T	ENST00000357780.3	-	3	316	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	68	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTGTTCACTTCTCCAAGTTTG	0.537																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(202-204)Gaa>Aaa		apolipoprotein A-IV							142.0	134.0	136.0					11																	116692572		2201	4296	6497	SO:0001583	missense	337							g.chr11:116692572C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.202G>A	11.37:g.116692572C>T	ENSP00000350425:p.Glu68Lys						p.E68K	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	316	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.202G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831582	0.32329	.	.	ENSG00000110244	ENST00000357780	T	0.75260	-0.92	5.37	4.45	0.53987	Apolipoprotein/apolipophorin (1);	1.833990	0.02579	N	0.098688	T	0.76800	0.4038	M	0.83012	2.62	0.09310	N	1	B	0.18741	0.03	B	0.17433	0.018	T	0.53251	-0.8465	10	0.33141	T	0.24	-0.7357	5.0759	0.14630	0.0:0.612:0.1974:0.1906	.	68	P06727	APOA4_HUMAN	K	68	ENSP00000350425:E68K	ENSP00000350425:E68K	E	-	1	0	APOA4	116197782	0.000000	0.05858	0.006000	0.13384	0.369000	0.29798	0.616000	0.24344	1.252000	0.44001	0.462000	0.41574	GAA		0.537	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		38	94	0	0	0	1	0	38	94				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	87	0	0	0	1	0	5	87				
IL18RAP	8807	broad.mit.edu	37	2	103053683	103053683	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:103053683C>A	ENST00000264260.2	+	6	1180	c.591C>A	c.(589-591)ctC>ctA	p.L197L	AC007278.3_ENST00000450893.1_RNA|AC007278.2_ENST00000436582.1_RNA|IL18RAP_ENST00000409369.1_Silent_p.L55L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	197	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGAAAACTCCTCTCTGTGG	0.348																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(589-591)ctC>ctA		interleukin 18 receptor accessory protein							98.0	87.0	91.0					2																	103053683		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103053683C>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.591C>A	2.37:g.103053683C>A						IL18RAP_ENST00000409369.1_Silent_p.L55L	p.L197L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			6	1180	+			197			Ig-like C2-type 1.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.591C>A	CCDS2061.1																																																																																				0.348	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		16	37	1	0	3.41278e-10	1	3.68093e-10	16	37				
C4B	721	broad.mit.edu	37	6	31996955	31996955	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31996955C>T	ENST00000435363.2	+	28	3600	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	C4B_ENST00000425700.2_Silent_p.I1172I	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1172					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	AAGCCTCCATCTCAAAGGCAA	0.607																																						ENST00000435363.2																			0											c.(3514-3516)atC>atT		complement component 4B (Chido blood group)							99.0	83.0	88.0					6																	31996955		1558	3549	5107	SO:0001819	synonymous_variant	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996955C>T	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3516C>T	6.37:g.31996955C>T						C4B_ENST00000425700.2_Silent_p.I1172I	p.I1172I	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			28	3600	+			1172					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000435363.2	37	c.3516C>T	CCDS47405.1																																																																																				0.607	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		20	120	0	0	0	1	0	20	120				
AGAP1	116987	broad.mit.edu	37	2	236877175	236877175	+	Missense_Mutation	SNP	C	C	T	rs199499559|rs35347272		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:236877175C>T	ENST00000304032.8	+	13	2133	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	AGAP1_ENST00000409538.1_Missense_Mutation_p.P730L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P465L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P357L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGCTCGACCCGCCCCCCTCC	0.577																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2188-2190)cCg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							32.0	42.0	38.0					2																	236877175		2203	4297	6500	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236877175C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1553C>T	2.37:g.236877175C>T	ENSP00000307634:p.Pro518Leu					AGAP1_ENST00000304032.7_Missense_Mutation_p.P518L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P357L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P465L	p.P730L			Q9UPQ3	AGAP1_HUMAN			12	2685	+			518					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2189C>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267039	0.80469	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;D;D;T	0.81996	-0.49;-1.56;-1.56;0.56	5.09	5.09	0.68999	Pleckstrin homology domain (3);	0.187815	0.46758	D	0.000270	D	0.89674	0.6783	L	0.58810	1.83	0.80722	D	1	D;B	0.89917	1.0;0.082	D;B	0.87578	0.998;0.027	D	0.89548	0.3797	10	0.48119	T	0.1	.	18.5143	0.90930	0.0:1.0:0.0:0.0	.	465;518	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	518;465;730;357	ENSP00000307634:P518L;ENSP00000338378:P465L;ENSP00000386897:P730L;ENSP00000411824:P357L	ENSP00000307634:P518L	P	+	2	0	AGAP1	236541914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.359000	0.80004	0.650000	0.86243	CCG		0.577	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		12	34	0	0	0	1	0	12	34				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	284802							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	82	0	0	0	1	0	6	82				
DLST	1743	broad.mit.edu	37	14	75361060	75361060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:75361060G>T	ENST00000334220.4	+	10	779	c.718G>T	c.(718-720)Gag>Tag	p.E240*	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Nonsense_Mutation_p.E154*	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	240					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GCGTCTGAAGGAGGCCCAGAA	0.458																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(718-720)Gag>Tag		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							193.0	174.0	181.0					14																	75361060		2203	4300	6503	SO:0001587	stop_gained	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75361060G>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.718G>T	14.37:g.75361060G>T	ENSP00000335304:p.Glu240*					DLST_ENST00000334212.6_Nonsense_Mutation_p.E154*|DLST_ENST00000555190.1_3'UTR	p.E240*	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	10	779	+			240					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Nonsense_Mutation	SNP	ENST00000334220.4	37	c.718G>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219198	0.95104	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-55.0159	20.0498	0.97621	0.0:0.0:1.0:0.0	.	.	.	.	X	240;154;223	.	ENSP00000238671:E223X	E	+	1	0	DLST	74430813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.753000	0.94483	0.557000	0.71058	GAG		0.458	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			22	105	1	0	5.26018e-13	1	5.81895e-13	22	105				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943722	53943722	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:53943722C>A	ENST00000263634.3	-	6	897	c.763G>T	c.(763-765)Gca>Tca	p.A255S	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A182S|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A293S|ASB3_ENST00000406625.2_Missense_Mutation_p.A290S|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A182S	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CCCATTTGTGCAGCTGCATGA	0.408																																						ENST00000263634.3																			0											c.(763-765)Gca>Tca									157.0	145.0	149.0					2																	53943722		2203	4300	6503	SO:0001583	missense	100302652				intracellular signal transduction			g.chr2:53943722C>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.763G>T	2.37:g.53943722C>A	ENSP00000263634:p.Ala255Ser					GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A182S|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A182S|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.A290S|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A293S|GPR75-ASB3_ENST00000482829.1_5'UTR	p.A255S	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			6	897	-			290						Missense_Mutation	SNP	ENST00000263634.3	37	c.763G>T	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936645|2.936645	0.52972|0.52972	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	T;T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56;-0.56|.	5.26|5.26	4.38|4.38	0.52667|0.52667	Ankyrin repeat-containing domain (4);|.	0.046874|.	0.85682|.	D|.	0.000000|.	T|T	0.77315|0.77315	0.4112|0.4112	M|M	0.83223|0.83223	2.63|2.63	.|.	.|.	.|.	B;B;B|.	0.26547|.	0.152;0.013;0.077|.	B;B;B|.	0.37731|.	0.257;0.03;0.08|.	T|T	0.82362|0.82362	-0.0495|-0.0495	9|4	0.21540|.	T|.	0.41|.	.|.	15.6629|15.6629	0.77203|0.77203	0.1383:0.8617:0.0:0.0|0.1383:0.8617:0.0:0.0	.|.	172;290;255|.	B4DZX6;Q2TAI4;Q9Y575|.	.;.;ASB3_HUMAN|.	S|F	255;290;182;182;293;172|247	ENSP00000263634:A255S;ENSP00000385085:A290S;ENSP00000384728:A182S;ENSP00000378206:A182S;ENSP00000313756:A293S|.	ENSP00000263634:A255S|.	A|C	-|-	1|2	0|0	ASB3|ASB3	53797226|53797226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.508000|5.508000	0.67006|0.67006	1.353000|1.353000	0.45828|0.45828	-0.230000|-0.230000	0.12252|0.12252	GCA|TGC		0.408	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			41	76	1	0	2.35958e-20	1	2.71983e-20	41	76				
MED16	10025	broad.mit.edu	37	19	889662	889662	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:889662C>T	ENST00000589119.1	-	3	422	c.423G>A	c.(421-423)gtG>gtA	p.V141V	MED16_ENST00000269814.4_Silent_p.V141V|MED16_ENST00000325464.1_Silent_p.V141V|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Silent_p.V141V|MED16_ENST00000395808.3_Silent_p.V141V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	141					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		GGGCCAGTTTCACACCATTGT	0.632																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(421-423)gtG>gtA		mediator complex subunit 16							69.0	52.0	58.0					19																	889662		2203	4300	6503	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:889662C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.423G>A	19.37:g.889662C>T						MED16_ENST00000395808.3_Silent_p.V141V|MED16_ENST00000325464.1_Silent_p.V141V|MED16_ENST00000269814.4_Silent_p.V141V|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Silent_p.V141V	p.V141V			Q9Y2X0	MED16_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)	4	573	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	141					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.423G>A	CCDS12047.1																																																																																				0.632	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		10	25	0	0	0	1	0	10	25				
OPA1	4976	broad.mit.edu	37	3	193333484	193333484	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193333484A>G	ENST00000392438.3	+	3	607	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	OPA1_ENST00000361908.3_Missense_Mutation_p.M125V|OPA1_ENST00000361150.2_Missense_Mutation_p.M125V|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.M125V|OPA1_ENST00000361510.2_Missense_Mutation_p.M125V|OPA1_ENST00000487986.1_3'UTR|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361828.2_Missense_Mutation_p.M125V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	125					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGGAAAGATATGATACCGGA	0.313																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(373-375)Atg>Gtg		optic atrophy 1 (autosomal dominant)							233.0	240.0	238.0					3																	193333484		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193333484A>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.373A>G	3.37:g.193333484A>G	ENSP00000376233:p.Met125Val					OPA1_ENST00000361908.3_Missense_Mutation_p.M125V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Missense_Mutation_p.M125V|OPA1_ENST00000361828.2_Missense_Mutation_p.M125V|OPA1_ENST00000361150.2_Missense_Mutation_p.M125V|OPA1_ENST00000392438.3_Missense_Mutation_p.M125V	p.M125V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	3	607	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		125					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.373A>G	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.750450|2.750450	0.49257|0.49257	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000434811|ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000419435;ENST00000392436	.|D;D;D;D;D;D;D;T;T	.|0.94897	.|-3.13;-3.11;-3.16;-3.18;-3.11;-3.55;-1.9;1.57;-0.93	5.97|5.97	4.81|4.81	0.61882|0.61882	.|.	.|0.113597	.|0.85682	.|D	.|0.000000	D|D	0.91901|0.91901	0.7436|0.7436	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;B;B;P;B;P;B	.|0.40431	.|0.066;0.252;0.006;0.002;0.717;0.024;0.464;0.024	.|B;B;B;B;B;B;B;B	.|0.35607	.|0.022;0.046;0.006;0.006;0.206;0.011;0.102;0.011	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.35671	.|T	.|0.21	-14.2234|-14.2234	12.7588|12.7588	0.57352|0.57352	0.863:0.137:0.0:0.0|0.863:0.137:0.0:0.0	.|.	.|125;125;125;125;125;125;125;125	.|E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.|.;OPA1_HUMAN;.;.;.;.;.;.	M|V	24|125;125;125;125;125;125;125;1;125	.|ENSP00000354681:M125V;ENSP00000376233:M125V;ENSP00000355324:M125V;ENSP00000355311:M125V;ENSP00000354429:M125V;ENSP00000354781:M125V;ENSP00000376232:M125V;ENSP00000399877:M1V;ENSP00000376231:M125V	.|ENSP00000354781:M125V	I|M	+|+	3|1	3|0	OPA1|OPA1	194816178|194816178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.485000|4.485000	0.60279|0.60279	1.067000|1.067000	0.40740|0.40740	-0.313000|-0.313000	0.08912|0.08912	ATA|ATG		0.313	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		54	75	0	0	0	1	0	54	75				
MYO5A	4644	broad.mit.edu	37	15	52611296	52611296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:52611296C>T	ENST00000399231.3	-	38	5363	c.5120G>A	c.(5119-5121)cGg>cAg	p.R1707Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1732Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1704Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1680Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1705Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1707	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATGTCCTTCCGCAGGAGAAG	0.537																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5119-5121)cGg>cAg		myosin VA (heavy chain 12, myoxin)							89.0	90.0	89.0					15																	52611296		2120	4247	6367	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52611296C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5120G>A	15.37:g.52611296C>T	ENSP00000382177:p.Arg1707Gln					MYO5A_ENST00000356338.6_Missense_Mutation_p.R1680Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1704Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1705Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1732Q	p.R1707Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	38	5363	-			1707			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5120G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229882	0.95173	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.89415	-2.47;-2.47;-2.5;-2.51;-2.45	5.57	5.57	0.84162	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.94427	0.7646	10	0.56958	D	0.05	.	19.5542	0.95335	0.0:1.0:0.0:0.0	.	437;1707;1680	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	Q	1707;1214;1704;1680;1732;1310;1705	ENSP00000382177:R1707Q;ENSP00000382179:R1704Q;ENSP00000348693:R1680Q;ENSP00000350945:R1732Q;ENSP00000451109:R1705Q	ENSP00000348693:R1680Q	R	-	2	0	MYO5A	50398588	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.818000	0.86416	2.636000	0.89361	0.467000	0.42956	CGG		0.537	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		6	74	0	0	0	1	0	6	74				
ABCC1	4363	broad.mit.edu	37	16	16208700	16208700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:16208700C>A	ENST00000399410.3	+	23	3332	c.3157C>A	c.(3157-3159)Ctg>Atg	p.L1053M	ABCC1_ENST00000349029.5_Missense_Mutation_p.L938M|ABCC1_ENST00000399408.2_Missense_Mutation_p.L1063M|ABCC1_ENST00000346370.5_Missense_Mutation_p.L997M|ABCC1_ENST00000345148.5_Missense_Mutation_p.L1053M|ABCC1_ENST00000351154.5_Missense_Mutation_p.L994M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1053	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CGTGGACCTGCTGCACAGCAT	0.597																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3187-3189)Ctg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						54.0	56.0	55.0					16																	16208700		2169	4279	6448	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208700C>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3157C>A	16.37:g.16208700C>A	ENSP00000382342:p.Leu1053Met					ABCC1_ENST00000346370.5_Missense_Mutation_p.L997M|ABCC1_ENST00000399410.3_Missense_Mutation_p.L1053M|ABCC1_ENST00000351154.5_Missense_Mutation_p.L994M|ABCC1_ENST00000349029.5_Missense_Mutation_p.L938M|ABCC1_ENST00000345148.5_Missense_Mutation_p.L1053M	p.L1063M			P33527	MRP1_HUMAN			24	3362	+			1053			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3187C>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816049	0.50527	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.22	4.28	0.50868	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.86178	2.8	0.48288	D	0.999624	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.999;1.0;1.0	D	0.97518	1.0071	10	0.87932	D	0	-15.2602	13.1008	0.59218	0.0:0.9226:0.0:0.0774	.	938;1053;997;994;1053;1063	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	M	1053;1063;997;994;1053;938;737	ENSP00000382342:L1053M;ENSP00000382340:L1063M;ENSP00000263019:L997M;ENSP00000263017:L994M;ENSP00000263014:L1053M;ENSP00000263016:L938M	ENSP00000263014:L1053M	L	+	1	2	ABCC1	16116201	1.000000	0.71417	0.878000	0.34440	0.020000	0.10135	4.950000	0.63603	1.216000	0.43427	-0.254000	0.11334	CTG		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		8	22	1	0	0.000274275	1	0.0002827	8	22				
FOXC2	2303	broad.mit.edu	37	16	86601490	86601490	+	Silent	SNP	C	C	G	rs528105097		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:86601490C>G	ENST00000320354.4	+	1	634	c.549C>G	c.(547-549)ctC>ctG	p.L183L	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	183					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGGCCCACCTCAAGGAGCCGC	0.677									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(547-549)ctC>ctG		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							15.0	21.0	19.0					16																	86601490		2067	4144	6211	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601490C>G	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.549C>G	16.37:g.86601490C>G							p.L183L	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	634	+			183					C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.549C>G	CCDS10958.1																																																																																				0.677	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		4	68	0	0	0	1	0	4	68				
APBA1	320	broad.mit.edu	37	9	72086606	72086606	+	Silent	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:72086606T>C	ENST00000265381.4	-	4	1524	c.1302A>G	c.(1300-1302)agA>agG	p.R434R	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	434	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCAAGCTTTTTCTTGACTGTA	0.333																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1300-1302)agA>agG		amyloid beta (A4) precursor protein-binding, family A, member 1							102.0	99.0	100.0					9																	72086606		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72086606T>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1302A>G	9.37:g.72086606T>C							p.R434R	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			4	1524	-			434			LIN-2/CASK binding.|Pro-rich.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1302A>G	CCDS6630.1																																																																																				0.333	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		10	18	0	0	0	1	0	10	18				
OSBP2	23762	broad.mit.edu	37	22	31091274	31091274	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:31091274G>A	ENST00000332585.6	+	1	482	c.378G>A	c.(376-378)ccG>ccA	p.P126P	OSBP2_ENST00000446658.2_Silent_p.P126P|OSBP2_ENST00000382310.3_Silent_p.P126P|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	126					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CATCGGAGCCGCTCTCCCGGG	0.672																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(376-378)ccG>ccA		oxysterol binding protein 2							26.0	33.0	31.0					22																	31091274		2015	4163	6178	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31091274G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.378G>A	22.37:g.31091274G>A						OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.P126P|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.P126P	p.P126P	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			1	482	+			126					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.378G>A	CCDS43002.1																																																																																				0.672	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		7	65	0	0	0	1	0	7	65				
IRF6	3664	broad.mit.edu	37	1	209965672	209965672	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209965672G>A	ENST00000367021.3	-	6	781	c.609C>T	c.(607-609)ccC>ccT	p.P203P	IRF6_ENST00000542854.1_Silent_p.P108P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	203					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TAGGTGCCTGGGGTACTTCCA	0.542										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(607-609)ccC>ccT		interferon regulatory factor 6							93.0	83.0	86.0					1																	209965672		2203	4300	6503	SO:0001819	synonymous_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209965672G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.609C>T	1.37:g.209965672G>A		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Silent_p.P108P	p.P203P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	781	-			203					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	37	c.609C>T	CCDS1492.1																																																																																				0.542	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		15	44	0	0	0	1	0	15	44				
MYH13	8735	broad.mit.edu	37	17	10265729	10265729	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:10265729T>G	ENST00000418404.3	-	3	459	c.296A>C	c.(295-297)gAa>gCa	p.E99A	MYH13_ENST00000252172.4_Missense_Mutation_p.E99A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	99	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACAGCAGGTTCATGCAGGTG	0.458																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(295-297)gAa>gCa		myosin, heavy chain 13, skeletal muscle							282.0	259.0	267.0					17																	10265729		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265729T>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.296A>C	17.37:g.10265729T>G	ENSP00000404570:p.Glu99Ala					MYH13_ENST00000252172.4_Missense_Mutation_p.E99A|MYH13_ENST00000570743.1_Missense_Mutation_p.E99A	p.E99A			Q9UKX3	MYH13_HUMAN			3	459	-			99			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.296A>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488465	0.64074	.	.	ENSG00000006788	ENST00000252172	D	0.90004	-2.6	4.4	4.4	0.53042	Myosin head, motor domain (2);	.	.	.	.	D	0.96824	0.8963	H	0.99211	4.47	0.48901	D	0.999721	D	0.57571	0.98	D	0.74023	0.982	D	0.98196	1.0465	9	0.87932	D	0	.	14.0676	0.64839	0.0:0.0:0.0:1.0	.	99	Q9UKX3	MYH13_HUMAN	A	99	ENSP00000252172:E99A	ENSP00000252172:E99A	E	-	2	0	MYH13	10206454	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	7.705000	0.84606	1.979000	0.57680	0.383000	0.25322	GAA		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	152	0	0	0	1	0	7	152				
KLHL24	54800	broad.mit.edu	37	3	183381386	183381386	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:183381386C>G	ENST00000454652.2	+	5	1447	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	KLHL24_ENST00000476808.1_Nonsense_Mutation_p.S354*|KLHL24_ENST00000242810.6_Nonsense_Mutation_p.S354*	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	354						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTACCAAATCAGAGTATGCA	0.373																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1060-1062)tCa>tGa		kelch-like family member 24							124.0	116.0	119.0					3																	183381386		2203	4300	6503	SO:0001587	stop_gained	54800					axon|cytoplasm|perikaryon		g.chr3:183381386C>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1061C>G	3.37:g.183381386C>G	ENSP00000395012:p.Ser354*					KLHL24_ENST00000242810.6_Nonsense_Mutation_p.S354*|KLHL24_ENST00000476808.1_Nonsense_Mutation_p.S354*	p.S354*			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		5	1447	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		354					A5PLN8|Q9H620|Q9NXT9	Nonsense_Mutation	SNP	ENST00000454652.2	37	c.1061C>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	37	6.595216	0.97692	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	19.4149	0.94690	0.0:1.0:0.0:0.0	.	.	.	.	X	354	.	ENSP00000242810:S354X	S	+	2	0	KLHL24	184864080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.675000	0.91044	0.462000	0.41574	TCA		0.373	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		7	145	0	0	0	1	0	7	145				
PMVK	10654	broad.mit.edu	37	1	154901617	154901617	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:154901617G>A	ENST00000368467.3	-	3	500	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	65					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTAGGTGCTGGTGTCCAGGA	0.547																																						ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(193-195)acC>acT		phosphomevalonate kinase							131.0	112.0	119.0					1																	154901617		2203	4300	6503	SO:0001819	synonymous_variant	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154901617G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.195C>T	1.37:g.154901617G>A							p.T65T	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	500	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		65					Q5TZW9	Silent	SNP	ENST00000368467.3	37	c.195C>T	CCDS1073.1																																																																																				0.547	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		18	81	0	0	0	1	0	18	81				
