#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
DTX1	1840	broad.mit.edu	37	12	113515368	113515368	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:113515368C>T	ENST00000257600.3	+	2	902	c.399C>T	c.(397-399)taC>taT	p.Y133Y		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	133	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAACGCCTACGAGAAGCAGC	0.627																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(397-399)taC>taT		deltex homolog 1 (Drosophila)							108.0	79.0	89.0					12																	113515368		2203	4300	6503	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515368C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.399C>T	12.37:g.113515368C>T							p.Y133Y	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	902	+			133			WWE 2.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.399C>T	CCDS9164.1																																																																																				0.627	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			4	63	0	0	0	0.248553	0	4	63				
GRID1	2894	broad.mit.edu	37	10	87482888	87482888	+	Silent	SNP	A	A	G	rs575574551		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:87482888A>G	ENST00000327946.7	-	12	1954	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	GRID1_ENST00000536331.1_Silent_p.S194S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	623					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGTTCACGGAAGATTCGCCAC	0.597										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1867-1869)tcT>tcC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						104.0	77.0	86.0					10																	87482888		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87482888A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1869T>C	10.37:g.87482888A>G		Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Silent_p.S194S	p.S623S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			12	1954	-			623					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1869T>C	CCDS31236.1																																																																																				0.597	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		13	50	0	0	0	0.457914	0	13	50				
ZNF30	90075	broad.mit.edu	37	19	35434153	35434153	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:35434153G>C	ENST00000601142.1	+	5	520	c.283G>C	c.(283-285)Ggc>Cgc	p.G95R	ZNF30_ENST00000439785.1_Missense_Mutation_p.G96R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G96R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G14R			P17039	ZNF30_HUMAN	zinc finger protein 30	95					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGATACAATCGGCTGTAAAGA	0.323																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(286-288)Ggc>Cgc		zinc finger protein 30							35.0	33.0	33.0					19																	35434153		1804	4067	5871	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434153G>C	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.283G>C	19.37:g.35434153G>C	ENSP00000469954:p.Gly95Arg					ZNF30_ENST00000303586.7_Missense_Mutation_p.G96R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G14R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G95R	p.G96R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	730	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		95					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.286G>C	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794872	0.02862	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.08546	3.31;3.08	1.35	0.29	0.15728	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.02	B;B	0.30029	0.11;0.005	T	0.48958	-0.8988	9	0.16420	T	0.52	.	3.0675	0.06219	0.7219:0.0:0.2781:0.0	.	96;95	P17039-2;P17039	.;ZNF30_HUMAN	R	96;95;14	ENSP00000403441:G96R;ENSP00000416457:G14R	ENSP00000303889:G95R	G	+	1	0	ZNF30	40125993	0.008000	0.16893	0.003000	0.11579	0.009000	0.06853	0.923000	0.28757	0.037000	0.15575	-0.507000	0.04495	GGC		0.323	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		6	20	0	0	0	0.217242	0	6	20				
PMFBP1	83449	broad.mit.edu	37	16	72188154	72188154	+	Missense_Mutation	SNP	C	C	A	rs565876790	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:72188154C>A	ENST00000237353.10	-	4	631	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'Flank|PMFBP1_ENST00000537465.1_Missense_Mutation_p.D124Y	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	124						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGAACCAGGTCGGAAGTCTGC	0.448																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(370-372)Gac>Tac		polyamine modulated factor 1 binding protein 1							176.0	166.0	169.0					16																	72188154		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188154C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.370G>T	16.37:g.72188154C>A	ENSP00000237353:p.Asp124Tyr					PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D124Y	p.D124Y			Q8TBY8	PMFBP_HUMAN			4	528	-		Ovarian(137;0.179)	124					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.370G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179523	0.78564	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.79653	-1.29;-1.29	5.63	5.63	0.86233	.	0.122200	0.37761	N	0.001955	D	0.83124	0.5186	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.85173	0.0999	10	0.87932	D	0	-19.9153	15.1899	0.73035	0.0:1.0:0.0:0.0	.	124;124	Q8TBY8-2;G3V1Q7	.;.	Y	124	ENSP00000443817:D124Y;ENSP00000237353:D124Y	ENSP00000237353:D124Y	D	-	1	0	PMFBP1	70745655	0.990000	0.36364	0.960000	0.40013	0.950000	0.60333	3.761000	0.55242	2.669000	0.90835	0.655000	0.94253	GAC		0.448	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		84	259	1	0	9.36137e-61	0.870114	1.27396e-60	84	259				
MORC1	27136	broad.mit.edu	37	3	108725922	108725922	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:108725922A>G	ENST00000232603.5	-	18	1803	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3			MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GATTTCGTCCACTGGTATAAA	0.363																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1720-1722)gTg>gCg		MORC family CW-type zinc finger 1							99.0	91.0	94.0					3																	108725922		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108725922A>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000232603.5:c.1721T>C	3.37:g.108725922A>G	ENSP00000232603:p.Val574Ala					MORC1_ENST00000483760.1_Intron	p.V574A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			18	1803	-			574						Missense_Mutation	SNP	ENST00000232603.5	37	c.1721T>C	CCDS2955.1	.	.	.	.	.	.	.	.	.	.	A	4.747	0.138924	0.09083	.	.	ENSG00000114487	ENST00000232603	T	0.05081	3.5	4.04	1.11	0.20524	.	2.040130	0.02946	N	0.141059	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33727	-0.9857	10	0.02654	T	1	3.833	2.4569	0.04532	0.2779:0.0:0.4864:0.2357	.	574	Q86VD1	MORC1_HUMAN	A	574	ENSP00000232603:V574A	ENSP00000232603:V574A	V	-	2	0	MORC1	110208612	0.001000	0.12720	0.001000	0.08648	0.644000	0.38419	0.302000	0.19192	0.223000	0.20920	0.533000	0.62120	GTG		0.363	MORC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353843.1			24	108	0	0	0	0.654019	0	24	108				
SLC5A8	160728	broad.mit.edu	37	12	101576647	101576647	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:101576647C>A	ENST00000536262.2	-	9	1657	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGATTAGATCTTCCACAGTT	0.343																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1099-1101)Gat>Tat		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							108.0	104.0	105.0					12																	101576647		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576647C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1099G>T	12.37:g.101576647C>A	ENSP00000445340:p.Asp367Tyr						p.D367Y	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			9	1657	-			367						Missense_Mutation	SNP	ENST00000536262.2	37	c.1099G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627856	0.66901	.	.	ENSG00000256870	ENST00000536262	D	0.96365	-3.99	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99004	0.9660	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99198	1.0872	10	0.87932	D	0	.	19.5567	0.95351	0.0:1.0:0.0:0.0	.	367	Q8N695	SC5A8_HUMAN	Y	367	ENSP00000445340:D367Y	ENSP00000445340:D367Y	D	-	1	0	SLC5A8	100100778	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	7.752000	0.85141	2.641000	0.89580	0.650000	0.86243	GAT		0.343	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		25	127	1	0	1.32003e-05	0.693898	1.44972e-05	25	127				
ST6GALNAC2	10610	broad.mit.edu	37	17	74569350	74569350	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:74569350C>T	ENST00000225276.5	-	4	776	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	153					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGCCCACCACGGCACACCGG	0.607																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(457-459)Gtg>Atg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							38.0	33.0	35.0					17																	74569350		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74569350C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.457G>A	17.37:g.74569350C>T	ENSP00000225276:p.Val153Met					ST6GALNAC2_ENST00000586520.1_5'UTR	p.V153M	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			4	776	-			153					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.457G>A	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108011	0.56291	.	.	ENSG00000070731	ENST00000225276	T	0.61392	0.11	4.9	4.9	0.64082	.	0.068083	0.64402	D	0.000020	D	0.84088	0.5395	H	0.97587	4.035	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	D	0.89805	0.3978	10	0.87932	D	0	-20.8824	15.0065	0.71516	0.0:1.0:0.0:0.0	.	153	Q9UJ37	SIA7B_HUMAN	M	153	ENSP00000225276:V153M	ENSP00000225276:V153M	V	-	1	0	ST6GALNAC2	72080945	1.000000	0.71417	0.759000	0.31340	0.098000	0.18820	6.566000	0.73978	2.269000	0.75478	0.585000	0.79938	GTG		0.607	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		5	26	0	0	0	0.217242	0	5	26				
RNF213	57674	broad.mit.edu	37	17	78313928	78313928	+	Silent	SNP	C	C	A	rs373444242		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78313928C>A	ENST00000582970.1	+	26	5904	c.5761C>A	c.(5761-5763)Cga>Aga	p.R1921R	RNF213_ENST00000336301.6_5'Flank|RNF213_ENST00000508628.2_Silent_p.R1970R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1921					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGCAGCACCGAGAAGACTA	0.607																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(5761-5763)Cga>Aga		ring finger protein 213							87.0	65.0	72.0					17																	78313928		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78313928C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5761C>A	17.37:g.78313928C>A						RNF213_ENST00000508628.2_Silent_p.R1970R	p.R1921R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		26	5904	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.5761C>A	CCDS58606.1																																																																																				0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	23	1	0	0.00498961	0.520397	0.00520582	18	23				
RYR1	6261	broad.mit.edu	37	19	38976768	38976768	+	Missense_Mutation	SNP	C	C	T	rs375106396		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:38976768C>T	ENST00000359596.3	+	34	5473	c.5473C>T	c.(5473-5475)Cac>Tac	p.H1825Y	RYR1_ENST00000355481.4_Missense_Mutation_p.H1825Y|RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1825	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGTGGGCAGCACGCTCGCGA	0.687																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5473-5475)Cac>Tac		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						74.0	72.0	73.0					19																	38976768		2201	4292	6493	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976768C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5473C>T	19.37:g.38976768C>T	ENSP00000352608:p.His1825Tyr					RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H1825Y	p.H1825Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5604	+	all_cancers(60;7.91e-06)		1825			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5473C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913485	0.33815	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74002	-0.8;-0.8;-0.8	3.7	3.7	0.42460	.	0.184662	0.33005	U	0.005385	T	0.81706	0.4879	M	0.74467	2.265	0.38641	D	0.9516	D;D	0.57899	0.981;0.962	P;P	0.54590	0.73;0.756	D	0.86593	0.1861	10	0.72032	D	0.01	.	15.2171	0.73277	0.0:1.0:0.0:0.0	.	1825;1825	P21817-2;P21817	.;RYR1_HUMAN	Y	1825	ENSP00000352608:H1825Y;ENSP00000347667:H1825Y;ENSP00000354254:H1825Y	ENSP00000347667:H1825Y	H	+	1	0	RYR1	43668608	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	6.143000	0.71756	1.886000	0.54624	0.585000	0.79938	CAC		0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			63	168	0	0	0	0.870114	0	63	168				
OR5D13	390142	broad.mit.edu	37	11	55541467	55541467	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541467T>C	ENST00000361760.1	+	1	554	c.554T>C	c.(553-555)gTa>gCa	p.V185A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCACTCTGTAATTGTTTCT	0.388																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(553-555)gTa>gCa		olfactory receptor, family 5, subfamily D, member 13							117.0	114.0	115.0					11																	55541467		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541467T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.554T>C	11.37:g.55541467T>C	ENSP00000354800:p.Val185Ala						p.V185A	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	554	+		all_epithelial(135;0.196)	185					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.554T>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	2.959	-0.215047	0.06101	.	.	ENSG00000198877	ENST00000361760	T	0.00042	8.84	3.3	-4.36	0.03645	GPCR, rhodopsin-like superfamily (1);	0.570900	0.13068	N	0.416305	T	0.00039	0.0001	N	0.00265	-1.74	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.36383	-0.9750	10	0.28530	T	0.3	-7.9122	15.0231	0.71647	0.0:0.8252:0.0:0.1748	.	185	Q8NGL4	OR5DD_HUMAN	A	185	ENSP00000354800:V185A	ENSP00000354800:V185A	V	+	2	0	OR5D13	55298043	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.604000	0.05667	-0.934000	0.03733	-0.523000	0.04350	GTA		0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		33	204	0	0	0	0.769981	0	33	204				
MMRN1	22915	broad.mit.edu	37	4	90857472	90857472	+	Nonsense_Mutation	SNP	A	A	T	rs377087842		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:90857472A>T	ENST00000394980.1	+	7	2960	c.2641A>T	c.(2641-2643)Aaa>Taa	p.K881*	MMRN1_ENST00000264790.2_Nonsense_Mutation_p.K881*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.K623*|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	881					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTTCAGTTAAAAAAGGCAG	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2641-2643)Aaa>Taa		multimerin 1		A	stop/LYS	0,4382		0,0,2191	41.0	44.0	43.0		2641	4.1	0.9	4		43	1,8585		0,1,4292	no	stop-gained	MMRN1	NM_007351.2		0,1,6483	TT,TA,AA		0.0116,0.0,0.0077		881/1229	90857472	1,12967	2191	4293	6484	SO:0001587	stop_gained	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857472A>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2641A>T	4.37:g.90857472A>T	ENSP00000378431:p.Lys881*					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.K623*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.K881*	p.K881*			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2960	+		Hepatocellular(203;0.114)	881					Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	c.2641A>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	42	9.471650	0.99180	0.0	1.16E-4	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.3	4.08	0.47627	.	0.063651	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7794	0.57469	0.8628:0.1372:0.0:0.0	.	.	.	.	X	881;881;623	.	ENSP00000264790:K881X	K	+	1	0	MMRN1	91076495	0.998000	0.40836	0.928000	0.36995	0.862000	0.49288	4.281000	0.58965	1.067000	0.40740	0.533000	0.62120	AAA		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	65	0	0	0	0.307466	0	8	65				
TMIGD2	126259	broad.mit.edu	37	19	4292863	4292863	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:4292863G>A	ENST00000301272.2	-	5	627	c.582C>T	c.(580-582)aaC>aaT	p.N194N	TMIGD2_ENST00000595645.1_Silent_p.N190N|TMIGD2_ENST00000600349.1_Silent_p.N22N|TMIGD2_ENST00000600114.1_Silent_p.N74N	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	194					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTATAGGACGTTGCTGTAGA	0.562																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(580-582)aaC>aaT		transmembrane and immunoglobulin domain containing 2							59.0	65.0	63.0					19																	4292863		2203	4300	6503	SO:0001819	synonymous_variant	126259					integral to membrane		g.chr19:4292863G>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.582C>T	19.37:g.4292863G>A						TMIGD2_ENST00000595645.1_Silent_p.N190N|TMIGD2_ENST00000600114.1_Silent_p.N74N|TMIGD2_ENST00000600349.1_Silent_p.N22N	p.N194N	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	627	-			194					Q6UW59	Silent	SNP	ENST00000301272.2	37	c.582C>T	CCDS12126.1																																																																																				0.562	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		24	134	0	0	0	0.750413	0	24	134				
C9	735	broad.mit.edu	37	5	39341764	39341764	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:39341764A>G	ENST00000263408.4	-	3	317	c.222T>C	c.(220-222)aaT>aaC	p.N74N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	74	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCTTTTCCCATTAAATTGTC	0.443																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(220-222)aaT>aaC		complement component 9							108.0	106.0	107.0					5																	39341764		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341764A>G		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.222T>C	5.37:g.39341764A>G						C9_ENST00000509186.1_5'UTR	p.N74N	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		3	317	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	74			TSP type-1.			Silent	SNP	ENST00000263408.4	37	c.222T>C	CCDS3929.1																																																																																				0.443	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			32	60	0	0	0	0.760397	0	32	60				
ZNF833P	401898	broad.mit.edu	37	19	11762502	11762502	+	lincRNA	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11762502G>C	ENST00000344893.3	+	0	514					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGAATGTAAAGATGGTCAATG	0.343																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														401898							g.chr19:11762502G>C	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11762502G>C								NR_028594.1						0	514	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.343	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		5	26	0	0	0	0.184627	0	5	26				
ELFN2	114794	broad.mit.edu	37	22	37769205	37769205	+	Silent	SNP	G	G	A	rs148494870		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:37769205G>A	ENST00000402918.2	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14983	0.0		0.001	False		,,,				2504	0.0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2368-2370)caC>caT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		0,4406		0,0,2203	97.0	89.0	91.0		2370	2.4	1.0	22	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ELFN2	NM_052906.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		790/821	37769205	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769205G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2370C>T	22.37:g.37769205G>A						ELFN2_ENST00000349653.3_Silent_p.H790H|RP1-63G5.5_ENST00000430883.1_RNA	p.H790H	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	3155	-	Melanoma(58;0.0574)		790					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2370C>T	CCDS33642.1																																																																																				0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		10	118	0	0	0	0.361761	0	10	118				
FAM124A	220108	broad.mit.edu	37	13	51826206	51826206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:51826206G>A	ENST00000322475.8	+	3	838	c.703G>A	c.(703-705)Gac>Aac	p.D235N	FAM124A_ENST00000280057.6_Missense_Mutation_p.D271N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	235								p.D271N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGCCCACCGACTCCTCCGT	0.602																																						ENST00000322475.8																			1	Substitution - Missense(1)	p.D271N(1)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(703-705)Gac>Aac		family with sequence similarity 124A							52.0	52.0	52.0					13																	51826206		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51826206G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.703G>A	13.37:g.51826206G>A	ENSP00000324625:p.Asp235Asn					FAM124A_ENST00000280057.6_Missense_Mutation_p.D271N	p.D235N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	838	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	235					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.703G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007993	0.54361	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.48836	0.8;0.8	5.79	4.94	0.65067	.	0.106709	0.64402	D	0.000008	T	0.64983	0.2648	M	0.63843	1.955	0.41329	D	0.987229	D;D;D	0.89917	1.0;0.996;0.975	D;P;P	0.66847	0.947;0.784;0.477	T	0.69401	-0.5155	10	0.72032	D	0.01	-21.6963	15.2908	0.73865	0.0:0.0:0.8588:0.1412	.	235;271;235	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	N	235;271	ENSP00000324625:D235N;ENSP00000280057:D271N	ENSP00000280057:D271N	D	+	1	0	FAM124A	50724207	1.000000	0.71417	0.885000	0.34714	0.057000	0.15508	9.230000	0.95299	1.431000	0.47355	-0.181000	0.13052	GAC		0.602	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		35	70	0	0	0	0.804634	0	35	70				
PDZD2	23037	broad.mit.edu	37	5	31983677	31983677	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983677A>C	ENST00000438447.1	+	3	1281	c.893A>C	c.(892-894)gAt>gCt	p.D298A	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298A			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAAAGACAGATGCTCCTCTG	0.517																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(892-894)gAt>gCt		PDZ domain containing 2							95.0	99.0	98.0					5																	31983677		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983677A>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.893A>C	5.37:g.31983677A>C	ENSP00000402033:p.Asp298Ala					PDZD2_ENST00000282493.3_Missense_Mutation_p.D298A	p.D298A			O15018	PDZD2_HUMAN			3	1281	+			298					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.893A>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469136	0.43839	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06294	3.32;3.32	5.47	4.28	0.50868	.	0.522579	0.16369	N	0.217395	T	0.04137	0.0115	N	0.24115	0.695	0.26617	N	0.972731	B;P	0.40970	0.255;0.734	B;B	0.35114	0.039;0.196	T	0.37753	-0.9692	10	0.16896	T	0.51	.	9.3394	0.38071	0.8191:0.1809:0.0:0.0	.	124;298	B4E3P2;O15018	.;PDZD2_HUMAN	A	298	ENSP00000402033:D298A;ENSP00000282493:D298A	ENSP00000282493:D298A	D	+	2	0	PDZD2	32019434	0.968000	0.33430	0.646000	0.29493	0.967000	0.64934	2.604000	0.46274	0.881000	0.35993	0.528000	0.53228	GAT		0.517	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			38	188	0	0	0	0.819951	0	38	188				
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G	rs202244345	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647																																						ENST00000270458.2																			2	Substitution - Missense(2)	p.V146G(2)	urinary_tract(1)|kidney(1)	kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(436-438)gTg>gGg		calcium channel, voltage-dependent, gamma subunit 8							34.0	35.0	35.0					19																	54483190		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483190T>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.437T>G	19.37:g.54483190T>G	ENSP00000270458:p.Val146Gly						p.V146G	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	540	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		146					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.437T>G	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741359	0.89573	.	.	ENSG00000142408	ENST00000270458	D	0.89415	-2.51	4.53	4.53	0.55603	.	0.191865	0.32671	U	0.005796	D	0.90947	0.7154	L	0.39633	1.23	0.32725	N	0.509773	D	0.76494	0.999	D	0.73380	0.98	D	0.93456	0.6806	9	0.72032	D	0.01	4.3012	12.2158	0.54406	0.0:0.0:0.0:1.0	.	146	Q8WXS5	CCG8_HUMAN	G	146	ENSP00000270458:V146G	ENSP00000270458:V146G	V	+	2	0	CACNG8	59175002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.508000	0.81686	1.851000	0.53745	0.434000	0.28630	GTG		0.647	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			6	23	0	0	0	0.248553	0	6	23				
GRM8	2918	broad.mit.edu	37	7	126173263	126173263	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:126173263A>T	ENST00000339582.2	-	9	2981	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Y725N|GRM8_ENST00000358373.3_Missense_Mutation_p.Y725N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	725					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGCTCTCCATAGTCAATGATG	0.502										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2173-2175)Tat>Aat		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						82.0	68.0	73.0					7																	126173263		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173263A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2173T>A	7.37:g.126173263A>T	ENSP00000344173:p.Tyr725Asn	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Y725N|GRM8_ENST00000444921.2_Missense_Mutation_p.Y725N	p.Y725N			O00222	GRM8_HUMAN			9	2981	-		Prostate(267;0.186)	725					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2173T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156968	0.78114	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89810	-2.49;-2.49;-2.57	5.61	5.61	0.85477	GPCR, family 3, C-terminal (2);	0.057425	0.64402	D	0.000001	D	0.94338	0.8180	M	0.87547	2.89	0.80722	D	1	D;P	0.67145	0.996;0.953	P;P	0.61201	0.885;0.811	D	0.95190	0.8307	10	0.87932	D	0	.	14.9887	0.71368	1.0:0.0:0.0:0.0	.	725;725	O00222-2;O00222	.;GRM8_HUMAN	N	725	ENSP00000344173:Y725N;ENSP00000409790:Y725N;ENSP00000351142:Y725N	ENSP00000344173:Y725N	Y	-	1	0	GRM8	125960499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.147000	0.66899	0.533000	0.62120	TAT		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			20	45	0	0	0	0.654019	0	20	45				
USH1C	10083	broad.mit.edu	37	11	17547981	17547981	+	Missense_Mutation	SNP	C	C	A	rs397517883		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:17547981C>A	ENST00000318024.4	-	8	695	c.587G>T	c.(586-588)cGa>cTa	p.R196L	USH1C_ENST00000005226.7_Missense_Mutation_p.R196L|USH1C_ENST00000527020.1_Missense_Mutation_p.R196L|USH1C_ENST00000527720.1_Missense_Mutation_p.R165L	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	196					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGCTGCCTCGCACGCCCTG	0.597																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(586-588)cGa>cTa		Usher syndrome 1C (autosomal recessive, severe)							72.0	55.0	60.0					11																	17547981		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17547981C>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.587G>T	11.37:g.17547981C>A	ENSP00000317018:p.Arg196Leu					USH1C_ENST00000527720.1_Missense_Mutation_p.R165L|USH1C_ENST00000527020.1_Missense_Mutation_p.R196L|USH1C_ENST00000318024.4_Missense_Mutation_p.R196L	p.R196L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			8	586	-			196					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.587G>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172208	0.57584	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.28255	1.65;1.62;1.92;1.72;2.02	5.79	2.84	0.33178	PDZ/DHR/GLGF (1);	0.500026	0.19874	N	0.104140	T	0.18299	0.0439	L	0.27053	0.805	0.24173	N	0.995614	P;B;P	0.52061	0.6;0.001;0.95	B;B;B	0.41202	0.193;0.001;0.35	T	0.10086	-1.0645	10	0.23302	T	0.38	.	7.7364	0.28817	0.0:0.6623:0.0:0.3377	.	196;196;196	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	L	196;165;196;196;207	ENSP00000317018:R196L;ENSP00000432944:R165L;ENSP00000436934:R196L;ENSP00000005226:R196L;ENSP00000437128:R207L	ENSP00000005226:R196L	R	-	2	0	USH1C	17504557	0.100000	0.21855	0.017000	0.16124	0.017000	0.09413	0.322000	0.19576	0.330000	0.23485	0.650000	0.86243	CGA		0.597	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		4	41	1	0	0.00024832	0.150653	0.000263472	4	41				