NUFIP2	57532	broad.mit.edu	37	17	27613894	27613894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:27613894G>A	ENST00000225388.4	-	2	1176	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	373	Ser-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGACACAGAAGAGTTCTGTAT	0.423																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1117-1119)tCt>tTt		nuclear fragile X mental retardation protein interacting protein 2							165.0	162.0	163.0					17																	27613894		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613894G>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1118C>T	17.37:g.27613894G>A	ENSP00000225388:p.Ser373Phe					NUFIP2_ENST00000579665.1_Intron	p.S373F	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1176	-			373			Ser-rich.		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1118C>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997145	0.35226	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.343665	0.29028	N	0.013366	T	0.47154	0.1430	N	0.14661	0.345	0.80722	D	1	P	0.42620	0.785	P	0.48141	0.568	T	0.48647	-0.9017	9	0.56958	D	0.05	-11.4154	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	373	Q7Z417	NUFP2_HUMAN	F	373	.	ENSP00000225388:S373F	S	-	2	0	NUFIP2	24638020	1.000000	0.71417	0.998000	0.56505	0.442000	0.32017	4.670000	0.61583	2.941000	0.99782	0.655000	0.94253	TCT		0.423	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		24	101	0	0	0	1	0	24	101				
BPNT1	10380	broad.mit.edu	37	1	220232268	220232268	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:220232268G>A	ENST00000469520.2	-	10	1294	c.845C>T	c.(844-846)gCa>gTa	p.A282V	BPNT1_ENST00000414869.2_Missense_Mutation_p.A246V|BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.A282V|BPNT1_ENST00000544404.1_Missense_Mutation_p.A227V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	282					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAGGACTCCTGCAGAGTTCAT	0.393																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(844-846)gCa>gTa		3'(2'), 5'-bisphosphate nucleotidase 1							180.0	169.0	173.0					1																	220232268		1929	4158	6087	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220232268G>A	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.845C>T	1.37:g.220232268G>A	ENSP00000446828:p.Ala282Val					BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.A282V|BPNT1_ENST00000544404.1_Missense_Mutation_p.A227V|BPNT1_ENST00000414869.2_Missense_Mutation_p.A246V	p.A282V			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	10	1294	-			282					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.845C>T	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186883	0.57909	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000544404;ENST00000414869	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.28	5.28	0.74379	.	.	.	.	.	T	0.78130	0.4235	L	0.50333	1.59	0.80722	D	1	B;P	0.46064	0.257;0.872	B;B	0.37601	0.216;0.254	T	0.76332	-0.2998	9	0.18276	T	0.48	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	246;282	B4DUS9;O95861	.;BPNT1_HUMAN	V	282;282;227;246	ENSP00000318852:A282V;ENSP00000446828:A282V;ENSP00000444398:A227V;ENSP00000410348:A246V	ENSP00000318852:A282V	A	-	2	0	BPNT1	218298891	1.000000	0.71417	0.191000	0.23289	0.972000	0.66771	9.690000	0.98676	2.643000	0.89663	0.555000	0.69702	GCA		0.393	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		14	156	0	0	0	1	0	14	156				
RYR2	6262	broad.mit.edu	37	1	237870491	237870491	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:237870491A>T	ENST00000366574.2	+	68	10140	c.9823A>T	c.(9823-9825)Aca>Tca	p.T3275S	RYR2_ENST00000542537.1_Missense_Mutation_p.T3259S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T3273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3275					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACATGAACACACTTCTAGG	0.473																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9823-9825)Aca>Tca		ryanodine receptor 2 (cardiac)							50.0	49.0	49.0					1																	237870491		1990	4162	6152	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870491A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9823A>T	1.37:g.237870491A>T	ENSP00000355533:p.Thr3275Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.T3259S|RYR2_ENST00000360064.6_Missense_Mutation_p.T3273S	p.T3275S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	10140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3275					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9823A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	6.335	0.429938	0.11987	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96200	-0.15;-3.94;-0.15	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.82976	0.5154	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81297	-0.0996	10	0.07990	T	0.79	-11.7729	16.0156	0.80439	1.0:0.0:0.0:0.0	.	3275	Q92736	RYR2_HUMAN	S	3275;3273;3259;230	ENSP00000355533:T3275S;ENSP00000353174:T3273S;ENSP00000443798:T3259S	ENSP00000353174:T3273S	T	+	1	0	RYR2	235937114	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	3.009000	0.49552	2.189000	0.69895	0.533000	0.62120	ACA		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	18	0	0	0	1	0	10	18				
HAP1	9001	broad.mit.edu	37	17	39881040	39881040	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:39881040C>T	ENST00000310778.5	-	12	1938	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	HAP1_ENST00000347901.4_Silent_p.L591L|HAP1_ENST00000393939.2_Silent_p.L566L|HAP1_ENST00000341193.5_Silent_p.L574L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	643					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCTTCCACCTCAGCTGCCGCC	0.627																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1696-1698)ctG>ctA		huntingtin-associated protein 1							97.0	103.0	101.0					17																	39881040		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881040C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1929G>A	17.37:g.39881040C>T						HAP1_ENST00000347901.4_Silent_p.L591L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.L574L|HAP1_ENST00000310778.5_Silent_p.L643L	p.L566L			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1707	-		Breast(137;0.000162)	643			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1698G>A																																																																																					0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		42	149	0	0	0	1	0	42	149				
KRT6B	3854	broad.mit.edu	37	12	52845708	52845708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:52845708C>T	ENST00000252252.3	-	1	202	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	52	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGCTCCTCCACATGCGCC	0.662																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(154-156)gGa>gAa		keratin 6B							63.0	66.0	65.0					12																	52845708		2202	4299	6501	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845708C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.155G>A	12.37:g.52845708C>T	ENSP00000252252:p.Gly52Glu						p.G52E	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	202	-			52			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.155G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190209	0.38707	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.92545	-3.06	3.07	2.14	0.27477	.	0.563410	0.16924	N	0.193961	D	0.92328	0.7566	M	0.89095	3.005	0.36449	D	0.865975	P	0.41313	0.745	B	0.41236	0.351	D	0.92854	0.6300	10	0.72032	D	0.01	.	8.8496	0.35192	0.1774:0.6719:0.1507:0.0	.	52	P04259	K2C6B_HUMAN	E	52	ENSP00000252252:G52E	ENSP00000252252:G52E	G	-	2	0	KRT6B	51131975	0.000000	0.05858	0.793000	0.32043	0.648000	0.38561	0.334000	0.19787	0.842000	0.35045	0.298000	0.19748	GGA		0.662	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		34	81	0	0	0	1	0	34	81				
MAN2C1	4123	broad.mit.edu	37	15	75648327	75648327	+	Missense_Mutation	SNP	G	G	A	rs139418901		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:75648327G>A	ENST00000267978.5	-	26	3089	c.3043C>T	c.(3043-3045)Cgg>Tgg	p.R1015W	MAN2C1_ENST00000565683.1_Missense_Mutation_p.R1032W|MAN2C1_ENST00000563622.1_Missense_Mutation_p.R916W|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R992W|MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1015					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGGTTGTCCCGAAGGGTCAAG	0.627																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(3094-3096)Cgg>Tgg		mannosidase, alpha, class 2C, member 1		G	TRP/ARG	0,4394		0,0,2197	86.0	80.0	82.0		3043	-3.4	0.0	15	dbSNP_134	82	1,8587	1.2+/-3.3	0,1,4293	no	missense	MAN2C1	NM_006715.2	101	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1015/1041	75648327	1,12981	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648327G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.3043C>T	15.37:g.75648327G>A	ENSP00000267978:p.Arg1015Trp					MAN2C1_ENST00000563622.1_Missense_Mutation_p.R916W|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R1015W|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R992W	p.R1032W	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			26	3105	-			1015					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.3094C>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015963	0.35606	0.0	1.16E-4	ENSG00000140400	ENST00000267978	T	0.79554	-1.28	4.74	-3.36	0.04913	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.690673	0.13830	N	0.359828	T	0.71929	0.3398	L	0.39245	1.2	0.09310	N	1	D;D	0.61697	0.99;0.983	P;P	0.51101	0.659;0.545	T	0.63695	-0.6579	10	0.66056	D	0.02	-8.4289	2.2075	0.03939	0.2837:0.3965:0.2039:0.1159	.	992;1015	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	W	1015	ENSP00000267978:R1015W	ENSP00000267978:R1015W	R	-	1	2	MAN2C1	73435380	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.178000	0.09782	-0.518000	0.06452	-0.448000	0.05591	CGG		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			7	29	0	0	0	1	0	7	29				
KIF20B	9585	broad.mit.edu	37	10	91518595	91518595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91518595G>A	ENST00000371728.3	+	27	4701	c.4636G>A	c.(4636-4638)Gaa>Aaa	p.E1546K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1546K|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1576K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1506K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1546					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAGATAATGAAATTGAACA	0.323																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4726-4728)Gaa>Aaa		kinesin family member 20B							62.0	61.0	61.0					10																	91518595		2202	4299	6501	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91518595G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4636G>A	10.37:g.91518595G>A	ENSP00000360793:p.Glu1546Lys					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.E1546K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1506K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1546K	p.E1576K			Q96Q89	KI20B_HUMAN			27	4798	+			1546			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.4726G>A		.	.	.	.	.	.	.	.	.	.	G	26.1	4.708177	0.89018	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.91	5.91	0.95273	.	0.000000	0.51477	D	0.000083	T	0.74688	0.3749	M	0.64997	1.995	0.42835	D	0.994035	D;D	0.89917	1.0;1.0	D;D	0.74348	0.963;0.983	T	0.71833	-0.4473	10	0.41790	T	0.15	-23.528	19.9087	0.97016	0.0:0.0:1.0:0.0	.	1546;1506	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	1506;1576;1546;1546	ENSP00000260753:E1506K;ENSP00000411545:E1576K;ENSP00000377830:E1546K;ENSP00000360793:E1546K	ENSP00000260753:E1506K	E	+	1	0	KIF20B	91508575	1.000000	0.71417	0.440000	0.26846	0.936000	0.57629	3.773000	0.55333	2.802000	0.96397	0.655000	0.94253	GAA		0.323	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		7	7	0	0	0	1	0	7	7				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	111	0	0	0	1	0	5	111				
DKK2	27123	broad.mit.edu	37	4	107956591	107956591	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:107956591C>A	ENST00000285311.3	-	1	863	c.158G>T	c.(157-159)cGa>cTa	p.R53L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	53					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCGCAGATCGATTGGCGGC	0.577																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(157-159)cGa>cTa		dickkopf WNT signaling pathway inhibitor 2							68.0	72.0	70.0					4																	107956591		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956591C>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.158G>T	4.37:g.107956591C>A	ENSP00000285311:p.Arg53Leu					DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	p.R53L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	863	-		Hepatocellular(203;0.217)	53					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.158G>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363826	0.24684	.	.	ENSG00000155011	ENST00000285311	T	0.45276	0.9	5.3	4.46	0.54185	.	0.141976	0.44688	D	0.000426	T	0.23171	0.0560	L	0.27053	0.805	0.80722	D	1	P;B	0.35959	0.53;0.001	B;B	0.24848	0.056;0.002	T	0.06144	-1.0843	10	0.21014	T	0.42	-11.1777	9.0232	0.36213	0.1487:0.7782:0.0:0.0732	.	53;53	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	L	53	ENSP00000285311:R53L	ENSP00000285311:R53L	R	-	2	0	DKK2	108176040	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.602000	0.54066	1.463000	0.47967	-0.190000	0.12839	CGA		0.577	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			7	64	1	0	0.0381472	1	0.03853	7	64				
SMPDL3A	10924	broad.mit.edu	37	6	123118043	123118043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:123118043C>T	ENST00000368440.4	+	3	578	c.401C>T	c.(400-402)aCc>aTc	p.T134I	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.T3I|SMPDL3A_ENST00000487215.1_3'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	134					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AATATGACAACCACCATCCAG	0.408																																						ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(400-402)aCc>aTc		sphingomyelin phosphodiesterase, acid-like 3A							134.0	118.0	123.0					6																	123118043		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123118043C>T	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.401C>T	6.37:g.123118043C>T	ENSP00000357425:p.Thr134Ile					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.T3I|SMPDL3A_ENST00000487215.1_3'UTR	p.T134I	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	3	578	+			134					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.401C>T	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	C	3.069	-0.191509	0.06299	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;T	0.94417	-3.42;2.72	5.61	-2.25	0.06888	Metallophosphoesterase domain (1);	1.186130	0.05454	N	0.550039	D	0.86711	0.5998	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.74881	-0.3513	10	0.41790	T	0.15	1.6096	15.3078	0.74008	0.0961:0.8273:0.0:0.0766	.	134	Q92484	ASM3A_HUMAN	I	134;3	ENSP00000357425:T134I;ENSP00000442152:T3I	ENSP00000357425:T134I	T	+	2	0	SMPDL3A	123159742	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.068000	0.11561	-1.039000	0.03275	-1.731000	0.00696	ACC		0.408	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		13	22	0	0	0	1	0	13	22				
PDE3B	5140	broad.mit.edu	37	11	14853295	14853295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853295G>T	ENST00000282096.4	+	9	2419	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	PDE3B_ENST00000455098.2_Missense_Mutation_p.G638V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GAAAAGATGGGAGAGAAATCA	0.294																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2065-2067)gGa>gTa		phosphodiesterase 3B, cGMP-inhibited							61.0	67.0	65.0					11																	14853295		2199	4292	6491	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14853295G>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2066G>T	11.37:g.14853295G>T	ENSP00000282096:p.Gly689Val					PDE3B_ENST00000455098.2_Missense_Mutation_p.G638V	p.G689V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			9	2419	+			689					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2066G>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475917	0.84640	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.75938	-0.98;-0.98	5.82	5.82	0.92795	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87867	0.2668	10	0.87932	D	0	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	638;689	B7ZM37;Q13370	.;PDE3B_HUMAN	V	689;638	ENSP00000282096:G689V;ENSP00000388644:G638V	ENSP00000282096:G689V	G	+	2	0	PDE3B	14809871	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.913000	0.92730	2.753000	0.94483	0.467000	0.42956	GGA		0.294	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		15	17	1	0	1.5739e-10	1	1.70977e-10	15	17				
RBM27	54439	broad.mit.edu	37	5	145610354	145610354	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145610354G>T	ENST00000265271.5	+	6	890	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	RBM27_ENST00000506502.1_Missense_Mutation_p.V242L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	242					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTACTGTGATCGCACC	0.468																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(724-726)Gtg>Ttg		RNA binding motif protein 27							141.0	121.0	127.0					5																	145610354		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145610354G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.724G>T	5.37:g.145610354G>T	ENSP00000265271:p.Val242Leu					RBM27_ENST00000506502.1_Missense_Mutation_p.V242L	p.V242L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	890	+			242					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.724G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458662	0.63401	.	.	ENSG00000091009	ENST00000265271	T	0.49432	0.78	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.55800	0.1943	L	0.59436	1.845	0.58432	D	0.999998	P;D	0.55605	0.767;0.972	B;P	0.51615	0.258;0.675	T	0.48525	-0.9028	10	0.15952	T	0.53	-7.8814	19.2991	0.94136	0.0:0.0:1.0:0.0	.	242;242	Q9P2N5;B3KY61	RBM27_HUMAN;.	L	242	ENSP00000265271:V242L	ENSP00000265271:V242L	V	+	1	0	RBM27	145590547	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.652000	0.74377	2.561000	0.86390	0.563000	0.77884	GTG		0.468	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		25	51	1	0	3.08376e-08	1	3.31422e-08	25	51				
TUBA3D	113457	broad.mit.edu	37	2	132238255	132238255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:132238255C>G	ENST00000321253.6	+	4	1096	c.989C>G	c.(988-990)gCg>gGg	p.A330G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	330					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GACGTCAACGCGGCCATCGCC	0.562																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(988-990)gCg>gGg		tubulin, alpha 3d							115.0	111.0	112.0					2																	132238255		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238255C>G	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.989C>G	2.37:g.132238255C>G	ENSP00000326042:p.Ala330Gly						p.A330G	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	1096	+			330					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.989C>G	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	4.561	0.104217	0.08731	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.84442	-1.85	2.24	2.24	0.28232	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.45606	U	0.000349	D	0.84483	0.5482	M	0.83953	2.67	0.44798	D	0.997803	B	0.02656	0.0	B	0.17098	0.017	D	0.84012	0.0349	10	0.87932	D	0	.	10.1507	0.42791	0.0:1.0:0.0:0.0	.	330	Q13748	TBA3C_HUMAN	G	330	ENSP00000326042:A330G	ENSP00000326042:A330G	A	+	2	0	TUBA3D	131954725	0.979000	0.34478	0.975000	0.42487	0.064000	0.16182	4.947000	0.63583	1.243000	0.43853	0.194000	0.17425	GCG		0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		26	66	0	0	0	1	0	26	66				
SPANXN2	494119	broad.mit.edu	37	X	142795431	142795431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:142795431C>T	ENST00000370498.1	-	2	1000	c.247G>A	c.(247-249)Gag>Aag	p.E83K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	83										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCTTGGACGGGA	0.468																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(247-249)Gag>Aag		SPANX family, member N2							312.0	286.0	295.0					X																	142795431		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795431C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.247G>A	X.37:g.142795431C>T	ENSP00000359529:p.Glu83Lys						p.E83K	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1000	-	Acute lymphoblastic leukemia(192;6.56e-05)		83					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.247G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	3.609	-0.079938	0.07141	.	.	ENSG00000203924	ENST00000370498	T	0.06768	3.26	0.225	0.225	0.15325	.	.	.	.	.	T	0.07052	0.0179	N	0.21142	0.635	0.09310	N	1	P	0.48089	0.905	P	0.47376	0.545	T	0.39078	-0.9631	8	0.26408	T	0.33	.	.	.	.	.	83	Q5MJ10	SPXN2_HUMAN	K	83	ENSP00000359529:E83K	ENSP00000359529:E83K	E	-	1	0	SPANXN2	142623097	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	0.081000	0.14823	0.280000	0.22209	0.284000	0.19432	GAG		0.468	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		21	144	0	0	0	1	0	21	144				
POU2F1	5451	broad.mit.edu	37	1	167353161	167353161	+	Silent	SNP	G	G	A	rs149991945		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:167353161G>A	ENST00000541643.3	+	9	879	c.717G>A	c.(715-717)tcG>tcA	p.S239S	POU2F1_ENST00000420254.3_Silent_p.S239S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Silent_p.S251S|POU2F1_ENST00000367866.2_Silent_p.S262S|POU2F1_ENST00000429375.2_Silent_p.S199S|RP11-52A20.2_ENST00000607611.1_RNA|POU2F1_ENST00000452019.1_Silent_p.S239S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	239					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTACAGTCGCAGCCAAGCA	0.438																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(751-753)tcG>tcA		POU class 2 homeobox 1							92.0	85.0	87.0					1																	167353161		2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167353161G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.717G>A	1.37:g.167353161G>A						POU2F1_ENST00000429375.2_Silent_p.S199S|POU2F1_ENST00000541643.3_Silent_p.S239S|POU2F1_ENST00000420254.3_Silent_p.S239S|POU2F1_ENST00000452019.1_Silent_p.S239S|POU2F1_ENST00000367866.2_Silent_p.S262S|POU2F1_ENST00000367865.1_3'UTR	p.S251S	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			8	988	+			239					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.753G>A																																																																																					0.438	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		26	36	0	0	0	1	0	26	36				
LRSAM1	90678	broad.mit.edu	37	9	130241761	130241761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:130241761G>A	ENST00000323301.4	+	12	1484	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	294					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCAGAAGGATGAGATCCTTCA	0.617																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(880-882)Gag>Aag		leucine rich repeat and sterile alpha motif containing 1							49.0	48.0	49.0					9																	130241761		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130241761G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.880G>A	9.37:g.130241761G>A	ENSP00000322937:p.Glu294Lys					LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K	p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			12	1484	+			294					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.880G>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972525	0.74246	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.77620	1.48;-1.11;1.48;1.48	5.74	5.74	0.90152	Insulin-like (1);	0.147979	0.64402	D	0.000008	D	0.83986	0.5373	L	0.45137	1.4	0.47407	D	0.999414	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.98	T	0.82047	-0.0651	10	0.36615	T	0.2	-26.478	17.4111	0.87486	0.0:0.0:1.0:0.0	.	294;294	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	294	ENSP00000300417:E294K;ENSP00000362421:E294K;ENSP00000322937:E294K;ENSP00000362419:E294K	ENSP00000300417:E294K	E	+	1	0	LRSAM1	129281582	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.191000	0.65110	2.707000	0.92482	0.563000	0.77884	GAG		0.617	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		9	28	0	0	0	1	0	9	28				
KIF13A	63971	broad.mit.edu	37	6	17837133	17837133	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:17837133C>T	ENST00000259711.6	-	11	1236	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	KIF13A_ENST00000378814.5_Silent_p.L377L|KIF13A_ENST00000378816.5_Silent_p.L377L|KIF13A_ENST00000378826.2_Silent_p.L377L|KIF13A_ENST00000378843.2_Silent_p.L377L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	377					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTCTCTCAGTTTCTCGA	0.522																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1129-1131)ctG>ctA		kinesin family member 13A							214.0	210.0	211.0					6																	17837133		1948	4148	6096	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837133C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1131G>A	6.37:g.17837133C>T						KIF13A_ENST00000378843.2_Silent_p.L377L|KIF13A_ENST00000259711.6_Silent_p.L377L|KIF13A_ENST00000378816.5_Silent_p.L377L|KIF13A_ENST00000378826.2_Silent_p.L377L	p.L377L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	1130	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	377					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.1131G>A	CCDS47381.1																																																																																				0.522	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			22	232	0	0	0	1	0	22	232				