CFHR5	81494	broad.mit.edu	37	1	196973835	196973835	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196973835G>C	ENST00000256785.4	+	9	1484	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	CFHR5_ENST00000367414.5_Missense_Mutation_p.D483H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	459	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAACAATGGAGATACCACCTC	0.398																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1447-1449)Gat>Cat		complement factor H-related 5							139.0	135.0	136.0					1																	196973835		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196973835G>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1375G>C	1.37:g.196973835G>C	ENSP00000256785:p.Asp459His					CFHR5_ENST00000256785.4_Missense_Mutation_p.D459H	p.D483H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			9	1503	+			459			Sushi 8.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1447G>C	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881026	0.51801	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.48522	0.81;0.81	3.69	2.76	0.32466	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.59059	0.2166	M	0.66378	2.025	0.27652	N	0.94735	D	0.89917	1.0	D	0.80764	0.994	T	0.49943	-0.8885	9	0.14252	T	0.57	.	7.4232	0.27083	0.1298:0.0:0.8702:0.0	.	459	Q9BXR6	FHR5_HUMAN	H	483;459	ENSP00000356384:D483H;ENSP00000256785:D459H	ENSP00000256785:D459H	D	+	1	0	CFHR5	195240458	1.000000	0.71417	0.183000	0.23137	0.280000	0.26924	3.184000	0.50926	0.644000	0.30656	0.491000	0.48974	GAT		0.398	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		56	191	0	0	0	0.870114	0	56	191				
KCNV2	169522	broad.mit.edu	37	9	2718222	2718222	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:2718222C>G	ENST00000382082.3	+	1	721	c.483C>G	c.(481-483)gtC>gtG	p.V161V		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	161					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCCAGCTGGTCTACAATTTCT	0.642																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(481-483)gtC>gtG		potassium channel, subfamily V, member 2							27.0	24.0	25.0					9																	2718222		2202	4300	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718222C>G	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.483C>G	9.37:g.2718222C>G							p.V161V	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	721	+			161					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.483C>G	CCDS6447.1																																																																																				0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		6	29	0	0	0	0.248553	0	6	29				
SI	6476	broad.mit.edu	37	3	164700056	164700056	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:164700056G>A	ENST00000264382.3	-	47	5452	c.5390C>T	c.(5389-5391)cCt>cTt	p.P1797L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1797	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCATTAAAAGGAAGCGAATT	0.358										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5389-5391)cCt>cTt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						108.0	104.0	105.0					3																	164700056		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700056G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5390C>T	3.37:g.164700056G>A	ENSP00000264382:p.Pro1797Leu	HNSCC(35;0.089)					p.P1797L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			47	5452	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1797			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5390C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849680	0.17034	.	.	ENSG00000090402	ENST00000264382	D	0.88431	-2.38	4.36	-8.72	0.00845	.	22.212500	0.00166	N	0.000000	T	0.77315	0.4112	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64390	-0.6419	10	0.27082	T	0.32	.	2.1356	0.03761	0.1561:0.1803:0.1439:0.5197	.	1797	P14410	SUIS_HUMAN	L	1797	ENSP00000264382:P1797L	ENSP00000264382:P1797L	P	-	2	0	SI	166182750	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.194000	0.01243	-2.185000	0.00761	-0.282000	0.10007	CCT		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		33	89	0	0	0	0.779181	0	33	89				
SVIL	6840	broad.mit.edu	37	10	29822126	29822126	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:29822126C>A	ENST00000355867.4	-	8	1922	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.E390D	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	390					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCAGCTACACTCAGATGCAT	0.562																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1168-1170)gaG>gaT		supervillin							86.0	72.0	77.0					10																	29822126		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822126C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1170G>T	10.37:g.29822126C>A	ENSP00000348128:p.Glu390Asp					SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E390D	p.E390D			O95425	SVIL_HUMAN			10	1619	-		Breast(68;0.103)	390					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1170G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495712	0.26774	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.52526	0.66;0.66	5.77	-0.511	0.11970	.	0.395194	0.26665	N	0.023131	T	0.32645	0.0836	M	0.63428	1.95	0.09310	N	1	B	0.34015	0.435	B	0.27262	0.078	T	0.11767	-1.0574	9	.	.	.	-27.9829	2.7127	0.05179	0.1174:0.4223:0.1052:0.3551	.	390	O95425	SVIL_HUMAN	D	390	ENSP00000364547:E390D;ENSP00000348128:E390D	.	E	-	3	2	SVIL	29862132	0.008000	0.16893	0.036000	0.18154	0.015000	0.08874	0.081000	0.14823	0.149000	0.19098	0.655000	0.94253	GAG		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			32	87	1	0	2.20262e-25	0.769981	2.8846e-25	32	87				
ZNF440	126070	broad.mit.edu	37	19	11943025	11943025	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11943025G>A	ENST00000304060.5	+	4	1198	c.1034G>A	c.(1033-1035)tGt>tAt	p.C345Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	345					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTAAGATATGTGGAAAAGAC	0.363																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1033-1035)tGt>tAt		zinc finger protein 440							50.0	51.0	51.0					19																	11943025		2202	4300	6502	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943025G>A	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1034G>A	19.37:g.11943025G>A	ENSP00000305373:p.Cys345Tyr						p.C345Y	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1198	+			345					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1034G>A	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	10.25	1.298327	0.23650	.	.	ENSG00000171295	ENST00000304060	D	0.85861	-2.04	0.91	0.91	0.19337	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89269	0.6667	M	0.93763	3.455	0.36584	D	0.873698	P	0.43412	0.806	P	0.46320	0.512	D	0.91142	0.4946	9	0.72032	D	0.01	.	9.3385	0.38065	0.0:0.0:1.0:0.0	.	345	Q8IYI8	ZN440_HUMAN	Y	345	ENSP00000305373:C345Y	ENSP00000305373:C345Y	C	+	2	0	ZNF440	11804025	1.000000	0.71417	0.002000	0.10522	0.022000	0.10575	7.355000	0.79434	0.806000	0.34183	0.205000	0.17691	TGT		0.363	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		17	70	0	0	0	0.500413	0	17	70				
ABCA10	10349	broad.mit.edu	37	17	67218723	67218723	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:67218723A>G	ENST00000269081.4	-	5	1059	c.150T>C	c.(148-150)ttT>ttC	p.F50F	ABCA10_ENST00000432313.2_Silent_p.F50F|ABCA10_ENST00000416101.2_Silent_p.F50F|ABCA10_ENST00000423818.2_Silent_p.F50F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	50					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATCCCCAATTAAACTTCAGGC	0.333																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(148-150)ttT>ttC		ATP-binding cassette, sub-family A (ABC1), member 10							91.0	91.0	91.0					17																	67218723		2203	4297	6500	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67218723A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.150T>C	17.37:g.67218723A>G						ABCA10_ENST00000432313.2_Silent_p.F50F|ABCA10_ENST00000423818.2_Silent_p.F50F|ABCA10_ENST00000416101.2_Silent_p.F50F	p.F50F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			5	1059	-	Breast(10;6.95e-12)		50					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.150T>C	CCDS11684.1																																																																																				0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		91	106	0	0	0	0.870114	0	91	106				
RETSAT	54884	broad.mit.edu	37	2	85581597	85581597	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:85581597G>A	ENST00000295802.4	-	1	146	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	ELMOD3_ENST00000315658.7_5'Flank|ELMOD3_ENST00000409344.3_5'Flank|ELMOD3_ENST00000409013.3_5'Flank|ELMOD3_ENST00000409890.2_5'Flank|ELMOD3_ENST00000393852.4_5'Flank|ELMOD3_ENST00000428955.2_5'Flank|RETSAT_ENST00000457495.2_Silent_p.L12L|RETSAT_ENST00000263854.6_Silent_p.L12L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	12					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.L12L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCCAGCAGCAGCACAGCCAGG	0.622																																						ENST00000295802.4																			1	Substitution - coding silent(1)	p.L12L(1)	breast(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(34-36)Ctg>Ttg		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						48.0	55.0	53.0					2																	85581597		2203	4300	6503	SO:0001819	synonymous_variant	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85581597G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.34C>T	2.37:g.85581597G>A						RETSAT_ENST00000263854.6_Silent_p.L12L|RETSAT_ENST00000457495.2_Silent_p.L12L	p.L12L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			1	146	-			12					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	c.34C>T	CCDS1972.1																																																																																				0.622	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		31	59	0	0	0	0.769981	0	31	59				
CARD14	79092	broad.mit.edu	37	17	78175565	78175565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78175565C>T	ENST00000573882.1	+	16	2410	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000570421.1_Missense_Mutation_p.P625L|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000392434.2_Intron|CARD14_ENST00000344227.2_Missense_Mutation_p.P625L|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	625	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCTCAGAGCCCTTGTTCAAG	0.597																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1873-1875)cCc>cTc		caspase recruitment domain family, member 14							105.0	88.0	94.0					17																	78175565		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78175565C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1874C>T	17.37:g.78175565C>T	ENSP00000458715:p.Pro625Leu					RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.P625L|CARD14_ENST00000392434.2_Intron|CARD14_ENST00000570421.1_Missense_Mutation_p.P625L|RP11-334C17.5_ENST00000573346.1_RNA	p.P625L			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		16	2410	+	all_neural(118;0.0952)		625	DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).		PDZ.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1874C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194805	0.58017	.	.	ENSG00000141527	ENST00000344227	T	0.25749	1.78	4.56	2.48	0.30137	PDZ/DHR/GLGF (3);	0.797840	0.11502	N	0.557634	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	0.999999	P	0.35844	0.524	B	0.28849	0.095	T	0.12553	-1.0543	10	0.56958	D	0.05	-17.7937	9.7758	0.40618	0.0:0.7704:0.144:0.0856	.	625	Q9BXL6	CAR14_HUMAN	L	625	ENSP00000344549:P625L	ENSP00000344549:P625L	P	+	2	0	CARD14	75790160	0.002000	0.14202	0.013000	0.15412	0.735000	0.41995	1.231000	0.32624	1.025000	0.39708	0.650000	0.86243	CCC		0.597	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			4	104	0	0	0	0.150653	0	4	104				
IMPAD1	54928	broad.mit.edu	37	8	57890701	57890701	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:57890701T>G	ENST00000262644.4	-	3	812	c.554A>C	c.(553-555)gAt>gCt	p.D185A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	185					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTTTCGAAGATCCTCTATGAG	0.313																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(553-555)gAt>gCt		inositol monophosphatase domain containing 1							111.0	111.0	111.0					8																	57890701		2203	4300	6503	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57890701T>G		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.554A>C	8.37:g.57890701T>G	ENSP00000262644:p.Asp185Ala						p.D185A	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			3	812	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	185					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.554A>C	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392037	0.62066	.	.	ENSG00000104331	ENST00000262644	D	0.82433	-1.61	6.02	6.02	0.97574	.	0.204155	0.50627	D	0.000108	T	0.75598	0.3871	N	0.21373	0.66	0.52099	D	0.999947	B	0.31705	0.336	B	0.37047	0.24	T	0.72010	-0.4419	10	0.19147	T	0.46	-7.9622	15.7258	0.77756	0.0:0.0:0.0:1.0	.	185	Q9NX62	IMPA3_HUMAN	A	185	ENSP00000262644:D185A	ENSP00000262644:D185A	D	-	2	0	IMPAD1	58053255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.102000	0.64572	2.311000	0.77944	0.533000	0.62120	GAT		0.313	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		12	349	0	0	0	0.457914	0	12	349				
OR1B1	347169	broad.mit.edu	37	9	125391138	125391138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125391138C>A	ENST00000304833.3	-	1	714	c.677G>T	c.(676-678)cGa>cTa	p.R226L	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542																																						ENST00000304833.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(676-678)cGa>cTa		olfactory receptor, family 1, subfamily B, member 1							65.0	65.0	65.0					9																	125391138		2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391138C>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.677G>T	9.37:g.125391138C>A	ENSP00000303151:p.Arg226Leu					RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	p.R226L	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN			1	714	-			226					Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.677G>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	c	2.411	-0.335384	0.05278	.	.	ENSG00000171484	ENST00000304833	T	0.00042	8.84	4.61	-0.52	0.11935	GPCR, rhodopsin-like superfamily (1);	0.167504	0.28349	N	0.015672	T	0.00073	0.0002	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.28299	-1.0048	10	0.45353	T	0.12	-1.3283	3.9388	0.09318	0.2561:0.4467:0.0:0.2971	.	226	Q8NGR6	OR1B1_HUMAN	L	226	ENSP00000303151:R226L	ENSP00000303151:R226L	R	-	2	0	OR1B1	124430959	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.351000	0.02622	-0.194000	0.10399	-0.148000	0.13756	CGA		0.542	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		19	64	1	0	2.94398e-08	0.557998	3.40025e-08	19	64				
ATXN2L	11273	broad.mit.edu	37	16	28840776	28840776	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:28840776G>T	ENST00000336783.4	+	7	963	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L	ATXN2L_ENST00000382686.4_Missense_Mutation_p.V266L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V266L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V266L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V266L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V266L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	266					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAACTACGGTGTGAAGACTAC	0.463																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(796-798)Gtg>Ttg		ataxin 2-like							191.0	160.0	170.0					16																	28840776		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28840776G>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.796G>T	16.37:g.28840776G>T	ENSP00000338718:p.Val266Leu					ATXN2L_ENST00000570200.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V266L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V266L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V266L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V266L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V266L	p.V266L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			7	963	+			266					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.796G>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.860331	0.91433	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.60548	0.21;0.19;0.18;0.19;0.19	5.3	4.35	0.52113	LsmAD domain (1);	0.000000	0.64402	D	0.000017	T	0.70692	0.3253	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.996;0.996;0.997;0.997;0.996;0.996;0.997;0.996	D;D;D;D;D;D;D;D	0.79108	0.987;0.987;0.992;0.992;0.987;0.987;0.992;0.987	T	0.71374	-0.4612	10	0.48119	T	0.1	-4.1949	13.2004	0.59765	0.0789:0.0:0.9211:0.0	.	266;266;266;266;266;266;266;266	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	L	266	ENSP00000341459:V266L;ENSP00000378917:V266L;ENSP00000338718:V266L;ENSP00000372133:V266L;ENSP00000315650:V266L	ENSP00000315650:V266L	V	+	1	0	ATXN2L	28748277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.336000	0.65935	1.252000	0.44001	0.558000	0.71614	GTG		0.463	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		23	79	1	0	1.10513e-12	0.624587	1.34594e-12	23	79				
IRX6	79190	broad.mit.edu	37	16	55362806	55362806	+	Missense_Mutation	SNP	C	C	T	rs200259402		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:55362806C>T	ENST00000290552.7	+	5	2248	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCGATTGGAGCGCAGGGAGTG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15373	0.0		0.0	False		,,,				2504	0.0					ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(916-918)Cgc>Tgc		iroquois homeobox 6							46.0	50.0	49.0					16																	55362806		2196	4297	6493	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362806C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.916C>T	16.37:g.55362806C>T	ENSP00000290552:p.Arg306Cys					RP11-26L20.3_ENST00000558730.2_RNA	p.R306C	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2248	+			306					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.916C>T	CCDS32449.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.78	3.697655	0.68386	.	.	ENSG00000159387	ENST00000290552	D	0.90197	-2.63	5.27	1.95	0.26073	.	0.618078	0.16748	N	0.201144	D	0.82522	0.5055	N	0.24115	0.695	0.23366	N	0.997828	D	0.63880	0.993	B	0.44315	0.446	T	0.74777	-0.3550	10	0.56958	D	0.05	-15.6593	6.4665	0.21985	0.4658:0.3895:0.1448:0.0	.	306	P78412	IRX6_HUMAN	C	306	ENSP00000290552:R306C	ENSP00000290552:R306C	R	+	1	0	IRX6	53920307	0.005000	0.15991	1.000000	0.80357	0.884000	0.51177	0.804000	0.27098	1.130000	0.42092	0.462000	0.41574	CGC		0.662	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		8	127	0	0	0	0.278610	0	8	127				
HIST1H2BN	8341	broad.mit.edu	37	6	27806588	27806588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:27806588A>G	ENST00000396980.3	+	1	149	c.149A>G	c.(148-150)cAc>cGc	p.H50R	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.H50R	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	50					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AAGCAGGTCCACCCCGACACC	0.597																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(148-150)cAc>cGc		histone cluster 1, H2bn							229.0	206.0	214.0					6																	27806588		2203	4298	6501	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806588A>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.149A>G	6.37:g.27806588A>G	ENSP00000380177:p.His50Arg					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.H50R	p.H50R			Q99877	H2B1N_HUMAN			1	210	+			50					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.149A>G	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.059998	0.55325	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.23147	1.92;1.92	4.05	4.05	0.47172	Histone-fold (2);Histone core (1);	0.000000	0.32134	U	0.006525	T	0.59252	0.2180	H	0.98646	4.29	0.32887	D	0.511314	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74976	-0.3480	10	0.87932	D	0	.	13.2432	0.60008	1.0:0.0:0.0:0.0	.	50;50	Q99877;B2R4S9	H2B1N_HUMAN;.	R	50	ENSP00000446031:H50R;ENSP00000380177:H50R	ENSP00000380177:H50R	H	+	2	0	HIST1H2BN	27914567	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.714000	0.91412	2.052000	0.61016	0.529000	0.55759	CAC		0.597	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		89	305	0	0	0	0.870114	0	89	305				
FAM179B	23116	broad.mit.edu	37	14	45431656	45431656	+	Missense_Mutation	SNP	T	T	A	rs201842534		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45431656T>A	ENST00000361577.3	+	1	246	c.32T>A	c.(31-33)cTg>cAg	p.L11Q	FAM179B_ENST00000361462.2_Missense_Mutation_p.L11Q|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L11Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	11										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCTTCTGCTGCCGCCCTTT	0.612																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(31-33)cTg>cAg		family with sequence similarity 179, member B							20.0	23.0	22.0					14																	45431656		2198	4298	6496	SO:0001583	missense	23116						binding	g.chr14:45431656T>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.32T>A	14.37:g.45431656T>A	ENSP00000355045:p.Leu11Gln					FAM179B_ENST00000382233.2_Missense_Mutation_p.L11Q|FAM179B_ENST00000361577.3_Missense_Mutation_p.L11Q	p.L11Q			Q9Y4F4	F179B_HUMAN			1	215	+			11					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.32T>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127390	0.37533	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.39056	2.29;2.29;1.1	4.88	1.16	0.20824	.	0.208534	0.24018	N	0.042313	T	0.36110	0.0955	N	0.19112	0.55	0.21499	N	0.99967	P;P;P;P	0.48503	0.911;0.911;0.911;0.911	P;P;P;P	0.55577	0.702;0.779;0.779;0.702	T	0.11397	-1.0589	10	0.42905	T	0.14	-0.3119	6.7955	0.23722	0.0:0.2872:0.0:0.7128	.	11;11;11;11	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	Q	11	ENSP00000355045:L11Q;ENSP00000354917:L11Q;ENSP00000371668:L11Q	ENSP00000354917:L11Q	L	+	2	0	FAM179B	44501406	0.796000	0.28864	0.772000	0.31596	0.796000	0.44982	0.573000	0.23699	0.365000	0.24400	0.533000	0.62120	CTG		0.612	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	49	0	0	0	0.248553	0	4	49				
PRRG1	5638	broad.mit.edu	37	X	37285132	37285132	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:37285132G>A	ENST00000542554.1	+	4	322	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PRRG1_ENST00000463135.1_Missense_Mutation_p.R17H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R17H|PRRG1_ENST00000449135.2_Missense_Mutation_p.R17H|PRRG1_ENST00000543642.1_Missense_Mutation_p.R17H|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.R17H	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	17						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ATATTAAAACGCTACCCAAGA	0.358																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(49-51)cGc>cAc		proline rich Gla (G-carboxyglutamic acid) 1							52.0	50.0	51.0					X																	37285132		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37285132G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.50G>A	X.37:g.37285132G>A	ENSP00000444278:p.Arg17His					PRRG1_ENST00000463135.1_Missense_Mutation_p.R17H|PRRG1_ENST00000378628.4_Missense_Mutation_p.R17H|PRRG1_ENST00000449135.2_Missense_Mutation_p.R17H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R17H|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000543642.1_Missense_Mutation_p.R17H	p.R17H	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			4	322	+			17					B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.50G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817473	0.70912	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99656	-6.25;-6.17;-6.25;-6.25;-6.3;-6.25;-6.31;-3.55	4.94	4.94	0.65067	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.182348	0.45606	D	0.000350	D	0.99704	0.9887	H	0.95917	3.74	0.46701	D	0.999162	D	0.76494	0.999	D	0.63192	0.912	D	0.97347	0.9961	10	0.87932	D	0	-8.2295	14.5905	0.68362	0.0:0.0:1.0:0.0	.	17	O14668	TMG1_HUMAN	H	17	ENSP00000367894:R17H;ENSP00000418384:R17H;ENSP00000444278:R17H;ENSP00000443271:R17H;ENSP00000420353:R17H;ENSP00000390332:R17H;ENSP00000419999:R17H;ENSP00000417050:R17H	ENSP00000367894:R17H	R	+	2	0	RP5-972B16.2;PRRG1	37170053	1.000000	0.71417	0.963000	0.40424	0.434000	0.31775	8.178000	0.89690	2.026000	0.59711	0.544000	0.68410	CGC		0.358	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		4	51	0	0	0	0.150653	0	4	51				
CRB1	23418	broad.mit.edu	37	1	197396747	197396747	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:197396747T>A	ENST00000367400.3	+	7	2427	c.2292T>A	c.(2290-2292)cgT>cgA	p.R764R	CRB1_ENST00000367399.2_Silent_p.R652R|CRB1_ENST00000535699.1_Silent_p.R695R|CRB1_ENST00000544212.1_Silent_p.R245R|CRB1_ENST00000367397.1_Silent_p.R145R|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	764	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> C (in RP12 and LCA8). {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12700176, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:15691574, ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:20956273}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATATATCCGTGTCTGGCTAG	0.428																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(433-435)cgT>cgA		crumbs homolog 1 (Drosophila)							61.0	57.0	58.0					1																	197396747		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396747T>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2292T>A	1.37:g.197396747T>A						CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.R695R|CRB1_ENST00000367400.3_Silent_p.R764R|CRB1_ENST00000544212.1_Silent_p.R245R|CRB1_ENST00000367399.2_Silent_p.R652R	p.R145R			P82279	CRUM1_HUMAN			3	1293	+			764			EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.435T>A	CCDS1390.1																																																																																				0.428	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		21	57	0	0	0	0.624587	0	21	57				
LFNG	3955	broad.mit.edu	37	7	2559807	2559807	+	Silent	SNP	C	C	T	rs552455490	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:2559807C>T	ENST00000222725.5	+	1	332	c.312C>T	c.(310-312)cgC>cgT	p.R104R	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Silent_p.R104R|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	104				R -> A (in Ref. 5; AAF07187). {ECO:0000305}.	compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gccacccgcgccccctggccg	0.726													C|||	2	0.000399361	0.0015	0.0	5008	,	,		6357	0.0		0.0	False		,,,				2504	0.0					ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(310-312)cgC>cgT		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							5.0	6.0	6.0					7																	2559807		1642	3665	5307	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559807C>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.312C>T	7.37:g.2559807C>T						LFNG_ENST00000359574.3_Silent_p.R104R|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	p.R104R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	332	+		Ovarian(82;0.0112)	104	R -> A (in Ref. 3; AAF07187).				B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.312C>T	CCDS34587.1																																																																																				0.726	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		7	7	0	0	0	0.278610	0	7	7				