OR1L1	26737	broad.mit.edu	37	9	125424594	125424594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:125424594G>C	ENST00000373686.1	+	1	750	c.750G>C	c.(748-750)atG>atC	p.M250I	OR1L1_ENST00000309623.1_Missense_Mutation_p.M200I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCACAGTAATGACAGAAGGCT	0.408																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(748-750)atG>atC		olfactory receptor, family 1, subfamily L, member 1							207.0	201.0	203.0					9																	125424594		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424594G>C		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.750G>C	9.37:g.125424594G>C	ENSP00000362790:p.Met250Ile						p.M250I			Q8NH94	OR1L1_HUMAN			1	750	+			250					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.750G>C		.	.	.	.	.	.	.	.	.	.	G	6.687	0.495303	0.12762	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00032	8.88;8.88	3.26	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.13272	0.32	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.12192	-1.0557	9	0.44086	T	0.13	.	3.2571	0.06835	0.1102:0.1656:0.5557:0.1684	.	250	Q8NH94	OR1L1_HUMAN	I	250;200	ENSP00000362790:M250I;ENSP00000310773:M200I	ENSP00000310773:M200I	M	+	3	0	OR1L1	124464415	0.000000	0.05858	0.216000	0.23742	0.176000	0.22953	-0.622000	0.05553	0.682000	0.31407	0.313000	0.20887	ATG		0.408	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				43	118	0	0	0	1	0	43	118				
HSPA8	3312	broad.mit.edu	37	11	122930906	122930906	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:122930906G>T	ENST00000532636.1	-	4	601	c.482C>A	c.(481-483)gCt>gAt	p.A161D	HSPA8_ENST00000453788.2_Missense_Mutation_p.A161D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534624.1_Missense_Mutation_p.A161D|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.A142D|HSPA8_ENST00000534319.1_De_novo_Start_OutOfFrame|HSPA8_ENST00000526862.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.A161D			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	161					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATAGTTCCAGCATCTTTGGT	0.418																																					Colon(21;486 594 5900 6733 14272)	ENST00000534319.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36								heat shock 70kDa protein 8							85.0	80.0	82.0					11																	122930906		2202	4296	6498	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930906G>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.482C>A	11.37:g.122930906G>T	ENSP00000437125:p.Ala161Asp					HSPA8_ENST00000227378.3_Missense_Mutation_p.A161D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534624.1_Missense_Mutation_p.A161D|HSPA8_ENST00000526110.1_Missense_Mutation_p.A142D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.A161D|HSPA8_ENST00000453788.2_Missense_Mutation_p.A161D				P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	188	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						Q9H3R6	Translation_Start_Site	SNP	ENST00000532636.1	37		CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699140	0.88830	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.86	3.94	0.45596	.	0.059344	0.64402	D	0.000005	T	0.64789	0.2630	H	0.99967	5.1	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.995;0.917;0.899;0.995	D;D;P;B;D	0.97110	1.0;0.931;0.501;0.367;0.931	T	0.81486	-0.0911	10	0.87932	D	0	-15.2374	13.1321	0.59389	0.0782:0.0:0.9218:0.0	.	161;161;161;161;161	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	D	161;161;161;161;142;101;120;161;161;161;161	ENSP00000437125:A161D;ENSP00000432083:A161D;ENSP00000404372:A161D;ENSP00000227378:A161D;ENSP00000433584:A142D;ENSP00000432884:A101D;ENSP00000436762:A120D;ENSP00000435154:A161D;ENSP00000431641:A161D;ENSP00000436183:A161D;ENSP00000434415:A161D	ENSP00000227378:A161D	A	-	2	0	HSPA8	122436116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.724000	0.98775	1.145000	0.42336	0.561000	0.74099	GCT		0.418	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			9	50	1	0	7.48243e-07	1	7.92875e-07	9	50				
ZNF43	7594	broad.mit.edu	37	19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:21991574C>G	ENST00000354959.4	-	4	1434	c.1265G>C	c.(1264-1266)gGa>gCa	p.G422A	ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000594012.1_Missense_Mutation_p.G416A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	422					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1246-1248)gGa>gCa		zinc finger protein 43							65.0	68.0	67.0					19																	21991574		2190	4292	6482	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991574C>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1265G>C	19.37:g.21991574C>G	ENSP00000347045:p.Gly422Ala					ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A	p.G416A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1761	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	422					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1247G>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040956	0.35989	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.26373	1.74	1.75	1.75	0.24633	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33644	0.0870	L	0.38649	1.16	0.30316	N	0.788022	D	0.76494	0.999	D	0.81914	0.995	T	0.21177	-1.0253	9	0.62326	D	0.03	.	4.0904	0.09967	0.2608:0.4817:0.2574:0.0	.	422	P17038	ZNF43_HUMAN	A	421;422	ENSP00000347045:G422A	ENSP00000347045:G422A	G	-	2	0	ZNF43	21783414	0.000000	0.05858	0.017000	0.16124	0.063000	0.16089	0.560000	0.23500	0.972000	0.38314	0.298000	0.19748	GGA		0.373	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		16	43	0	0	0	1	0	16	43				
PDE2A	5138	broad.mit.edu	37	11	72290389	72290389	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:72290389G>A	ENST00000334456.5	-	27	2540	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	PDE2A_ENST00000544570.1_Silent_p.I758I|PDE2A_ENST00000444035.2_Silent_p.I756I|PDE2A_ENST00000418754.2_Silent_p.I650I|PDE2A_ENST00000540345.1_Silent_p.I756I|PDE2A_ENST00000376450.3_Silent_p.I509I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	765	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTGTGGCCAAGATGATGTCCC	0.612																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2293-2295)atC>atT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						102.0	91.0	94.0					11																	72290389		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290389G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2295C>T	11.37:g.72290389G>A						PDE2A_ENST00000540345.1_Silent_p.I756I|PDE2A_ENST00000444035.2_Silent_p.I756I|PDE2A_ENST00000418754.2_Silent_p.I650I|PDE2A_ENST00000376450.3_Silent_p.I509I|PDE2A_ENST00000544570.1_Silent_p.I758I	p.I765I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2540	-			765			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2295C>T	CCDS8216.1																																																																																				0.612	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		6	121	0	0	0	1	0	6	121				
SSH1	54434	broad.mit.edu	37	12	109186365	109186365	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:109186365G>T	ENST00000326495.5	-	14	1683	c.1590C>A	c.(1588-1590)gtC>gtA	p.V530V	SSH1_ENST00000326470.5_Silent_p.V541V|SSH1_ENST00000551165.1_Silent_p.V530V|SSH1_ENST00000360239.3_Silent_p.V218V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	530					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCCAGGTGGACCAAGCTGC	0.657																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1588-1590)gtC>gtA		slingshot protein phosphatase 1							52.0	58.0	56.0					12																	109186365		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186365G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1590C>A	12.37:g.109186365G>T						SSH1_ENST00000360239.3_Silent_p.V218V|SSH1_ENST00000551165.1_Silent_p.V530V|SSH1_ENST00000326470.5_Silent_p.V541V	p.V530V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			14	1683	-			530					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.1590C>A	CCDS9121.1																																																																																				0.657	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		31	67	1	0	1.39806e-14	1	1.56956e-14	31	67				
FGA	2243	broad.mit.edu	37	4	155506937	155506937	+	Silent	SNP	G	G	T	rs368704885		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:155506937G>T	ENST00000302053.3	-	5	1722	c.1644C>A	c.(1642-1644)ggC>ggA	p.G548G	FGA_ENST00000403106.3_Silent_p.G548G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	548					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGATTCTGAGCCCCTAGACT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1642-1644)ggC>ggA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						75.0	75.0	75.0					4																	155506937		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506937G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1644C>A	4.37:g.155506937G>T						FGA_ENST00000403106.3_Silent_p.G548G	p.G548G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1722	-	all_hematologic(180;0.215)	Renal(120;0.0458)	548					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.1644C>A	CCDS3787.1																																																																																				0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		35	26	1	0	4.3181e-19	1	4.921e-19	35	26				
GNL1	2794	broad.mit.edu	37	6	30520892	30520892	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:30520892C>G	ENST00000376621.3	-	7	1843	c.873G>C	c.(871-873)ctG>ctC	p.L291L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	291	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGCTCTCAGCAACTGCT	0.577																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(871-873)ctG>ctC		guanine nucleotide binding protein-like 1							168.0	166.0	166.0					6																	30520892		2203	4300	6503	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520892C>G		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.873G>C	6.37:g.30520892C>G							p.L291L	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			7	1843	-			291					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.873G>C	CCDS4680.1																																																																																				0.577	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			48	194	0	0	0	1	0	48	194				
CTTN	2017	broad.mit.edu	37	11	70265886	70265886	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:70265886C>T	ENST00000301843.8	+	9	809	c.603C>T	c.(601-603)atC>atT	p.I201I	CTTN_ENST00000376561.3_Silent_p.I201I|CTTN_ENST00000346329.3_Silent_p.I201I|CTTN_ENST00000538675.1_5'Flank	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	201					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AATACGGTATCGACAAGGACA	0.418																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(601-603)atC>atT		cortactin							79.0	73.0	75.0					11																	70265886		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70265886C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.603C>T	11.37:g.70265886C>T						CTTN_ENST00000376561.3_Silent_p.I201I|CTTN_ENST00000301843.8_Silent_p.I201I	p.I201I	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	911	+			201					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.603C>T	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	C	1.452	-0.564837	0.03939	.	.	ENSG00000085733	ENST00000415461	.	.	.	4.92	-9.85	0.00476	.	.	.	.	.	T	0.49133	0.1539	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62110	-0.6923	4	.	.	.	-15.8219	10.5725	0.45209	0.0:0.1441:0.2871:0.5689	.	.	.	.	L	183	.	.	S	+	2	0	CTTN	69943534	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-2.682000	0.00836	-2.823000	0.00342	-0.948000	0.02665	TCG		0.418	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		9	271	0	0	0	1	0	9	271				
TAS2R14	50840	broad.mit.edu	37	12	11091155	11091155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:11091155T>C	ENST00000537503.1	-	1	707	c.652A>G	c.(652-654)Ata>Gta	p.I218V	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	218					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TCTCCGGATATTTTGACAGTG	0.423																																						ENST00000537503.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(652-654)Ata>Gta		taste receptor, type 2, member 14							72.0	81.0	78.0					12																	11091155		2203	4300	6503	SO:0001583	missense	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091155T>C	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.652A>G	12.37:g.11091155T>C	ENSP00000441949:p.Ile218Val					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR	p.I218V	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN			1	707	-			218					Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	c.652A>G	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978719	0.18812	.	.	ENSG00000212127	ENST00000537503	T	0.00737	5.76	3.95	-1.36	0.09085	.	3.675970	0.02730	U	0.114940	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49021	-0.8982	10	0.72032	D	0.01	.	7.7249	0.28755	0.0:0.4879:0.0:0.5121	.	218	Q9NYV8	T2R14_HUMAN	V	218	ENSP00000441949:I218V	ENSP00000375094:I218V	I	-	1	0	TAS2R14	10982422	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.401000	0.02502	-0.422000	0.07405	-0.937000	0.02696	ATA		0.423	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		14	38	0	0	0	1	0	14	38				
SYN3	8224	broad.mit.edu	37	22	33376640	33376640	+	Missense_Mutation	SNP	C	C	G	rs546569507		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:33376640C>G	ENST00000358763.2	-	3	601	c.359G>C	c.(358-360)cGa>cCa	p.R120P	SYN3_ENST00000332840.5_Missense_Mutation_p.R120P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	120	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCTCCACTCGGATCTCAAT	0.473																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(358-360)cGa>cCa		synapsin III							334.0	288.0	303.0					22																	33376640		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33376640C>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.359G>C	22.37:g.33376640C>G	ENSP00000351614:p.Arg120Pro					SYN3_ENST00000332840.5_Missense_Mutation_p.R120P	p.R120P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			3	601	-			120			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.359G>C	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945143	0.53079	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821	T;T	0.38401	1.14;1.14	4.63	4.63	0.57726	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.64402	D	0.000012	T	0.60843	0.2300	M	0.80616	2.505	0.58432	D	0.999992	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.75484	0.986;0.986;0.986	T	0.66586	-0.5886	10	0.87932	D	0	-3.3687	13.3267	0.60463	0.0:1.0:0.0:0.0	.	120;120;120	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	P	120	ENSP00000351614:R120P;ENSP00000330219:R120P	ENSP00000330219:R120P	R	-	2	0	SYN3	31706640	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.756000	0.47549	2.280000	0.76307	0.460000	0.39030	CGA		0.473	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			13	134	0	0	0	1	0	13	134				
CDC42BPA	8476	broad.mit.edu	37	1	227213809	227213809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:227213809C>G	ENST00000366769.3	-	30	5663	c.4372G>C	c.(4372-4374)Gat>Cat	p.D1458H	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D1471H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D1430H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D1493H|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D1438H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D1458H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D1377H	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAAAGATATCAACTGCATTT	0.408																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(4372-4374)Gat>Cat		CDC42 binding protein kinase alpha (DMPK-like)							100.0	98.0	99.0					1																	227213809		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227213809C>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4372G>C	1.37:g.227213809C>G	ENSP00000355731:p.Asp1458His					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D1438H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D1458H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D1493H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D1377H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D1471H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D1430H	p.D1458H	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			30	5663	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1471			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.4372G>C	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.897460|4.897460	0.91962|0.91962	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.047790|.	0.85682|.	D|.	0.000000|.	D|.	0.83133|.	0.5188|.	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.79108|.	0.955;0.972;0.992;0.987;0.978;0.99;0.99;0.987|.	D|.	0.84325|.	0.0518|.	10|.	0.87932|.	D|.	0|.	.|.	19.4074|19.4074	0.94653|0.94653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1438;1430;773;355;1377;1458;1493;660|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	H|S	1458;1377;1458;1493;1430;773;1438;1471|660;786;355;682	ENSP00000355731:D1458H;ENSP00000355729:D1377H;ENSP00000335341:D1458H;ENSP00000355728:D1493H;ENSP00000355726:D1430H;ENSP00000443275:D1438H;ENSP00000355727:D1471H|.	ENSP00000335341:D1458H|.	D|X	-|-	1|2	0|2	CDC42BPA|CDC42BPA	225280432|225280432	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.983000|0.983000	0.72400|0.72400	7.625000|7.625000	0.83145|0.83145	2.599000|2.599000	0.87857|0.87857	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.408	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		6	38	0	0	0	1	0	6	38				
RALGAPA2	57186	broad.mit.edu	37	20	20601267	20601267	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:20601267A>T	ENST00000202677.7	-	11	1248	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	414					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAAGGCAACAAAAATGCCTG	0.428																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1240-1242)tTg>tAg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							53.0	50.0	51.0					20																	20601267		1880	4125	6005	SO:0001587	stop_gained	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20601267A>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1241T>A	20.37:g.20601267A>T	ENSP00000202677:p.Leu414*						p.L414*	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			11	1383	-			414					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	c.1241T>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	40|40	8.339135|8.339135	0.98767|0.98767	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.064020	.|0.64402	.|D	.|0.000007	T|.	0.38295|.	0.1035|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34850|.	-0.9812|.	3|.	.|0.02654	.|T	.|1	.|.	15.8711|15.8711	0.79119|0.79119	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	231|414	.|.	.|ENSP00000202677:L414X	C|L	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20549267|20549267	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.189000|9.189000	0.94928|0.94928	2.155000|2.155000	0.67459|0.67459	0.482000|0.482000	0.46254|0.46254	TGT|TTG		0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	6	0	0	0	1	0	6	6				
WNK4	65266	broad.mit.edu	37	17	40947762	40947762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40947762C>T	ENST00000246914.5	+	16	3163	c.3142C>T	c.(3142-3144)Cag>Tag	p.Q1048*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1048					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAACCCCTCAGCTCACTTC	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3142-3144)Cag>Tag		WNK lysine deficient protein kinase 4							67.0	63.0	65.0					17																	40947762		2203	4300	6503	SO:0001587	stop_gained	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947762C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3142C>T	17.37:g.40947762C>T	ENSP00000246914:p.Gln1048*						p.Q1048*	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3163	+		Breast(137;0.000143)	1048					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Nonsense_Mutation	SNP	ENST00000246914.5	37	c.3142C>T	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863082	0.91511	.	.	ENSG00000126562	ENST00000246914	.	.	.	4.69	3.72	0.42706	.	0.606264	0.13779	N	0.363347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1976	8.9127	0.35563	0.0:0.8979:0.0:0.1021	.	.	.	.	X	1048	.	ENSP00000246914:Q1048X	Q	+	1	0	WNK4	38201288	0.228000	0.23718	0.986000	0.45419	0.303000	0.27691	0.818000	0.27295	1.353000	0.45828	0.491000	0.48974	CAG		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			4	48	0	0	0	1	0	4	48				
RNF141	50862	broad.mit.edu	37	11	10546740	10546740	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:10546740T>A	ENST00000265981.2	-	4	575	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	RNF141_ENST00000528665.1_Splice_Site_p.R145W	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	145					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ATTATATACCTTCCCATCCAA	0.353																																					Ovarian(8;377 410 25844 26058 41491)	ENST00000265981.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.e4+1		ring finger protein 141							84.0	83.0	83.0					11																	10546740		2200	4294	6494	SO:0001630	splice_region_variant	50862						zinc ion binding	g.chr11:10546740T>A	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.434+1A>T	11.37:g.10546740T>A						RNF141_ENST00000528665.1_Splice_Site_p.R145_splice	p.R145_splice	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	4	575	-			145					A8K149|Q9NZB4	Splice_Site	SNP	ENST00000265981.2	37	c.434_splice	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	T	32	5.187573	0.94923	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	T	0.72167	-0.63	5.62	5.62	0.85841	.	0.039511	0.85682	D	0.000000	T	0.74989	0.3789	L	0.56769	1.78	0.80722	D	1	D	0.55172	0.97	P	0.50049	0.629	T	0.78237	-0.2282	10	0.66056	D	0.02	-14.8122	15.8403	0.78840	0.0:0.0:0.0:1.0	.	145	Q8WVD5	RN141_HUMAN	W	145	ENSP00000265981:R145W	ENSP00000265981:R145W	R	-	1	2	RNF141	10503316	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.844000	0.69430	2.138000	0.66242	0.524000	0.50904	AGG		0.353	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422	Missense_Mutation	8	59	0	0	0	1	0	8	59				
PDE3B	5140	broad.mit.edu	37	11	14853294	14853294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853294G>T	ENST00000282096.4	+	9	2418	c.2065G>T	c.(2065-2067)Gga>Tga	p.G689*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.G638*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGAAAAGATGGGAGAGAAATC	0.299																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2065-2067)Gga>Tga		phosphodiesterase 3B, cGMP-inhibited							61.0	67.0	65.0					11																	14853294		2199	4291	6490	SO:0001587	stop_gained	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14853294G>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2065G>T	11.37:g.14853294G>T	ENSP00000282096:p.Gly689*					PDE3B_ENST00000455098.2_Nonsense_Mutation_p.G638*	p.G689*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			9	2418	+			689					B7ZM37|O00639|Q14408|Q6SEI4	Nonsense_Mutation	SNP	ENST00000282096.4	37	c.2065G>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	41	8.658988	0.98903	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	.	.	.	X	689;638	.	ENSP00000282096:G689X	G	+	1	0	PDE3B	14809870	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.913000	0.92730	2.753000	0.94483	0.467000	0.42956	GGA		0.299	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		15	17	1	0	1.02788e-11	1	1.1288e-11	15	17				
SLC38A1	81539	broad.mit.edu	37	12	46594952	46594952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:46594952G>C	ENST00000398637.5	-	13	1626	c.932C>G	c.(931-933)tCa>tGa	p.S311*	SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.S311*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	311					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GGAGATGTTTGAAACCATCTG	0.303																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(931-933)tCa>tGa		solute carrier family 38, member 1							65.0	60.0	61.0					12																	46594952		1810	4075	5885	SO:0001587	stop_gained	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594952G>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.932C>G	12.37:g.46594952G>C	ENSP00000381634:p.Ser311*					SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.S311*	p.S311*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1626	-	Lung SC(27;0.137)|Renal(347;0.236)		311					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Nonsense_Mutation	SNP	ENST00000398637.5	37	c.932C>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	43	10.334033	0.99385	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	.	.	.	5.67	5.67	0.87782	.	0.113886	0.39985	N	0.001214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.7242	19.7784	0.96405	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000381634:S311X	S	-	2	0	SLC38A1	44881219	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.453000	0.66645	2.673000	0.90976	0.557000	0.71058	TCA		0.303	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			5	18	0	0	0	1	0	5	18				
PRDM10	56980	broad.mit.edu	37	11	129785675	129785675	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:129785675C>A	ENST00000360871.3	-	16	2637	c.2406G>T	c.(2404-2406)aaG>aaT	p.K802N	PRDM10_ENST00000423662.2_Missense_Mutation_p.K720N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K776N|PRDM10_ENST00000358825.5_Missense_Mutation_p.K806N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K716N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K720N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	806					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGGTCGGAGCTTCCGAATGC	0.602																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2416-2418)aaG>aaT		PR domain containing 10							124.0	120.0	121.0					11																	129785675		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129785675C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2406G>T	11.37:g.129785675C>A	ENSP00000354118:p.Lys802Asn					PRDM10_ENST00000304538.6_Missense_Mutation_p.K716N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K720N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K720N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K802N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K776N	p.K806N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	17	2649	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	806					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2418G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658793	0.67586	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11604	2.78;2.83;2.78;2.76;2.83;2.76;2.86	6.17	-7.27	0.01461	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	N	0.08118	0	0.52501	D	0.99995	D;D;D;D;B;D	0.89917	0.999;1.0;0.999;1.0;0.291;1.0	D;D;D;D;B;D	0.83275	0.991;0.996;0.991;0.996;0.13;0.996	T	0.02104	-1.1213	10	0.72032	D	0.01	-29.2744	19.2109	0.93755	0.0:0.6724:0.0:0.3276	.	716;802;806;720;716;720	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	N	806;716;802;720;776;720;519	ENSP00000351686:K806N;ENSP00000302669:K716N;ENSP00000354118:K802N;ENSP00000398431:K720N;ENSP00000431262:K776N;ENSP00000432237:K720N;ENSP00000435940:K519N	ENSP00000302669:K716N	K	-	3	2	PRDM10	129290885	0.156000	0.22821	0.473000	0.27253	0.744000	0.42396	-0.501000	0.06398	-1.393000	0.02079	-1.105000	0.02106	AAG		0.602	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		39	76	1	0	2.40579e-17	1	2.73139e-17	39	76				
FLVCR1	28982	broad.mit.edu	37	1	213058711	213058711	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:213058711T>C	ENST00000366971.4	+	5	1367	c.1169T>C	c.(1168-1170)tTa>tCa	p.L390S	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	390					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTTTGTGGCTTATGGCTGGAT	0.353																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1168-1170)tTa>tCa		feline leukemia virus subgroup C cellular receptor 1							185.0	177.0	180.0					1																	213058711		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213058711T>C	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1169T>C	1.37:g.213058711T>C	ENSP00000355938:p.Leu390Ser					FLVCR1_ENST00000483790.1_3'UTR	p.L390S	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	5	1367	+			390					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.1169T>C	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.35|13.35	2.210796|2.210796	0.39102|0.39102	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	T|.	0.59906|.	0.23|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.153716|.	0.45867|.	D|.	0.000325|.	T|T	0.71576|0.71576	0.3356|0.3356	M|M	0.62723|0.62723	1.935|1.935	0.39807|0.39807	D|D	0.972642|0.972642	B|.	0.30741|.	0.293|.	P|.	0.50896|.	0.653|.	T|T	0.72246|0.72246	-0.4349|-0.4349	10|5	0.22109|.	T|.	0.4|.	-13.4294|-13.4294	15.5381|15.5381	0.76018|0.76018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	390|.	Q9Y5Y0|.	FLVC1_HUMAN|.	S|H	390|189	ENSP00000355938:L390S|.	ENSP00000355938:L390S|.	L|Y	+|+	2|1	0|0	FLVCR1|FLVCR1	211125334|211125334	0.963000|0.963000	0.33076|0.33076	0.333000|0.333000	0.25482|0.25482	0.221000|0.221000	0.24807|0.24807	7.544000|7.544000	0.82117|0.82117	2.136000|2.136000	0.66102|0.66102	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.353	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		13	50	0	0	0	1	0	13	50				
TP63	8626	broad.mit.edu	37	3	189526213	189526213	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:189526213C>A	ENST00000264731.3	+	4	566	c.477C>A	c.(475-477)ctC>ctA	p.L159L	TP63_ENST00000418709.2_Silent_p.L159L|TP63_ENST00000392461.3_Silent_p.L65L|TP63_ENST00000440651.2_Silent_p.L159L|TP63_ENST00000354600.5_Silent_p.L65L|TP63_ENST00000456148.1_Silent_p.L65L|TP63_ENST00000392463.2_Silent_p.L65L|TP63_ENST00000437221.1_Silent_p.L65L|TP63_ENST00000320472.5_Silent_p.L159L|TP63_ENST00000392460.3_Silent_p.L159L|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	159					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCGATGCTCTCTCTCCATCAC	0.642										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(475-477)ctC>ctA		tumor protein p63							190.0	134.0	153.0					3																	189526213		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526213C>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.477C>A	3.37:g.189526213C>A		HNSCC(45;0.13)				TP63_ENST00000392461.3_Silent_p.L65L|TP63_ENST00000437221.1_Silent_p.L65L|TP63_ENST00000354600.5_Silent_p.L65L|TP63_ENST00000440651.2_Silent_p.L159L|TP63_ENST00000392460.3_Silent_p.L159L|TP63_ENST00000320472.5_Silent_p.L159L|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Silent_p.L159L|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.L65L|TP63_ENST00000392463.2_Silent_p.L65L	p.L159L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	566	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		159					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.477C>A	CCDS3293.1																																																																																				0.642	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		110	45	1	0	1.11181e-28	1	1.29639e-28	110	45				
CEP89	84902	broad.mit.edu	37	19	33450813	33450813	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:33450813T>A	ENST00000305768.5	-	3	386	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	CEP89_ENST00000590597.2_Missense_Mutation_p.R100W	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	100					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACCGAGGCCTCAGCTGTGAG	0.577																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(298-300)Agg>Tgg		centrosomal protein 89kDa							105.0	84.0	91.0					19																	33450813		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33450813T>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.298A>T	19.37:g.33450813T>A	ENSP00000306105:p.Arg100Trp					CEP89_ENST00000590597.1_Missense_Mutation_p.R100W	p.R100W	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			3	386	-			100					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.298A>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672996	0.29693	.	.	ENSG00000121289	ENST00000305768	T	0.33654	1.4	5.48	-2.17	0.07059	.	0.598399	0.17057	N	0.188697	T	0.50222	0.1603	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.973	T	0.47058	-0.9146	10	0.87932	D	0	-4.7593	9.1518	0.36967	0.0:0.1932:0.5536:0.2533	.	100;100	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	W	100	ENSP00000306105:R100W	ENSP00000306105:R100W	R	-	1	2	CEP89	38142653	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.249000	0.18216	-0.945000	0.03681	-1.117000	0.02048	AGG		0.577	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		10	40	0	0	0	1	0	10	40				
XRRA1	143570	broad.mit.edu	37	11	74617424	74617424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:74617424G>T	ENST00000340360.6	-	10	1170	c.839C>A	c.(838-840)tCa>tAa	p.S280*	XRRA1_ENST00000527087.1_Nonsense_Mutation_p.S280*|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.S47*|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CCAGTCTACTGACTCGTCATA	0.453																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(838-840)tCa>tAa		X-ray radiation resistance associated 1							105.0	103.0	103.0					11																	74617424		1936	4122	6058	SO:0001587	stop_gained	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74617424G>T	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.839C>A	11.37:g.74617424G>T	ENSP00000339918:p.Ser280*					XRRA1_ENST00000527087.1_Nonsense_Mutation_p.S280*|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.S47*|RP11-147I3.1_ENST00000533875.1_RNA	p.S280*	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			10	1170	-			280						Nonsense_Mutation	SNP	ENST00000340360.6	37	c.839C>A	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	40	8.012756	0.98610	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407;ENST00000528219	.	.	.	5.56	4.62	0.57501	.	0.628588	0.13781	N	0.363228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-3.6628	12.5328	0.56126	0.0:0.1664:0.8336:0.0	.	.	.	.	X	280;47;280;280;280;288;47	.	ENSP00000319303:S47X	S	-	2	0	XRRA1	74295072	0.044000	0.20184	0.027000	0.17364	0.014000	0.08584	1.888000	0.39708	2.629000	0.89072	0.655000	0.94253	TCA		0.453	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		15	27	1	0	7.93312e-07	1	8.34774e-07	15	27				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	33	0	0	0	1	0	3	33				
PRPS2	5634	broad.mit.edu	37	X	12837736	12837736	+	Missense_Mutation	SNP	G	G	T	rs143528874		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:12837736G>T	ENST00000380668.5	+	5	769	c.641G>T	c.(640-642)cGt>cTt	p.R214L	PRPS2_ENST00000398491.2_Missense_Mutation_p.R217L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	214	Binding of phosphoribosylpyrophosphate. {ECO:0000255}.				5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GTGAAGGACCGTGTGGCCATC	0.552																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(640-642)cGt>cTt		phosphoribosyl pyrophosphate synthetase 2							253.0	219.0	231.0					X																	12837736		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837736G>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.641G>T	X.37:g.12837736G>T	ENSP00000370043:p.Arg214Leu					PRPS2_ENST00000398491.2_Missense_Mutation_p.R217L	p.R214L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			5	769	+			214			Binding of phosphoribosylpyrophosphate (Potential).		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.641G>T	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795527	0.70452	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	D;D	0.92911	-3.13;-3.13	4.94	4.94	0.65067	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	H	0.96943	3.91	0.80722	D	1	B;B	0.26635	0.155;0.128	B;B	0.41571	0.36;0.246	D	0.96707	0.9522	10	0.87932	D	0	-13.0807	17.5869	0.87984	0.0:0.0:1.0:0.0	.	214;217	P11908;P11908-2	PRPS2_HUMAN;.	L	214;217	ENSP00000370043:R214L;ENSP00000381504:R217L	ENSP00000370043:R214L	R	+	2	0	PRPS2	12747657	1.000000	0.71417	0.991000	0.47740	0.766000	0.43426	9.273000	0.95719	2.168000	0.68352	0.436000	0.28706	CGT		0.552	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		87	104	1	0	8.84886e-50	1	1.04798e-49	87	104				
OTULIN	90268	broad.mit.edu	37	5	14690362	14690362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:14690362G>A	ENST00000284274.4	+	6	887	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		270	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATGACCCAGGACAGCTTCTG	0.433																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(808-810)gGa>gAa		family with sequence similarity 105, member B							72.0	70.0	71.0					5																	14690362		1921	4140	6061	SO:0001583	missense	90268							g.chr5:14690362G>A																												ENST00000284274.4:c.809G>A	5.37:g.14690362G>A	ENSP00000284274:p.Gly270Glu						p.G270E	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			6	887	+	Lung NSC(4;0.00696)		270					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.809G>A	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	G	3.545	-0.092888	0.07053	.	.	ENSG00000154124	ENST00000284274	T	0.14022	2.54	6.07	0.706	0.18133	.	0.371112	0.33712	N	0.004640	T	0.04724	0.0128	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.44436	-0.9328	10	0.02654	T	1	-7.0245	7.9251	0.29870	0.2072:0.2323:0.5604:0.0	.	270	Q96BN8	F105B_HUMAN	E	270	ENSP00000284274:G270E	ENSP00000284274:G270E	G	+	2	0	FAM105B	14743362	0.001000	0.12720	0.752000	0.31206	0.884000	0.51177	0.620000	0.24403	0.130000	0.18549	0.655000	0.94253	GGA		0.433	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			19	40	0	0	0	1	0	19	40				
RPS6KB2	6199	broad.mit.edu	37	11	67196593	67196593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:67196593C>T	ENST00000312629.5	+	3	167	c.122C>T	c.(121-123)cCt>cTt	p.P41L	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.P41L|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	41					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTCCGTAGGCCTGTGGGACAC	0.612																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(121-123)cCt>cTt		ribosomal protein S6 kinase, 70kDa, polypeptide 2							84.0	92.0	89.0					11																	67196593		2134	4213	6347	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196593C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.122C>T	11.37:g.67196593C>T	ENSP00000308413:p.Pro41Leu					RPS6KB2_ENST00000539188.1_Missense_Mutation_p.P41L|RPS6KB2_ENST00000524814.1_3'UTR	p.P41L	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	167	+			41					B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.122C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172040	0.38315	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.75050	-0.9;0.84;-0.28	4.45	3.54	0.40534	.	0.637260	0.14528	N	0.314042	T	0.62011	0.2393	L	0.36672	1.1	0.44890	D	0.997904	B;B	0.16396	0.01;0.017	B;B	0.14023	0.01;0.007	T	0.57394	-0.7819	10	0.42905	T	0.14	.	6.7925	0.23707	0.0:0.7926:0.0:0.2074	.	41;41	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	L	64;41;41;41	ENSP00000436811:P64L;ENSP00000442949:P41L;ENSP00000308413:P41L	ENSP00000308413:P41L	P	+	2	0	RPS6KB2	66953169	0.110000	0.22057	0.992000	0.48379	0.664000	0.39144	0.424000	0.21330	1.088000	0.41272	-0.140000	0.14226	CCT		0.612	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		18	146	0	0	0	1	0	18	146				
NF1	4763	broad.mit.edu	37	17	29490346	29490346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:29490346C>T	ENST00000358273.4	+	4	814	c.431C>T	c.(430-432)tCt>tTt	p.S144F	NF1_ENST00000431387.4_Missense_Mutation_p.S144F|NF1_ENST00000356175.3_Missense_Mutation_p.S144F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	144					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTATTTTCTCTCAGCTGC	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(430-432)tCt>tTt		neurofibromin 1							60.0	59.0	59.0					17																	29490346		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490346C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.431C>T	17.37:g.29490346C>T	ENSP00000351015:p.Ser144Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.S144F|NF1_ENST00000431387.4_Missense_Mutation_p.S144F	p.S144F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	814	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	144					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.431C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985602	0.53934	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.81415	-1.49;-1.49;-1.49	5.84	5.84	0.93424	.	0.107337	0.64402	D	0.000005	D	0.87188	0.6115	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.69078	0.994;0.997;0.994;0.994	D;P;D;D	0.77004	0.989;0.795;0.989;0.989	T	0.81245	-0.1020	10	0.10111	T	0.7	.	20.1295	0.97995	0.0:1.0:0.0:0.0	.	144;144;144;144	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	F	144	ENSP00000412921:S144F;ENSP00000351015:S144F;ENSP00000348498:S144F	ENSP00000348498:S144F	S	+	2	0	NF1	26514472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.161000	0.77505	2.758000	0.94735	0.591000	0.81541	TCT		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	40	0	0	0	1	0	7	40				
PRKCSH	5589	broad.mit.edu	37	19	11559735	11559735	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:11559735C>G	ENST00000589838.1	+	14	1272	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	PRKCSH_ENST00000591462.1_Silent_p.V421V|PRKCSH_ENST00000252455.2_Silent_p.V424V|PRKCSH_ENST00000412601.1_Silent_p.V421V|PRKCSH_ENST00000587327.1_Silent_p.V421V|PRKCSH_ENST00000592741.1_Silent_p.V431V			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	424	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACAGATACGTCTACCGCCTCT	0.642																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1270-1272)gtC>gtG		protein kinase C substrate 80K-H							103.0	108.0	106.0					19																	11559735		2203	4300	6503	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559735C>G		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1272C>G	19.37:g.11559735C>G						PRKCSH_ENST00000587327.1_Silent_p.V421V|PRKCSH_ENST00000591462.1_Silent_p.V421V|PRKCSH_ENST00000589838.1_Silent_p.V424V|PRKCSH_ENST00000592741.1_Silent_p.V431V|PRKCSH_ENST00000412601.1_Silent_p.V421V	p.V424V	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			15	1608	+			424			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.1272C>G	CCDS32911.1																																																																																				0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			8	149	0	0	0	1	0	8	149				
ZNF208	7757	broad.mit.edu	37	19	22156461	22156461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:22156461C>A	ENST00000397126.4	-	4	1523	c.1375G>T	c.(1375-1377)Ggc>Tgc	p.G459C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTGCCACATTCTTCA	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1375-1377)Ggc>Tgc		zinc finger protein 208							73.0	79.0	77.0					19																	22156461		2149	4257	6406	SO:0001583	missense	7757							g.chr19:22156461C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1375G>T	19.37:g.22156461C>A	ENSP00000380315:p.Gly459Cys					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G459C	NM_007153.3	NP_009084.2					4	1523	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1375G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420931	0.25639	.	.	ENSG00000160321	ENST00000397126;ENST00000428290;ENST00000400646	T	0.22336	1.96	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44891	0.1315	.	.	.	0.33506	D	0.5905	D	0.89917	1.0	D	0.97110	1.0	T	0.61287	-0.7093	8	0.72032	D	0.01	.	12.3839	0.55322	0.0:1.0:0.0:0.0	.	459	O43345	ZN208_HUMAN	C	459;459;1	ENSP00000380315:G459C	ENSP00000380315:G459C	G	-	1	0	ZNF208	21948301	0.822000	0.29219	0.188000	0.23233	0.226000	0.24999	1.530000	0.36007	1.150000	0.42419	0.306000	0.20318	GGC		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	41	1	0	3.86212e-05	1	4.02193e-05	11	41				
GP1BA	2811	broad.mit.edu	37	17	4837009	4837009	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:4837009C>T	ENST00000329125.5	+	2	1185	c.1110C>T	c.(1108-1110)atC>atT	p.I370I		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	370	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGGAATCCATCACATTCTCCA	0.532																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(1108-1110)atC>atT		glycoprotein Ib (platelet), alpha polypeptide							159.0	164.0	162.0					17																	4837009		1967	4157	6124	SO:0001819	synonymous_variant	2811							g.chr17:4837009C>T		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1110C>T	17.37:g.4837009C>T							p.I370I	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	1185	+			370					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.1110C>T	CCDS54068.1																																																																																				0.532	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			30	144	0	0	0	1	0	30	144				
XKR3	150165	broad.mit.edu	37	22	17264947	17264947	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:17264947A>G	ENST00000331428.5	-	4	1044	c.942T>C	c.(940-942)taT>taC	p.Y314Y		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGATGGCAGCATATAGCAGTG	0.438																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(940-942)taT>taC		XK, Kell blood group complex subunit-related family, member 3							37.0	34.0	35.0					22																	17264947		1490	3451	4941	SO:0001819	synonymous_variant	150165					integral to membrane|plasma membrane		g.chr22:17264947A>G	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.942T>C	22.37:g.17264947A>G							p.Y314Y	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	1044	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	314					B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	c.942T>C	CCDS42975.1																																																																																				0.438	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		14	47	0	0	0	1	0	14	47				
DMGDH	29958	broad.mit.edu	37	5	78340264	78340264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:78340264C>T	ENST00000255189.3	-	6	885	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	DMGDH_ENST00000380311.4_Missense_Mutation_p.R85Q|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	286					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGGCAGTTCTCGTTTCAAAGC	0.408																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(856-858)cGa>cAa		dimethylglycine dehydrogenase							130.0	117.0	121.0					5																	78340264		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340264C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.857G>A	5.37:g.78340264C>T	ENSP00000255189:p.Arg286Gln					DMGDH_ENST00000380311.4_Missense_Mutation_p.R85Q|DMGDH_ENST00000540686.1_Intron	p.R286Q	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	885	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	286					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.857G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204548	0.38905	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.81247	-1.47;-1.47;-1.47	5.29	1.48	0.22813	FAD dependent oxidoreductase (1);	0.372260	0.29314	N	0.012508	T	0.63355	0.2504	L	0.27053	0.805	0.46061	D	0.998844	B;B;B	0.22146	0.03;0.065;0.036	B;B;B	0.16722	0.009;0.009;0.016	T	0.47873	-0.9083	10	0.21014	T	0.42	.	6.6525	0.22969	0.0:0.4938:0.1234:0.3828	.	85;136;286	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	Q	286;125;85;136	ENSP00000255189:R286Q;ENSP00000430972:R125Q;ENSP00000369667:R85Q	ENSP00000255189:R286Q	R	-	2	0	DMGDH	78376020	0.527000	0.26306	0.966000	0.40874	0.989000	0.77384	-0.216000	0.09266	0.330000	0.23485	0.650000	0.86243	CGA		0.408	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		11	51	0	0	0	1	0	11	51				
MTMR11	10903	broad.mit.edu	37	1	149908102	149908102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149908102C>A	ENST00000439741.2	-	2	337	c.87G>T	c.(85-87)atG>atT	p.M29I	MTMR11_ENST00000406732.3_Start_Codon_SNP_p.M1I|MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M29I	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	29							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCTCCGGCATCCTATTTT	0.557																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(85-87)atG>atT		myotubularin related protein 11							101.0	103.0	102.0					1																	149908102		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149908102C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.87G>T	1.37:g.149908102C>A	ENSP00000391668:p.Met29Ile					MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M29I|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Start_Codon_SNP_p.M1I	p.M29I	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	337	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		29					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.87G>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508101	0.64410	.	.	ENSG00000014914	ENST00000439741;ENST00000361405;ENST00000406732	D;T;D	0.95918	-3.41;0.98;-3.85	4.67	3.75	0.43078	.	.	.	.	.	D	0.88808	0.6537	L	0.57536	1.79	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.14578	0.002;0.011	D	0.85180	0.1003	8	.	.	.	.	9.9495	0.41630	0.2027:0.7973:0.0:0.0	.	1;29	A4FU01-6;A4FU01	.;MTMRB_HUMAN	I	29;29;1	ENSP00000391668:M29I;ENSP00000354941:M29I;ENSP00000383948:M1I	.	M	-	3	0	MTMR11	148174726	1.000000	0.71417	0.999000	0.59377	0.636000	0.38137	1.928000	0.40104	1.150000	0.42419	0.563000	0.77884	ATG		0.557	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		47	62	1	0	5.48756e-27	1	6.37401e-27	47	62				
THBS4	7060	broad.mit.edu	37	5	79372740	79372740	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:79372740T>A	ENST00000350881.2	+	16	2145	c.1955T>A	c.(1954-1956)cTg>cAg	p.L652Q	THBS4_ENST00000511733.1_Missense_Mutation_p.L561Q|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	652					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGTGCCCAGCTGGACACCGAT	0.547																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1954-1956)cTg>cAg		thrombospondin 4							205.0	190.0	195.0					5																	79372740		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372740T>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1955T>A	5.37:g.79372740T>A	ENSP00000339730:p.Leu652Gln					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L561Q	p.L652Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2145	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	652					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1955T>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219659	0.58560	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86497	-2.13;-2.13	5.22	5.22	0.72569	.	0.150468	0.45867	D	0.000324	D	0.91317	0.7262	L	0.56124	1.755	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90514	0.4483	10	0.38643	T	0.18	-18.8023	15.567	0.76300	0.0:0.0:0.0:1.0	.	652	P35443	TSP4_HUMAN	Q	652;561	ENSP00000339730:L652Q;ENSP00000422298:L561Q	ENSP00000339730:L652Q	L	+	2	0	THBS4	79408496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.311000	0.77944	0.528000	0.53228	CTG		0.547	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			51	116	0	0	0	1	0	51	116				
PC	5091	broad.mit.edu	37	11	66617885	66617885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66617885G>A	ENST00000393958.2	-	18	2617	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.R842W|PC_ENST00000393955.2_Missense_Mutation_p.R842W|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	842					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TACAGTCCCCGAGCCCCCTCC	0.587																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2524-2526)Cgg>Tgg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						57.0	56.0	56.0					11																	66617885		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617885G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2524C>T	11.37:g.66617885G>A	ENSP00000377530:p.Arg842Trp					PC_ENST00000393955.2_Missense_Mutation_p.R842W|PC_ENST00000393958.2_Missense_Mutation_p.R842W	p.R842W	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	19	2805	-		Melanoma(852;0.0525)	842					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2524C>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836111	0.71373	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98362	-4.89;-4.89;-4.89	4.9	4.9	0.64082	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	9	.	.	.	-27.5942	15.6055	0.76668	0.0:0.0:1.0:0.0	.	842	P11498	PYC_HUMAN	W	842	ENSP00000377527:R842W;ENSP00000377530:R842W;ENSP00000377532:R842W	.	R	-	1	2	PC	66374461	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.642000	0.46596	2.552000	0.86080	0.655000	0.94253	CGG		0.587	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		4	86	0	0	0	1	0	4	86				