YARS2	51067	broad.mit.edu	37	12	32903773	32903773	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:32903773T>A	ENST00000324868.8	-	3	1010	c.983A>T	c.(982-984)gAg>gTg	p.E328V	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	328					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGATCAATCTCTGGAAGGGG	0.423																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(982-984)gAg>gTg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						81.0	76.0	77.0					12																	32903773		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903773T>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.983A>T	12.37:g.32903773T>A	ENSP00000320658:p.Glu328Val						p.E328V	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1010	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		328					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.983A>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129409	0.56721	.	.	ENSG00000139131	ENST00000324868	T	0.52754	0.65	5.06	5.06	0.68205	.	0.054186	0.64402	D	0.000001	T	0.57636	0.2067	M	0.82433	2.59	0.80722	D	1	P	0.43750	0.816	P	0.45232	0.474	T	0.65990	-0.6034	10	0.66056	D	0.02	-5.3095	13.6844	0.62506	0.0:0.0:0.0:1.0	.	328	Q9Y2Z4	SYYM_HUMAN	V	328	ENSP00000320658:E328V	ENSP00000320658:E328V	E	-	2	0	YARS2	32795040	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.573000	0.82421	2.036000	0.60181	0.528000	0.53228	GAG		0.423	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		30	122	0	0	0	0.760397	0	30	122				
PDZRN4	29951	broad.mit.edu	37	12	41961614	41961614	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:41961614G>A	ENST00000402685.2	+	9	1505	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	PDZRN4_ENST00000298919.7_Silent_p.R239R|PDZRN4_ENST00000539469.2_Silent_p.R241R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	499							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGATGAAAGGAATGAATTCT	0.388																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(715-717)agG>agA		PDZ domain containing ring finger 4							82.0	78.0	79.0					12																	41961614		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41961614G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1497G>A	12.37:g.41961614G>A						PDZRN4_ENST00000402685.2_Silent_p.R499R|PDZRN4_ENST00000539469.2_Silent_p.R241R	p.R239R			Q6ZMN7	PZRN4_HUMAN			9	1105	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	499			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.717G>A	CCDS53777.1																																																																																				0.388	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		21	78	0	0	0	0.575678	0	21	78				
IGLV1-40	28825	broad.mit.edu	37	22	22764336	22764336	+	RNA	SNP	G	G	A	rs368718524		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:22764336G>A	ENST00000390299.2	+	0	129									immunoglobulin lambda variable 1-40																		TGACGCAGCCGCCCTCAGTGT	0.582											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390299.2																			0															G		0,3782		0,0,1891	91.0	97.0	95.0			-6.1	0.0	22		95	2,8198		0,2,4098	no	intergenic				0,2,5989	AA,AG,GG		0.0244,0.0,0.0167			22764336	2,11980	1891	4100	5991			28825							g.chr22:22764336G>A	M94116		22q11.2	2012-02-08			ENSG00000211653	ENSG00000211653		"""Immunoglobulins / IGL locus"""	5877	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151072		22.37:g.22764336G>A			OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	758									0	129	+									RNA	SNP	ENST00000390299.2	37																																																																																						0.582	IGLV1-40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321176.1	NG_000002		60	205	0	0	0	0.870114	0	60	205				
CAD	790	broad.mit.edu	37	2	27465288	27465288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:27465288G>A	ENST00000403525.1	+	39	6170	c.6026G>A	c.(6025-6027)gGc>gAc	p.G2009D	CAD_ENST00000264705.4_Missense_Mutation_p.G2072D			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTCAATGGCATGACGGTG	0.612																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6214-6216)gGc>gAc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						37.0	37.0	37.0					2																	27465288		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465288G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6026G>A	2.37:g.27465288G>A	ENSP00000384510:p.Gly2009Asp					CAD_ENST00000403525.1_Missense_Mutation_p.G2009D	p.G2072D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			40	6377	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2072			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6215G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.043957|5.043957	0.93685|0.93685	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99298	.|-5.71;-5.71	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99080|0.99080	0.9684|0.9684	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51240	.|0.943;0.629	.|P;B	.|0.58520	.|0.84;0.322	D|D	0.99712|0.99712	1.1007|1.1007	5|10	.|0.56958	.|D	.|0.05	-7.8337|-7.8337	17.3962|17.3962	0.87446|0.87446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2009;2072	.|F8VPD4;P27708	.|.;PYR1_HUMAN	T|D	108|2072;2009	.|ENSP00000264705:G2072D;ENSP00000384510:G2009D	.|ENSP00000264705:G2072D	A|G	+|+	1|2	0|0	CAD|CAD	27318792|27318792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	9.148000|9.148000	0.94652|0.94652	2.429000|2.429000	0.82318|0.82318	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			3	47	0	0	0	0.115264	0	3	47				
WDR24	84219	broad.mit.edu	37	16	739435	739435	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:739435C>A	ENST00000248142.6	-	3	391	c.392G>T	c.(391-393)cGc>cTc	p.R131L	WDR24_ENST00000293883.4_Missense_Mutation_p.R69L|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	131								p.R131H(1)|p.R69H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGAAGGCTTGCGCCCCACACG	0.602																																						ENST00000293883.4																			2	Substitution - Missense(2)	p.R131H(1)|p.R69H(1)	kidney(2)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(205-207)cGc>cTc		WD repeat domain 24							86.0	78.0	81.0					16																	739435		2200	4300	6500	SO:0001583	missense	84219							g.chr16:739435C>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.392G>T	16.37:g.739435C>A	ENSP00000248142:p.Arg131Leu					WDR24_ENST00000248142.6_Missense_Mutation_p.R131L	p.R69L	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			1	965	-		Hepatocellular(780;0.0218)	131					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.206G>T		.	.	.	.	.	.	.	.	.	.	c	32	5.180021	0.94846	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.28454	1.61;1.61	4.61	4.61	0.57282	.	0.128514	0.53938	D	0.000058	T	0.47040	0.1424	M	0.63843	1.955	0.53005	D	0.999968	D	0.56035	0.974	P	0.55545	0.778	T	0.49072	-0.8977	10	0.52906	T	0.07	-11.0837	16.4351	0.83872	0.0:1.0:0.0:0.0	.	69	Q96S15-2	.	L	131;69	ENSP00000248142:R131L;ENSP00000293883:R69L	ENSP00000248142:R131L	R	-	2	0	WDR24	679436	1.000000	0.71417	0.996000	0.52242	0.803000	0.45373	7.197000	0.77814	2.112000	0.64535	0.561000	0.74099	CGC		0.602	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		25	54	1	0	5.35047e-06	0.654019	5.93864e-06	25	54				
FGF23	8074	broad.mit.edu	37	12	4479673	4479673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479673G>A	ENST00000237837.1	-	3	737	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	198					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R198W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGGTCATCCGGGCCCGGGGC	0.697																																						ENST00000237837.1																			1	Substitution - Missense(1)	p.R198W(1)	pancreas(1)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(592-594)Cgg>Tgg		fibroblast growth factor 23							16.0	20.0	19.0					12																	4479673		2193	4293	6486	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479673G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.592C>T	12.37:g.4479673G>A	ENSP00000237837:p.Arg198Trp						p.R198W	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	737	-			198					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.592C>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026538	0.35797	.	.	ENSG00000118972	ENST00000237837	D	0.94897	-3.55	4.58	3.6	0.41247	.	0.185412	0.47852	D	0.000218	D	0.94608	0.8262	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87940	0.2716	10	0.72032	D	0.01	-7.2658	12.147	0.54028	0.0:0.0:0.8175:0.1824	.	198	Q9GZV9	FGF23_HUMAN	W	198	ENSP00000237837:R198W	ENSP00000237837:R198W	R	-	1	2	FGF23	4349934	0.990000	0.36364	0.290000	0.24890	0.015000	0.08874	3.301000	0.51842	2.355000	0.79922	0.549000	0.68633	CGG		0.697	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			12	50	0	0	0	0.387290	0	12	50				
PAX3	5077	broad.mit.edu	37	2	223158889	223158889	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:223158889G>T	ENST00000350526.4	-	4	719	c.583C>A	c.(583-585)Cga>Aga	p.R195R	PAX3_ENST00000258387.5_Silent_p.R195R|PAX3_ENST00000392070.2_Silent_p.R195R|PAX3_ENST00000409828.3_Silent_p.R195R|PAX3_ENST00000336840.6_Silent_p.R195R|PAX3_ENST00000392069.2_Silent_p.R195R|PAX3_ENST00000344493.4_Silent_p.R195R|PAX3_ENST00000409551.3_Silent_p.R194R	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTACCTCGCTCGCTCAGG	0.612			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)Cga>Aga		paired box 3							239.0	174.0	196.0					2																	223158889		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223158889G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.583C>A	2.37:g.223158889G>T						PAX3_ENST00000409828.3_Silent_p.R195R|PAX3_ENST00000409551.3_Silent_p.R194R|PAX3_ENST00000258387.5_Silent_p.R195R|PAX3_ENST00000344493.4_Silent_p.R195R|PAX3_ENST00000392069.2_Silent_p.R195R|PAX3_ENST00000392070.2_Silent_p.R195R|PAX3_ENST00000336840.6_Silent_p.R195R	p.R195R	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	719	-		Renal(207;0.0183)	195					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.583C>A	CCDS42826.1																																																																																				0.612	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			20	176	1	0	2.37509e-13	0.592651	2.92679e-13	20	176				
ATM	472	broad.mit.edu	37	11	108160406	108160406	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:108160406T>C	ENST00000452508.2	+	30	4503	c.4314T>C	c.(4312-4314)atT>atC	p.I1438I	ATM_ENST00000278616.4_Silent_p.I1438I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1438					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGCACAGAATTCTTAAAATAT	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4312-4314)atT>atC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							53.0	55.0	55.0					11																	108160406		2201	4295	6496	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108160406T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4314T>C	11.37:g.108160406T>C		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.I1438I	p.I1438I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	29	4699	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1438					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.4314T>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	9.696	1.153133	0.21371	.	.	ENSG00000149311	ENST00000531525	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.71634	0.3363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71126	-0.4683	4	.	.	.	.	15.6333	0.76929	0.0:0.0:0.0:1.0	.	.	.	.	S	108	.	.	F	+	2	0	ATM	107665616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.844000	0.48246	2.151000	0.67156	0.528000	0.53228	TTC		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		9	102	0	0	0	0.335167	0	9	102				
MCM2	4171	broad.mit.edu	37	3	127337882	127337882	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:127337882G>A	ENST00000265056.7	+	13	2270	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	676	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CGAGATGCTGGCCCGCTTCGT	0.632																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2026-2028)Gcc>Acc		minichromosome maintenance complex component 2							29.0	30.0	29.0					3																	127337882		2202	4300	6502	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127337882G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2026G>A	3.37:g.127337882G>A	ENSP00000265056:p.Ala676Thr					MCM2_ENST00000468414.1_3'UTR	p.A676T	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2270	+			676			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2026G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.594883|5.594883	0.96602|0.96602	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.13089|.	2.62|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88055|.	0.6334|.	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;1.0;1.0|.	D|.	0.91125|.	0.4933|.	10|.	0.87932|.	D|.	0|.	-35.4862|-35.4862	19.6273|19.6273	0.95682|0.95682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	726;546;676|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	T|X	676;580;726|607	ENSP00000265056:A676T|.	ENSP00000265056:A676T|.	A|W	+|+	1|3	0|0	MCM2|MCM2	128820572|128820572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.360000|9.360000	0.97119|0.97119	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	GCC|TGG		0.632	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			7	16	0	0	0	0.248553	0	7	16				
CSDE1	7812	broad.mit.edu	37	1	115272925	115272925	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:115272925G>T	ENST00000358528.4	-	12	1736	c.1310C>A	c.(1309-1311)aCt>aAt	p.T437N	CSDE1_ENST00000530886.1_Missense_Mutation_p.T307N|CSDE1_ENST00000438362.2_Missense_Mutation_p.T483N|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406N|CSDE1_ENST00000369530.1_Missense_Mutation_p.T452N|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406N|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437N|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	437					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1447-1449)aCt>aAt		cold shock domain containing E1, RNA-binding							125.0	132.0	130.0					1																	115272925		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272925G>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1310C>A	1.37:g.115272925G>T	ENSP00000351329:p.Thr437Asn					CSDE1_ENST00000369530.1_Missense_Mutation_p.T452N|CSDE1_ENST00000358528.4_Missense_Mutation_p.T437N|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406N|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437N|CSDE1_ENST00000530886.1_Missense_Mutation_p.T307N|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406N	p.T483N	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1826	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	437			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1448C>A	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373241	0.42105	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	5.85	0.93711	.	0.246207	0.42053	D	0.000774	T	0.66616	0.2807	L	0.47716	1.5	0.43032	D	0.994608	P;P;D	0.61080	0.93;0.838;0.989	B;B;D	0.72625	0.36;0.202;0.978	T	0.57219	-0.7849	9	0.15499	T	0.54	-7.3357	20.1731	0.98165	0.0:0.0:1.0:0.0	.	452;437;483	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	406;483;437;406;307;452;437	.	ENSP00000261443:T406N	T	-	2	0	CSDE1	115074448	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.265000	0.51561	2.768000	0.95171	0.655000	0.94253	ACT		0.378	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		15	186	1	0	2.32078e-09	0.479597	2.71047e-09	15	186				
NPSR1	387129	broad.mit.edu	37	7	34724268	34724268	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:34724268C>T	ENST00000360581.1	+	2	380	c.252C>T	c.(250-252)acC>acT	p.T84T	NPSR1_ENST00000381553.3_Silent_p.T84T|NPSR1_ENST00000465305.1_Silent_p.T84T|NPSR1_ENST00000381542.1_Silent_p.T84T|NPSR1_ENST00000381539.3_Silent_p.T84T|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Silent_p.T84T|NPSR1_ENST00000531252.1_Silent_p.T84T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	84						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAAGAATGACCTTCTTTGTGA	0.418																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(250-252)acC>acT		neuropeptide S receptor 1	Halothane(DB01159)						135.0	128.0	131.0					7																	34724268		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724268C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.252C>T	7.37:g.34724268C>T						NPSR1_ENST00000381542.1_Silent_p.T84T|NPSR1_ENST00000465305.1_Silent_p.T84T|NPSR1_ENST00000359791.1_Silent_p.T84T|NPSR1_ENST00000531252.1_Silent_p.T84T|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Silent_p.T84T|NPSR1_ENST00000381553.3_Silent_p.T84T	p.T84T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			2	380	+			84					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.252C>T	CCDS5444.1																																																																																				0.418	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		38	125	0	0	0	0.812448	0	38	125				
PI15	51050	broad.mit.edu	37	8	75756223	75756223	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:75756223A>G	ENST00000260113.2	+	3	460	c.281A>G	c.(280-282)gAt>gGt	p.D94G	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.D94G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	94	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGTTTGGGATGAAAATCTT	0.393																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(280-282)gAt>gGt		peptidase inhibitor 15							100.0	102.0	101.0					8																	75756223		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75756223A>G	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.281A>G	8.37:g.75756223A>G	ENSP00000260113:p.Asp94Gly					PI15_ENST00000523773.1_Missense_Mutation_p.D94G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	p.D94G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		3	460	+	Breast(64;0.137)		94					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.281A>G	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232538	0.58777	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.17691	2.26;2.26	5.06	5.06	0.68205	CAP domain (3);	0.048766	0.85682	D	0.000000	T	0.37919	0.1021	M	0.92459	3.31	0.80722	D	1	P	0.34639	0.461	B	0.40636	0.335	T	0.47699	-0.9097	10	0.66056	D	0.02	.	15.2804	0.73778	1.0:0.0:0.0:0.0	.	94	O43692	PI15_HUMAN	G	94	ENSP00000260113:D94G;ENSP00000428567:D94G	ENSP00000260113:D94G	D	+	2	0	PI15	75918778	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.660000	0.74417	2.246000	0.74042	0.533000	0.62120	GAT		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		46	187	0	0	0	0.870114	0	46	187				
AKAP9	10142	broad.mit.edu	37	7	91709455	91709455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:91709455G>C	ENST00000359028.2	+	32	8269	c.8044G>C	c.(8044-8046)Gaa>Caa	p.E2682Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2670Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2682Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2682	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGATGTTGAAGTTCTCAA	0.323			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8044-8046)Gaa>Caa		A kinase (PRKA) anchor protein 9							12.0	12.0	12.0					7																	91709455		1856	3954	5810	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709455G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8044G>C	7.37:g.91709455G>C	ENSP00000351922:p.Glu2682Gln					AKAP9_ENST00000358100.2_Missense_Mutation_p.E2682Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2670Q	p.E2682Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8269	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2682			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8044G>C		.	.	.	.	.	.	.	.	.	.	G	3.440	-0.114198	0.06881	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03580	3.97;3.96;3.97;3.88	4.12	3.21	0.36854	.	.	.	.	.	T	0.05227	0.0139	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.18166	0.026;0.008;0.015;0.015	B;B;B;B	0.16289	0.014;0.006;0.009;0.015	T	0.25537	-1.0129	9	0.62326	D	0.03	.	8.4859	0.33071	0.0924:0.1552:0.7523:0.0	.	2674;2682;2670;2662	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	Q	2670;2682;2682;2674;516	ENSP00000348573:E2670Q;ENSP00000351922:E2682Q;ENSP00000350813:E2682Q;ENSP00000378042:E516Q	ENSP00000348573:E2670Q	E	+	1	0	AKAP9	91547391	0.920000	0.31207	0.544000	0.28141	0.642000	0.38348	4.962000	0.63687	1.012000	0.39366	0.591000	0.81541	GAA		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	32	0	0	0	0.278610	0	8	32				
MTO1	25821	broad.mit.edu	37	6	74191953	74191953	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:74191953G>T	ENST00000370300.4	+	9	1616	c.1526G>T	c.(1525-1527)cGg>cTg	p.R509L	MTO1_ENST00000415954.2_Missense_Mutation_p.R524L|MTO1_ENST00000498286.1_Missense_Mutation_p.R484L|MTO1_ENST00000370305.1_Missense_Mutation_p.R435L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	509					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCTGACAGCCGGCTCACACTG	0.522																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(1450-1452)cGg>cTg		mitochondrial tRNA translation optimization 1							101.0	80.0	87.0					6																	74191953		2203	4300	6503	SO:0001583	missense	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74191953G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1526G>T	6.37:g.74191953G>T	ENSP00000359323:p.Arg509Leu					MTO1_ENST00000370300.4_Missense_Mutation_p.R509L|MTO1_ENST00000415954.2_Missense_Mutation_p.R524L|MTO1_ENST00000370305.1_Missense_Mutation_p.R435L	p.R484L			Q9Y2Z2	MTO1_HUMAN			8	1728	+			509					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	c.1451G>T	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272083	0.80469	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.48	4.6	0.57074	.	0.106076	0.64402	D	0.000005	D	0.89301	0.6676	H	0.98866	4.355	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.78314	0.991;0.969;0.991;0.98	D	0.94080	0.7343	9	0.87932	D	0	-13.2974	16.6312	0.85033	0.0:0.1303:0.8697:0.0	.	524;387;484;509	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	L	524;484;387;435;509;39	.	ENSP00000350506:R387L	R	+	2	0	MTO1	74248674	1.000000	0.71417	0.998000	0.56505	0.597000	0.36814	9.392000	0.97252	1.432000	0.47375	0.454000	0.30748	CGG		0.522	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		18	64	1	0	1.45105e-14	0.539581	1.80948e-14	18	64				
ATRNL1	26033	broad.mit.edu	37	10	117226686	117226686	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:117226686G>T	ENST00000355044.3	+	23	3546	c.3420G>T	c.(3418-3420)tcG>tcT	p.S1140S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.S191S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1140					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGGTAGTCGAACAAAAATC	0.274																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3418-3420)tcG>tcT		attractin-like 1							110.0	106.0	107.0					10																	117226686		2200	4295	6495	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117226686G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3420G>T	10.37:g.117226686G>T						ATRNL1_ENST00000423111.2_Silent_p.S191S|ATRNL1_ENST00000303745.7_Intron	p.S1140S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3546	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1140					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3420G>T	CCDS7592.1																																																																																				0.274	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		15	84	1	0	6.31663e-08	0.479597	7.24214e-08	15	84				
NSUN5	55695	broad.mit.edu	37	7	72722501	72722501	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:72722501G>C	ENST00000252594.6	-	2	158	c.143C>G	c.(142-144)gCc>gGc	p.A48G	NSUN5_ENST00000310326.8_Missense_Mutation_p.A48G|NSUN5_ENST00000438747.2_Missense_Mutation_p.A48G|NSUN5_ENST00000428206.1_Missense_Mutation_p.A48G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	48					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCCAGCACGGCGGAGTAGCG	0.687																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(142-144)gCc>gGc		NOP2/Sun domain family, member 5							43.0	45.0	45.0					7																	72722501		2202	4297	6499	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72722501G>C	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.143C>G	7.37:g.72722501G>C	ENSP00000252594:p.Ala48Gly					NSUN5_ENST00000310326.8_Missense_Mutation_p.A48G|NSUN5_ENST00000252594.6_Missense_Mutation_p.A48G|NSUN5_ENST00000438747.2_Missense_Mutation_p.A48G	p.A48G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			2	156	-		Lung NSC(55;0.163)	48					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.143C>G	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770764	0.69992	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.14640	2.49;2.5;2.72;2.72	4.08	4.08	0.47627	.	0.199083	0.44688	D	0.000431	T	0.17916	0.0430	M	0.69823	2.125	0.38736	D	0.953784	B;P;B;B	0.49253	0.047;0.921;0.047;0.045	B;B;B;B	0.41510	0.035;0.359;0.019;0.099	T	0.20974	-1.0259	10	0.22109	T	0.4	.	15.5136	0.75806	0.0:0.0:1.0:0.0	.	48;48;48;48	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	G	48	ENSP00000393081:A48G;ENSP00000252594:A48G;ENSP00000388464:A48G;ENSP00000309126:A48G	ENSP00000252594:A48G	A	-	2	0	NSUN5	72360437	0.688000	0.27680	0.998000	0.56505	0.885000	0.51271	4.267000	0.58877	2.107000	0.64212	0.485000	0.47835	GCC		0.687	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		23	78	0	0	0	0.639603	0	23	78				
SLFN5	162394	broad.mit.edu	37	17	33586236	33586236	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:33586236T>G	ENST00000299977.4	+	2	675	c.527T>G	c.(526-528)tTt>tGt	p.F176C	SLFN5_ENST00000542451.1_Missense_Mutation_p.F176C|SLFN5_ENST00000592325.1_Missense_Mutation_p.F176C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	176					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCTGCTTTATTTGATAGAAAG	0.398																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(526-528)tTt>tGt		schlafen family member 5							132.0	127.0	129.0					17																	33586236		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586236T>G	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.527T>G	17.37:g.33586236T>G	ENSP00000299977:p.Phe176Cys					SLFN5_ENST00000592325.1_Missense_Mutation_p.F176C|SLFN5_ENST00000542451.1_Missense_Mutation_p.F176C	p.F176C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	675	+		Ovarian(249;0.17)	176					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.527T>G	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586248	0.46110	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.15834	3.71;2.39	3.45	3.45	0.39498	.	0.000000	0.32970	N	0.005423	T	0.37156	0.0993	M	0.76170	2.325	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.05632	-1.0873	10	0.54805	T	0.06	.	8.5028	0.33168	0.0:0.0:0.0:1.0	.	176;176;176	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	C	176	ENSP00000299977:F176C;ENSP00000440537:F176C	ENSP00000299977:F176C	F	+	2	0	SLFN5	30610349	0.675000	0.27558	0.013000	0.15412	0.211000	0.24417	1.937000	0.40193	1.560000	0.49568	0.460000	0.39030	TTT		0.398	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		65	168	0	0	0	0.870114	0	65	168				
PPP1R12C	54776	broad.mit.edu	37	19	55606107	55606107	+	Missense_Mutation	SNP	G	G	A	rs369559413		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:55606107G>A	ENST00000263433.3	-	12	1529	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P431L|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P505L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTCAGGCTCCGGAATCCTGGA	0.612																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1513-1515)cCg>cTg		protein phosphatase 1, regulatory subunit 12C							59.0	55.0	56.0					19																	55606107		2201	4298	6499	SO:0001583	missense	54776					cytoplasm		g.chr19:55606107G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1514C>T	19.37:g.55606107G>A	ENSP00000263433:p.Pro505Leu					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P431L|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P505L	p.P505L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	12	1529	-			505			Pro-rich.			Missense_Mutation	SNP	ENST00000263433.3	37	c.1514C>T	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	6.254	0.415037	0.11870	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.68624	-0.14;-0.21;-0.34	4.81	-3.81	0.04294	.	2.589090	0.01631	N	0.023559	T	0.56543	0.1992	L	0.46157	1.445	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.30446	-0.9978	10	0.27785	T	0.31	.	7.0117	0.24865	0.337:0.1416:0.5214:0.0	.	431;504;505	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	L	505;505;431	ENSP00000263433:P505L;ENSP00000365573:P505L;ENSP00000387833:P431L	ENSP00000263433:P505L	P	-	2	0	PPP1R12C	60297919	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.857000	0.04286	-0.670000	0.05282	-1.036000	0.02392	CCG		0.612	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		8	11	0	0	0	0.307466	0	8	11				
CFAP45	25790	broad.mit.edu	37	1	159850410	159850410	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:159850410T>C	ENST00000368099.4	-	8	1042	c.978A>G	c.(976-978)aaA>aaG	p.K326K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Silent_p.K241K	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCAGTTCTGCTTTCTGTTTCT	0.463																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(721-723)aaA>aaG		coiled-coil domain containing 19							169.0	145.0	153.0					1																	159850410		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159850410T>C																												ENST00000368099.4:c.978A>G	1.37:g.159850410T>C						CCDC19_ENST00000368099.4_Silent_p.K326K|CCDC19_ENST00000476696.1_5'UTR	p.K241K			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	1178	-	all_hematologic(112;0.0597)		326						Silent	SNP	ENST00000368099.4	37	c.723A>G	CCDS30914.1																																																																																				0.463	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			47	163	0	0	0	0.870114	0	47	163				
NKAIN3	286183	broad.mit.edu	37	8	63492237	63492237	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:63492237T>C	ENST00000523211.1	+	2	324		c.e2+2		NKAIN3_ENST00000328472.5_Splice_Site|NKAIN3_ENST00000519049.1_Splice_Site	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATAATGGTGGTAAGTCTTATT	0.323																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.e2+2		Na+/K+ transporting ATPase interacting 3							129.0	114.0	119.0					8																	63492237		1798	4072	5870	SO:0001630	splice_region_variant	286183					integral to membrane|plasma membrane		g.chr8:63492237T>C	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.192+2T>C	8.37:g.63492237T>C						NKAIN3_ENST00000328472.5_Splice_Site|NKAIN3_ENST00000519049.1_Splice_Site		NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			2	324	+	Breast(64;0.127)	Lung NSC(129;0.187)							Splice_Site	SNP	ENST00000523211.1	37		CCDS55239.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.265203	0.40095	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	.	.	.	6.01	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8108	0.57639	0.0:0.0:0.1365:0.8635	.	.	.	.	.	-1	.	.	.	+	.	.	NKAIN3	63654791	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	8.040000	0.89188	1.079000	0.41038	0.528000	0.53228	.		0.323	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	Intron	29	75	0	0	0	0.706142	0	29	75				
MC3R	4159	broad.mit.edu	37	20	54824142	54824142	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:54824142G>A	ENST00000243911.2	+	1	355	c.243G>A	c.(241-243)gcG>gcA	p.A81A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	81					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCAGCCTGGCGGTGGCCGACA	0.567																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(241-243)gcG>gcA		melanocortin 3 receptor							81.0	64.0	70.0					20																	54824142		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824142G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.243G>A	20.37:g.54824142G>A							p.A81A	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	355	+			118		V -> I (have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103).			Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.243G>A	CCDS13449.2																																																																																				0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			6	85	0	0	0	0.217242	0	6	85				
IQCC	55721	broad.mit.edu	37	1	32671827	32671827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:32671827G>A	ENST00000291358.6	+	2	136	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.E119K|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	39										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTGTACGAGAGGTCGAGGG	0.612																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(355-357)Gag>Aag		IQ motif containing C							83.0	85.0	85.0					1																	32671827		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32671827G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.115G>A	1.37:g.32671827G>A	ENSP00000291358:p.Glu39Lys					IQCC_ENST00000291358.6_Missense_Mutation_p.E39K|RP4-622L5.7_ENST00000421616.1_RNA	p.E119K	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			2	402	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	39					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.355G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318288	0.81469	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.11063	2.81;2.81	5.13	4.16	0.48862	.	0.000000	0.64402	D	0.000001	T	0.32436	0.0829	M	0.72118	2.19	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02885	-1.1098	10	0.72032	D	0.01	-18.4618	16.1864	0.81955	0.0:0.1336:0.8664:0.0	.	119;39	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	K	119;39	ENSP00000442291:E119K;ENSP00000291358:E39K	ENSP00000291358:E39K	E	+	1	0	IQCC	32444414	1.000000	0.71417	0.978000	0.43139	0.215000	0.24574	5.779000	0.68948	2.843000	0.97960	0.655000	0.94253	GAG		0.612	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		56	140	0	0	0	0.870114	0	56	140				
KTI12	112970	broad.mit.edu	37	1	52499375	52499375	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:52499375T>C	ENST00000371614.1	-	1	113	c.59A>G	c.(58-60)gAg>gGg	p.E20G	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	20							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACGCGCAACTCTTCAGCACG	0.682																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(58-60)gAg>gGg		KTI12 homolog, chromatin associated (S. cerevisiae)							16.0	17.0	17.0					1																	52499375		2197	4292	6489	SO:0001583	missense	112970						ATP binding	g.chr1:52499375T>C		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.59A>G	1.37:g.52499375T>C	ENSP00000360676:p.Glu20Gly					TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	p.E20G	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	113	-			20						Missense_Mutation	SNP	ENST00000371614.1	37	c.59A>G	CCDS562.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208995	0.39003	.	.	ENSG00000198841	ENST00000371614	T	0.34667	1.35	5.06	3.93	0.45458	.	0.067610	0.56097	U	0.000034	T	0.37046	0.0989	M	0.71206	2.165	0.32387	N	0.553825	B	0.29805	0.257	B	0.32090	0.14	T	0.47005	-0.9150	10	0.34782	T	0.22	.	9.9307	0.41521	0.0:0.0:0.1708:0.8292	.	20	Q96EK9	KTI12_HUMAN	G	20	ENSP00000360676:E20G	ENSP00000360676:E20G	E	-	2	0	KTI12	52271963	0.514000	0.26202	0.018000	0.16275	0.087000	0.18053	2.226000	0.42963	0.935000	0.37341	0.533000	0.62120	GAG		0.682	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		5	23	0	0	0	0.278610	0	5	23				
CDK14	5218	broad.mit.edu	37	7	90419941	90419941	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:90419941G>T	ENST00000380050.3	+	5	649	c.518G>T	c.(517-519)gGg>gTg	p.G173V	CDK14_ENST00000436577.2_Missense_Mutation_p.G44V|CDK14_ENST00000406263.1_Missense_Mutation_p.G127V|CDK14_ENST00000265741.3_Missense_Mutation_p.G155V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAAGAAGAAGGGACACCTTTC	0.403																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(379-381)gGg>gTg		cyclin-dependent kinase 14							163.0	161.0	162.0					7																	90419941		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419941G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.518G>T	7.37:g.90419941G>T	ENSP00000369390:p.Gly173Val					CDK14_ENST00000436577.2_Missense_Mutation_p.G44V|CDK14_ENST00000380050.3_Missense_Mutation_p.G173V|CDK14_ENST00000265741.3_Missense_Mutation_p.G155V	p.G127V			O94921	CDK14_HUMAN			4	822	+			173					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.380G>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.442652	0.83993	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T;T;T;T;T	0.64991	0.01;0.01;0.01;0.01;-0.13;-0.13;-0.13;-0.13	5.75	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.938;1.0;0.976	D	0.84317	0.0514	10	0.87932	D	0	-3.0785	15.9209	0.79570	0.0:0.0:0.8637:0.1363	.	44;155;173	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	V	127;127;127;127;173;155;127;44	ENSP00000393616:G127V;ENSP00000410770:G127V;ENSP00000394570:G127V;ENSP00000406848:G127V;ENSP00000369390:G173V;ENSP00000265741:G155V;ENSP00000385034:G127V;ENSP00000398936:G44V	ENSP00000265741:G155V	G	+	2	0	CDK14	90257877	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	8.278000	0.89899	1.389000	0.46526	0.650000	0.86243	GGG		0.403	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		21	87	1	0	1.9806e-07	0.624587	2.24611e-07	21	87				
THSD7B	80731	broad.mit.edu	37	2	138169326	138169326	+	Missense_Mutation	SNP	G	G	A	rs544470059	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:138169326G>A	ENST00000409968.1	+	14	3021	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R917Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R948Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	948	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGCCTCACCGAGGACTGCGG	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.002					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2842-2844)cGa>cAa		thrombospondin, type I, domain containing 7B							117.0	115.0	116.0					2																	138169326		1953	4133	6086	SO:0001583	missense	80731							g.chr2:138169326G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2843G>A	2.37:g.138169326G>A	ENSP00000387145:p.Arg948Gln					THSD7B_ENST00000413152.2_Missense_Mutation_p.R917Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R948Q	p.R948Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3021	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2843G>A		.	.	.	.	.	.	.	.	.	.	G	7.676	0.687930	0.14973	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22134	2.49;2.36;1.97	5.62	5.62	0.85841	.	0.549745	0.17953	N	0.156443	T	0.09468	0.0233	N	0.11724	0.165	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.04013	0.001;0.001	T	0.31998	-0.9923	10	0.12430	T	0.62	.	4.5765	0.12236	0.0749:0.1305:0.5367:0.258	.	948;917	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	948;948;917	ENSP00000387145:R948Q;ENSP00000272643:R948Q;ENSP00000413841:R917Q	ENSP00000272643:R948Q	R	+	2	0	THSD7B	137885796	0.157000	0.22836	0.935000	0.37517	0.297000	0.27493	1.016000	0.29976	2.646000	0.89796	0.557000	0.71058	CGA		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	150	0	0	0	0.278610	0	6	150				
TTC17	55761	broad.mit.edu	37	11	43513568	43513568	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:43513568A>T	ENST00000039989.4	+	23	3164		c.e23-1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17						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						TTCTTCTCCCAGGATGTGCCC	0.468																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e23-1		tetratricopeptide repeat domain 17							276.0	262.0	266.0					11																	43513568		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43513568A>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.3151-1A>T	11.37:g.43513568A>T								NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			23	3164	+								G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37		CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192061	0.78902	.	.	ENSG00000052841	ENST00000039989;ENST00000418561	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3764	0.66881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC17	43470144	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	7.190000	0.77755	2.126000	0.65437	0.533000	0.62120	.		0.468	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Intron	113	267	0	0	0	0.870114	0	113	267				
XPR1	9213	broad.mit.edu	37	1	180780558	180780558	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:180780558A>T	ENST00000367590.4	+	7	895	c.697A>T	c.(697-699)Act>Tct	p.T233S	XPR1_ENST00000367589.3_Missense_Mutation_p.T233S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACCAGCATGGACTACTTTTAG	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(697-699)Act>Tct		xenotropic and polytropic retrovirus receptor 1							149.0	133.0	138.0					1																	180780558		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180780558A>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.697A>T	1.37:g.180780558A>T	ENSP00000356562:p.Thr233Ser					XPR1_ENST00000367589.3_Missense_Mutation_p.T233S	p.T233S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			7	895	+			233					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.697A>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.984634	0.93044	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.43294	0.95	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.72894	2.215	0.80722	D	1	D;P	0.65815	0.995;0.935	D;P	0.65874	0.939;0.599	T	0.64347	-0.6429	10	0.51188	T	0.08	-13.8766	15.3889	0.74726	1.0:0.0:0.0:0.0	.	233;233	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	233	ENSP00000356562:T233S	ENSP00000356561:T233S	T	+	1	0	XPR1	179047181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.621000	0.90949	2.159000	0.67721	0.533000	0.62120	ACT		0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		49	135	0	0	0	0.870114	0	49	135				
PCDHB5	26167	broad.mit.edu	37	5	140515572	140515572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:140515572G>A	ENST00000231134.5	+	1	773	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATAATCGCGGAGATGGCAG	0.517																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(556-558)Gga>Aga									79.0	80.0	80.0					5																	140515572		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515572G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.556G>A	5.37:g.140515572G>A	ENSP00000231134:p.Gly186Arg						p.G186R	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	773	+			186			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.556G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	5.621	0.299216	0.10622	.	.	ENSG00000113209	ENST00000231134	T	0.50548	0.74	5.18	1.86	0.25419	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33644	0.0870	L	0.39147	1.195	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22487	-1.0215	9	0.35671	T	0.21	.	3.6095	0.08055	0.3296:0.0:0.4874:0.183	.	186	Q9Y5E4	PCDB5_HUMAN	R	186	ENSP00000231134:G186R	ENSP00000231134:G186R	G	+	1	0	PCDHB5	140495756	0.000000	0.05858	0.612000	0.29024	0.402000	0.30811	-0.147000	0.10234	0.671000	0.31185	0.555000	0.69702	GGA		0.517	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		23	66	0	0	0	0.639603	0	23	66				
NLRP8	126205	broad.mit.edu	37	19	56466303	56466303	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56466303T>A	ENST00000291971.3	+	3	950	c.879T>A	c.(877-879)tcT>tcA	p.S293S	NLRP8_ENST00000590542.1_Silent_p.S293S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	293	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCACATCTACCCTCATTG	0.507																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(877-879)tcT>tcA		NLR family, pyrin domain containing 8							157.0	152.0	154.0					19																	56466303		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466303T>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.879T>A	19.37:g.56466303T>A						NLRP8_ENST00000590542.1_Silent_p.S293S	p.S293S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	950	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	293			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.879T>A	CCDS12937.1																																																																																				0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		52	229	0	0	0	0.870114	0	52	229				
RYR2	6262	broad.mit.edu	37	1	237993869	237993869	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:237993869G>A	ENST00000366574.2	+	103	15012	c.14695G>A	c.(14695-14697)Gac>Aac	p.D4899N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4905N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4883N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4899					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)			TGATTACTTCGACACAGTGCC	0.418																																						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.(14695-14697)Gac>Aac		ryanodine receptor 2 (cardiac)							218.0	204.0	209.0					1																	237993869		1963	4167	6130	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.chr1:237993869G>A	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.14695G>A	1.37:g.237993869G>A	ENSP00000355533:p.Asp4899Asn					RYR2_ENST00000360064.6_Missense_Mutation_p.D4905N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4883N|RYR2_ENST00000462585.1_3'UTR	p.D4899N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		103	15012	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4899					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14695G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798171	0.96952	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98060	-4.69;-4.66;-4.68	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	D	0.98651	0.9548	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.99837	1.1058	10	0.87932	D	0	-19.7625	19.143	0.93452	0.0:0.0:1.0:0.0	.	4899	Q92736	RYR2_HUMAN	N	4899;4905;4883	ENSP00000355533:D4899N;ENSP00000353174:D4905N;ENSP00000443798:D4883N	ENSP00000353174:D4905N	D	+	1	0	RYR2	236060492	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.809000	0.99208	2.509000	0.84616	0.561000	0.74099	GAC		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		56	199	0	0	0	0.870114	0	56	199				
DNAAF1	123872	broad.mit.edu	37	16	84188370	84188370	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:84188370A>T	ENST00000378553.5	+	4	665	c.541A>T	c.(541-543)Agc>Tgc	p.S181C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.S181C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	181					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCTTAACCTCAGCAACAATTA	0.473																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(541-543)Agc>Tgc		dynein, axonemal, assembly factor 1							90.0	84.0	86.0					16																	84188370		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188370A>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.541A>T	16.37:g.84188370A>T	ENSP00000367815:p.Ser181Cys					DNAAF1_ENST00000334315.5_Missense_Mutation_p.S181C	p.S181C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			4	665	+			181					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.541A>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630541	0.67015	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.29917	1.55;1.55	4.99	4.99	0.66335	.	0.176864	0.51477	D	0.000094	T	0.42063	0.1186	M	0.75615	2.305	0.45066	D	0.998087	P	0.45126	0.851	P	0.48815	0.591	T	0.39272	-0.9622	10	0.52906	T	0.07	-18.5146	10.0062	0.41959	0.8492:0.0:0.0:0.1508	.	181	Q8NEP3	DAAF1_HUMAN	C	181	ENSP00000334593:S181C;ENSP00000367815:S181C	ENSP00000334593:S181C	S	+	1	0	DNAAF1	82745871	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.265000	0.65519	1.870000	0.54199	0.528000	0.53228	AGC		0.473	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		35	102	0	0	0	0.788014	0	35	102				
LPHN2	23266	broad.mit.edu	37	1	82436043	82436043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:82436043G>A	ENST00000370728.1	+	18	3412	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T	LPHN2_ENST00000319517.6_Missense_Mutation_p.A910T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A923T|LPHN2_ENST00000370721.1_Missense_Mutation_p.A848T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A910T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A910T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370725.1_Missense_Mutation_p.A923T|LPHN2_ENST00000335786.5_Missense_Mutation_p.A923T|LPHN2_ENST00000370723.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370717.2_Missense_Mutation_p.A923T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.A923T			O95490	LPHN2_HUMAN	latrophilin 2	923					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTCTTTTTGGCAGCTTTTGC	0.358																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2767-2769)Gca>Aca		latrophilin 2							154.0	153.0	153.0					1																	82436043		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436043G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2767G>A	1.37:g.82436043G>A	ENSP00000359763:p.Ala923Thr					LPHN2_ENST00000335786.5_Missense_Mutation_p.A923T|LPHN2_ENST00000370721.1_Missense_Mutation_p.A848T|LPHN2_ENST00000370723.1_Missense_Mutation_p.A910T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A910T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370717.2_Missense_Mutation_p.A923T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370730.1_Missense_Mutation_p.A923T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A910T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A923T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A910T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A910T|LPHN2_ENST00000319517.6_Missense_Mutation_p.A910T	p.A923T			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3412	+			923					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2767G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034016|4.034016	0.75504|0.75504	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.39592|.	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62011|.	0.2393|.	L|L	0.57130|0.57130	1.785|1.785	0.58432|0.58432	D|D	0.999999|0.999999	B;B;P|.	0.38250|.	0.203;0.158;0.624|.	B;B;P|.	0.47299|.	0.255;0.069;0.543|.	T|.	0.60316|.	-0.7287|.	10|.	0.87932|.	D|.	0|.	.|.	14.676|14.676	0.68981|0.68981	0.0:0.0:0.8547:0.1453|0.0:0.0:0.8547:0.1453	.|.	910;910;910|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	T|X	848;923;923;923;923;910;910;910;910;910;923;910;923;923|790	ENSP00000359756:A848T;ENSP00000359763:A923T;ENSP00000359765:A923T;ENSP00000359762:A923T;ENSP00000359760:A923T;ENSP00000359758:A910T;ENSP00000353006:A910T;ENSP00000359750:A910T;ENSP00000359748:A910T;ENSP00000322270:A910T;ENSP00000359752:A923T;ENSP00000378344:A910T;ENSP00000271029:A923T;ENSP00000337306:A923T|.	ENSP00000271029:A923T|.	A|W	+|+	1|3	0|0	LPHN2|LPHN2	82208631|82208631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.864000|9.864000	0.99589|0.99589	2.691000|2.691000	0.91804|0.91804	0.591000|0.591000	0.81541|0.81541	GCA|TGG		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		75	254	0	0	0	0.870114	0	75	254				
BAGE2	85319	broad.mit.edu	37	21	11098727	11098727	+	RNA	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:11098727C>A	ENST00000470054.1	-	0	198							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcttactgctccggccgccat	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							103.0	153.0	136.0					21																	11098727		2128	4255	6383			85319							g.chr21:11098727C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098727C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	198	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		20	62	1	0	3.5997e-14	0.624587	4.47105e-14	20	62				
CPQ	10404	broad.mit.edu	37	8	97797214	97797214	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:97797214A>T	ENST00000220763.5	+	2	299	c.89A>T	c.(88-90)aAg>aTg	p.K30M		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	30					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GGCATCTCTAAGAGGACTTTT	0.393																																						ENST00000220763.5																			0											c.(88-90)aAg>aTg		carboxypeptidase Q							91.0	94.0	93.0					8																	97797214		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97797214A>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.89A>T	8.37:g.97797214A>T	ENSP00000220763:p.Lys30Met						p.K30M	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			2	299	+			30					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.89A>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671757	0.47781	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.45668	0.89;0.89	5.28	-3.46	0.04767	.	1.001990	0.08046	N	0.995931	T	0.13970	0.0338	N	0.03608	-0.345	0.09310	N	1	B;B	0.27117	0.168;0.168	B;B	0.18263	0.021;0.021	T	0.15292	-1.0442	10	0.46703	T	0.11	-7.326	0.0543	0.00013	0.3179:0.1928:0.2202:0.2691	.	30;30	B5MDX4;Q9Y646	.;PGCP_HUMAN	M	30	ENSP00000220763:K30M;ENSP00000429146:K30M	ENSP00000220763:K30M	K	+	2	0	AC010859.1	97866390	0.000000	0.05858	0.048000	0.18961	0.738000	0.42128	-0.111000	0.10807	-0.208000	0.10171	0.460000	0.39030	AAG		0.393	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		78	191	0	0	0	0.870114	0	78	191				
XIRP2	129446	broad.mit.edu	37	2	168103683	168103683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:168103683G>T	ENST00000409195.1	+	9	5870	c.5781G>T	c.(5779-5781)agG>agT	p.R1927S	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1927S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1705S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1752					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCACTAAGGTCTTTGAAAG	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5779-5781)agG>agT		xin actin-binding repeat containing 2							52.0	49.0	50.0					2																	168103683		1831	4094	5925	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103683G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5781G>T	2.37:g.168103683G>T	ENSP00000386840:p.Arg1927Ser					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1705S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1927S|XIRP2_ENST00000409728.1_Intron	p.R1927S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5870	+			1752					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5781G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861520	0.32884	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03689	3.85;3.85;3.84	5.76	0.147	0.14838	.	0.147716	0.64402	D	0.000008	T	0.06050	0.0157	M	0.62723	1.935	0.30298	N	0.789779	D;P;P	0.56035	0.974;0.867;0.867	P;P;P	0.48030	0.476;0.564;0.564	T	0.15009	-1.0452	10	0.41790	T	0.15	-4.089	7.535	0.27706	0.287:0.0:0.6007:0.1123	.	1752;1752;1705	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	1927;1927;1705	ENSP00000386840:R1927S;ENSP00000295237:R1927S;ENSP00000387255:R1705S	ENSP00000295237:R1927S	R	+	3	2	XIRP2	167811929	0.347000	0.24853	0.984000	0.44739	0.643000	0.38383	0.039000	0.13884	0.075000	0.16796	-0.188000	0.12872	AGG		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	45	1	0	2.35188e-11	0.539581	2.8313e-11	19	45				
METTL16	79066	broad.mit.edu	37	17	2318695	2318695	+	IGR	SNP	G	G	A	rs4790335	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:2318695G>A	ENST00000263092.6	-	0	5711				METTL16_ENST00000571669.2_5'Flank|AC006435.1_ENST00000609667.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AGCAACACACGACATGCATGG	0.463													G|||	3471	0.693091	0.3752	0.7666	5008	,	,		13844	0.9643		0.6571	False		,,,				2504	0.8282					ENST00000571332.1																			0															G		1780,2250		425,930,660	70.0	73.0	72.0			-5.0	0.0	17	dbSNP_111	72	5616,2740		1878,1860,440	no	near-gene-3				2303,2790,1100	AA,AG,GG		32.7908,44.1687,40.2874			2318695	7396,4990	2015	4178	6193	SO:0001628	intergenic_variant	79066							g.chr17:2318695G>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50			17.37:g.2318695G>A								NR_028335.1						0	684	-								D3DTI8|Q86TE5|Q96T16|Q9BVG7	RNA	SNP	ENST00000263092.6	37		CCDS42232.1																																																																																				0.463	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		5	106	0	0	0	0.184627	0	5	106				