OTOL1	131149	broad.mit.edu	37	3	161214885	161214885	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:161214885T>A	ENST00000327928.4	+	1	290	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	97						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGCTGATTTCTTTTTGAAT	0.448																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(289-291)tTc>tAc		otolin 1							149.0	142.0	144.0					3																	161214885		1858	4105	5963	SO:0001583	missense	131149					collagen		g.chr3:161214885T>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.290T>A	3.37:g.161214885T>A	ENSP00000330808:p.Phe97Tyr						p.F97Y	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			1	290	+			97						Missense_Mutation	SNP	ENST00000327928.4	37	c.290T>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680333	0.14907	.	.	ENSG00000182447	ENST00000327928	D	0.90788	-2.73	5.66	4.5	0.54988	.	0.102804	0.64402	D	0.000001	D	0.87830	0.6276	L	0.34521	1.04	0.26327	N	0.977572	D	0.71674	0.998	P	0.57101	0.813	T	0.77643	-0.2511	10	0.05959	T	0.93	.	9.8069	0.40799	0.0:0.0809:0.0:0.9191	.	97	A6NHN0	OTOL1_HUMAN	Y	97	ENSP00000330808:F97Y	ENSP00000330808:F97Y	F	+	2	0	OTOL1	162697579	1.000000	0.71417	0.166000	0.22797	0.047000	0.14425	2.682000	0.46934	0.984000	0.38629	-0.263000	0.10527	TTC		0.448	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		49	83	0	0	0	1	0	49	83				
PCDHB8	56128	broad.mit.edu	37	5	140559051	140559051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140559051G>A	ENST00000239444.2	+	1	1681	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACAGAGACTCGGGC	0.652																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1435-1437)aGa>aAa									82.0	127.0	112.0					5																	140559051		2202	4294	6496	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559051G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1436G>A	5.37:g.140559051G>A	ENSP00000239444:p.Arg479Lys						p.R479K	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1681	+			479			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1436G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072008	0.20147	.	.	ENSG00000120322	ENST00000239444	T	0.01705	4.68	4.22	-1.6	0.08426	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01800	0.0057	L	0.27975	0.815	0.09310	N	1	P	0.42203	0.773	B	0.43155	0.41	T	0.40627	-0.9553	9	0.10636	T	0.68	.	13.455	0.61193	0.0:0.627:0.1762:0.1968	.	479	Q9UN66	PCDB8_HUMAN	K	479	ENSP00000239444:R479K	ENSP00000239444:R479K	R	+	2	0	PCDHB8	140539235	0.000000	0.05858	0.179000	0.23059	0.879000	0.50718	-0.144000	0.10280	-0.830000	0.04262	0.298000	0.19748	AGA		0.652	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		53	373	0	0	0	1	0	53	373				
FRY	10129	broad.mit.edu	37	13	32691487	32691487	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr13:32691487G>T	ENST00000380250.3	+	4	837	c.341G>T	c.(340-342)aGc>aTc	p.S114I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	114						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTCAATGAGCTCCCTTTCT	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(340-342)aGc>aTc		furry homolog (Drosophila)							89.0	84.0	86.0					13																	32691487		1907	4137	6044	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32691487G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.341G>T	13.37:g.32691487G>T	ENSP00000369600:p.Ser114Ile						p.S114I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	4	837	+		Lung SC(185;0.0271)	114					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.341G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561664	0.86335	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.25250	1.81	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.54173	-0.8333	10	0.87932	D	0	.	18.9435	0.92612	0.0:0.0:1.0:0.0	.	114	Q5TBA9	FRY_HUMAN	I	114;111;80	ENSP00000369600:S114I	ENSP00000267067:S80I	S	+	2	0	FRY	31589487	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.311000	0.96282	2.533000	0.85409	0.655000	0.94253	AGC		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		15	11	1	0	6.31663e-08	1	6.74071e-08	15	11				
SEPT3	55964	broad.mit.edu	37	22	42390716	42390716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42390716C>G	ENST00000396426.3	+	10	1264	c.1009C>G	c.(1009-1011)Ccg>Gcg	p.P337A	SEPT3_ENST00000396425.3_Missense_Mutation_p.P337A|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.P273A|SEPT3_ENST00000291236.11_Missense_Mutation_p.P273A	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	337					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGGCCTCCCTCCGGTGAGCGT	0.532																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(1009-1011)Ccg>Gcg		septin 3							154.0	118.0	130.0					22																	42390716		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42390716C>G	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.1009C>G	22.37:g.42390716C>G	ENSP00000379704:p.Pro337Ala					SEPT3_ENST00000291236.11_Missense_Mutation_p.P273A|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.P273A|SEPT3_ENST00000396426.3_Missense_Mutation_p.P337A	p.P337A	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			10	1140	+			337					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.1009C>G	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692396	0.68271	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.49139	0.79;0.8;0.79;0.8	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000012	T	0.33990	0.0882	N	0.13235	0.315	0.80722	D	1	P;B;P;P;P	0.41102	0.478;0.002;0.478;0.738;0.62	B;B;B;B;B	0.39465	0.066;0.002;0.158;0.3;0.22	T	0.08452	-1.0721	10	0.17832	T	0.49	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	273;324;273;337;337	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	A	337;273;337;273	ENSP00000379704:P337A;ENSP00000383956:P273A;ENSP00000379703:P337A;ENSP00000291236:P273A	ENSP00000291236:P273A	P	+	1	0	SEPT3	40720662	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.833000	0.69349	2.678000	0.91216	0.448000	0.29417	CCG		0.532	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		24	68	0	0	0	1	0	24	68				
SCAND1	51282	broad.mit.edu	37	20	34542206	34542206	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:34542206T>A	ENST00000373991.3	-	3	1071	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SCAND1_ENST00000305978.2_Start_Codon_SNP_p.M1L			P57086	SCND1_HUMAN	SCAN domain containing 1	1					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					GTAGCCGCCATAACTCCAGCT	0.652																																						ENST00000373991.3																			0											c.(1-3)Atg>Ttg		SCAN domain containing 1							17.0	21.0	19.0					20																	34542206		2109	4089	6198	SO:0001582	initiator_codon_variant	51282				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:34542206T>A	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"""-"""	10566	protein-coding gene	gene with protein product		610416	"""SCAN domain-containing 1"""			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.1A>T	20.37:g.34542206T>A	ENSP00000363103:p.Met1Leu					SCAND1_ENST00000305978.2_Start_Codon_SNP_p.M1L	p.M1L			P57086	SCND1_HUMAN			3	1071	-	Breast(12;0.00631)|all_lung(11;0.0233)		1					Q6IAG7	Translation_Start_Site	SNP	ENST00000373991.3	37	c.1A>T	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240162	0.58995	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.08193	3.12;3.12	5.0	2.67	0.31697	.	.	.	.	.	T	0.06554	0.0168	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23119	-1.0197	8	0.87932	D	0	.	3.8082	0.08786	0.1893:0.1005:0.0:0.7102	.	1	P57086	SCND1_HUMAN	L	1	ENSP00000301995:M1L;ENSP00000363103:M1L	ENSP00000301995:M1L	M	-	1	0	SCAND1	34005620	0.007000	0.16637	0.497000	0.27552	0.057000	0.15508	0.913000	0.28611	0.813000	0.34350	0.533000	0.62120	ATG		0.652	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078958.2	NM_016558	Missense_Mutation	8	37	0	0	0	1	0	8	37				
SOWAHC	65124	broad.mit.edu	37	2	110373228	110373228	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:110373228G>C	ENST00000356454.3	+	1	1318	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	388																	GAGCATCGCCGAGGAGATCAA	0.647																																						ENST00000356454.3																			0											c.(1162-1164)Gag>Cag		sosondowah ankyrin repeat domain family member C							41.0	50.0	47.0					2																	110373228		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373228G>C	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1162G>C	2.37:g.110373228G>C	ENSP00000365830:p.Glu388Gln						p.E388Q	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1318	+			388					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1162G>C	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895580	0.33442	.	.	ENSG00000198142	ENST00000356454	T	0.46451	0.87	4.57	4.57	0.56435	Ankyrin repeat-containing domain (2);	0.391386	0.22113	N	0.064442	T	0.43322	0.1242	L	0.33189	0.99	0.20074	N	0.999933	D	0.64830	0.994	P	0.57960	0.83	T	0.21861	-1.0233	10	0.11485	T	0.65	-20.7337	12.46	0.55727	0.0:0.1686:0.8314:0.0	.	388	Q53LP3	ANR57_HUMAN	Q	388	ENSP00000365830:E388Q	ENSP00000365830:E388Q	E	+	1	0	ANKRD57	109730517	1.000000	0.71417	0.938000	0.37757	0.070000	0.16714	4.523000	0.60545	2.385000	0.81259	0.650000	0.86243	GAG		0.647	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		11	51	0	0	0	1	0	11	51				
TRRAP	8295	broad.mit.edu	37	7	98527677	98527677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:98527677G>C	ENST00000359863.4	+	24	3450	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1081Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1080Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1081					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACAGTGAAGAAAATGGCTC	0.488																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3241-3243)Gaa>Caa		transformation/transcription domain-associated protein							129.0	122.0	125.0					7																	98527677		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98527677G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3241G>C	7.37:g.98527677G>C	ENSP00000352925:p.Glu1081Gln					TRRAP_ENST00000355540.3_Missense_Mutation_p.E1081Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1080Q	p.E1081Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		24	3450	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1081					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3241G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.567484|2.567484	0.45694|0.45694	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.67698|.	-0.28;-0.28|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.22414|.	0.069;0.035;0.041|.	B;B;B|.	0.17433|.	0.018;0.004;0.008|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.13853|.	T|.	0.58|.	.|.	19.4787|19.4787	0.95000|0.95000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1081;795;1081|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|N	1081;1081;1079|795	ENSP00000352925:E1081Q;ENSP00000347733:E1081Q|.	ENSP00000347733:E1081Q|.	E|K	+|+	1|3	0|2	TRRAP|TRRAP	98365613|98365613	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.831000|0.831000	0.47069|0.47069	9.286000|9.286000	0.95898|0.95898	2.681000|2.681000	0.91329|0.91329	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		24	195	0	0	0	1	0	24	195				
LRP1B	53353	broad.mit.edu	37	2	141201939	141201939	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:141201939C>T	ENST00000389484.3	-	65	11225	c.10254G>A	c.(10252-10254)ggG>ggA	p.G3418G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3418	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCATCTTGCCCATTACATC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10252-10254)ggG>ggA		low density lipoprotein receptor-related protein 1B							219.0	203.0	209.0					2																	141201939		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201939C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10254G>A	2.37:g.141201939C>T		TSP Lung(27;0.18)					p.G3418G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	65	11225	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3418			LDL-receptor class A 23.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10254G>A	CCDS2182.1																																																																																				0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	53	0	0	0	1	0	12	53				
KCNH8	131096	broad.mit.edu	37	3	19554770	19554770	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:19554770G>A	ENST00000328405.2	+	13	2654	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	796					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTGAAATTGCAACTTTCAA	0.428																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2386-2388)ttG>ttA		potassium voltage-gated channel, subfamily H (eag-related), member 8							90.0	94.0	93.0					3																	19554770		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19554770G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2388G>A	3.37:g.19554770G>A							p.L796L	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			13	2654	+			796					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.2388G>A	CCDS2632.1																																																																																				0.428	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		37	35	0	0	0	1	0	37	35				
ATP13A5	344905	broad.mit.edu	37	3	193068949	193068949	+	Silent	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193068949A>T	ENST00000342358.4	-	7	765	c.648T>A	c.(646-648)acT>acA	p.T216T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAGCCACAAAGTTAGGGTGA	0.408																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(646-648)acT>acA		ATPase type 13A5							139.0	130.0	133.0					3																	193068949		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193068949A>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.648T>A	3.37:g.193068949A>T							p.T216T	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	7	765	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		216					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.648T>A	CCDS33914.1																																																																																				0.408	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		10	88	0	0	0	1	0	10	88				
KIR3DL1	3811	broad.mit.edu	37	19	55286721	55286721	+	Intron	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:55286721C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H159Y|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.H159Y|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGACATGTACCATCTATCCAG	0.587																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(475-477)Cat>Tat		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							64.0	69.0	68.0					19																	55286721		2043	4017	6060	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286721C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42268C>T	19.37:g.55286721C>T						KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H159Y|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	p.H159Y	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	515	+			159			Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.475C>T		.	.	.	.	.	.	.	.	.	.	C	10.39	1.337963	0.24253	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.19938	2.11;2.11	1.1	1.1	0.20463	.	.	.	.	.	T	0.34513	0.0900	M	0.89715	3.055	0.09310	N	1	P;P	0.42337	0.776;0.745	P;B	0.45610	0.487;0.299	T	0.27640	-1.0068	9	0.87932	D	0	.	5.5929	0.17311	0.0:1.0:0.0:0.0	.	159;159	Q6IST4;Q6H2H3	.;.	Y	159	ENSP00000336769:H159Y;ENSP00000291633:H159Y	ENSP00000291633:H159Y	H	+	1	0	KIR2DL1	59978533	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.214000	0.02988	0.924000	0.37069	0.184000	0.17185	CAT		0.587	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		29	34	0	0	0	1	0	29	34				
NHP2L1	4809	broad.mit.edu	37	22	42076365	42076365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42076365C>T	ENST00000401959.1	-	3	323	c.7G>A	c.(7-9)Gag>Aag	p.E3K	NHP2L1_ENST00000355257.3_Missense_Mutation_p.E3K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E3K|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E7K|NHP2L1_ENST00000463675.1_5'UTR|RNU6-476P_ENST00000384726.1_RNA	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	3					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						ACATCAGCCTCAGTCTATGGG	0.473																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(7-9)Gag>Aag		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							67.0	61.0	63.0					22																	42076365		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42076365C>T		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.7G>A	22.37:g.42076365C>T	ENSP00000383949:p.Glu3Lys					NHP2L1_ENST00000402458.1_Missense_Mutation_p.E7K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E3K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E3K	p.E3K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			3	323	-			3						Missense_Mutation	SNP	ENST00000401959.1	37	c.7G>A	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028931	0.75504	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.25	5.25	0.73442	.	0.046887	0.85682	D	0.000000	T	0.48607	0.1509	L	0.46157	1.445	0.80722	D	1	B	0.18310	0.027	B	0.10450	0.005	T	0.37502	-0.9703	10	0.23891	T	0.37	.	19.2807	0.94051	0.0:1.0:0.0:0.0	.	3	P55769	NH2L1_HUMAN	K	3;3;3;7	ENSP00000347401:E3K;ENSP00000215956:E3K;ENSP00000383949:E3K;ENSP00000383989:E7K	ENSP00000215956:E3K	E	-	1	0	NHP2L1	40406311	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.403000	0.79983	2.634000	0.89283	0.650000	0.86243	GAG		0.473	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		6	62	0	0	0	1	0	6	62				
BTN3A1	11119	broad.mit.edu	37	6	26409843	26409843	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:26409843C>T	ENST00000289361.6	+	5	1166	c.798C>T	c.(796-798)gcC>gcT	p.A266A	BTN3A1_ENST00000425234.2_Silent_p.A266A|BTN3A1_ENST00000476549.2_Silent_p.A266A|BTN3A1_ENST00000414912.2_Silent_p.A214A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	266					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A266A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGGGGGAGCCGGTTACTTCC	0.552																																						ENST00000289361.6																			1	Substitution - coding silent(1)	p.A266A(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(796-798)gcC>gcT		butyrophilin, subfamily 3, member A1							63.0	70.0	68.0					6																	26409843		2203	4300	6503	SO:0001819	synonymous_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26409843C>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.798C>T	6.37:g.26409843C>T						BTN3A1_ENST00000425234.2_Silent_p.A266A|BTN3A1_ENST00000414912.2_Silent_p.A214A|BTN3A1_ENST00000476549.2_Silent_p.A266A	p.A266A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			5	1166	+			266					A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.798C>T	CCDS4608.1																																																																																				0.552	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			12	80	0	0	0	1	0	12	80				
ANPEP	290	broad.mit.edu	37	15	90348580	90348580	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90348580C>T	ENST00000300060.6	-	3	1042	c.729G>A	c.(727-729)ctG>ctA	p.L243L	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	243	Metalloprotease.		L -> P. {ECO:0000269|PubMed:9452074}.		angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ACAGGGCTGTCAGGTCCTTGG	0.642																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(727-729)ctG>ctA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						156.0	144.0	148.0					15																	90348580		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348580C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.729G>A	15.37:g.90348580C>T							p.L243L	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		3	1042	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		243		L -> P.	Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.729G>A	CCDS10356.1																																																																																				0.642	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			8	65	0	0	0	1	0	8	65				
GRIA3	2892	broad.mit.edu	37	X	122599621	122599621	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:122599621C>T	ENST00000371251.1	+	14	2473	c.2421C>T	c.(2419-2421)agC>agT	p.S807S	GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000264357.5_Silent_p.S807S|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Silent_p.S807S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	807					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGTGCGGCAGCGGGGGCGGTG	0.478																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2419-2421)agC>agT		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						71.0	63.0	66.0					X																	122599621		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122599621C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2421C>T	X.37:g.122599621C>T						GRIA3_ENST00000371251.1_Silent_p.S807S|GRIA3_ENST00000542149.1_Silent_p.S807S|GRIA3_ENST00000371256.5_Intron	p.S807S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			14	2713	+			807					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2421C>T	CCDS14604.1																																																																																				0.478	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		4	42	0	0	0	1	0	4	42				
H2AFY	9555	broad.mit.edu	37	5	134678905	134678905	+	Intron	SNP	G	G	A	rs369964335		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:134678905G>A	ENST00000511689.1	-	8	1547				H2AFY_ENST00000312469.4_Intron|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.E63K|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCGCAGAGAGACACAC	0.532																																						ENST00000432382.3																			0											c.(187-189)Gag>Aag									103.0	95.0	98.0					5																	134678905		2203	4300	6503	SO:0001627	intron_variant	100996485							g.chr5:134678905G>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.953+44C>T	5.37:g.134678905G>A						CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000312469.4_Intron	p.E63K	NM_001277348.1	NP_001264277.1					6	1009	+								O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.187G>A	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847617	0.32606	.	.	ENSG00000224186	ENST00000432382	.	.	.	3.57	0.569	0.17340	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37686	-0.9695	5	0.87932	D	0	.	6.2179	0.20665	0.1188:0.3819:0.4993:0.0	.	.	.	.	K	63	.	ENSP00000402151:E63K	E	+	1	0	CTC-203F4.1	134706804	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.584000	0.05800	0.090000	0.17273	0.313000	0.20887	GAG		0.532	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		17	51	0	0	0	1	0	17	51				
PLIN2	123	broad.mit.edu	37	9	19126394	19126394	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:19126394C>G	ENST00000276914.2	-	2	210		c.e2+1		PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAAATTCATACCGGTTGTGGA	0.418																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.e2+1		perilipin 2							111.0	111.0	111.0					9																	19126394		2203	4300	6503	SO:0001630	splice_region_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19126394C>G	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.30+1G>C	9.37:g.19126394C>G						PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site		NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			2	210	-								Q9BSC3	Splice_Site	SNP	ENST00000276914.2	37		CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792476	0.70452	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1449	0.86764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLIN2	19116394	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.443000	0.66581	2.469000	0.83416	0.561000	0.74099	.		0.418	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	Intron	30	42	0	0	0	1	0	30	42				
CDC42BPB	9578	broad.mit.edu	37	14	103414104	103414104	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:103414104G>A	ENST00000361246.2	-	27	3773	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AATGACATCTGAGGCCAGGAC	0.463																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3484-3486)tCa>tTa		CDC42 binding protein kinase beta (DMPK-like)							117.0	113.0	114.0					14																	103414104		2201	4296	6497	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103414104G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3485C>T	14.37:g.103414104G>A	ENSP00000355237:p.Ser1162Leu						p.S1162L	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	27	3773	-		Melanoma(154;0.155)	1162			PH.			Missense_Mutation	SNP	ENST00000361246.2	37	c.3485C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469241	0.96274	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.40476	1.03	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.191531	0.47852	D	0.000204	T	0.68081	0.2962	M	0.88842	2.985	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.55615	0.721;0.78	T	0.73196	-0.4059	10	0.87932	D	0	.	20.092	0.97823	0.0:0.0:1.0:0.0	.	1162;1162	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	L	1162;273	ENSP00000355237:S1162L	ENSP00000355237:S1162L	S	-	2	0	CDC42BPB	102483857	1.000000	0.71417	0.875000	0.34327	0.972000	0.66771	9.386000	0.97228	2.828000	0.97474	0.644000	0.83932	TCA		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		23	106	0	0	0	1	0	23	106				