ST18	9705	broad.mit.edu	37	8	53085133	53085133	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:53085133C>A	ENST00000276480.7	-	10	971	c.288G>T	c.(286-288)atG>atT	p.M96I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	96					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)				TAGGTTTTATCATGATTTCCT	0.318																																						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.(286-288)atG>atT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							22.0	22.0	22.0					8																	53085133		2097	4257	6354	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53085133C>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.288G>T	8.37:g.53085133C>A	ENSP00000276480:p.Met96Ile						p.M96I	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	971	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	96					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.288G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335933	0.05278	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.39997	1.05;1.05	5.44	2.27	0.28462	.	1.042660	0.07416	N	0.893257	T	0.31071	0.0785	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.18276	T	0.48	-1.2144	7.2307	0.26040	0.5625:0.347:0.0:0.0905	.	96	O60284	ST18_HUMAN	I	96	ENSP00000276480:M96I;ENSP00000428521:M96I	ENSP00000276480:M96I	M	-	3	0	ST18	53247686	0.041000	0.20044	0.041000	0.18516	0.036000	0.12997	2.195000	0.42677	0.627000	0.30340	0.655000	0.94253	ATG		0.318	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			29	67	1	0	1.88708e-17	0.729181	2.40105e-17	29	67				
ERAL1	26284	broad.mit.edu	37	17	27185506	27185506	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:27185506T>C	ENST00000254928.5	+	6	808		c.e6+2		MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1						ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGAACAAGGTGAGCACTACC	0.547																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.e6+2		Era-like 12S mitochondrial rRNA chaperone 1							138.0	111.0	120.0					17																	27185506		2203	4300	6503	SO:0001630	splice_region_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27185506T>C	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.711+2T>C	17.37:g.27185506T>C								NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		6	808	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)							B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Splice_Site	SNP	ENST00000254928.5	37		CCDS11244.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974172	0.74246	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.348	0.66680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAL1	24209632	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	6.778000	0.75043	2.266000	0.75297	0.528000	0.53228	.		0.547	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2		Intron	62	155	0	0	0	0.870114	0	62	155				
THAP4	51078	broad.mit.edu	37	2	242576355	242576355	+	Splice_Site	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:242576355C>A	ENST00000407315.1	-	1	509		c.e1+1		ATG4B_ENST00000402096.1_5'Flank|ATG4B_ENST00000396411.3_5'Flank|ATG4B_ENST00000474739.2_5'Flank|ATG4B_ENST00000404914.3_5'Flank|ATG4B_ENST00000405546.3_5'Flank	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4								DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ggcccgcgTACCTGTGGAAGG	0.786																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.e1+1		THAP domain containing 4							7.0	7.0	7.0					2																	242576355		2066	4095	6161	SO:0001630	splice_region_variant	51078						DNA binding|metal ion binding	g.chr2:242576355C>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.77+1G>T	2.37:g.242576355C>A								NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	1	509	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)						Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Splice_Site	SNP	ENST00000407315.1	37		CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614746	0.46631	.	.	ENSG00000176946	ENST00000407315	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2827	0.43550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THAP4	242225028	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	2.509000	0.45459	1.200000	0.43188	0.186000	0.17326	.		0.786	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	Intron	3	6	1	0	6.4e-05	0.115264	6.90759e-05	3	6				
CCDC116	164592	broad.mit.edu	37	22	21989393	21989393	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:21989393G>A	ENST00000292779.3	+	4	1202	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	CCDC116_ENST00000607942.1_Silent_p.P347P	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	347										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAGATCTGCCGCCTCTGGGCT	0.642																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1039-1041)ccG>ccA		coiled-coil domain containing 116							34.0	35.0	35.0					22																	21989393		2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21989393G>A	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1041G>A	22.37:g.21989393G>A							p.P347P	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	1202	+	Colorectal(54;0.105)		347					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.1041G>A	CCDS13791.1																																																																																				0.642	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		14	46	0	0	0	0.457914	0	14	46				
DMBX1	127343	broad.mit.edu	37	1	46976315	46976315	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:46976315G>A	ENST00000360032.3	+	2	336	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	DMBX1_ENST00000371956.4_Missense_Mutation_p.A113T	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTGCCTGAGGCCCGGGTGCA	0.602																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(337-339)Gcc>Acc		diencephalon/mesencephalon homeobox 1							63.0	56.0	58.0					1																	46976315		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976315G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.322G>A	1.37:g.46976315G>A	ENSP00000353132:p.Ala108Thr					DMBX1_ENST00000360032.3_Missense_Mutation_p.A108T	p.A113T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			2	352	+	Acute lymphoblastic leukemia(166;0.155)		113			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.337G>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334534	0.95758	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.96232	-3.95;-3.95	5.13	5.13	0.70059	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	L	0.47078	1.49	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.99	D	0.98169	1.0451	10	0.87932	D	0	.	17.5803	0.87965	0.0:0.0:1.0:0.0	.	113;108	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	T	113;108	ENSP00000361024:A113T;ENSP00000353132:A108T	ENSP00000353132:A108T	A	+	1	0	DMBX1	46748902	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.403000	0.81681	0.491000	0.48974	GCC		0.602	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			38	49	0	0	0	0.853193	0	38	49				
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A3279T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.A3279T(1)	endometrium(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9835-9837)Gca>Aca		filaggrin		T	THR/ALA	1,4405	825.8+/-416.5	0,1,2202	361.0	352.0	355.0		9835	-3.8	0.0	1	dbSNP_133	355	1,8599		0,1,4299	no	missense	FLG	NM_002016.1	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3279/4062	152277527	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277527C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9835G>A	1.37:g.152277527C>T	ENSP00000357789:p.Ala3279Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A3279T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9870	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3279			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9835G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	3.686	-0.064576	0.07273	2.27E-4	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00864	5.6	2.42	-3.84	0.04256	.	.	.	.	.	T	0.00178	0.0005	N	0.22421	0.69	0.09310	N	1	B	0.33919	0.432	B	0.21917	0.037	T	0.41910	-0.9482	9	0.02654	T	1	.	8.0253	0.30434	0.0:0.3227:0.0:0.6773	.	3279	P20930	FILA_HUMAN	T	3279;217	ENSP00000357789:A3279T	ENSP00000357786:A217T	A	-	1	0	FLG	150544151	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.203000	0.00559	-0.916000	0.03818	-2.856000	0.00102	GCA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		51	573	0	0	0	0.870114	0	51	573				
CSMD3	114788	broad.mit.edu	37	8	113395804	113395804	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:113395804C>A	ENST00000297405.5	-	37	6267	c.6023G>T	c.(6022-6024)aGc>aTc	p.S2008I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1968I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1938I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1904I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2008	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTGAATAGCTTCCAAGTCT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6022-6024)aGc>aTc		CUB and Sushi multiple domains 3							77.0	75.0	76.0					8																	113395804		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395804C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6023G>T	8.37:g.113395804C>A	ENSP00000297405:p.Ser2008Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S1968I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1904I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1938I	p.S2008I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			37	6267	-			2008			CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6023G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343643	0.82022	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	4.42	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.60845	1.875	0.58432	D	0.999996	P;B;D	0.89917	0.94;0.447;1.0	P;B;D	0.91635	0.688;0.439;0.999	T	0.33828	-0.9853	10	0.51188	T	0.08	.	17.5729	0.87940	0.0:1.0:0.0:0.0	.	1904;2008;1968	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1968;2008;1278;1904;1938	ENSP00000345799:S1968I;ENSP00000297405:S2008I;ENSP00000341558:S1278I;ENSP00000412263:S1904I;ENSP00000343124:S1938I	ENSP00000297405:S2008I	S	-	2	0	CSMD3	113464980	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.574000	0.82434	2.440000	0.82611	0.467000	0.42956	AGC		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	129	1	0	1.00905e-13	0.575678	1.24835e-13	19	129				
ZNF695	57116	broad.mit.edu	37	1	247163376	247163376	+	Splice_Site	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:247163376C>T	ENST00000339986.7	-	2	151	c.4G>A	c.(4-6)Gga>Aga	p.G2R	ZNF695_ENST00000487338.2_Splice_Site_p.G2R|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	2					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCAATAGTCCCTGAAAAAGA	0.453																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.e2-1		zinc finger protein 695							48.0	51.0	50.0					1																	247163376		2136	4267	6403	SO:0001630	splice_region_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163376C>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.4-1G>A	1.37:g.247163376C>T						ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Splice_Site_p.G2_splice	p.G2_splice	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	151	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Splice_Site	SNP	ENST00000339986.7	37	c.3_splice	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209911	0.22289	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.00892	5.57;5.57	0.588	0.588	0.17445	Krueppel-associated box (1);	.	.	.	.	T	0.04092	0.0114	M	0.77820	2.39	0.20873	N	0.999836	D;P;D	0.76494	0.999;0.482;0.999	D;B;D	0.74023	0.979;0.078;0.982	T	0.27872	-1.0061	8	0.56958	D	0.05	.	.	.	.	.	2;2;2	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	R	2	ENSP00000429736:G2R;ENSP00000341236:G2R	ENSP00000428213:G2R	G	-	1	0	ZNF695	245229999	0.624000	0.27102	0.524000	0.27887	0.206000	0.24218	1.849000	0.39318	0.536000	0.28733	0.195000	0.17529	GGA		0.453	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394	Missense_Mutation	22	52	0	0	0	0.654019	0	22	52				
PLEKHA4	57664	broad.mit.edu	37	19	49340739	49340739	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:49340739T>G	ENST00000263265.6	-	20	2702	c.2147A>C	c.(2146-2148)cAg>cCg	p.Q716P	HSD17B14_ENST00000263278.4_5'Flank|HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	716						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGGTCTCCTGGCGCGTGGG	0.667																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(2146-2148)cAg>cCg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							30.0	38.0	35.0					19																	49340739		2200	4300	6500	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49340739T>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2147A>C	19.37:g.49340739T>G	ENSP00000263265:p.Gln716Pro					PLEKHA4_ENST00000355496.5_3'UTR	p.Q716P	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	20	2702	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	716					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.2147A>C	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	t	11.13	1.547781	0.27652	.	.	ENSG00000105559	ENST00000263265	T	0.08634	3.07	4.1	-1.62	0.08372	.	0.789283	0.10875	N	0.624493	T	0.05044	0.0135	N	0.24115	0.695	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.59425	D	0.04	.	4.2733	0.10797	0.0:0.3374:0.3863:0.2763	.	716	Q9H4M7	PKHA4_HUMAN	P	716	ENSP00000263265:Q716P	ENSP00000263265:Q716P	Q	-	2	0	PLEKHA4	54032551	0.000000	0.05858	0.005000	0.12908	0.301000	0.27625	-0.408000	0.07169	-0.314000	0.08716	0.249000	0.18162	CAG		0.667	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			27	80	0	0	0	0.706142	0	27	80				
ERG	2078	broad.mit.edu	37	21	39755448	39755448	+	Silent	SNP	G	G	A	rs200220847		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:39755448G>A	ENST00000417133.2	-	12	1523	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	ERG_ENST00000288319.7_Silent_p.P439P|ERG_ENST00000442448.1_Silent_p.P422P|ERG_ENST00000398905.1_Silent_p.P415P|ERG_ENST00000398911.1_Silent_p.P422P|ERG_ENST00000453032.2_Silent_p.P347P|ERG_ENST00000398897.1_Silent_p.P323P|ERG_ENST00000398910.1_Silent_p.P423P|ERG_ENST00000398919.2_Silent_p.P446P|ERG_ENST00000398907.1_Silent_p.P416P	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AAGATGTCACGGGGAGGGCTG	0.552			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		15017	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1264-1266)ccC>ccT		v-ets avian erythroblastosis virus E26 oncogene homolog							39.0	41.0	40.0					21																	39755448		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755448G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1338C>T	21.37:g.39755448G>A						ERG_ENST00000398911.1_Silent_p.P422P|ERG_ENST00000288319.7_Silent_p.P439P|ERG_ENST00000398907.1_Silent_p.P416P|ERG_ENST00000398919.2_Silent_p.P446P|ERG_ENST00000417133.2_Silent_p.P446P|ERG_ENST00000398897.1_Silent_p.P323P|ERG_ENST00000453032.2_Silent_p.P347P|ERG_ENST00000398910.1_Silent_p.P423P|ERG_ENST00000398905.1_Silent_p.P415P	p.P422P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1537	-		Prostate(19;3.6e-06)	446					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.1266C>T	CCDS46648.1																																																																																				0.552	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		18	40	0	0	0	0.557998	0	18	40				
GPR141	353345	broad.mit.edu	37	7	37780085	37780085	+	Silent	SNP	C	C	T	rs368456046		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37780085C>T	ENST00000447769.1	+	4	379	c.90C>T	c.(88-90)ggC>ggT	p.G30G	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.G30G|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G30G(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTTATTGGCGGGCTGGTGG	0.507																																						ENST00000447769.1																			2	Substitution - coding silent(2)	p.G30G(2)	breast(2)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(88-90)ggC>ggT		G protein-coupled receptor 141		C		0,4406		0,0,2203	112.0	120.0	117.0		90	-6.5	0.4	7		117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR141	NM_181791.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		30/306	37780085	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780085C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.90C>T	7.37:g.37780085C>T						GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.G30G	p.G30G			Q7Z602	GP141_HUMAN			4	379	+			30					A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	c.90C>T	CCDS5451.1																																																																																				0.507	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		54	142	0	0	0	0.870114	0	54	142				
ST3GAL3	6487	broad.mit.edu	37	1	44201936	44201936	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201936G>T	ENST00000361392.4	+	2	180	c.3G>T	c.(1-3)atG>atT	p.M1I	ST3GAL3_ENST00000372372.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531993.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000528371.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000332628.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372374.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000335430.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372377.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361746.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000262915.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531816.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000545417.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000330208.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000353126.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531451.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372365.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372366.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372367.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372369.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361400.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372375.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372368.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000533933.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361812.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000351035.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372362.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000347631.2_Start_Codon_SNP_p.M1I	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	1					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGTGAAGATGGGACTCTTGG	0.378																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(1-3)atG>atT		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							270.0	254.0	259.0					1																	44201936		2203	4300	6503	SO:0001582	initiator_codon_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44201936G>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.3G>T	1.37:g.44201936G>T	ENSP00000355341:p.Met1Ile					ST3GAL3_ENST00000372368.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000351035.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531993.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000347631.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361392.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000335430.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531451.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000330208.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372369.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000528371.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372372.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372377.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000332628.6_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372374.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372362.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372375.2_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372365.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000531816.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361400.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361746.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372366.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000361812.4_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000545417.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000372367.1_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000353126.3_Start_Codon_SNP_p.M1I|ST3GAL3_ENST00000533933.1_Start_Codon_SNP_p.M1I	p.M1I	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			2	180	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	1					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Translation_Start_Site	SNP	ENST00000361392.4	37	c.3G>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808435	0.70797	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78924	0.58;0.9;0.23;0.15;0.12;0.52;-0.18;-1.19;-1.2;0.21;-1.22;0.56;-1.19;-1.2;-1.15;0.23;0.23;-0.29;-0.22;-0.2;0.15;0.12;0.3;0.25;-0.18;0.52;-1.17	5.94	5.94	0.96194	.	0.051702	0.85682	D	0.000000	D	0.89026	0.6598	.	.	.	0.80722	D	1	P;P;P;P;P;P;P;P;P;D;P;P;P;P;P;D;P;P	0.53745	0.656;0.656;0.656;0.656;0.908;0.656;0.656;0.656;0.831;0.962;0.656;0.656;0.656;0.656;0.525;0.962;0.656;0.525	P;P;P;P;D;P;P;P;P;D;P;P;P;P;B;D;P;B	0.66716	0.679;0.584;0.584;0.584;0.922;0.584;0.584;0.584;0.758;0.946;0.584;0.679;0.584;0.679;0.38;0.946;0.679;0.38	D	0.89265	0.3600	9	0.87932	D	0	.	19.977	0.97313	0.0:0.0:1.0:0.0	.	1;1;1;1;1;1;1;1;1;1;1;1;1;1;1;1;1;1	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	I	1	ENSP00000355341:M1I;ENSP00000354748:M1I;ENSP00000262915:M1I;ENSP00000361450:M1I;ENSP00000316999:M1I;ENSP00000361449:M1I;ENSP00000330463:M1I;ENSP00000439634:M1I;ENSP00000333494:M1I;ENSP00000335633:M1I;ENSP00000361452:M1I;ENSP00000317192:M1I;ENSP00000355201:M1I;ENSP00000361437:M1I;ENSP00000435603:M1I;ENSP00000361444:M1I;ENSP00000354657:M1I;ENSP00000361442:M1I;ENSP00000361441:M1I;ENSP00000361440:M1I;ENSP00000361443:M1I;ENSP00000361447:M1I;ENSP00000434876:M1I;ENSP00000432682:M1I;ENSP00000432965:M1I;ENSP00000329755:M1I;ENSP00000434378:M1I	ENSP00000262915:M1I	M	+	3	0	ST3GAL3	43974523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.891000	0.75639	2.814000	0.96858	0.563000	0.77884	ATG		0.378	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	Missense_Mutation	71	298	1	0	2.36143e-25	0.870114	3.0797e-25	71	298				
GPATCH4	54865	broad.mit.edu	37	1	156565514	156565514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:156565514G>C	ENST00000438976.2	-	8	649	c.619C>G	c.(619-621)Ccc>Gcc	p.P207A	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Missense_Mutation_p.P202A			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	202							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTTTTGGGGGGCTTGCTC	0.547																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(604-606)Ccc>Gcc		G patch domain containing 4							69.0	71.0	70.0					1																	156565514		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565514G>C	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.619C>G	1.37:g.156565514G>C	ENSP00000396441:p.Pro207Ala					GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Missense_Mutation_p.P207A	p.P202A	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	736	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		202					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.604C>G	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160570	0.21454	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.46819	0.86;0.86;0.86	5.91	2.85	0.33270	.	1.129070	0.06463	N	0.729840	T	0.10508	0.0257	L	0.29908	0.895	0.09310	N	1	B;B	0.30914	0.3;0.131	B;B	0.22386	0.039;0.039	T	0.23726	-1.0180	10	0.12766	T	0.61	-20.1687	2.0328	0.03533	0.1748:0.1554:0.5097:0.1601	.	207;202	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	A	202;202;207;173	ENSP00000357215:P202A;ENSP00000396441:P207A;ENSP00000412620:P173A	ENSP00000357212:P202A	P	-	1	0	GPATCH4	154832138	0.006000	0.16342	0.011000	0.14972	0.187000	0.23431	0.897000	0.28390	0.819000	0.34492	0.655000	0.94253	CCC		0.547	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		30	148	0	0	0	0.760397	0	30	148				
NAV1	89796	broad.mit.edu	37	1	201758873	201758873	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:201758873G>A	ENST00000367296.4	+	11	3592	c.3172G>A	c.(3172-3174)Ggc>Agc	p.G1058S	NAV1_ENST00000367297.4_Missense_Mutation_p.G1058S|NAV1_ENST00000367300.3_Missense_Mutation_p.G1001S|NAV1_ENST00000367302.1_Missense_Mutation_p.G1014S|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.G1058S|NAV1_ENST00000367295.1_Missense_Mutation_p.G667S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1058					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCAGTTCACGGCTCAGTGCT	0.517																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3172-3174)Ggc>Agc		neuron navigator 1							230.0	194.0	206.0					1																	201758873		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201758873G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3172G>A	1.37:g.201758873G>A	ENSP00000356265:p.Gly1058Ser					NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Missense_Mutation_p.G1014S|NAV1_ENST00000367300.3_Missense_Mutation_p.G1001S|NAV1_ENST00000367297.4_Missense_Mutation_p.G1058S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.G667S|NAV1_ENST00000295624.6_Missense_Mutation_p.G1058S	p.G1058S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			11	3592	+			1058					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3172G>A	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.537864|5.537864	0.96460|0.96460	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.52057|.	2.87;1.67;1.72;0.68;2.88;1.67|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78407|0.78407	0.4278|0.4278	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;0.986;0.997;1.0|.	T|T	0.78018|0.78018	-0.2368|-0.2368	10|5	0.72032|.	D|.	0.01|.	-39.4527|-39.4527	19.3085|19.3085	0.94175|0.94175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1058;667;1058;566;1058|.	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.;.;NAV1_HUMAN;.;.|.	S|Q	1014;1058;1058;1058;1001;566;667|615	ENSP00000356271:G1014S;ENSP00000356265:G1058S;ENSP00000295624:G1058S;ENSP00000356266:G1058S;ENSP00000356269:G1001S;ENSP00000356264:G667S|.	ENSP00000295624:G1058S|.	G|R	+|+	1|2	0|0	NAV1|NAV1	200025496|200025496	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.974000|0.974000	0.67602|0.67602	9.564000|9.564000	0.98151|0.98151	2.659000|2.659000	0.90383|0.90383	0.563000|0.563000	0.77884|0.77884	GGC|CGG		0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		12	148	0	0	0	0.435327	0	12	148				
GOLGA6C	653641	broad.mit.edu	37	15	75557691	75557691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:75557691C>T	ENST00000300576.5	+	9	685	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	229						Golgi apparatus (GO:0005794)				ovary(1)	1						CCAGCTAGAGCGGGACGAATA	0.552																																						ENST00000300576.5																			0				ovary(1)	1						c.(685-687)Cgg>Tgg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75557691C>T		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.685C>T	15.37:g.75557691C>T	ENSP00000300576:p.Arg229Trp						p.R229W	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			9	685	+			229						Missense_Mutation	SNP	ENST00000300576.5	37	c.685C>T	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	C	5.537	0.283971	0.10458	.	.	ENSG00000167195	ENST00000300576	T	0.38887	1.11	0.167	-0.334	0.12666	.	.	.	.	.	T	0.38957	0.1060	M	0.88181	2.935	0.09310	N	1	P	0.41159	0.74	B	0.27715	0.082	T	0.26292	-1.0107	9	0.87932	D	0	.	5.0409	0.14458	0.3423:0.6577:0.0:0.0	.	229	A6NDK9	GOG6C_HUMAN	W	229	ENSP00000300576:R229W	ENSP00000300576:R229W	R	+	1	2	GOLGA6C	73344744	0.999000	0.42202	0.000000	0.03702	0.000000	0.00434	0.573000	0.23699	-1.100000	0.03030	-1.142000	0.01873	CGG		0.552	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		67	399	0	0	0	0.870114	0	67	399				
DTNA	1837	broad.mit.edu	37	18	32345948	32345948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:32345948C>T	ENST00000399113.3	+	2	91	c.91C>T	c.(91-93)Cga>Tga	p.R31*	DTNA_ENST00000269190.7_Nonsense_Mutation_p.R31*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.R31*|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269191.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.R31*|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000598142.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000554864.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000315456.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.R31*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGATCGCATCCGACTCTCCAC	0.408																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(91-93)Cga>Tga		dystrobrevin, alpha							108.0	88.0	95.0					18																	32345948		2203	4300	6503	SO:0001587	stop_gained	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32345948C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.91C>T	18.37:g.32345948C>T	ENSP00000382064:p.Arg31*					DTNA_ENST00000399113.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000554864.3_Nonsense_Mutation_p.R31*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000315456.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.R31*|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399121.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.R31*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.R31*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Nonsense_Mutation_p.R31*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.R31*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.R31*	p.R31*	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			4	442	+			31			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.91C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699779	0.96802	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0224	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000269190:R31X	R	+	1	2	DTNA	30599946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.976000	0.63785	2.470000	0.83445	0.557000	0.71058	CGA		0.408	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		8	77	0	0	0	0.278610	0	8	77				
MUC16	94025	broad.mit.edu	37	19	9062982	9062982	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:9062982C>A	ENST00000397910.4	-	3	24667	c.24464G>T	c.(24463-24465)aGg>aTg	p.R8155M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8157	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						GACTTCTGTCCTGGAGACTTC	0.547																																						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.(24463-24465)aGg>aTg		mucin 16, cell surface associated							119.0	116.0	117.0					19																	9062982		2042	4208	6250	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062982C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24464G>T	19.37:g.9062982C>A	ENSP00000381008:p.Arg8155Met						p.R8155M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24667	-			8157			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24464G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.493	0.459110	0.12342	.	.	ENSG00000181143	ENST00000397910	T	0.02974	4.09	3.24	-6.49	0.01890	.	.	.	.	.	T	0.01454	0.0047	N	0.12182	0.205	.	.	.	B	0.24823	0.112	B	0.17979	0.02	T	0.47560	-0.9108	8	0.87932	D	0	.	2.4281	0.04464	0.3755:0.1955:0.3314:0.0977	.	8155	B5ME49	.	M	8155	ENSP00000381008:R8155M	ENSP00000381008:R8155M	R	-	2	0	MUC16	8923982	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.542000	0.00218	-1.333000	0.02247	0.508000	0.49915	AGG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	140	1	0	2.46105e-21	0.750413	3.1963e-21	30	140				
ITM2A	9452	broad.mit.edu	37	X	78616844	78616844	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:78616844G>T	ENST00000373298.2	-	5	828	c.685C>A	c.(685-687)Cgc>Agc	p.R229S	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.R185S	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	229						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGTCTCTGCGACGAAGGCGG	0.438																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(553-555)Cgc>Agc		integral membrane protein 2A							102.0	89.0	94.0					X																	78616844		2203	4299	6502	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616844G>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.685C>A	X.37:g.78616844G>T	ENSP00000362395:p.Arg229Ser					ITM2A_ENST00000373298.2_Missense_Mutation_p.R229S|ITM2A_ENST00000469541.1_5'UTR	p.R185S	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			4	889	-			229			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.553C>A	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917042	0.52546	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.18174	2.23;2.23	4.11	1.04	0.20106	.	0.132842	0.50627	N	0.000105	T	0.36220	0.0959	M	0.67569	2.06	0.48696	D	0.999697	D;D	0.89917	1.0;0.998	D;P	0.79784	0.993;0.9	T	0.02519	-1.1147	10	0.52906	T	0.07	-54.8668	12.6104	0.56547	0.0:0.0:0.6758:0.3241	.	185;229	B4E062;O43736	.;ITM2A_HUMAN	S	229;185	ENSP00000362395:R229S;ENSP00000415533:R185S	ENSP00000362395:R229S	R	-	1	0	ITM2A	78503500	1.000000	0.71417	0.949000	0.38748	0.974000	0.67602	2.701000	0.47094	-0.147000	0.11254	0.513000	0.50165	CGC		0.438	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		31	40	1	0	3.90053e-15	0.760397	4.88346e-15	31	40				
RYBP	23429	broad.mit.edu	37	3	72495696	72495696	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:72495696C>A	ENST00000477973.2	-	1	373	c.374G>T	c.(373-375)tGa>tTa	p.*125L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTAAAGGCTTCAGCACTGTTT	0.468																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(373-375)tGa>tTa		RING1 and YY1 binding protein							81.0	81.0	81.0					3																	72495696		1892	4130	6022	SO:0001578	stop_lost	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72495696C>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.374G>T	3.37:g.72495696C>A	Exception_encountered						p.*125L	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	1	373	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Nonstop_Mutation	SNP	ENST00000477973.2	37	c.374G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.468983	0.98302	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6989	18.8219	0.92100	0.0:1.0:0.0:0.0	.	.	.	.	L	125	.	.	X	-	2	2	RYBP	72578386	1.000000	0.71417	0.973000	0.42090	0.947000	0.59692	7.711000	0.84669	2.516000	0.84829	0.555000	0.69702	TGA		0.468	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		4	24	1	0	0.000602214	0.184627	0.000634657	4	24				
TUBB6	84617	broad.mit.edu	37	18	12325643	12325643	+	Silent	SNP	C	C	A	rs200435931		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:12325643C>A	ENST00000317702.5	+	4	1089	c.855C>A	c.(853-855)acC>acA	p.T285T	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	285					'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)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCTGACCGTGCCCGAGC	0.687																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(853-855)acC>acA		tubulin, beta 6 class V							41.0	38.0	39.0					18																	12325643		2200	4297	6497	SO:0001819	synonymous_variant	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325643C>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.855C>A	18.37:g.12325643C>A						TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR	p.T285T			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1089	+			285					B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	c.855C>A	CCDS11858.1																																																																																				0.687	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		13	38	1	0	0.000132079	0.575678	0.000141095	13	38				
ANKRD40	91369	broad.mit.edu	37	17	48777946	48777946	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:48777946A>G	ENST00000285243.6	-	2	535	c.266T>C	c.(265-267)aTc>aCc	p.I89T		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	89										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATCTTCCTGATTTCTCTCCT	0.418																																						ENST00000285243.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(265-267)aTc>aCc		ankyrin repeat domain 40							203.0	178.0	186.0					17																	48777946		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777946A>G	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.266T>C	17.37:g.48777946A>G	ENSP00000285243:p.Ile89Thr						p.I89T	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		2	535	-			89					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.266T>C	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955044	0.73902	.	.	ENSG00000154945	ENST00000285243	T	0.27104	1.69	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	L	0.52126	1.63	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.35919	-0.9769	10	0.56958	D	0.05	-4.5358	15.0184	0.71605	1.0:0.0:0.0:0.0	.	89	Q6AI12	ANR40_HUMAN	T	89	ENSP00000285243:I89T	ENSP00000285243:I89T	I	-	2	0	ANKRD40	46132945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.218000	0.71995	0.533000	0.62120	ATC		0.418	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		46	130	0	0	0	0.870114	0	46	130				
PKD1	5310	broad.mit.edu	37	16	2164578	2164578	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:2164578C>A	ENST00000262304.4	-	11	2654	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y	PKD1_ENST00000423118.1_Missense_Mutation_p.D816Y|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	816	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGACCACGTCAAAGCTGCAG	0.682																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2446-2448)Gac>Tac		polycystic kidney disease 1 (autosomal dominant)							14.0	8.0	10.0					16																	2164578		1759	3441	5200	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164578C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2446G>T	16.37:g.2164578C>A	ENSP00000262304:p.Asp816Tyr					PKD1_ENST00000423118.1_Missense_Mutation_p.D816Y	p.D816Y	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2654	-			816			PKD 2.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2446G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	4.530	0.098404	0.08681	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.35236	1.32;1.32	5.39	-10.8	0.00216	Polycystin cation channel (1);	1.734320	0.02465	N	0.086968	T	0.23572	0.0570	L	0.44542	1.39	0.09310	N	1	P;P	0.38767	0.646;0.575	B;B	0.34873	0.191;0.102	T	0.32903	-0.9889	10	0.56958	D	0.05	.	5.9377	0.19175	0.119:0.4984:0.2088:0.1739	.	816;816	P98161-3;P98161	.;PKD1_HUMAN	Y	816	ENSP00000262304:D816Y;ENSP00000399501:D816Y	ENSP00000262304:D816Y	D	-	1	0	PKD1	2104579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.021000	0.01440	-2.459000	0.00537	-0.975000	0.02590	GAC		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			6	8	1	0	0.00198382	0.248553	0.00207671	6	8				
NUDT21	11051	broad.mit.edu	37	16	56481815	56481815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:56481815C>G	ENST00000300291.5	-	2	375	c.203G>C	c.(202-204)aGg>aCg	p.R68T		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	68	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						AAATTCTTCCCTCATGCGCTG	0.473																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(202-204)aGg>aCg		nudix (nucleoside diphosphate linked moiety X)-type motif 21							105.0	94.0	98.0					16																	56481815		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56481815C>G	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.203G>C	16.37:g.56481815C>G	ENSP00000300291:p.Arg68Thr						p.R68T	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			2	375	-			68			Necessary for RNA-binding.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.203G>C	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514682	0.85389	.	.	ENSG00000167005	ENST00000300291;ENST00000535563	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.85945	2.785	0.80722	D	1	P	0.36753	0.568	B	0.41088	0.347	T	0.78568	-0.2154	9	0.62326	D	0.03	-15.4382	20.2963	0.98556	0.0:1.0:0.0:0.0	.	68	O43809	CPSF5_HUMAN	T	68	.	ENSP00000300291:R68T	R	-	2	0	NUDT21	55039316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	AGG		0.473	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		7	122	0	0	0	0.248553	0	7	122				
RP1	6101	broad.mit.edu	37	8	55540810	55540810	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:55540810A>G	ENST00000220676.1	+	4	4516	c.4368A>G	c.(4366-4368)acA>acG	p.T1456T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1456					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAGCATGACATCAAGTGAAA	0.373																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4366-4368)acA>acG		retinitis pigmentosa 1 (autosomal dominant)							53.0	56.0	55.0					8																	55540810		2202	4300	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540810A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4368A>G	8.37:g.55540810A>G							p.T1456T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4516	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1456						Silent	SNP	ENST00000220676.1	37	c.4368A>G	CCDS6160.1																																																																																				0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		35	114	0	0	0	0.779181	0	35	114				
PCDH11X	27328	broad.mit.edu	37	X	91134064	91134064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:91134064C>A	ENST00000373094.1	+	2	3670	c.2825C>A	c.(2824-2826)gCc>gAc	p.A942D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A942D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A942D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	942					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACAAATCTGCCTCTCCACAG	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2824-2826)gCc>gAc		protocadherin 11 X-linked							161.0	147.0	151.0					X																	91134064		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134064C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2825C>A	X.37:g.91134064C>A	ENSP00000362186:p.Ala942Asp					PCDH11X_ENST00000395337.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A942D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A942D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A942D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A942D	p.A942D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3670	+			942					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2825C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375413	0.61735	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.16	5.16	0.70880	Protocadherin (1);	0.054842	0.64402	D	0.000001	T	0.57344	0.2047	M	0.68952	2.095	0.47214	D	0.999355	D;D;D;D;D;D;P;P	0.67145	0.974;0.986;0.986;0.995;0.995;0.996;0.954;0.954	P;P;P;P;P;D;P;P	0.64877	0.786;0.885;0.885;0.885;0.885;0.93;0.691;0.691	T	0.60845	-0.7182	10	0.59425	D	0.04	.	16.6257	0.84969	0.0:1.0:0.0:0.0	.	942;942;942;942;942;942;942;942	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	D	942	ENSP00000378746:A942D;ENSP00000362186:A942D;ENSP00000362189:A942D;ENSP00000355040:A942D;ENSP00000362180:A942D;ENSP00000423762:A942D;ENSP00000355105:A942D;ENSP00000384758:A942D;ENSP00000298274:A942D	ENSP00000298274:A942D	A	+	2	0	PCDH11X	91020720	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.209000	0.77916	2.127000	0.65507	0.600000	0.82982	GCC		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		71	87	1	0	1.63007e-36	0.870114	2.18976e-36	71	87				
ULK4	54986	broad.mit.edu	37	3	41439704	41439704	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:41439704T>C	ENST00000301831.4	-	35	4006	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1182					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAACCAGTATAGACAGGCAC	0.393																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(3544-3546)Ata>Gta		unc-51 like kinase 4							88.0	84.0	85.0					3																	41439704		1839	4083	5922	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41439704T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3544A>G	3.37:g.41439704T>C	ENSP00000301831:p.Ile1182Val						p.I1182V	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	35	4006	-			1182					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3544A>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693786	0.30052	.	.	ENSG00000168038	ENST00000301831	T	0.64803	-0.12	5.7	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	1.284610	0.06892	U	0.804400	T	0.48429	0.1499	L	0.29908	0.895	0.51767	D	0.999933	B	0.06786	0.001	B	0.06405	0.002	T	0.50541	-0.8816	10	0.52906	T	0.07	.	4.0148	0.09639	0.1942:0.1822:0.0:0.6237	.	1182	Q96C45	ULK4_HUMAN	V	1182	ENSP00000301831:I1182V	ENSP00000301831:I1182V	I	-	1	0	ULK4	41414708	0.980000	0.34600	0.917000	0.36280	0.892000	0.51952	0.677000	0.25262	1.003000	0.39130	0.379000	0.24179	ATA		0.393	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		28	105	0	0	0	0.693898	0	28	105				
COL6A5	256076	broad.mit.edu	37	3	130095187	130095187	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:130095187A>T	ENST00000432398.2	+	3	669	c.175A>T	c.(175-177)Agt>Tgt	p.S59C	COL6A5_ENST00000265379.6_Missense_Mutation_p.S59C	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	59	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATGATCAACAGTCTCCCCAT	0.502																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(175-177)Agt>Tgt		collagen, type VI, alpha 5							115.0	95.0	101.0					3																	130095187		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095187A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.175A>T	3.37:g.130095187A>T	ENSP00000390895:p.Ser59Cys					COL6A5_ENST00000432398.2_Missense_Mutation_p.S59C	p.S59C			A8TX70	CO6A5_HUMAN			3	669	+			59			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.175A>T		.	.	.	.	.	.	.	.	.	.	A	7.952	0.745131	0.15710	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79352	-1.26;-1.26	5.14	1.51	0.23008	.	.	.	.	.	D	0.84973	0.5591	M	0.85197	2.74	0.09310	N	1	D	0.67145	0.996	D	0.63877	0.919	T	0.72232	-0.4353	9	0.59425	D	0.04	.	4.6963	0.12806	0.5939:0.155:0.2511:0.0	.	59	A8TX70-2	.	C	59	ENSP00000390895:S59C;ENSP00000265379:S59C	ENSP00000265379:S59C	S	+	1	0	COL6A5	131577877	0.000000	0.05858	0.263000	0.24496	0.171000	0.22731	0.044000	0.13992	0.384000	0.24942	0.455000	0.32223	AGT		0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		31	59	0	0	0	0.729181	0	31	59				
PXDNL	137902	broad.mit.edu	37	8	52321119	52321119	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:52321119A>C	ENST00000356297.4	-	17	3165	c.3065T>G	c.(3064-3066)cTg>cGg	p.L1022R	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1022R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1022					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGGTCCCCCAGGACCTTAGG	0.562																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3064-3066)cTg>cGg		peroxidasin homolog (Drosophila)-like							24.0	30.0	28.0					8																	52321119		2069	4219	6288	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321119A>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3065T>G	8.37:g.52321119A>C	ENSP00000348645:p.Leu1022Arg					PXDNL_ENST00000543296.1_Missense_Mutation_p.L1022R	p.L1022R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3165	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1022					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3065T>G	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.34|14.34	2.506078|2.506078	0.44558|0.44558	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.77489|.	-1.1;-1.1|.	3.96|3.96	3.96|3.96	0.45880|0.45880	.|.	0.000000|.	0.42053|.	D|.	0.000772|.	D|D	0.86732|0.86732	0.6003|0.6003	H|H	0.97758|0.97758	4.07|4.07	0.45272|0.45272	D|D	0.998277|0.998277	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	D|D	0.89568|0.89568	0.3811|0.3811	10|5	0.87932|.	D|.	0|.	.|.	10.7696|10.7696	0.46314|0.46314	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1022|.	A1KZ92|.	PXDNL_HUMAN|.	R|G	1022|141	ENSP00000348645:L1022R;ENSP00000444865:L1022R|.	ENSP00000348645:L1022R|.	L|W	-|-	2|1	0|0	PXDNL|PXDNL	52483672|52483672	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.152000|0.152000	0.21847|0.21847	6.378000|6.378000	0.73150|0.73150	1.427000|1.427000	0.47276|0.47276	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.562	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	17	0	0	0	0.217242	0	6	17				
ETNPPL	64850	broad.mit.edu	37	4	109681435	109681435	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:109681435C>T	ENST00000296486.3	-	2	238	c.84G>A	c.(82-84)tcG>tcA	p.S28S	ETNPPL_ENST00000411864.2_Silent_p.S28S|ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000512646.1_Intron	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	28						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TGATGGGATCCGATGCAAAGA	0.428																																						ENST00000296486.3																			0											c.(82-84)tcG>tcA		ethanolamine-phosphate phospho-lyase							97.0	96.0	96.0					4																	109681435		2203	4300	6503	SO:0001819	synonymous_variant	64850							g.chr4:109681435C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.84G>A	4.37:g.109681435C>T						ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000411864.2_Silent_p.S28S|ETNPPL_ENST00000510706.1_5'UTR	p.S28S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					2	238	-								B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	c.84G>A	CCDS3682.1																																																																																				0.428	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		55	130	0	0	0	0.870114	0	55	130				
ST3GAL3	6487	broad.mit.edu	37	1	44201937	44201937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201937G>T	ENST00000361392.4	+	2	181	c.4G>T	c.(4-6)Gga>Tga	p.G2*	ST3GAL3_ENST00000372372.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531993.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000528371.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000332628.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372374.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000335430.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372377.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361746.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000262915.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531816.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000545417.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000330208.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000353126.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531451.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372365.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372366.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372367.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372369.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361400.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372375.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372368.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000533933.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361812.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000351035.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372362.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000347631.2_Nonsense_Mutation_p.G2*	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	2					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGTGAAGATGGGACTCTTGGT	0.378																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(4-6)Gga>Tga		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							274.0	257.0	263.0					1																	44201937		2203	4300	6503	SO:0001587	stop_gained	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44201937G>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.4G>T	1.37:g.44201937G>T	ENSP00000355341:p.Gly2*					ST3GAL3_ENST00000372368.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000351035.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531993.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000347631.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361392.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000335430.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531451.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000330208.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372369.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000528371.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372372.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372377.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000332628.6_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372374.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372362.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372375.2_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372365.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000531816.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361400.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361746.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372366.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000361812.4_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000545417.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000372367.1_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000353126.3_Nonsense_Mutation_p.G2*|ST3GAL3_ENST00000533933.1_Nonsense_Mutation_p.G2*	p.G2*	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			2	181	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	2					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Nonsense_Mutation	SNP	ENST00000361392.4	37	c.4G>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	38	6.839906	0.97877	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	.	.	.	5.94	5.94	0.96194	.	0.138647	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.977	0.97313	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000262915:G2X	G	+	1	0	ST3GAL3	43974524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.226000	0.65299	2.814000	0.96858	0.563000	0.77884	GGA		0.378	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		75	299	1	0	2.141e-25	0.870114	2.81568e-25	75	299				
HINFP	25988	broad.mit.edu	37	11	119003216	119003216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119003216C>G	ENST00000350777.2	+	6	750	c.687C>G	c.(685-687)ttC>ttG	p.F229L	HINFP_ENST00000527410.1_Missense_Mutation_p.F229L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	229					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGCACTTCCAGTGTTCTC	0.592																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(685-687)ttC>ttG		histone H4 transcription factor							73.0	73.0	73.0					11																	119003216		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003216C>G	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.687C>G	11.37:g.119003216C>G	ENSP00000318085:p.Phe229Leu					HINFP_ENST00000527410.1_Missense_Mutation_p.F229L	p.F229L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			6	750	+			229					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.687C>G	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935719	0.52972	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.79749	-1.3;-1.3	5.63	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	M	0.70275	2.135	0.52099	D	0.999948	D	0.76494	0.999	D	0.79108	0.992	D	0.87493	0.2428	10	0.49607	T	0.09	-22.7809	11.7097	0.51618	0.0:0.8534:0.0:0.1466	.	229	Q9BQA5	HINFP_HUMAN	L	229	ENSP00000318085:F229L;ENSP00000436815:F229L	ENSP00000318085:F229L	F	+	3	2	HINFP	118508426	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.374000	0.20501	1.398000	0.46701	0.655000	0.94253	TTC		0.592	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		35	73	0	0	0	0.796494	0	35	73				
ADCK2	90956	broad.mit.edu	37	7	140380909	140380909	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:140380909G>C	ENST00000072869.4	+	4	1455	c.1277G>C	c.(1276-1278)cGg>cCg	p.R426P	ADCK2_ENST00000476491.1_Missense_Mutation_p.R426P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	426	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AAGATTGCACGGCTGGGGATC	0.562																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1276-1278)cGg>cCg		aarF domain containing kinase 2							121.0	102.0	108.0					7																	140380909		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140380909G>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1277G>C	7.37:g.140380909G>C	ENSP00000072869:p.Arg426Pro					ADCK2_ENST00000476491.1_Missense_Mutation_p.R426P	p.R426P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			4	1455	+	Melanoma(164;0.00956)		426			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1277G>C	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287185	0.40494	.	.	ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512	T;T;T	0.30182	1.54;1.54;1.54	4.18	-1.06	0.10002	.	0.354886	0.24262	N	0.040073	T	0.26448	0.0646	M	0.64404	1.975	0.21105	N	0.999788	P;B	0.37663	0.604;0.443	B;B	0.35971	0.215;0.212	T	0.17930	-1.0353	10	0.62326	D	0.03	-51.7627	9.1367	0.36879	0.6049:0.0:0.3951:0.0	.	426;426	C9JE15;Q7Z695	.;ADCK2_HUMAN	P	426;426;66	ENSP00000072869:R426P;ENSP00000420512:R426P;ENSP00000420288:R66P	ENSP00000072869:R426P	R	+	2	0	ADCK2	140027378	0.266000	0.24112	0.100000	0.21137	0.619000	0.37552	0.595000	0.24029	-0.095000	0.12351	0.561000	0.74099	CGG		0.562	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		18	49	0	0	0	0.539581	0	18	49				