GFOD2	81577	broad.mit.edu	37	16	67709410	67709410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:67709410C>T	ENST00000268797.7	-	3	1151	c.806G>A	c.(805-807)gGg>gAg	p.G269E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	269					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTTCTTCTGCCCATAGAGGTC	0.627																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(805-807)gGg>gAg		glucose-fructose oxidoreductase domain containing 2							45.0	42.0	43.0					16																	67709410		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709410C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.806G>A	16.37:g.67709410C>T	ENSP00000268797:p.Gly269Glu					GFOD2_ENST00000602377.1_5'UTR	p.G269E	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1151	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	269					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.806G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972893	0.74246	.	.	ENSG00000141098	ENST00000268797	T	0.38887	1.11	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.50092	-0.8868	10	0.27785	T	0.31	-34.1525	18.8749	0.92331	0.0:1.0:0.0:0.0	.	269	Q3B7J2	GFOD2_HUMAN	E	269	ENSP00000268797:G269E	ENSP00000268797:G269E	G	-	2	0	GFOD2	66266911	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.895000	0.69814	2.625000	0.88918	0.557000	0.71058	GGG		0.627	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		9	63	0	0	0	1	0	9	63				
DDX24	57062	broad.mit.edu	37	14	94546080	94546080	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:94546080C>A	ENST00000330836.5	-	2	140	c.9G>T	c.(7-9)ttG>ttT	p.L3F	IFI27L1_ENST00000557066.1_5'Flank|DDX24_ENST00000555054.1_Intron|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	3					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTGTGTCCTTCAACTTCATGG	0.413																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(7-9)ttG>ttT		DEAD (Asp-Glu-Ala-Asp) box helicase 24							160.0	165.0	163.0					14																	94546080		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94546080C>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.9G>T	14.37:g.94546080C>A	ENSP00000328690:p.Leu3Phe					DDX24_ENST00000555054.1_Intron|DDX24_ENST00000544005.1_Intron	p.L3F	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	140	-		all_cancers(154;0.12)	3					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.9G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550698	0.45383	.	.	ENSG00000089737	ENST00000330836;ENST00000440370	T	0.03607	3.87	5.61	5.61	0.85477	.	0.619895	0.17541	N	0.170524	T	0.03783	0.0107	L	0.36672	1.1	0.80722	D	1	P	0.39216	0.664	B	0.33568	0.166	T	0.45205	-0.9277	10	0.62326	D	0.03	-0.5455	9.7044	0.40207	0.0:0.7751:0.1446:0.0804	.	3	Q9GZR7	DDX24_HUMAN	F	3	ENSP00000328690:L3F	ENSP00000328690:L3F	L	-	3	2	DDX24	93615833	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	1.514000	0.35834	2.809000	0.96659	0.555000	0.69702	TTG		0.413	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		102	103	1	0	5.19218e-38	1	6.12515e-38	102	103				
THADA	63892	broad.mit.edu	37	2	43520026	43520026	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:43520026C>G	ENST00000405006.4	-	32	5116	c.4765G>C	c.(4765-4767)Gag>Cag	p.E1589Q	THADA_ENST00000415080.2_Missense_Mutation_p.E1270Q|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.E1589Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1589										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAGAACTTCTCTCCCATGTTG	0.502																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4765-4767)Gag>Cag		thyroid adenoma associated							49.0	49.0	49.0					2																	43520026		1971	4151	6122	SO:0001583	missense	63892						binding	g.chr2:43520026C>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4765G>C	2.37:g.43520026C>G	ENSP00000385995:p.Glu1589Gln					THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.E1270Q|THADA_ENST00000405975.2_Missense_Mutation_p.E1589Q	p.E1589Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			32	5116	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1589					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4765G>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.025023|2.025023	0.35701|0.35701	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.67698	.|-0.28;-0.28;-0.28	5.76|5.76	3.93|3.93	0.45458|0.45458	.|.	0.788418|0.788418	0.12182|0.12182	N|N	0.491965|0.491965	T|T	0.48059|0.48059	0.1479|0.1479	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;B	.|0.37781	.|0.608;0.361	.|B;B	.|0.35182	.|0.197;0.143	T|T	0.19386|0.19386	-1.0307|-1.0307	6|10	.|0.15499	.|T	.|0.54	.|.	8.769|8.769	0.34719|0.34719	0.0:0.7681:0.1517:0.0802|0.0:0.7681:0.1517:0.0802	.|.	.|1516;1589	.|B6ZDQ0;Q6YHU6	.|.;THADA_HUMAN	D|Q	828|1589;1516;1270;1589	.|ENSP00000386088:E1589Q;ENSP00000416048:E1270Q;ENSP00000385995:E1589Q	.|ENSP00000349464:E1516Q	E|E	-|-	3|1	2|0	THADA|THADA	43373530|43373530	0.053000|0.053000	0.20554|0.20554	0.048000|0.048000	0.18961|0.18961	0.952000|0.952000	0.60782|0.60782	1.923000|1.923000	0.40055|0.40055	0.765000|0.765000	0.33221|0.33221	0.650000|0.650000	0.86243|0.86243	GAG|GAG		0.502	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		11	58	0	0	0	1	0	11	58				
ZNF260	339324	broad.mit.edu	37	19	37005172	37005172	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:37005172C>G	ENST00000523638.1	-	3	2090	c.969G>C	c.(967-969)gtG>gtC	p.V323V	ZNF260_ENST00000593142.1_Silent_p.V323V|ZNF260_ENST00000592282.1_Silent_p.V323V|ZNF260_ENST00000588993.1_Silent_p.V323V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	323					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGAATTCTCACATGTACAA	0.388																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(967-969)gtG>gtC		zinc finger protein 260							119.0	109.0	113.0					19																	37005172		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005172C>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.969G>C	19.37:g.37005172C>G						ZNF260_ENST00000593142.1_Silent_p.V323V|ZNF260_ENST00000592282.1_Silent_p.V323V|ZNF260_ENST00000588993.1_Silent_p.V323V	p.V323V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	2090	-	Esophageal squamous(110;0.162)		323					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.969G>C	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		6	79	0	0	0	1	0	6	79				
ACSF3	197322	broad.mit.edu	37	16	89167169	89167169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:89167169G>T	ENST00000317447.4	+	3	457	c.80G>T	c.(79-81)aGa>aTa	p.R27I	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R27I	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	27					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCGAGACACAGAGGAAGTGGT	0.687																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(79-81)aGa>aTa		acyl-CoA synthetase family member 3							20.0	23.0	22.0					16																	89167169		2191	4292	6483	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167169G>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.80G>T	16.37:g.89167169G>T	ENSP00000320646:p.Arg27Ile					ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R27I	p.R27I	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	457	+			27					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.80G>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365912	0.41902	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.56611	0.88;0.45;0.88	4.73	1.17	0.20885	.	1.034710	0.07667	N	0.934762	T	0.39172	0.1068	L	0.46157	1.445	0.09310	N	0.999999	B	0.28128	0.201	B	0.21360	0.034	T	0.32719	-0.9896	10	0.39692	T	0.17	-0.1046	1.6988	0.02868	0.2838:0.1409:0.4315:0.1438	.	27	Q4G176	ACSF3_HUMAN	I	27	ENSP00000320646:R27I;ENSP00000440734:R27I;ENSP00000384627:R27I	ENSP00000320646:R27I	R	+	2	0	ACSF3	87694670	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.028000	0.12350	0.445000	0.26639	0.650000	0.86243	AGA		0.687	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		11	46	1	0	2.68362e-12	1	2.95786e-12	11	46				
TCP10L	140290	broad.mit.edu	37	21	33954617	33954617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr21:33954617G>A	ENST00000300258.3	-	3	366	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	TCP10L_ENST00000472557.1_5'UTR|AP000275.65_ENST00000553001.1_Nonsense_Mutation_p.Q259*	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	85	Leucine-zipper.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCATGTTCTGCTCCCTCAAA	0.542																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(253-255)Cag>Tag		t-complex 10-like							101.0	99.0	99.0					21																	33954617		2203	4300	6503	SO:0001587	stop_gained	140290							g.chr21:33954617G>A	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.253C>T	21.37:g.33954617G>A	ENSP00000300258:p.Gln85*					TCP10L_ENST00000491828.1_5'UTR	p.Q85*	NM_144659.5	NP_653260.1					3	366	-								Q53EW0|Q96LN5	Nonsense_Mutation	SNP	ENST00000300258.3	37	c.253C>T	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434274	0.25813	.	.	ENSG00000242220;ENSG00000159079	ENST00000300258;ENST00000553001	.	.	.	0.591	0.591	0.17465	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	.	.	.	.	.	.	.	X	85;259	.	ENSP00000446874:Q259X	Q	-	1	0	C21orf59;TCP10L	32876488	0.360000	0.24964	0.011000	0.14972	0.006000	0.05464	0.111000	0.15458	0.558000	0.29135	0.411000	0.27672	CAG		0.542	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		26	89	0	0	0	1	0	26	89				
MUC16	94025	broad.mit.edu	37	19	9061573	9061573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:9061573C>T	ENST00000397910.4	-	3	26076	c.25873G>A	c.(25873-25875)Gaa>Aaa	p.E8625K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8627	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						GCTAATATTTCAGCTGAGGTG	0.453																																						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.(25873-25875)Gaa>Aaa		mucin 16, cell surface associated							138.0	130.0	133.0					19																	9061573		1953	4156	6109	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061573C>T	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.25873G>A	19.37:g.9061573C>T	ENSP00000381008:p.Glu8625Lys						p.E8625K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26076	-			8627			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25873G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.882	0.730359	0.15507	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.23	-3.56	0.04626	.	.	.	.	.	T	0.17152	0.0412	L	0.34521	1.04	.	.	.	B	0.16603	0.018	B	0.15052	0.012	T	0.32903	-0.9889	8	0.87932	D	0	.	0.4593	0.00513	0.1926:0.3384:0.1902:0.2787	.	8625	B5ME49	.	K	8625	ENSP00000381008:E8625K	ENSP00000381008:E8625K	E	-	1	0	MUC16	8922573	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.909000	0.04058	-0.746000	0.04766	0.450000	0.29827	GAA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	55	0	0	0	1	0	24	55				
DICER1	23405	broad.mit.edu	37	14	95582918	95582918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:95582918C>T	ENST00000526495.1	-	12	1915	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	DICER1_ENST00000527414.1_Missense_Mutation_p.E542K|DICER1_ENST00000343455.3_Missense_Mutation_p.E542K|DICER1_ENST00000393063.1_Missense_Mutation_p.E542K|DICER1_ENST00000541352.1_Missense_Mutation_p.E542K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	542	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATCGATATTCTGTGGGCAAA	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1624-1626)Gaa>Aaa		dicer 1, ribonuclease type III							157.0	168.0	164.0					14																	95582918		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582918C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1624G>A	14.37:g.95582918C>T	ENSP00000437256:p.Glu542Lys					DICER1_ENST00000393063.1_Missense_Mutation_p.E542K|DICER1_ENST00000541352.1_Missense_Mutation_p.E542K|DICER1_ENST00000343455.3_Missense_Mutation_p.E542K|DICER1_ENST00000527414.1_Missense_Mutation_p.E542K	p.E542K			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	12	1915	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	542			Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1624G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426359	0.83667	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.12	5.12	0.69794	Helicase, C-terminal (3);	0.090301	0.85682	D	0.000000	T	0.77579	0.4151	N	0.20986	0.625	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.80197	-0.1482	10	0.54805	T	0.06	-23.3614	18.5722	0.91140	0.0:1.0:0.0:0.0	.	542	Q9UPY3	DICER_HUMAN	K	542	ENSP00000343745:E542K;ENSP00000437256:E542K;ENSP00000376783:E542K;ENSP00000435681:E542K;ENSP00000444719:E542K	ENSP00000343745:E542K	E	-	1	0	DICER1	94652671	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.786000	0.85741	2.382000	0.81193	0.462000	0.41574	GAA		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			13	133	0	0	0	1	0	13	133				
NLRP14	338323	broad.mit.edu	37	11	7065134	7065134	+	Missense_Mutation	SNP	G	G	T	rs569899906		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:7065134G>T	ENST00000299481.4	+	4	2223	c.1877G>T	c.(1876-1878)cGg>cTg	p.R626L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	626					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGCACTGCCGGTGTTTGCGG	0.413																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1876-1878)cGg>cTg		NLR family, pyrin domain containing 14							103.0	106.0	105.0					11																	7065134		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7065134G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1877G>T	11.37:g.7065134G>T	ENSP00000299481:p.Arg626Leu						p.R626L	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	2223	+			626					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1877G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.161002	0.21538	.	.	ENSG00000158077	ENST00000299481	D	0.88354	-2.37	4.2	-2.5	0.06384	.	1.248380	0.05616	N	0.578988	D	0.85256	0.5655	L	0.59912	1.85	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.68055	-0.5510	10	0.32370	T	0.25	.	9.46	0.38778	0.4233:0.0:0.5767:0.0	.	626	Q86W24	NAL14_HUMAN	L	626	ENSP00000299481:R626L	ENSP00000299481:R626L	R	+	2	0	NLRP14	7021710	0.000000	0.05858	0.013000	0.15412	0.033000	0.12548	-0.331000	0.07914	-0.467000	0.06932	-0.768000	0.03414	CGG		0.413	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		32	40	1	0	7.68411e-24	1	8.8912e-24	32	40				
CPT1A	1374	broad.mit.edu	37	11	68579925	68579925	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:68579925G>T	ENST00000265641.5	-	3	415	c.261C>A	c.(259-261)atC>atA	p.I87I	CPT1A_ENST00000539743.1_Silent_p.I87I|CPT1A_ENST00000540367.1_Silent_p.I87I|CPT1A_ENST00000376618.2_Silent_p.I87I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	87					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGTCCGATTGATTTTTGCAA	0.458																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(259-261)atC>atA		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						171.0	157.0	162.0					11																	68579925		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68579925G>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.261C>A	11.37:g.68579925G>T						CPT1A_ENST00000376618.2_Silent_p.I87I|CPT1A_ENST00000540367.1_Silent_p.I87I|CPT1A_ENST00000539743.1_Silent_p.I87I	p.I87I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		3	415	-	Esophageal squamous(3;3.28e-14)		87					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.261C>A	CCDS8185.1																																																																																				0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		72	51	1	0	4.8811e-34	1	5.73577e-34	72	51				
RIC1	57589	broad.mit.edu	37	9	5765456	5765456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:5765456C>G	ENST00000414202.2	+	20	3075	c.2884C>G	c.(2884-2886)Cta>Gta	p.L962V	KIAA1432_ENST00000381532.2_Missense_Mutation_p.L883V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L846V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L883V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L962V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCTACCCTTCTATTCAACAC	0.418																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2884-2886)Cta>Gta		KIAA1432							174.0	158.0	163.0					9																	5765456		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765456C>G																												ENST00000414202.2:c.2884C>G	9.37:g.5765456C>G	ENSP00000416696:p.Leu962Val					KIAA1432_ENST00000449720.2_Missense_Mutation_p.L846V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L883V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L883V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L962V	p.L962V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	3075	+		Acute lymphoblastic leukemia(23;0.154)	962						Missense_Mutation	SNP	ENST00000414202.2	37	c.2884C>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157280|4.157280	0.78114|0.78114	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.17|6.17	5.28|5.28	0.74379|0.74379	Ribosome control protein 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80518|0.80518	0.4638|0.4638	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.997|.	D|D	0.84062|0.84062	0.0375|0.0375	9|5	0.59425|.	D|.	0.04|.	-11.1587|-11.1587	15.4435|15.4435	0.75208|0.75208	0.0:0.9342:0.0:0.0658|0.0:0.9342:0.0:0.0658	.|.	846;883;962;962|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	V|C	962;962;883;883;846|853	.|.	ENSP00000251879:L962V|.	L|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5755456|5755456	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.840000|0.840000	0.47671|0.47671	5.783000|5.783000	0.68982|0.68982	1.633000|1.633000	0.50488|0.50488	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.418	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			20	64	0	0	0	1	0	20	64				
ZNF319	57567	broad.mit.edu	37	16	58031159	58031159	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031159G>A	ENST00000299237.2	-	2	1633	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTCGGCGCTGTGTGTGCGCT	0.682																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1009-1011)caC>caT		zinc finger protein 319							40.0	37.0	38.0					16																	58031159		2198	4300	6498	SO:0001819	synonymous_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031159G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1011C>T	16.37:g.58031159G>A							p.H337H	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1633	-			337					Q52LH8	Silent	SNP	ENST00000299237.2	37	c.1011C>T	CCDS32462.1																																																																																				0.682	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			22	20	0	0	0	1	0	22	20				
KIF20B	9585	broad.mit.edu	37	10	91483766	91483766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91483766G>A	ENST00000371728.3	+	14	1833	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.E590K|KIF20B_ENST00000416354.1_Missense_Mutation_p.E590K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E590K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	590					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTGATAAATGAAAAAAAGGA	0.284																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1768-1770)Gaa>Aaa		kinesin family member 20B							44.0	53.0	50.0					10																	91483766		2190	4292	6482	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483766G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1768G>A	10.37:g.91483766G>A	ENSP00000360793:p.Glu590Lys					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.E590K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E590K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E590K	p.E590K			Q96Q89	KI20B_HUMAN			14	1840	+			590					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1768G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.658922	0.96734	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.8	5.8	0.92144	.	0.000000	0.52532	D	0.000061	T	0.66626	0.2808	M	0.75264	2.295	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.74348	0.963;0.983	T	0.64554	-0.6380	10	0.45353	T	0.12	-22.4588	20.0503	0.97624	0.0:0.0:1.0:0.0	.	590;590	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	590	ENSP00000260753:E590K;ENSP00000411545:E590K;ENSP00000377830:E590K;ENSP00000360793:E590K	ENSP00000260753:E590K	E	+	1	0	KIF20B	91473746	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.565000	0.90730	2.736000	0.93811	0.591000	0.81541	GAA		0.284	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		6	53	0	0	0	1	0	6	53				
KIF13B	23303	broad.mit.edu	37	8	28974434	28974434	+	Missense_Mutation	SNP	C	C	G	rs561557672		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:28974434C>G	ENST00000524189.1	-	31	3789	c.3751G>C	c.(3751-3753)Gtg>Ctg	p.V1251L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1251					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTCACGCGCACGATCAGGAAC	0.602																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3751-3753)Gtg>Ctg		kinesin family member 13B							67.0	73.0	71.0					8																	28974434		2114	4232	6346	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28974434C>G	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3751G>C	8.37:g.28974434C>G	ENSP00000427900:p.Val1251Leu					CTD-2647L4.1_ENST00000523661.1_RNA	p.V1251L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	31	3789	-		Ovarian(32;0.000536)	1251					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3751G>C	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659354	0.47467	.	.	ENSG00000197892	ENST00000524189	T	0.80123	-1.34	5.16	4.26	0.50523	.	0.057202	0.64402	N	0.000001	T	0.72859	0.3513	L	0.42008	1.315	0.80722	D	1	B	0.18461	0.028	B	0.24006	0.05	T	0.66204	-0.5982	10	0.08381	T	0.77	.	15.5127	0.75795	0.0:0.8566:0.1434:0.0	.	1251	F8VPJ2	.	L	1251	ENSP00000427900:V1251L	ENSP00000427900:V1251L	V	-	1	0	KIF13B	29030353	0.972000	0.33761	0.998000	0.56505	0.869000	0.49853	2.356000	0.44116	1.369000	0.46134	0.650000	0.86243	GTG		0.602	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			6	96	0	0	0	1	0	6	96				
WNK4	65266	broad.mit.edu	37	17	40946994	40946994	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40946994C>G	ENST00000246914.5	+	14	2576	c.2555C>G	c.(2554-2556)tCa>tGa	p.S852*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	852					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGGTCTCCTCAAATCCCTCT	0.597																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2554-2556)tCa>tGa		WNK lysine deficient protein kinase 4							129.0	121.0	124.0					17																	40946994		2203	4300	6503	SO:0001587	stop_gained	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40946994C>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2555C>G	17.37:g.40946994C>G	ENSP00000246914:p.Ser852*						p.S852*	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	14	2576	+		Breast(137;0.000143)	852					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Nonsense_Mutation	SNP	ENST00000246914.5	37	c.2555C>G	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935850	0.73442	.	.	ENSG00000126562	ENST00000246914	.	.	.	5.78	3.74	0.42951	.	1.233990	0.06292	N	0.699323	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.0036	7.7553	0.28921	0.0:0.6691:0.1696:0.1613	.	.	.	.	X	852	.	ENSP00000246914:S852X	S	+	2	0	WNK4	38200520	0.002000	0.14202	0.010000	0.14722	0.210000	0.24377	1.584000	0.36589	0.839000	0.34971	0.591000	0.81541	TCA		0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			16	141	0	0	0	1	0	16	141				
CACNA2D4	93589	broad.mit.edu	37	12	2017122	2017122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:2017122C>G	ENST00000382722.5	-	5	930	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E126Q|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E126Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	190					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCATTGGACTCCAGGAGGAAC	0.592																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(568-570)Gag>Cag		calcium channel, voltage-dependent, alpha 2/delta subunit 4							55.0	60.0	58.0					12																	2017122		2133	4249	6382	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2017122C>G	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.568G>C	12.37:g.2017122C>G	ENSP00000372169:p.Glu190Gln					CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E126Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E126Q	p.E190Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	5	930	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	190					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.568G>C	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941072	0.53079	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.07688	3.17	5.23	4.33	0.51752	VWA N-terminal (1);	0.141627	0.64402	D	0.000006	T	0.22551	0.0544	M	0.64404	1.975	0.28028	N	0.934262	B;D	0.64830	0.171;0.994	B;D	0.65140	0.041;0.932	T	0.09796	-1.0658	10	0.19590	T	0.45	.	15.8109	0.78565	0.0:0.8634:0.1366:0.0	.	190;190	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	Q	126;190;190	ENSP00000372169:E190Q	ENSP00000280663:E190Q	E	-	1	0	CACNA2D4	1887383	1.000000	0.71417	0.132000	0.22025	0.606000	0.37113	7.477000	0.81069	1.317000	0.45149	0.561000	0.74099	GAG		0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			12	50	0	0	0	1	0	12	50				
ZNF774	342132	broad.mit.edu	37	15	90903702	90903702	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90903702G>A	ENST00000354377.3	+	4	825	c.639G>A	c.(637-639)gaG>gaA	p.E213E	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGGGTGTGAGAAGAAATTCA	0.517																																						ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(637-639)gaG>gaA		zinc finger protein 774							69.0	63.0	65.0					15																	90903702		2199	4298	6497	SO:0001819	synonymous_variant	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90903702G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.639G>A	15.37:g.90903702G>A						ZNF774_ENST00000379090.5_Intron	p.E213E	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	825	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		213					A8K020	Silent	SNP	ENST00000354377.3	37	c.639G>A	CCDS32330.1																																																																																				0.517	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		19	34	0	0	0	1	0	19	34				