FLG	2312	broad.mit.edu	37	1	152282662	152282662	+	Missense_Mutation	SNP	C	C	A	rs372914204		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152282662C>A	ENST00000368799.1	-	3	4735	c.4700G>T	c.(4699-4701)cGg>cTg	p.R1567L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1567Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCCGGCCCGAGTGGAAGG	0.582									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1567Q(1)	breast(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4699-4701)cGg>cTg		filaggrin							190.0	200.0	197.0					1																	152282662		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282662C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4700G>T	1.37:g.152282662C>A	ENSP00000357789:p.Arg1567Leu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1567L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1567			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4700G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.419	0.077438	0.08485	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	1.7	-3.4	0.04853	.	.	.	.	.	T	0.00845	0.0028	L	0.51422	1.61	0.09310	N	1	P	0.51057	0.941	B	0.37601	0.254	T	0.31943	-0.9925	9	0.28530	T	0.3	.	3.9793	0.09487	0.1706:0.2957:0.0:0.5337	.	1567	P20930	FILA_HUMAN	L	1567	ENSP00000357789:R1567L	ENSP00000357789:R1567L	R	-	2	0	FLG	150549286	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.194000	0.00563	-2.068000	0.00884	-2.395000	0.00226	CGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		79	321	1	0	1.49228e-48	0.870114	2.02201e-48	79	321				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	44	0	0	0	0.115264	0	3	44				
MRC2	9902	broad.mit.edu	37	17	60759630	60759630	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:60759630G>T	ENST00000303375.5	+	20	3240	c.2838G>T	c.(2836-2838)ttG>ttT	p.L946F	MRC2_ENST00000446119.2_5'UTR|RNU6-446P_ENST00000362827.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	946	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGACAGCCTTGCCCTACATCT	0.657																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2836-2838)ttG>ttT		mannose receptor, C type 2							33.0	27.0	29.0					17																	60759630		2201	4296	6497	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60759630G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2838G>T	17.37:g.60759630G>T	ENSP00000307513:p.Leu946Phe					MRC2_ENST00000446119.2_5'UTR	p.L946F	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			20	3240	+			946			C-type lectin 5.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2838G>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300423	0.40694	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	5.84	5.84	0.93424	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000002	T	0.39279	0.1072	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01371	-1.1372	10	0.30078	T	0.28	-16.8329	15.601	0.76626	0.0:0.1369:0.8631:0.0	.	946	Q9UBG0	MRC2_HUMAN	F	946	ENSP00000307513:L946F	ENSP00000307513:L946F	L	+	3	2	MRC2	58113362	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.365000	0.44196	2.767000	0.95098	0.561000	0.74099	TTG		0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			14	12	1	0	1.05317e-09	0.457914	1.24393e-09	14	12				
CTBP2	1488	broad.mit.edu	37	10	126715459	126715459	+	Intron	SNP	G	G	T	rs111660964		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:126715459G>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Silent_p.L290L|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGAACTCAGGGAGCACGGTCC	0.652																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(868-870)ctC>ctA		C-terminal binding protein 2							53.0	53.0	53.0					10																	126715459		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715459G>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12106C>A	10.37:g.126715459G>T						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	p.L290L	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1000	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.870C>A	CCDS7643.1																																																																																				0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		20	77	1	0	2.4624e-09	0.575678	2.86517e-09	20	77				
EPHA3	2042	broad.mit.edu	37	3	89521735	89521735	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:89521735A>G	ENST00000336596.2	+	16	3037	c.2812A>G	c.(2812-2814)Agt>Ggt	p.S938G	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	938	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGGAGTACAGTTCTTGTGA	0.408										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2812-2814)Agt>Ggt		EPH receptor A3							102.0	94.0	97.0					3																	89521735		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521735A>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2812A>G	3.37:g.89521735A>G	ENSP00000337451:p.Ser938Gly	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Intron	p.S938G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	3037	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	938			SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2812A>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606622	0.87157	.	.	ENSG00000044524	ENST00000336596	D	0.85861	-2.04	5.61	5.61	0.85477	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	L	0.58428	1.81	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.90040	0.4141	9	.	.	.	.	15.8104	0.78557	1.0:0.0:0.0:0.0	.	938	P29320	EPHA3_HUMAN	G	938	ENSP00000337451:S938G	.	S	+	1	0	EPHA3	89604425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.826000	0.92034	2.125000	0.65367	0.533000	0.62120	AGT		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		28	124	0	0	0	0.693898	0	28	124				
SMARCAD1	56916	broad.mit.edu	37	4	95197554	95197554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:95197554G>C	ENST00000354268.4	+	15	1946	c.1873G>C	c.(1873-1875)Gca>Cca	p.A625P	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.A625P|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.A195P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	625	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACTTAATTACGCAATTTTTGA	0.383																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1873-1875)Gca>Cca		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							101.0	94.0	96.0					4																	95197554		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95197554G>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1873G>C	4.37:g.95197554G>C	ENSP00000346217:p.Ala625Pro					SMARCAD1_ENST00000509418.1_Missense_Mutation_p.A195P|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.A625P	p.A625P			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	15	1946	+			625			Helicase ATP-binding.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1873G>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044095	0.93685	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.42	5.42	0.78866	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.44902	D	0.000414	D	0.96466	0.8847	M	0.76574	2.34	0.80722	D	1	D;D	0.57571	0.98;0.975	D;D	0.68483	0.958;0.93	D	0.96225	0.9163	10	0.52906	T	0.07	-15.7097	19.2493	0.93917	0.0:0.0:1.0:0.0	.	625;625	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	P	625;625;625;195	ENSP00000351947:A625P;ENSP00000415576:A625P;ENSP00000346217:A625P;ENSP00000423286:A195P	ENSP00000346217:A625P	A	+	1	0	SMARCAD1	95416577	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.864000	0.99589	2.542000	0.85734	0.650000	0.86243	GCA		0.383	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		21	79	0	0	0	0.592651	0	21	79				
MAGI1	9223	broad.mit.edu	37	3	65350391	65350391	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:65350391G>A	ENST00000497477.2	-	19	3098	c.3099C>T	c.(3097-3099)acC>acT	p.T1033T	MAGI1_ENST00000330909.8_Silent_p.T1128T|MAGI1_ENST00000402939.2_Silent_p.T1100T|MAGI1_ENST00000483466.1_Silent_p.T1129T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1104	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTTTGGTTTGGTGGTATTCC	0.393																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3382-3384)acC>acT		membrane associated guanylate kinase, WW and PDZ domain containing 1							161.0	163.0	162.0					3																	65350391		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65350391G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3099C>T	3.37:g.65350391G>A						MAGI1_ENST00000483466.1_Silent_p.T1129T|MAGI1_ENST00000497477.2_Silent_p.T1033T|MAGI1_ENST00000402939.2_Silent_p.T1100T	p.T1128T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	21	3383	-		Lung NSC(201;0.0016)	1129			PDZ 6.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.3384C>T		.	.	.	.	.	.	.	.	.	.	G	8.909	0.958129	0.18507	.	.	ENSG00000151276	ENST00000460329	.	.	.	6.02	4.18	0.49190	.	.	.	.	.	T	0.60274	0.2256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58200	-0.7678	4	.	.	.	-7.5265	9.8801	0.41227	0.0663:0.0:0.5621:0.3717	.	.	.	.	L	1009	.	.	P	-	2	0	MAGI1	65325431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.766000	0.26560	1.510000	0.48803	0.655000	0.94253	CCA		0.393	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		29	97	0	0	0	0.706142	0	29	97				
FLG	2312	broad.mit.edu	37	1	152277524	152277524	+	Missense_Mutation	SNP	C	C	G	rs143421504		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277524C>G	ENST00000368799.1	-	3	9873	c.9838G>C	c.(9838-9840)Gag>Cag	p.E3280Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3280	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCGTGACGA	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9838-9840)Gag>Cag		filaggrin		C	GLN/GLU	0,4406		0,0,2203	368.0	360.0	363.0		9838	-4.8	0.0	1	dbSNP_134	363	7,8593	4.3+/-15.6	0,7,4293	no	missense	FLG	NM_002016.1	29	0,7,6496	GG,GC,CC		0.0814,0.0,0.0538	possibly-damaging	3280/4062	152277524	7,12999	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277524C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9838G>C	1.37:g.152277524C>G	ENSP00000357789:p.Glu3280Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E3280Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9873	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3280			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9838G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.349	1.065121	0.20067	0.0	8.14E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00882	5.58	2.42	-4.83	0.03161	.	.	.	.	.	T	0.00608	0.0020	L	0.28740	0.885	0.09310	N	1	P	0.44309	0.832	P	0.60609	0.877	T	0.34650	-0.9820	9	0.12103	T	0.63	0.5392	11.8341	0.52312	0.0:0.652:0.348:0.0	.	3280	P20930	FILA_HUMAN	Q	3280;218	ENSP00000357789:E3280Q	ENSP00000357786:E218Q	E	-	1	0	FLG	150544148	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.069000	0.01381	-0.711000	0.04995	0.298000	0.19748	GAG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		64	581	0	0	0	0.870114	0	64	581				
APAF1	317	broad.mit.edu	37	12	99056498	99056498	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:99056498A>G	ENST00000551964.1	+	7	1605	c.869A>G	c.(868-870)aAa>aGa	p.K290R	APAF1_ENST00000552268.1_Missense_Mutation_p.K290R|APAF1_ENST00000339433.3_Missense_Mutation_p.K290R|APAF1_ENST00000549007.1_Missense_Mutation_p.K290R|APAF1_ENST00000547045.1_Missense_Mutation_p.K290R|APAF1_ENST00000550527.1_Missense_Mutation_p.K279R|APAF1_ENST00000359972.2_Missense_Mutation_p.K279R|APAF1_ENST00000333991.1_Missense_Mutation_p.K290R|APAF1_ENST00000357310.1_Missense_Mutation_p.K290R	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	290	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGAAAGGAAAAAGGACTTGAA	0.313																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(868-870)aAa>aGa		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						58.0	60.0	59.0					12																	99056498		2201	4299	6500	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056498A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.869A>G	12.37:g.99056498A>G	ENSP00000448165:p.Lys290Arg					APAF1_ENST00000547045.1_Missense_Mutation_p.K290R|APAF1_ENST00000552268.1_Missense_Mutation_p.K290R|APAF1_ENST00000359972.2_Missense_Mutation_p.K279R|APAF1_ENST00000551964.1_Missense_Mutation_p.K290R|APAF1_ENST00000333991.1_Missense_Mutation_p.K290R|APAF1_ENST00000550527.1_Missense_Mutation_p.K279R|APAF1_ENST00000339433.3_Missense_Mutation_p.K290R|APAF1_ENST00000549007.1_Missense_Mutation_p.K290R	p.K290R	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			7	1446	+			290			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.869A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685491	0.88639	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.56	5.56	0.83823	NB-ARC (1);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;0.994;0.997;0.988	P;D;D;D;D	0.91635	0.902;0.999;0.96;0.97;0.963	D	0.89092	0.3483	10	0.87932	D	0	-22.3317	15.7202	0.77705	1.0:0.0:0.0:0.0	.	290;290;279;290;279	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	R	290;279;290;290;290;290;279;290;290	ENSP00000448165:K290R;ENSP00000353059:K279R;ENSP00000349862:K290R;ENSP00000341830:K290R;ENSP00000334558:K290R;ENSP00000448826:K290R;ENSP00000448449:K279R;ENSP00000449791:K290R;ENSP00000448161:K290R	ENSP00000334558:K290R	K	+	2	0	APAF1	97580629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.792000	0.91856	2.103000	0.63969	0.533000	0.62120	AAA		0.313	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		20	82	0	0	0	0.557998	0	20	82				
LIFR	3977	broad.mit.edu	37	5	38484967	38484967	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:38484967A>T	ENST00000263409.4	-	18	2663	c.2501T>A	c.(2500-2502)gTg>gAg	p.V834E	LIFR_ENST00000453190.2_Missense_Mutation_p.V834E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	834					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATTAATCCCACAGCTGAAAC	0.368			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2500-2502)gTg>gAg		leukemia inhibitory factor receptor alpha							66.0	63.0	64.0					5																	38484967		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38484967A>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2501T>A	5.37:g.38484967A>T	ENSP00000263409:p.Val834Glu					LIFR_ENST00000453190.2_Missense_Mutation_p.V834E	p.V834E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			18	2663	-	all_lung(31;0.00021)		834					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2501T>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.391117	0.25118	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56103	0.48;0.48	5.67	2.95	0.34219	Fibronectin, type III (1);	0.830884	0.11057	N	0.604387	T	0.30792	0.0776	N	0.04880	-0.145	0.38731	D	0.95366	B	0.13145	0.007	B	0.09377	0.004	T	0.08680	-1.0710	10	0.21014	T	0.42	-8.4917	12.0032	0.53243	0.7573:0.0:0.0:0.2427	.	834	P42702	LIFR_HUMAN	E	834	ENSP00000263409:V834E;ENSP00000398368:V834E	ENSP00000263409:V834E	V	-	2	0	LIFR	38520724	0.997000	0.39634	0.996000	0.52242	0.907000	0.53573	3.616000	0.54174	0.953000	0.37825	0.460000	0.39030	GTG		0.368	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		24	18	0	0	0	0.750413	0	24	18				
NAV3	89795	broad.mit.edu	37	12	78511822	78511822	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:78511822G>A	ENST00000397909.2	+	14	2958	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	NAV3_ENST00000266692.7_Missense_Mutation_p.E929K|NAV3_ENST00000536525.2_Missense_Mutation_p.E929K|NAV3_ENST00000228327.6_Missense_Mutation_p.E929K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	929						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACAGATTCAGAGAAACGCTC	0.378										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2785-2787)Gag>Aag		neuron navigator 3							112.0	116.0	115.0					12																	78511822		1859	4108	5967	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78511822G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2785G>A	12.37:g.78511822G>A	ENSP00000381007:p.Glu929Lys	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.E929K|NAV3_ENST00000266692.7_Missense_Mutation_p.E929K|NAV3_ENST00000536525.2_Missense_Mutation_p.E929K	p.E929K			Q8IVL0	NAV3_HUMAN			14	2958	+			929					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2785G>A		.	.	.	.	.	.	.	.	.	.	G	18.38	3.610293	0.66558	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.40385	U	0.001109	T	0.61211	0.2329	M	0.62723	1.935	0.80722	D	1	B;P;D	0.71674	0.021;0.737;0.998	B;B;D	0.78314	0.028;0.301;0.991	T	0.59899	-0.7367	10	0.87932	D	0	-23.164	20.5948	0.99439	0.0:0.0:1.0:0.0	.	929;929;929	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	K	929	ENSP00000446132:E929K;ENSP00000381007:E929K;ENSP00000228327:E929K;ENSP00000266692:E929K	ENSP00000228327:E929K	E	+	1	0	NAV3	77035953	1.000000	0.71417	0.990000	0.47175	0.467000	0.32768	8.598000	0.90852	2.873000	0.98535	0.563000	0.77884	GAG		0.378	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		40	186	0	0	0	0.840704	0	40	186				
PPFIA2	8499	broad.mit.edu	37	12	81768486	81768486	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:81768486T>A	ENST00000549396.1	-	11	1353	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L	PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q398L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	398	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCATGGTCTGCTGCAACTT	0.463																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1192-1194)cAg>cTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							147.0	136.0	139.0					12																	81768486		1931	4125	6056	SO:0001583	missense	8499							g.chr12:81768486T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1193A>T	12.37:g.81768486T>A	ENSP00000450337:p.Gln398Leu					PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299L	p.Q398L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			10	1488	-			324					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1193A>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.882655|4.882655	0.91740|0.91740	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.38401|.	1.14;1.14;1.14;1.14;1.14;1.14;1.14|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84929|.	0.5581|.	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P|.	0.45126|.	0.851|.	P|.	0.58391|.	0.838|.	D|.	0.88140|.	0.2844|.	10|.	0.87932|.	D|.	0|.	-15.5927|-15.5927	16.3694|16.3694	0.83347|0.83347	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	398|.	O75334|.	LIPA2_HUMAN|.	L|X	398;380;324;409;380;398;299;398|237	ENSP00000450337:Q398L;ENSP00000450298:Q380L;ENSP00000385093:Q324L;ENSP00000327416:Q380L;ENSP00000449338:Q398L;ENSP00000388373:Q299L;ENSP00000447868:Q398L|.	ENSP00000327416:Q380L|.	Q|R	-|-	2|1	0|2	PPFIA2|PPFIA2	80292617|80292617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	7.990000|7.990000	0.88215|0.88215	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.463	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			42	109	0	0	0	0.840704	0	42	109				
TFB2M	64216	broad.mit.edu	37	1	246704441	246704441	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246704441T>C	ENST00000366514.4	-	8	1268	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	361					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TGTTAACTACTTTCTCATCCT	0.353																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1081-1083)aaA>aaG		transcription factor B2, mitochondrial							135.0	116.0	122.0					1																	246704441		2203	4300	6503	SO:0001819	synonymous_variant	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246704441T>C	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1083A>G	1.37:g.246704441T>C							p.K361K	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		8	1268	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		361					Q9H626	Silent	SNP	ENST00000366514.4	37	c.1083A>G	CCDS1627.1																																																																																				0.353	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		8	111	0	0	0	0.278610	0	8	111				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	ENST00000269305.4		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"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(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	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	p.R337C	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	12	0	0	0	0.557998	0	17	12				
ADAMTS9	56999	broad.mit.edu	37	3	64582637	64582637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:64582637G>A	ENST00000498707.1	-	27	4390	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1322W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1350	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAACACGCCGCTGGGATCCG	0.498																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4048-4050)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							102.0	95.0	98.0					3																	64582637		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64582637G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4048C>T	3.37:g.64582637G>A	ENSP00000418735:p.Arg1350Trp					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1322W	p.R1350W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	27	4390	-		Lung NSC(201;0.00682)	1350			TSP type-1 9.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4048C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857131	0.71834	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.53206	0.63;0.63	5.4	2.19	0.27852	.	0.069413	0.64402	D	0.000020	T	0.70649	0.3248	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.991	T	0.77440	-0.2587	10	0.87932	D	0	.	14.3516	0.66705	0.0:0.0:0.4045:0.5955	.	1322;1350;1350	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	W	1322;1350	ENSP00000295903:R1322W;ENSP00000418735:R1350W	ENSP00000295903:R1322W	R	-	1	2	ADAMTS9	64557677	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.310000	0.33551	0.656000	0.30886	0.591000	0.81541	CGG		0.498	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			24	73	0	0	0	0.706142	0	24	73				
SHE	126669	broad.mit.edu	37	1	154459001	154459001	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:154459001A>T	ENST00000304760.2	-	4	1268		c.e4+1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGAGACTCACGGCTGCTTC	0.537																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.e4+1		Src homology 2 domain containing E							61.0	64.0	63.0					1																	154459001		2203	4300	6503	SO:0001630	splice_region_variant	126669							g.chr1:154459001A>T	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1181+1T>A	1.37:g.154459001A>T								NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1268	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							Q8TEQ5	Splice_Site	SNP	ENST00000304760.2	37		CCDS30877.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486570	0.84854	.	.	ENSG00000169291	ENST00000555188;ENST00000304760	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5835	0.61917	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHE	152725625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.298000	0.89944	2.285000	0.76669	0.533000	0.62120	.		0.537	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	Intron	27	111	0	0	0	0.812448	0	27	111				
PPP1R26	9858	broad.mit.edu	37	9	138377302	138377302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:138377302G>T	ENST00000356818.2	+	4	1495	c.946G>T	c.(946-948)Gag>Tag	p.E316*	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E316*	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	316					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCAGGAGAACGAGGGCAGCAC	0.602																																						ENST00000356818.2																			0											c.(946-948)Gag>Tag		protein phosphatase 1, regulatory subunit 26							51.0	55.0	54.0					9																	138377302		2203	4300	6503	SO:0001587	stop_gained	9858					nucleolus	protein binding	g.chr9:138377302G>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.946G>T	9.37:g.138377302G>T	ENSP00000349274:p.Glu316*					PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.E316*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.E316*	p.E316*	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1495	+			316					Q86WU0|Q8WVV0|Q9Y4D3	Nonsense_Mutation	SNP	ENST00000356818.2	37	c.946G>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	39	7.691521	0.98434	.	.	ENSG00000196422	ENST00000356818	.	.	.	4.8	-4.0	0.04057	.	3.607440	0.00903	N	0.002372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	4.5643	2.869	0.05610	0.1172:0.198:0.4744:0.2104	.	.	.	.	X	316	.	ENSP00000349274:E316X	E	+	1	0	KIAA0649	137517123	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.266000	0.18534	-1.183000	0.02723	0.655000	0.94253	GAG		0.602	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		21	124	1	0	1.2644e-06	0.592651	1.40855e-06	21	124				
EDAR	10913	broad.mit.edu	37	2	109527277	109527277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:109527277C>T	ENST00000258443.2	-	8	1115	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	EDAR_ENST00000409271.1_Missense_Mutation_p.V261M|EDAR_ENST00000376651.1_Missense_Mutation_p.V261M	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	229					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGGGCCTCCACGCTCTTCCCC	0.632																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(781-783)Gtg>Atg		ectodysplasin A receptor							70.0	66.0	67.0					2																	109527277		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109527277C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.685G>A	2.37:g.109527277C>T	ENSP00000258443:p.Val229Met					EDAR_ENST00000376651.1_Missense_Mutation_p.V261M|EDAR_ENST00000258443.2_Missense_Mutation_p.V229M	p.V261M			Q9UNE0	EDAR_HUMAN			8	1224	-			229					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.781G>A	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926904	0.73327	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.92446	-3.04;-2.78;-3.04	5.11	4.23	0.50019	.	0.238758	0.41938	D	0.000786	D	0.91686	0.7372	M	0.61703	1.905	0.49798	D	0.999825	D;P	0.63880	0.993;0.776	P;B	0.48166	0.569;0.24	D	0.90369	0.4379	10	0.38643	T	0.18	-10.354	13.7671	0.63002	0.0:0.8379:0.1621:0.0	.	261;229	E9PC98;Q9UNE0	.;EDAR_HUMAN	M	261;229;261	ENSP00000386371:V261M;ENSP00000258443:V229M;ENSP00000365839:V261M	ENSP00000258443:V229M	V	-	1	0	EDAR	108893709	0.941000	0.31946	0.146000	0.22360	0.892000	0.51952	2.643000	0.46604	1.149000	0.42402	0.561000	0.74099	GTG		0.632	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			6	64	0	0	0	0.217242	0	6	64				
SH3KBP1	30011	broad.mit.edu	37	X	19725001	19725001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:19725001C>G	ENST00000397821.3	-	4	678	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E93Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E130Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	130	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCGCTTACCTCTCCTACCACC	0.582																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(388-390)Gag>Cag		SH3-domain kinase binding protein 1							85.0	68.0	74.0					X																	19725001		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19725001C>G	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.388G>C	X.37:g.19725001C>G	ENSP00000380921:p.Glu130Gln					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E130Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E93Q	p.E130Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			4	678	-			130			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.388G>C	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	c	19.85	3.903926	0.72754	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.92	5.04	0.67666	Src homology-3 domain (3);Variant SH3 (1);	0.476928	0.25022	N	0.033744	T	0.53658	0.1810	L	0.31065	0.9	0.80722	D	1	P;P	0.48911	0.917;0.904	P;P	0.61003	0.882;0.614	T	0.48906	-0.8993	10	0.32370	T	0.25	-14.6789	14.8564	0.70341	0.0:0.8591:0.1408:0.0	.	130;93	Q96B97;Q5JPT5	SH3K1_HUMAN;.	Q	71;130;38;93;66;130;77;38	ENSP00000380921:E130Q;ENSP00000369020:E93Q;ENSP00000369049:E66Q;ENSP00000369019:E130Q;ENSP00000388766:E77Q;ENSP00000409292:E38Q	ENSP00000369019:E130Q	E	-	1	0	SH3KBP1	19634922	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.323000	0.72891	1.218000	0.43458	0.597000	0.82753	GAG		0.582	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		17	25	0	0	0	0.539581	0	17	25				