PCDHGC5	56097	broad.mit.edu	37	5	140869424	140869424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140869424C>G	ENST00000252087.1	+	1	617	c.617C>G	c.(616-618)gCa>gGa	p.A206G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCCAGGCAAGACATCAG	0.552																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(616-618)gCa>gGa									60.0	64.0	63.0					5																	140869424		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869424C>G	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.617C>G	5.37:g.140869424C>G	ENSP00000252087:p.Ala206Gly					PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron	p.A206G	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	617	+			206			Cadherin 2.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.617C>G	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	2.830	-0.242940	0.05906	.	.	ENSG00000240764	ENST00000252087	T	0.03689	3.84	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.108919	0.41396	D	0.000887	T	0.05914	0.0154	L	0.51914	1.62	0.31027	N	0.717833	B;B	0.13594	0.001;0.008	B;B	0.16289	0.004;0.015	T	0.02909	-1.1095	10	0.40728	T	0.16	.	15.0478	0.71841	0.1422:0.8578:0.0:0.0	.	206;206	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	G	206	ENSP00000252087:A206G	ENSP00000252087:A206G	A	+	2	0	PCDHGC5	140849608	0.003000	0.15002	0.998000	0.56505	0.003000	0.03518	1.968000	0.40500	2.890000	0.99128	0.655000	0.94253	GCA		0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		34	61	0	0	0	1	0	34	61				
TWSG1	57045	broad.mit.edu	37	18	9396470	9396470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396470C>A	ENST00000262120.5	+	4	607	c.416C>A	c.(415-417)aCt>aAt	p.T139N	TWSG1_ENST00000581641.1_Missense_Mutation_p.T139N	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	139					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTTTTAGAAACTGTGAACCAG	0.433																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(415-417)aCt>aAt		twisted gastrulation BMP signaling modulator 1							83.0	80.0	81.0					18																	9396470		2203	4300	6503	SO:0001583	missense	57045							g.chr18:9396470C>A	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.416C>A	18.37:g.9396470C>A	ENSP00000262120:p.Thr139Asn					TWSG1_ENST00000581641.1_Missense_Mutation_p.T139N	p.T139N	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			4	607	+			139					B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	c.416C>A	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761246	0.49468	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	5.33	0.75918	.	0.048656	0.85682	D	0.000000	T	0.67344	0.2883	M	0.68593	2.085	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.63963	-0.6518	9	0.41790	T	0.15	-26.3203	17.9941	0.89177	0.0:1.0:0.0:0.0	.	139	Q9GZX9	TWSG1_HUMAN	N	139	.	ENSP00000262120:T139N	T	+	2	0	TWSG1	9386470	1.000000	0.71417	0.922000	0.36590	0.994000	0.84299	3.069000	0.50026	2.506000	0.84524	0.561000	0.74099	ACT		0.433	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			22	51	1	0	1.96292e-10	1	2.12474e-10	22	51				
SERPINB4	6318	broad.mit.edu	37	18	61305169	61305169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:61305169C>G	ENST00000341074.5	-	8	1072	c.957G>C	c.(955-957)tgG>tgC	p.W319C	SERPINB4_ENST00000356424.6_Missense_Mutation_p.W267C	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	319					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GACCGTGGCTCCAGGTCATGC	0.517																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(955-957)tgG>tgC		serpin peptidase inhibitor, clade B (ovalbumin), member 4							152.0	135.0	141.0					18																	61305169		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61305169C>G	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.957G>C	18.37:g.61305169C>G	ENSP00000343445:p.Trp319Cys					SERPINB4_ENST00000356424.6_Missense_Mutation_p.W267C	p.W319C	NM_002974.2	NP_002965.1					8	1072	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.957G>C	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.631|7.631	0.678833|0.678833	0.14841|0.14841	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424	.|D;D	.|0.82344	.|-1.6;-1.6	4.4|4.4	1.19|1.19	0.21007|0.21007	.|Serpin domain (3);	.|0.910856	.|0.09078	.|N	.|0.851700	T|T	0.61553|0.61553	0.2356|0.2356	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.39326	.|0.365;0.668;0.365	.|B;B;B	.|0.31495	.|0.062;0.131;0.062	T|T	0.53947|0.53947	-0.8366|-0.8366	5|10	.|0.59425	.|D	.|0.04	.|.	9.9744|9.9744	0.41774|0.41774	0.1341:0.4535:0.4124:0.0|0.1341:0.4535:0.4124:0.0	.|.	.|319;319;298	.|Q5K684;P48594;Q9BYF7	.|.;SPB4_HUMAN;.	A|C	300|319;267	.|ENSP00000343445:W319C;ENSP00000348795:W267C	.|ENSP00000343445:W319C	G|W	-|-	2|3	0|0	SERPINB4|SERPINB4	59456149|59456149	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-4.493000|-4.493000	0.00225|0.00225	0.523000|0.523000	0.28482|0.28482	0.609000|0.609000	0.83330|0.83330	GGA|TGG		0.517	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		5	68	0	0	0	1	0	5	68				
SOWAHC	65124	broad.mit.edu	37	2	110373218	110373218	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:110373218G>T	ENST00000356454.3	+	1	1308	c.1152G>T	c.(1150-1152)cgG>cgT	p.R384R	SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	384																	ACCTGAGTCGGAGCATCGCCG	0.652																																						ENST00000356454.3																			0											c.(1150-1152)cgG>cgT		sosondowah ankyrin repeat domain family member C							45.0	53.0	50.0					2																	110373218		2203	4300	6503	SO:0001819	synonymous_variant	65124							g.chr2:110373218G>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1152G>T	2.37:g.110373218G>T							p.R384R	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1308	+			384					Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	c.1152G>T	CCDS33270.1																																																																																				0.652	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		14	53	1	0	7.93312e-07	1	8.34774e-07	14	53				
MUC3A	4584	broad.mit.edu	37	7	100551948	100551948	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:100551948C>A	ENST00000319509.7	+	1	699	c.699C>A	c.(697-699)atC>atA	p.I233I				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1898	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTAGTACCATCATCTGGTCCT	0.418																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(697-699)atC>atA		mucin 3A, cell surface associated							1254.0	1198.0	1215.0					7																	100551948		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100551948C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.699C>A	7.37:g.100551948C>A							p.I233I							1	699	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.699C>A																																																																																					0.418	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		59	760	1	0	1.59911e-31	1	1.87183e-31	59	760				
SNHG24	101929369	broad.mit.edu	37	14	101439050	101439050	+	lincRNA	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:101439050G>A	ENST00000554693.2	+	0	384				SNORD114-15_ENST00000364687.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-13_ENST00000364377.1_RNA|SNORD114-14_ENST00000362723.1_RNA|SNORD114-16_ENST00000363044.1_RNA																							CATACATGATGAATATGTGTC	0.368																																						ENST00000554693.2																			0																				217.0	197.0	203.0					14																	101439050		876	1991	2867			101929369							g.chr14:101439050G>A																													14.37:g.101439050G>A						SNORD114-15_ENST00000364687.1_RNA								0	384	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.368	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			16	96	0	0	0	1	0	16	96				
DNAH5	1767	broad.mit.edu	37	5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:13729585A>C	ENST00000265104.4	-	69	11950	c.11846T>G	c.(11845-11847)cTt>cGt	p.L3949R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTTTGCTAAGTTCCACCAA	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11845-11847)cTt>cGt		dynein, axonemal, heavy chain 5							168.0	140.0	150.0					5																	13729585		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13729585A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11846T>G	5.37:g.13729585A>C	ENSP00000265104:p.Leu3949Arg						p.L3949R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			69	11950	-	Lung NSC(4;0.00476)		3949					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11846T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715862	0.89112	.	.	ENSG00000039139	ENST00000265104	T	0.11821	2.74	5.91	5.91	0.95273	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70597	-0.4828	10	0.87932	D	0	.	16.35	0.83199	1.0:0.0:0.0:0.0	.	3949	Q8TE73	DYH5_HUMAN	R	3949	ENSP00000265104:L3949R	ENSP00000265104:L3949R	L	-	2	0	DNAH5	13782585	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.370000	0.79589	2.270000	0.75569	0.528000	0.53228	CTT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	50	0	0	0	1	0	20	50				
RNFT2	84900	broad.mit.edu	37	12	117188112	117188112	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:117188112G>A	ENST00000257575.4	+	4	783	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	RNFT2_ENST00000407967.3_Splice_Site_p.G184S|RNFT2_ENST00000319176.7_Splice_Site_p.G184S|RNFT2_ENST00000392549.2_Splice_Site_p.G184S			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	184						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCATAAGCTCGGTGAGTTCTG	0.632																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.e4+1		ring finger protein, transmembrane 2							31.0	16.0	21.0					12																	117188112		2200	4295	6495	SO:0001630	splice_region_variant	84900					integral to membrane	zinc ion binding	g.chr12:117188112G>A	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.550+1G>A	12.37:g.117188112G>A						RNFT2_ENST00000407967.3_Splice_Site_p.G184_splice|RNFT2_ENST00000319176.7_Splice_Site_p.G184_splice|RNFT2_ENST00000392549.2_Splice_Site_p.G184_splice	p.G184_splice			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	4	783	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		184					E9PAM7|Q96SU5	Splice_Site	SNP	ENST00000257575.4	37	c.550_splice	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205393	0.95033	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549;ENST00000319176	T;T	0.59364	0.27;0.27	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73515	-0.3958	10	0.52906	T	0.07	-14.4495	14.3441	0.66649	0.0707:0.0:0.9293:0.0	.	184;184	Q96EX2;E9PAM7	RNFT2_HUMAN;.	S	184	ENSP00000257575:G184S;ENSP00000376332:G184S	ENSP00000257575:G184S	G	+	1	0	RNFT2	115672495	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.590000	0.82653	2.763000	0.94921	0.655000	0.94253	GGC		0.632	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	Missense_Mutation	8	10	0	0	0	1	0	8	10				
CROCC	9696	broad.mit.edu	37	1	17280765	17280765	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:17280765G>A	ENST00000375541.5	+	22	3303	c.3234G>A	c.(3232-3234)ttG>ttA	p.L1078L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGAGAAGTTGATGGGTACAC	0.642																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3232-3234)ttG>ttA		ciliary rootlet coiled-coil, rootletin							83.0	95.0	91.0					1																	17280765		2201	4300	6501	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17280765G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3234G>A	1.37:g.17280765G>A						CROCC_ENST00000467938.1_3'UTR	p.L1078L	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	22	3303	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1078						Silent	SNP	ENST00000375541.5	37	c.3234G>A	CCDS30616.1																																																																																				0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		29	160	0	0	0	1	0	29	160				
AADAT	51166	broad.mit.edu	37	4	170999665	170999665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:170999665G>A	ENST00000337664.4	-	4	715	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	AADAT_ENST00000353187.2_Nonsense_Mutation_p.Q147*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.Q147*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.Q151*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	147					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CTCACACTTTGAAGAGTTCCT	0.294																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(439-441)Caa>Taa		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						99.0	94.0	96.0					4																	170999665		2203	4300	6503	SO:0001587	stop_gained	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170999665G>A	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.439C>T	4.37:g.170999665G>A	ENSP00000336808:p.Gln147*					AADAT_ENST00000353187.2_Nonsense_Mutation_p.Q147*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.Q151*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.Q147*	p.Q147*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	4	715	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	147					B3KP84|Q9UL02	Nonsense_Mutation	SNP	ENST00000337664.4	37	c.439C>T	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171029	0.78452	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187;ENST00000510340;ENST00000507375;ENST00000502392	.	.	.	5.57	1.59	0.23543	.	0.445045	0.26612	N	0.023412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.1238	7.5195	0.27620	0.1774:0.4847:0.338:0.0	.	.	.	.	X	147;147;151;147;138;147;147	.	ENSP00000336808:Q147X	Q	-	1	0	AADAT	171236240	0.988000	0.35896	0.986000	0.45419	0.162000	0.22319	0.594000	0.24014	0.773000	0.33404	0.563000	0.77884	CAA		0.294	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		3	25	0	0	0	1	0	3	25				
VPS8	23355	broad.mit.edu	37	3	184714213	184714213	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184714213A>G	ENST00000437079.3	+	44	3931	c.3760A>G	c.(3760-3762)Aaa>Gaa	p.K1254E	VPS8_ENST00000446204.2_Missense_Mutation_p.K1162E|VPS8_ENST00000436792.2_Missense_Mutation_p.K1252E|VPS8_ENST00000287546.4_Missense_Mutation_p.K1254E	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1254							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACTGAATCCCAAACAAGATTA	0.423																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(3760-3762)Aaa>Gaa		vacuolar protein sorting 8 homolog (S. cerevisiae)							79.0	76.0	77.0					3																	184714213		1888	4113	6001	SO:0001583	missense	23355						zinc ion binding	g.chr3:184714213A>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3760A>G	3.37:g.184714213A>G	ENSP00000397879:p.Lys1254Glu					VPS8_ENST00000436792.2_Missense_Mutation_p.K1252E|VPS8_ENST00000446204.2_Missense_Mutation_p.K1162E|VPS8_ENST00000437079.3_Missense_Mutation_p.K1254E	p.K1254E	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3931	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1254					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3760A>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302431	0.81136	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);	0.095984	0.64402	D	0.000001	T	0.64271	0.2583	L	0.54323	1.7	0.43603	D	0.995965	P;P;P	0.45348	0.704;0.856;0.804	B;P;B	0.50109	0.115;0.631;0.292	T	0.61013	-0.7148	10	0.06236	T	0.91	-4.1238	16.5655	0.84588	1.0:0.0:0.0:0.0	.	1254;1162;1252	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	E	1254;1254;1252;1162	ENSP00000287546:K1254E;ENSP00000397879:K1254E;ENSP00000404704:K1252E;ENSP00000405483:K1162E	ENSP00000287546:K1254E	K	+	1	0	VPS8	186196907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.049000	0.64244	2.302000	0.77476	0.533000	0.62120	AAA		0.423	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	154	0	0	0	1	0	8	154				
ZNF598	90850	broad.mit.edu	37	16	2051070	2051070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2051070G>A	ENST00000563630.1	-	7	1213	c.971C>T	c.(970-972)gCg>gTg	p.A324V	ZNF598_ENST00000562103.1_Missense_Mutation_p.A324V|ZNF598_ENST00000431526.1_Missense_Mutation_p.A379V|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	379							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCCCGCGCCGCTGCCTCCTC	0.711																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(970-972)gCg>gTg		zinc finger protein 598							8.0	10.0	9.0					16																	2051070		2081	4182	6263	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2051070G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.971C>T	16.37:g.2051070G>A	ENSP00000455882:p.Ala324Val					ZNF598_ENST00000431526.1_Missense_Mutation_p.A379V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A324V	p.A324V			Q86UK7	ZN598_HUMAN			7	1213	-			379					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.971C>T		.	.	.	.	.	.	.	.	.	.	.	10.24	1.296095	0.23650	.	.	ENSG00000167962	ENST00000431526	T	0.18338	2.22	4.03	-1.91	0.07641	.	0.565548	0.18366	N	0.143423	T	0.08626	0.0214	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29640	-1.0005	10	0.18710	T	0.47	-5.9305	1.7049	0.02880	0.4787:0.1718:0.2179:0.1317	.	379	Q86UK7	ZN598_HUMAN	V	379	ENSP00000411409:A379V	ENSP00000411409:A379V	A	-	2	0	ZNF598	1991071	0.135000	0.22499	0.000000	0.03702	0.037000	0.13140	0.000000	0.12993	-0.289000	0.09038	-0.136000	0.14681	GCG		0.711	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		4	9	0	0	0	1	0	4	9				
ASXL1	171023	broad.mit.edu	37	20	31022389	31022389	+	Missense_Mutation	SNP	G	G	A	rs199602042	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:31022389G>A	ENST00000375687.4	+	13	2298	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.R620Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	625	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A627fs*7(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGGTCCGAGGGGCGAGA	0.692			"""F, N, Mis"""		"""MDS, CMML"""								G|||	2	0.000399361	0.0015	0.0	5008	,	,		13835	0.0		0.0	False		,,,				2504	0.0					ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(2)	p.A627fs*7(2)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1873-1875)cGa>cAa		additional sex combs like 1 (Drosophila)							14.0	15.0	15.0					20																	31022389		2201	4294	6495	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022389G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1874G>A	20.37:g.31022389G>A	ENSP00000364839:p.Arg625Gln					ASXL1_ENST00000306058.5_Missense_Mutation_p.R620Q	p.R625Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2298	+			625					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1874G>A	CCDS13201.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.7	4.449633	0.84101	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.52526	0.66;0.66	5.41	3.4	0.38934	.	0.204689	0.43747	D	0.000533	T	0.39989	0.1099	N	0.08118	0	0.46774	D	0.999198	D;D	0.89917	1.0;1.0	P;P	0.59115	0.852;0.852	T	0.34153	-0.9840	10	0.42905	T	0.14	-2.0017	9.8704	0.41170	0.0743:0.138:0.7877:0.0	.	620;625	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	Q	625;625;625;564;620	ENSP00000364839:R625Q;ENSP00000305119:R620Q	ENSP00000305119:R620Q	R	+	2	0	ASXL1	30486050	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.509000	0.67012	1.486000	0.48398	0.561000	0.74099	CGA		0.692	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		8	43	0	0	0	1	0	8	43				
M1AP	130951	broad.mit.edu	37	2	74834291	74834291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:74834291C>G	ENST00000290536.5	-	4	602	c.486G>C	c.(484-486)ttG>ttC	p.L162F	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L162F|M1AP_ENST00000409585.1_Missense_Mutation_p.L162F	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	162					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CTGTATCTTTCAACCCTTCCT	0.458																																						ENST00000290536.5																			0											c.(484-486)ttG>ttC		meiosis 1 associated protein							159.0	144.0	149.0					2																	74834291		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74834291C>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.486G>C	2.37:g.74834291C>G	ENSP00000290536:p.Leu162Phe					M1AP_ENST00000409585.1_Missense_Mutation_p.L162F|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L162F	p.L162F	NM_138804.3	NP_620159.2					4	602	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.486G>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762403	0.69763	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.53857	0.6;0.6;0.6	5.98	1.63	0.23807	.	0.000000	0.64402	D	0.000003	T	0.62672	0.2447	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.962;0.998	T	0.60047	-0.7339	10	0.66056	D	0.02	-16.6939	3.5521	0.07850	0.1703:0.5182:0.0:0.3115	.	162;162;162	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	F	162	ENSP00000290536:L162F;ENSP00000386793:L162F;ENSP00000445662:L162F	ENSP00000290536:L162F	L	-	3	2	C2orf65	74687799	0.939000	0.31865	0.997000	0.53966	0.989000	0.77384	-0.041000	0.12084	0.304000	0.22809	-0.218000	0.12543	TTG		0.458	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		28	92	0	0	0	1	0	28	92				
CCNT2	905	broad.mit.edu	37	2	135711896	135711896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:135711896A>G	ENST00000264157.5	+	9	1901	c.1871A>G	c.(1870-1872)aAt>aGt	p.N624S	CCNT2_ENST00000295238.6_Missense_Mutation_p.N624S|CCNT2_ENST00000537343.1_Missense_Mutation_p.N449S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	624					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTGCATGTCAATGATGCATCT	0.473																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1870-1872)aAt>aGt		cyclin T2							175.0	169.0	171.0					2																	135711896		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711896A>G	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1871A>G	2.37:g.135711896A>G	ENSP00000264157:p.Asn624Ser					CCNT2_ENST00000295238.6_Missense_Mutation_p.N624S|CCNT2_ENST00000537343.1_Missense_Mutation_p.N449S	p.N624S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1901	+			624					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.1871A>G	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	A	0.718	-0.784631	0.02907	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.21543	2.0;2.0	5.43	4.24	0.50183	.	0.232307	0.51477	N	0.000092	T	0.11537	0.0281	N	0.16478	0.41	0.32520	N	0.536334	B;B;B	0.16802	0.019;0.001;0.002	B;B;B	0.14023	0.01;0.002;0.004	T	0.19418	-1.0306	10	0.08381	T	0.77	.	11.5625	0.50785	0.9288:0.0:0.0711:0.0	.	449;624;624	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	S	449;624;624	ENSP00000295238:N624S;ENSP00000264157:N624S	ENSP00000264157:N624S	N	+	2	0	CCNT2	135428366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.845000	0.55880	0.848000	0.35191	0.533000	0.62120	AAT		0.473	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		21	77	0	0	0	1	0	21	77				
SYT13	57586	broad.mit.edu	37	11	45265715	45265715	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:45265715A>T	ENST00000020926.3	-	6	1280	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	390	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCAGTGGCCAAGCGCACAGCT	0.622																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1168-1170)cTt>cAt		synaptotagmin XIII							82.0	76.0	78.0					11																	45265715		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265715A>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1169T>A	11.37:g.45265715A>T	ENSP00000020926:p.Leu390His						p.L390H	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1280	-			390			C2 2.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1169T>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708459	0.68615	.	.	ENSG00000019505	ENST00000020926	T	0.74526	-0.85	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000005	D	0.88644	0.6492	M	0.89904	3.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91031	0.4864	10	0.87932	D	0	.	15.6925	0.77466	1.0:0.0:0.0:0.0	.	390	Q7L8C5	SYT13_HUMAN	H	390	ENSP00000020926:L390H	ENSP00000020926:L390H	L	-	2	0	SYT13	45222291	1.000000	0.71417	0.069000	0.20011	0.388000	0.30384	8.907000	0.92634	2.114000	0.64651	0.533000	0.62120	CTT		0.622	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		11	42	0	0	0	1	0	11	42				
ZNF181	339318	broad.mit.edu	37	19	35232847	35232847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:35232847G>A	ENST00000492450.1	+	4	1650	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	ZNF181_ENST00000459757.2_Missense_Mutation_p.E520K|ZNF181_ENST00000392232.3_Missense_Mutation_p.E565K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	521					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAAATGTAATGAGTGTGGGAA	0.388																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1693-1695)Gag>Aag		zinc finger protein 181							64.0	71.0	69.0					19																	35232847		2202	4298	6500	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232847G>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1561G>A	19.37:g.35232847G>A	ENSP00000420727:p.Glu521Lys					ZNF181_ENST00000492450.1_Missense_Mutation_p.E521K|ZNF181_ENST00000459757.1_Missense_Mutation_p.E520K	p.E565K			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1861	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		521					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1693G>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536000	0.45176	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	T;T;T	0.07327	3.2;3.2;3.2	2.74	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	L	0.42529	1.33	0.09310	N	1	P;P	0.43826	0.818;0.818	B;B	0.42214	0.38;0.38	T	0.17471	-1.0368	9	0.46703	T	0.11	.	11.6561	0.51320	0.0:0.0:1.0:0.0	.	520;521	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	K	565;521;520	ENSP00000376065:E565K;ENSP00000420727:E521K;ENSP00000419435:E520K	ENSP00000376065:E565K	E	+	1	0	ZNF181	39924687	0.002000	0.14202	0.998000	0.56505	0.969000	0.65631	0.861000	0.27885	1.851000	0.53745	0.655000	0.94253	GAG		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		6	68	0	0	0	1	0	6	68				
DYSF	8291	broad.mit.edu	37	2	71762192	71762192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:71762192G>A	ENST00000258104.3	+	14	1603	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	DYSF_ENST00000394120.2_Nonsense_Mutation_p.W443*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W442*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W474*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W473*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W473*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W473*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W443*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	442	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCCTCAGTGGAACCAGAACA	0.622																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1324-1326)tgG>tgA		dysferlin							121.0	103.0	109.0					2																	71762192		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71762192G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1326G>A	2.37:g.71762192G>A	ENSP00000258104:p.Trp442*					DYSF_ENST00000409582.3_Nonsense_Mutation_p.W473*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W443*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W442*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W473*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W474*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W473*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W474*	p.W442*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			14	1603	+			442			C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.1326G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	42	9.336593	0.99140	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7344	16.2466	0.82448	0.0:0.0:1.0:0.0	.	.	.	.	X	473;473;473;442;442;474;443;443;443;474;474	.	ENSP00000258104:W442X	W	+	3	0	DYSF	71615700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.093000	0.94163	2.640000	0.89533	0.655000	0.94253	TGG		0.622	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		14	39	0	0	0	1	0	14	39				
CECR2	27443	broad.mit.edu	37	22	18028690	18028690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:18028690C>T	ENST00000400585.2	+	17	3659	c.3221C>T	c.(3220-3222)tCa>tTa	p.S1074L	CECR2_ENST00000262608.8_Missense_Mutation_p.S1217L|CECR2_ENST00000400573.5_Missense_Mutation_p.S1216L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1258					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCTCTTCTCAGATAAGAAT	0.557																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3649-3651)tCa>tTa		cat eye syndrome chromosome region, candidate 2							64.0	67.0	66.0					22																	18028690		1991	4152	6143	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028690C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3221C>T	22.37:g.18028690C>T	ENSP00000383428:p.Ser1074Leu					CECR2_ENST00000400573.4_Missense_Mutation_p.S1216L|CECR2_ENST00000400585.2_Missense_Mutation_p.S1074L	p.S1217L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3650	+		all_epithelial(15;0.139)	1258					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3650C>T		.	.	.	.	.	.	.	.	.	.	C	13.89	2.373359	0.42105	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.55;1.44	4.78	2.56	0.30785	.	0.765588	0.11136	N	0.595805	T	0.32823	0.0842	L	0.60455	1.87	0.34789	D	0.735527	P;P;P	0.43477	0.808;0.808;0.546	B;B;B	0.43508	0.422;0.245;0.136	T	0.37526	-0.9702	10	0.33141	T	0.24	-0.9946	9.5858	0.39514	0.141:0.7839:0.0:0.0751	.	1258;1074;1216	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1074;1216;1217	ENSP00000383428:S1074L;ENSP00000383417:S1216L;ENSP00000262608:S1217L	ENSP00000262608:S1217L	S	+	2	0	CECR2	16408690	0.897000	0.30589	0.437000	0.26809	0.849000	0.48306	2.837000	0.48191	0.487000	0.27698	0.555000	0.69702	TCA		0.557	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		14	62	0	0	0	1	0	14	62				
IRF7	3665	broad.mit.edu	37	11	613570	613570	+	Silent	SNP	C	C	G	rs374866014		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:613570C>G	ENST00000397574.2	-	9	1242	c.873G>C	c.(871-873)gtG>gtC	p.V291V	IRF7_ENST00000397570.1_Silent_p.V262V|IRF7_ENST00000348655.6_Silent_p.V262V|IRF7_ENST00000397566.1_Silent_p.V304V|IRF7_ENST00000330243.5_Silent_p.V304V|IRF7_ENST00000525445.1_Silent_p.V185V|IRF7_ENST00000397562.3_5'UTR	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACATGATGGTCACGTCCAGCG	0.682																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(910-912)gtG>gtC		interferon regulatory factor 7							12.0	15.0	14.0					11																	613570		2077	4157	6234	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613570C>G	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.873G>C	11.37:g.613570C>G						IRF7_ENST00000330243.5_Silent_p.V304V|IRF7_ENST00000397574.2_Silent_p.V291V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Silent_p.V262V|IRF7_ENST00000525445.1_Silent_p.V185V|IRF7_ENST00000397570.1_Silent_p.V262V	p.V304V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1321	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	291					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.912G>C	CCDS7703.1																																																																																				0.682	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		5	27	0	0	0	1	0	5	27				
NME5	8382	broad.mit.edu	37	5	137464973	137464973	+	Missense_Mutation	SNP	G	G	A	rs540788174	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:137464973G>A	ENST00000265191.2	-	3	363	c.314C>T	c.(313-315)gCg>gTg	p.A105V	NME5_ENST00000508252.1_5'UTR	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	105					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTCTCCTTCGCTACTAAGCT	0.393													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16862	0.0		0.0	False		,,,				2504	0.0					ENST00000265191.2																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(313-315)gCg>gTg		NME/NM23 family member 5							108.0	110.0	109.0					5																	137464973		2203	4300	6503	SO:0001583	missense	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137464973G>A	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.314C>T	5.37:g.137464973G>A	ENSP00000265191:p.Ala105Val					NME5_ENST00000508252.1_5'UTR	p.A105V	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	363	-			105					B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	c.314C>T	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549418	0.96501	.	.	ENSG00000112981	ENST00000265191	T	0.60171	0.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	H	0.98178	4.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.91073	0.4894	10	0.87932	D	0	.	19.4909	0.95049	0.0:0.0:1.0:0.0	.	105	P56597	NDK5_HUMAN	V	105	ENSP00000265191:A105V	ENSP00000265191:A105V	A	-	2	0	NME5	137492872	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.691000	0.98679	2.595000	0.87683	0.650000	0.86243	GCG		0.393	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		13	53	0	0	0	1	0	13	53				
SDAD1	55153	broad.mit.edu	37	4	76879075	76879075	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:76879075A>G	ENST00000356260.5	-	18	1621	c.1503T>C	c.(1501-1503)agT>agC	p.S501S	SDAD1_ENST00000395711.4_Silent_p.S464S|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	501					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCACTGAGACTGGTACTTT	0.403																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1501-1503)agT>agC		SDA1 domain containing 1							179.0	169.0	172.0					4																	76879075		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76879075A>G	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1503T>C	4.37:g.76879075A>G						SDAD1_ENST00000395711.4_Silent_p.S464S	p.S501S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		18	1621	-			501					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.1503T>C	CCDS3573.2																																																																																				0.403	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		10	102	0	0	0	1	0	10	102				
USP1	7398	broad.mit.edu	37	1	62916495	62916495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:62916495C>T	ENST00000339950.4	+	9	3016	c.2201C>T	c.(2200-2202)tCa>tTa	p.S734L	USP1_ENST00000371146.1_Missense_Mutation_p.S734L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	734	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AACAAAATTTCATACGTAGTG	0.378																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(2200-2202)tCa>tTa		ubiquitin specific peptidase 1							121.0	126.0	124.0					1																	62916495		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916495C>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.2201C>T	1.37:g.62916495C>T	ENSP00000343526:p.Ser734Leu					USP1_ENST00000371146.1_Missense_Mutation_p.S734L	p.S734L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	3016	+		all_neural(321;0.0281)	734					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.2201C>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	1.716	-0.497910	0.04291	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.18174	2.23;2.23	5.44	5.44	0.79542	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.506922	0.20126	N	0.098692	T	0.08670	0.0215	N	0.14661	0.345	0.30259	N	0.793302	B	0.10296	0.003	B	0.08055	0.003	T	0.18871	-1.0323	10	0.16896	T	0.51	-9.0891	6.5643	0.22503	0.0:0.7967:0.0:0.2033	.	734	O94782	UBP1_HUMAN	L	734	ENSP00000360188:S734L;ENSP00000343526:S734L	ENSP00000343526:S734L	S	+	2	0	USP1	62689083	0.992000	0.36948	0.996000	0.52242	0.948000	0.59901	3.526000	0.53509	2.834000	0.97654	0.650000	0.86243	TCA		0.378	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		24	48	0	0	0	1	0	24	48				
EEF1G	1937	broad.mit.edu	37	11	62327592	62327592	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:62327592G>A	ENST00000329251.4	-	9	1234	c.1104C>T	c.(1102-1104)agC>agT	p.S368S	EEF1G_ENST00000378019.3_Silent_p.S418S|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	368	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAATGGAGCTGCTATTGTTGG	0.537																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1252-1254)agC>agT		eukaryotic translation elongation factor 1 gamma							68.0	65.0	66.0					11																	62327592		1881	4099	5980	SO:0001819	synonymous_variant	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327592G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1104C>T	11.37:g.62327592G>A						EEF1G_ENST00000329251.4_Silent_p.S368S|MIR3654_ENST00000496634.2_3'UTR	p.S418S			P26641	EF1G_HUMAN			9	1344	-			368			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Silent	SNP	ENST00000329251.4	37	c.1254C>T	CCDS44626.1																																																																																				0.537	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		32	43	0	0	0	1	0	32	43				
RNF40	9810	broad.mit.edu	37	16	30774767	30774767	+	Missense_Mutation	SNP	G	G	A	rs556209638		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30774767G>A	ENST00000324685.6	+	4	764	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	RNF40_ENST00000357890.5_Missense_Mutation_p.R110Q|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110Q|C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	110					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCCTTCTCCGATGCCATGAG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20051	0.0		0.001	False		,,,				2504	0.0					ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(328-330)cGa>cAa		ring finger protein 40, E3 ubiquitin protein ligase							75.0	75.0	75.0					16																	30774767		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774767G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.329G>A	16.37:g.30774767G>A	ENSP00000325677:p.Arg110Gln					RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110Q|RNF40_ENST00000357890.5_Missense_Mutation_p.R110Q	p.R110Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	764	+			110					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.329G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086594	0.20390	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.29655	1.56;1.56	5.84	4.87	0.63330	.	0.369008	0.28093	N	0.016626	T	0.10121	0.0248	N	0.02368	-0.58	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.14868	-1.0457	10	0.05436	T	0.98	-1.0246	8.2887	0.31943	0.1799:0.0:0.8201:0.0	.	110;110;110	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	Q	110	ENSP00000325677:R110Q;ENSP00000350563:R110Q	ENSP00000325677:R110Q	R	+	2	0	RNF40	30682268	0.546000	0.26457	0.986000	0.45419	0.982000	0.71751	1.765000	0.38481	1.438000	0.47492	0.563000	0.77884	CGA		0.542	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		20	87	0	0	0	1	0	20	87				
TTN	7273	broad.mit.edu	37	2	179593063	179593063	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:179593063A>G	ENST00000591111.1	-	65	18761	c.18537T>C	c.(18535-18537)tcT>tcC	p.S6179S	TTN_ENST00000589042.1_Silent_p.S6496S|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S5252S|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12960	Ig-like 43.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGAATAGAAGAGCCCAGAA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19486-19488)tcT>tcC		titin							67.0	63.0	64.0					2																	179593063		1837	4090	5927	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593063A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18537T>C	2.37:g.179593063A>G						TTN_ENST00000591111.1_Silent_p.S6179S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5252S	p.S6496S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		67	19712	-			6179			Ig-like 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19488T>C																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	15	0	0	0	1	0	4	15				
CD163L1	283316	broad.mit.edu	37	12	7528319	7528319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:7528319C>G	ENST00000313599.3	-	10	2720	c.2663G>C	c.(2662-2664)aGa>aCa	p.R888T	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.R898T|CD163L1_ENST00000396630.1_Missense_Mutation_p.R888T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	888	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCAACTTCTCTGCTGTGGAT	0.463																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2662-2664)aGa>aCa		CD163 molecule-like 1							106.0	98.0	101.0					12																	7528319		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528319C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2663G>C	12.37:g.7528319C>G	ENSP00000315945:p.Arg888Thr					CD163L1_ENST00000396630.1_Missense_Mutation_p.R888T|CD163L1_ENST00000416109.2_Missense_Mutation_p.R898T|CD163L1_ENST00000544331.1_5'UTR	p.R888T			Q9NR16	C163B_HUMAN			10	2720	-			888			SRCR 8.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2663G>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599912	0.46318	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34859	1.34;1.34;1.34	2.84	-0.588	0.11687	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.613433	0.14095	U	0.341779	T	0.37433	0.1003	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.74674	0.984;0.953	T	0.16778	-1.0391	10	0.35671	T	0.21	.	2.3504	0.04282	0.2378:0.4648:0.0:0.2974	.	898;888	E7EVK4;Q9NR16	.;C163B_HUMAN	T	888;898;888	ENSP00000315945:R888T;ENSP00000393474:R898T;ENSP00000379871:R888T	ENSP00000315945:R888T	R	-	2	0	CD163L1	7419586	0.000000	0.05858	0.005000	0.12908	0.723000	0.41478	0.320000	0.19540	0.078000	0.16900	0.455000	0.32223	AGA		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		8	90	0	0	0	1	0	8	90				
ZNF595	152687	broad.mit.edu	37	4	59958	59958	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:59958G>A	ENST00000509152.2	+	3	323	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.V46V			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAGGTTTTGTGATCTCTAACC	0.388																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(136-138)gtG>gtA		zinc finger protein 595							81.0	89.0	86.0					4																	59958		2167	4291	6458	SO:0001819	synonymous_variant	152687							g.chr4:59958G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.138G>A	4.37:g.59958G>A						ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.V46V	p.V46V						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	3	323	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Silent	SNP	ENST00000509152.2	37	c.138G>A																																																																																					0.388	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		9	92	0	0	0	1	0	9	92				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		8	192	0	0	0	1	0	8	192				
COL3A1	1281	broad.mit.edu	37	2	189860427	189860428	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:189860427_189860428delGG	ENST00000304636.3	+	22	1689_1690	c.1519_1520delGG	c.(1519-1521)ggafs	p.G507fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G507fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	507	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGTCCTGCTGGAGAGCGTGGT	0.48																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1519-1521)afs		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)																																			SO:0001589	frameshift_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189860427_189860428delGG	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1519_1520delGG	2.37:g.189860427_189860428delGG	ENSP00000304408:p.Gly507fs					COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G507fs	p.G507fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		22	1689_1690	+			507			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Del	DEL	ENST00000304636.3	37	c.1519_1520delGG	CCDS2297.1																																																																																				0.480	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		2	4						2	4	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046528	184046529	+	Frame_Shift_Ins	INS	-	-	T	rs144059151	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184046528_184046529insT	ENST00000346169.2	+	27	4334_4335	c.4063_4064insT	c.(4063-4065)atgfs	p.M1355fs	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.M1159fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.M1362fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.M1355fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.M1192fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.M1268fs|EIF4G1_ENST00000342981.4_Frame_Shift_Ins_p.M1356fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.M1362fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.M1315fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.M1362fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.M1191fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.M1160fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.M1316fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.M1269fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1355	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGGTGCCCATGGGGGAGCTG	0.545																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4066-4068)gggfs		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001589	frameshift_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046528_184046529insT	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4064dupT	3.37:g.184046529_184046529dupT	ENSP00000316879:p.Met1355fs					EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.G1269fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.G1160fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.G1316fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.G1362fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.G1315fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.G1191fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.G1268fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.G1192fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.G1159fs	p.G1356fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4480_4481	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1355			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Ins	INS	ENST00000346169.2	37	c.4066_4067insT	CCDS3259.1																																																																																				0.545	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		26	234						26	234	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			441194							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		2	4						2	4	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6707098	6707098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:6707098delT	ENST00000357008.2	-	12	2017	c.1854delA	c.(1852-1854)aaafs	p.K618fs	CHD4_ENST00000544040.1_Frame_Shift_Del_p.K611fs|CHD4_ENST00000309577.6_Frame_Shift_Del_p.K618fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K615fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	618					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCACTCGGGTTTTATCCCAT	0.517																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1852-1854)aafs		chromodomain helicase DNA binding protein 4							169.0	169.0	169.0					12																	6707098		2203	4300	6503	SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707098delT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1854delA	12.37:g.6707098delT	ENSP00000349508:p.Lys618fs					CHD4_ENST00000544484.1_Frame_Shift_Del_p.K615fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K618fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K611fs	p.K618fs			Q14839	CHD4_HUMAN			12	2017	-			618					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.1854delA	CCDS8552.1																																																																																				0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		28	165						28	165	---	---	---	---
C14orf177	283598	broad.mit.edu	37	14	99182679	99182680	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:99182679_99182680delAG	ENST00000325812.2	+	3	570_571	c.151_152delAG	c.(151-153)agafs	p.R51fs		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	51										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGAGCCTAAGACATAACAAG	0.49																																						ENST00000325812.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(151-153)afs		chromosome 14 open reading frame 177																																				SO:0001589	frameshift_variant	283598							g.chr14:99182679_99182680delAG	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.151_152delAG	14.37:g.99182679_99182680delAG	ENSP00000321360:p.Arg51fs						p.R51fs	NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN			3	570_571	+		Melanoma(154;0.128)	51					Q8N7D2	Frame_Shift_Del	DEL	ENST00000325812.2	37	c.151_152delAG	CCDS9948.1																																																																																				0.490	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		10	33						10	33	---	---	---	---
HMOX2	3163	broad.mit.edu	37	16	4557930	4557932	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:4557930_4557932delATA	ENST00000570646.1	+	4	1026_1028	c.421_423delATA	c.(421-423)atadel	p.I141del	HMOX2_ENST00000219700.6_In_Frame_Del_p.I141del|HMOX2_ENST00000414777.1_In_Frame_Del_p.I141del|HMOX2_ENST00000575120.1_In_Frame_Del_p.I112del|HMOX2_ENST00000398595.3_In_Frame_Del_p.I141del|HMOX2_ENST00000458134.3_In_Frame_Del_p.I141del|HMOX2_ENST00000406590.2_In_Frame_Del_p.I141del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	141					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GATCCACTACATAGGGCAGAACG	0.606																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(421-423)del		heme oxygenase (decycling) 2	NADH(DB00157)																																			SO:0001651	inframe_deletion	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4557930_4557932delATA		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.421_423delATA	16.37:g.4557930_4557932delATA	ENSP00000459214:p.Ile141del					HMOX2_ENST00000458134.3_In_Frame_Del_p.I141del|HMOX2_ENST00000414777.1_In_Frame_Del_p.I141del|HMOX2_ENST00000406590.2_In_Frame_Del_p.I141del|HMOX2_ENST00000219700.6_In_Frame_Del_p.I141del|HMOX2_ENST00000575120.1_In_Frame_Del_p.I112del|HMOX2_ENST00000398595.3_In_Frame_Del_p.I141del	p.I141del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			4	1026_1028	+			141					A8MT35|D3DUD5|I3L430|O60605	In_Frame_Del	DEL	ENST00000570646.1	37	c.421_423delATA	CCDS10517.1																																																																																				0.606	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			11	33						11	33	---	---	---	---
PIGN	23556	broad.mit.edu	37	18	59825034	59825035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:59825034_59825035insA	ENST00000357637.5	-	5	643_644	c.228_229insT	c.(226-231)atcatafs	p.I77fs	PIGN_ENST00000400334.3_Frame_Shift_Ins_p.I77fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	77					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.I77V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TCATGCATTATGATATTCCTAA	0.371																																						ENST00000357637.5																			1	Substitution - Missense(1)	p.I77V(1)	ovary(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(226-231)attaatfs		phosphatidylinositol glycan anchor biosynthesis, class N																																				SO:0001589	frameshift_variant	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59825034_59825035insA	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.228_229insT	18.37:g.59825034_59825035insA	ENSP00000350263:p.Ile77fs					PIGN_ENST00000400334.3_Frame_Shift_Ins_p.N77fs	p.N77fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN			5	643_644	-		Colorectal(73;0.187)	77					Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Ins	INS	ENST00000357637.5	37	c.228_229insT	CCDS45879.1																																																																																				0.371	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		4	6						4	6	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430288	12430298	+	Frame_Shift_Del	DEL	AGGTTTCTACG	AGGTTTCTACG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:12430288_12430298delAGGTTTCTACG	ENST00000293725.5	-	4	746_756	c.541_551delCGTAGAAACCT	c.(541-552)cgtagaaaccttfs	p.RRNL181fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.RRNL181fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGTCTTCGAAGGTTTCTACGAGAACTGAAG	0.422																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(541-552)tfs		zinc finger protein 563																																				SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430288_12430298delAGGTTTCTACG	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.541_551delCGTAGAAACCT	19.37:g.12430288_12430298delAGGTTTCTACG	ENSP00000293725:p.Arg181fs					ZNF563_ENST00000595977.1_Frame_Shift_Del_p.RRNL181fs	p.RRNL181fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	746_756	-			181					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.541_551delCGTAGAAACCT	CCDS12270.1																																																																																				0.422	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		20	78						20	78	---	---	---	---