LRP1B	53353	broad.mit.edu	37	2	141643801	141643801	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141643801T>A	ENST00000389484.3	-	24	4841	c.3870A>T	c.(3868-3870)acA>acT	p.T1290T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1290					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)		CAAGTGCTATTGTGTTTCTCA	0.358										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.(3868-3870)acA>acT		low density lipoprotein receptor-related protein 1B							83.0	85.0	84.0					2																	141643801		2203	4295	6498	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643801T>A	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.3870A>T	2.37:g.141643801T>A		TSP Lung(27;0.18)					p.T1290T	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)	24	4841	-		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)	1290					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3870A>T	CCDS2182.1																																																																																				0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	95	0	0	0	0.796494	0	34	95				
HELZ2	85441	broad.mit.edu	37	20	62197377	62197377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:62197377C>T	ENST00000467148.1	-	8	2867	c.2798G>A	c.(2797-2799)cGt>cAt	p.R933H	HELZ2_ENST00000427522.2_Missense_Mutation_p.R364H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	933	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CACGCACTCACGGATGAAGCT	0.701																																						ENST00000467148.1																			0											c.(2797-2799)cGt>cAt		helicase with zinc finger 2, transcriptional coactivator							16.0	15.0	16.0					20																	62197377		2175	4286	6461	SO:0001583	missense	85441							g.chr20:62197377C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2798G>A	20.37:g.62197377C>T	ENSP00000417401:p.Arg933His					HELZ2_ENST00000427522.2_Missense_Mutation_p.R364H	p.R933H	NM_001037335.2	NP_001032412.2					8	2867	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2798G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082898	0.36758	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82344	-1.6;-1.6	4.09	0.294	0.15747	.	0.754074	0.10820	U	0.630597	T	0.70448	0.3225	L	0.39898	1.24	0.19300	N	0.999974	B;B	0.28082	0.053;0.2	B;B	0.17722	0.006;0.019	T	0.60198	-0.7310	10	0.62326	D	0.03	-14.378	2.875	0.05628	0.2094:0.4074:0.0:0.3832	.	933;364	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	H	364;933	ENSP00000393257:R364H;ENSP00000417401:R933H	ENSP00000393257:R364H	R	-	2	0	RP4-697K14.7	61667821	0.170000	0.23016	0.381000	0.26106	0.114000	0.19823	0.599000	0.24089	0.191000	0.20236	0.313000	0.20887	CGT		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	12	0	0	0	0.150653	0	4	12				
LRRC4B	94030	broad.mit.edu	37	19	51021898	51021898	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:51021898G>T	ENST00000599957.1	-	3	1269	c.1072C>A	c.(1072-1074)Cat>Aat	p.H358N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H358N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	358	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTGAAATGCGACTGGTCC	0.667																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1072-1074)Cat>Aat		leucine rich repeat containing 4B							47.0	54.0	52.0					19																	51021898		2112	4215	6327	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021898G>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1072C>A	19.37:g.51021898G>T	ENSP00000471502:p.His358Asn					LRRC4B_ENST00000389201.3_Missense_Mutation_p.H358N	p.H358N			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1269	-		all_neural(266;0.131)	358			LRRCT.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1072C>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.667867	0.29604	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57907	0.37	3.9	3.9	0.45041	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.30727	0.0774	N	0.10707	0.03	0.49213	D	0.999763	B	0.10296	0.003	B	0.13407	0.009	T	0.10222	-1.0639	10	0.16896	T	0.51	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	358	Q9NT99	LRC4B_HUMAN	N	358	ENSP00000373853:H358N	ENSP00000373853:H358N	H	-	1	0	LRRC4B	55713710	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.815000	0.55651	2.192000	0.70111	0.561000	0.74099	CAT		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		16	51	1	0	2.48551e-13	0.520397	3.05084e-13	16	51				
FOXP3	50943	broad.mit.edu	37	X	49107877	49107877	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:49107877A>C	ENST00000376207.4	-	12	1401	c.1214T>G	c.(1213-1215)gTg>gGg	p.V405G	FOXP3_ENST00000557224.1_Missense_Mutation_p.V430G|FOXP3_ENST00000376199.2_Missense_Mutation_p.V370G|FOXP3_ENST00000455775.2_Missense_Mutation_p.V378G|FOXP3_ENST00000376197.1_Missense_Mutation_p.V415G|FOXP3_ENST00000518685.1_Missense_Mutation_p.V370G	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	405					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACGGTCCACACAGCCCCCTT	0.617																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(1213-1215)gTg>gGg		forkhead box P3							93.0	65.0	75.0					X																	49107877		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding	g.chrX:49107877A>C		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1214T>G	X.37:g.49107877A>C	ENSP00000365380:p.Val405Gly					FOXP3_ENST00000376199.2_Missense_Mutation_p.V370G|FOXP3_ENST00000376197.1_Missense_Mutation_p.V415G|FOXP3_ENST00000518685.1_Missense_Mutation_p.V370G|FOXP3_ENST00000455775.2_Missense_Mutation_p.V378G|FOXP3_ENST00000557224.1_Missense_Mutation_p.V430G	p.V405G	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN			12	1401	-	Ovarian(276;0.236)		405					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.1214T>G	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315919	0.81469	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.58	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.38164	N	0.001784	D	0.97297	0.9116	M	0.80616	2.505	0.80722	D	1	P;D;D;P;P	0.89917	0.935;0.972;1.0;0.935;0.867	P;P;D;P;B	0.91635	0.575;0.735;0.999;0.575;0.322	D	0.97057	0.9768	10	0.46703	T	0.11	.	12.1704	0.54155	1.0:0.0:0.0:0.0	.	378;428;430;405;370	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	G	405;370;430;370;415;378	ENSP00000365380:V405G;ENSP00000365372:V370G;ENSP00000451208:V430G;ENSP00000428952:V370G;ENSP00000365369:V415G;ENSP00000396415:V378G	ENSP00000365369:V415G	V	-	2	0	FOXP3	48994821	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.111000	0.77077	1.504000	0.48704	0.352000	0.21897	GTG		0.617	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		4	31	0	0	0	0.150653	0	4	31				
JAK1	3716	broad.mit.edu	37	1	65335021	65335021	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:65335021T>A	ENST00000342505.4	-	6	868	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	207	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCTGGCAACTGCATCTTCTT	0.488			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(619-621)cAg>cTg		Janus kinase 1							150.0	145.0	147.0					1																	65335021		2041	4197	6238	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65335021T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.620A>T	1.37:g.65335021T>A	ENSP00000343204:p.Gln207Leu						p.Q207L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	6	868	-			207			FERM.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.620A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499480	0.44455	.	.	ENSG00000162434	ENST00000342505	T	0.70164	-0.46	5.33	5.33	0.75918	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.38799	0.1054	L	0.34521	1.04	0.34189	D	0.671821	B	0.17667	0.023	B	0.11329	0.006	T	0.34576	-0.9823	9	0.39692	T	0.17	.	10.7836	0.46393	0.0:0.0742:0.0:0.9258	.	207	P23458	JAK1_HUMAN	L	207	ENSP00000343204:Q207L	ENSP00000343204:Q207L	Q	-	2	0	JAK1	65107609	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	1.289000	0.33307	2.152000	0.67230	0.533000	0.62120	CAG		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		56	142	0	0	0	0.870114	0	56	142				
RP1L1	94137	broad.mit.edu	37	8	10468035	10468035	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:10468035C>G	ENST00000382483.3	-	4	3796	c.3573G>C	c.(3571-3573)gaG>gaC	p.E1191D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1191					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGTGAAGTTCTCCGTCATGG	0.627																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3571-3573)gaG>gaC		retinitis pigmentosa 1-like 1							47.0	52.0	50.0					8																	10468035		2134	4240	6374	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468035C>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3573G>C	8.37:g.10468035C>G	ENSP00000371923:p.Glu1191Asp						p.E1191D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3796	-			1191					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3573G>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.188	1.025328	0.19433	.	.	ENSG00000183638	ENST00000382483	T	0.04706	3.57	4.74	1.78	0.24846	.	0.000000	0.35407	N	0.003229	T	0.03136	0.0092	L	0.32530	0.975	0.09310	N	1	B	0.30824	0.296	B	0.22753	0.041	T	0.40117	-0.9580	10	0.87932	D	0	-13.7288	2.6887	0.05115	0.3477:0.3089:0.2567:0.0867	.	1191	A6NKC6	.	D	1191	ENSP00000371923:E1191D	ENSP00000371923:E1191D	E	-	3	2	RP1L1	10505445	0.997000	0.39634	0.169000	0.22859	0.050000	0.14768	0.979000	0.29500	1.177000	0.42855	0.561000	0.74099	GAG		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			24	36	0	0	0	0.654019	0	24	36				
SHANK2	22941	broad.mit.edu	37	11	70331650	70331650	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:70331650G>A	ENST00000423696.2	-	15	3647	c.3611C>T	c.(3610-3612)cCg>cTg	p.P1204L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P987L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P988L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1584L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1204					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cggcgggggcgggggagcggg	0.567																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4750-4752)cCg>cTg		SH3 and multiple ankyrin repeat domains 2							36.0	45.0	42.0					11																	70331650		2199	4287	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331650G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3611C>T	11.37:g.70331650G>A	ENSP00000394536:p.Pro1204Leu					SHANK2_ENST00000409161.1_Missense_Mutation_p.P987L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P988L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1204L	p.P1584L			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4750	-			1204					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4751C>T		.	.	.	.	.	.	.	.	.	.	G	16.77	3.214577	0.58452	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.38722	2.42;2.42;3.14;1.12;2.54;2.55	5.42	3.56	0.40772	.	0.167388	0.53938	D	0.000046	T	0.60392	0.2265	M	0.72118	2.19	0.80722	D	1	B;D;B	0.89917	0.239;1.0;0.439	B;D;B	0.69654	0.037;0.965;0.141	T	0.62676	-0.6804	10	0.72032	D	0.01	.	12.103	0.53796	0.1399:0.0:0.8601:0.0	.	1204;1583;988	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	988;987;862;1584;1204;1222;1207	ENSP00000399423:P988L;ENSP00000386491:P987L;ENSP00000402944:P862L;ENSP00000345193:P1584L;ENSP00000394536:P1204L;ENSP00000294018:P1207L	ENSP00000294018:P1207L	P	-	2	0	SHANK2	70009298	1.000000	0.71417	0.135000	0.22099	0.924000	0.55760	6.136000	0.71703	0.668000	0.31126	0.655000	0.94253	CCG		0.567	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		29	160	0	0	0	0.706142	0	29	160				
OLFM3	118427	broad.mit.edu	37	1	102270397	102270397	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270397C>A	ENST00000338858.5	-	6	833	c.834G>T	c.(832-834)ggG>ggT	p.G278G	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Silent_p.G258G			Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGATTCAGCCCCACTGACAA	0.368																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(772-774)ggG>ggT		olfactomedin 3							89.0	84.0	86.0					1																	102270397		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102270397C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.834G>T	1.37:g.102270397C>A						OLFM3_ENST00000338858.5_Silent_p.G278G|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	p.G258G	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	987	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	278			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.774G>T																																																																																					0.368	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			27	110	1	0	1.26454e-06	0.693898	1.40855e-06	27	110				
LRP1B	53353	broad.mit.edu	37	2	141299474	141299474	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141299474A>T	ENST00000389484.3	-	44	8232	c.7261T>A	c.(7261-7263)Tcg>Acg	p.S2421T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2421					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)		CCCCAGTCCGACCAGAATATA	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.(7261-7263)Tcg>Acg		low density lipoprotein receptor-related protein 1B							98.0	92.0	94.0					2																	141299474		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299474A>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.7261T>A	2.37:g.141299474A>T	ENSP00000374135:p.Ser2421Thr	TSP Lung(27;0.18)					p.S2421T	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)	44	8232	-		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)	2421					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7261T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	6.307	0.424798	0.11987	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.46	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000005	T	0.71039	0.3293	N	0.02202	-0.64	0.42263	D	0.992026	B	0.09022	0.002	B	0.09377	0.004	T	0.64351	-0.6428	10	0.02654	T	1	.	6.9937	0.24769	0.7951:0.0:0.0723:0.1325	.	2421	Q9NZR2	LRP1B_HUMAN	T	2421;2359	ENSP00000374135:S2421T	ENSP00000374135:S2421T	S	-	1	0	LRP1B	141015944	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.415000	0.52700	0.912000	0.36772	0.402000	0.26972	TCG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		40	106	0	0	0	0.804634	0	40	106				
ZNF493	284443	broad.mit.edu	37	19	21587932	21587932	+	Intron	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:21587932G>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000392288.2_Splice_Site_p.G11E|ZNF493_ENST00000596302.1_Splice_Site_p.G11E|ZNF493_ENST00000594390.1_Splice_Site_p.G11E|CTD-2561J22.3_ENST00000600810.1_5'Flank|ZNF493_ENST00000339914.6_Splice_Site_p.G11E	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ttgtTTCAGGGGCCGTTGACA	0.413																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.e2-1		zinc finger protein 493							65.0	69.0	67.0					19																	21587932		2203	4300	6503	SO:0001627	intron_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21587932G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+7863G>A	19.37:g.21587932G>A						ZNF493_ENST00000339914.6_Splice_Site_p.G11_splice|ZNF493_ENST00000594390.1_Splice_Site_p.G11_splice|ZNF493_ENST00000596302.1_Splice_Site_p.G11_splice|ZNF493_ENST00000355504.4_Intron	p.G11_splice	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			2	141	+			0					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Splice_Site	SNP	ENST00000355504.4	37	c.30_splice	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	9.317	1.057093	0.19907	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.00801	5.68;5.68	1.14	-1.01	0.10169	.	.	.	.	.	T	0.01287	0.0042	N	0.10874	0.06	0.09310	N	1	D;P	0.76494	0.999;0.524	D;B	0.76575	0.988;0.329	T	0.53429	-0.8440	9	0.33141	T	0.24	.	3.6718	0.08277	0.4737:0.0:0.5263:0.0	.	11;11	Q6ZR52-2;G5E974	.;.	E	11	ENSP00000376110:G11E;ENSP00000340651:G11E	ENSP00000340651:G11E	G	+	2	0	ZNF493	21379772	0.626000	0.27120	0.030000	0.17652	0.061000	0.15899	-0.225000	0.09151	-0.279000	0.09167	0.411000	0.27672	GGG		0.413	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		33	106	0	0	0	0.804634	0	33	106				
SELP	6403	broad.mit.edu	37	1	169582194	169582194	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:169582194A>T	ENST00000263686.6	-	5	785	c.748T>A	c.(748-750)Tgg>Agg	p.W250R	SELP_ENST00000367794.2_Missense_Mutation_p.W250R|SELP_ENST00000367786.2_Missense_Mutation_p.W250R|SELP_ENST00000367788.2_Missense_Mutation_p.W250R|SELP_ENST00000458599.2_Missense_Mutation_p.W250R|SELP_ENST00000367791.2_Missense_Mutation_p.W250R|SELP_ENST00000367793.2_Missense_Mutation_p.W250R|SELP_ENST00000367792.2_Missense_Mutation_p.W250R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	250	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTATTTGTCCAGATTCCAGAA	0.458																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(748-750)Tgg>Agg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						93.0	95.0	94.0					1																	169582194		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582194A>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.748T>A	1.37:g.169582194A>T	ENSP00000263686:p.Trp250Arg					SELP_ENST00000367786.2_Missense_Mutation_p.W250R|SELP_ENST00000458599.2_Missense_Mutation_p.W250R|SELP_ENST00000367794.2_Missense_Mutation_p.W250R|SELP_ENST00000367793.2_Missense_Mutation_p.W250R|SELP_ENST00000367792.2_Missense_Mutation_p.W250R|SELP_ENST00000367791.2_Missense_Mutation_p.W250R|SELP_ENST00000367788.2_Missense_Mutation_p.W250R	p.W250R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			5	785	-	all_hematologic(923;0.208)		250			Sushi 1.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.748T>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.870003|2.870003	0.51588|0.51588	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|D;D;D;D;D;D;D	.|0.91068	.|-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.53938	.|D	.|0.000054	D|D	0.97182|0.97182	0.9079|0.9079	H|H	0.98951|0.98951	4.38|4.38	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98602|0.98602	1.0659|1.0659	5|10	.|0.87932	.|D	.|0	-23.7408|-23.7408	14.1188|14.1188	0.65172|0.65172	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250;250;250	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	Q|R	249|250;250;249;250;250;250;250;250;250;250;250;250;235	.|ENSP00000263686:W250R;ENSP00000356767:W250R;ENSP00000356768:W250R;ENSP00000356766:W250R;ENSP00000356765:W250R;ENSP00000356762:W250R;ENSP00000356760:W250R	.|ENSP00000263686:W250R	L|W	-|-	2|1	0|0	SELP|SELP	167848818|167848818	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.012000|0.012000	0.07955|0.07955	8.045000|8.045000	0.89436|0.89436	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.458	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		32	105	0	0	0	0.769981	0	32	105				
TMTC1	83857	broad.mit.edu	37	12	29786262	29786262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:29786262T>C	ENST00000539277.1	-	6	1004	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	TMTC1_ENST00000551659.1_Missense_Mutation_p.T378A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.T208A|TMTC1_ENST00000381224.2_Missense_Mutation_p.T270A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T378A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	316						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGGAATAGGTGAGGAATCTA	0.438																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(622-624)Acc>Gcc		transmembrane and tetratricopeptide repeat containing 1							75.0	65.0	69.0					12																	29786262		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786262T>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.946A>G	12.37:g.29786262T>C	ENSP00000442046:p.Thr316Ala					TMTC1_ENST00000552618.1_Missense_Mutation_p.T378A|TMTC1_ENST00000551659.1_Missense_Mutation_p.T378A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.T316A|TMTC1_ENST00000381224.2_Missense_Mutation_p.T270A	p.T208A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			6	1095	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		316					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.622A>G	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.625711	0.87560	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.53	5.53	0.82687	Domain of unknown function DUF1736 (1);	0.105012	0.64402	D	0.000004	T	0.70692	0.3253	M	0.84156	2.68	0.47698	D	0.999494	D;D;D	0.89917	1.0;0.996;0.999	D;P;D	0.87578	0.998;0.869;0.997	T	0.74598	-0.3612	9	.	.	.	-23.9491	14.4869	0.67624	0.0:0.0:0.0:1.0	.	270;316;378	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	A	79;208;378;378;316;270	ENSP00000256062:T208A;ENSP00000448112:T378A;ENSP00000449043:T378A;ENSP00000442046:T316A;ENSP00000370622:T270A	.	T	-	1	0	TMTC1	29677529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.185000	0.77714	2.096000	0.63516	0.533000	0.62120	ACC		0.438	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		8	120	0	0	0	0.361761	0	8	120				
ELMO1	9844	broad.mit.edu	37	7	37298793	37298793	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37298793C>A	ENST00000310758.4	-	6	1053	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	ELMO1_ENST00000442504.1_Missense_Mutation_p.G136C|ELMO1_ENST00000448602.1_Missense_Mutation_p.G136C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	136					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACTCAGTGCCGCTCTCCACC	0.502																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(406-408)Ggc>Tgc		engulfment and cell motility 1							49.0	48.0	48.0					7																	37298793		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37298793C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.406G>T	7.37:g.37298793C>A	ENSP00000312185:p.Gly136Cys					ELMO1_ENST00000448602.1_Missense_Mutation_p.G136C|ELMO1_ENST00000442504.1_Missense_Mutation_p.G136C	p.G136C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			6	1053	-			136					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.406G>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084137	0.94100	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78226	-0.2286	10	0.72032	D	0.01	.	19.5605	0.95369	0.0:1.0:0.0:0.0	.	136	Q92556	ELMO1_HUMAN	C	136;40;136;136;136;136	ENSP00000312185:G136C;ENSP00000406952:G136C;ENSP00000394458:G136C;ENSP00000406610:G136C;ENSP00000416090:G136C	ENSP00000312185:G136C	G	-	1	0	ELMO1	37265318	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	7.818000	0.86416	2.713000	0.92767	0.591000	0.81541	GGC		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		12	33	1	0	0.000978159	0.387290	0.0010274	12	33				
ZNF75D	7626	broad.mit.edu	37	X	134421766	134421766	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:134421766T>A	ENST00000370766.3	-	7	3545	c.836A>T	c.(835-837)aAa>aTa	p.K279I	ZNF75D_ENST00000370764.1_Missense_Mutation_p.K184I|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	279	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTGTCATTTTTTAGCTTTAA	0.348																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(835-837)aAa>aTa		zinc finger protein 75D							64.0	55.0	58.0					X																	134421766		2202	4299	6501	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421766T>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.836A>T	X.37:g.134421766T>A	ENSP00000359802:p.Lys279Ile					ZNF75D_ENST00000370764.1_Missense_Mutation_p.K184I|ZNF75D_ENST00000494295.1_Intron	p.K279I	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3545	-			279			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.836A>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	T	7.313	0.615485	0.14129	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.07688	3.18;3.17	2.94	0.512	0.16994	Krueppel-associated box (2);	0.213426	0.23752	N	0.044915	T	0.07324	0.0185	L	0.27053	0.805	0.22240	N	0.999264	D;P	0.54964	0.969;0.845	P;B	0.49477	0.612;0.278	T	0.28106	-1.0054	10	0.39692	T	0.17	.	5.5828	0.17258	0.0:0.2786:0.0:0.7214	.	279;184	P51815;A6NK62	ZN75D_HUMAN;.	I	279;184	ENSP00000359802:K279I;ENSP00000359800:K184I	ENSP00000359800:K184I	K	-	2	0	ZNF75D	134249432	0.000000	0.05858	0.351000	0.25721	0.124000	0.20399	-0.724000	0.04947	0.014000	0.14944	0.339000	0.21740	AAA		0.348	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		46	44	0	0	0	0.847076	0	46	44				
HACE1	57531	broad.mit.edu	37	6	105243517	105243517	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:105243517T>C	ENST00000262903.4	-	10	1136	c.860A>G	c.(859-861)cAg>cGg	p.Q287R	HACE1_ENST00000369125.2_Missense_Mutation_p.Q287R	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	287					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTTAGGTACTGGCTTTCACT	0.338																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(859-861)cAg>cGg		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							129.0	118.0	122.0					6																	105243517		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105243517T>C	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.860A>G	6.37:g.105243517T>C	ENSP00000262903:p.Gln287Arg					HACE1_ENST00000369125.2_Missense_Mutation_p.Q287R	p.Q287R	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	10	1136	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	287					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.860A>G	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916390	0.17907	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.36878	1.23;1.25	5.72	5.72	0.89469	.	0.160689	0.56097	D	0.000028	T	0.10723	0.0262	N	0.08118	0	0.48288	D	0.99962	B;B	0.22276	0.067;0.067	B;B	0.21917	0.037;0.027	T	0.10405	-1.0631	10	0.25751	T	0.34	.	15.9989	0.80275	0.0:0.0:0.0:1.0	.	287;287	E9PGP0;Q8IYU2	.;HACE1_HUMAN	R	287	ENSP00000262903:Q287R;ENSP00000358121:Q287R	ENSP00000262903:Q287R	Q	-	2	0	HACE1	105350210	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.765000	0.68834	2.179000	0.69175	0.482000	0.46254	CAG		0.338	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		22	102	0	0	0	0.654019	0	22	102				
PLCB4	5332	broad.mit.edu	37	20	9417742	9417742	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:9417742T>A	ENST00000378493.1	+	26	2686	c.2671T>A	c.(2671-2673)Tct>Act	p.S891T	PLCB4_ENST00000414679.2_Missense_Mutation_p.S903T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.S891T|PLCB4_ENST00000378473.3_Missense_Mutation_p.S903T|PLCB4_ENST00000378501.2_Missense_Mutation_p.S891T|PLCB4_ENST00000278655.4_Missense_Mutation_p.S891T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	891					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCAGAGTAGCTCTGAGCTCAG	0.542																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2671-2673)Tct>Act		phospholipase C, beta 4							86.0	74.0	78.0					20																	9417742		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9417742T>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2671T>A	20.37:g.9417742T>A	ENSP00000367754:p.Ser891Thr					PLCB4_ENST00000378473.3_Missense_Mutation_p.S903T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.S891T|PLCB4_ENST00000278655.4_Missense_Mutation_p.S891T|PLCB4_ENST00000414679.2_Missense_Mutation_p.S903T|PLCB4_ENST00000378493.1_Missense_Mutation_p.S891T	p.S891T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			26	2686	+			891					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2671T>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559118	0.45590	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61627	2.15;2.16;0.09;0.09;2.15;1.97	6.07	6.07	0.98685	.	0.053553	0.85682	D	0.000000	T	0.41696	0.1170	N	0.22421	0.69	0.58432	D	0.999994	B;B;B;B	0.23249	0.02;0.003;0.018;0.082	B;B;B;B	0.20767	0.014;0.005;0.021;0.031	T	0.32824	-0.9892	10	0.13470	T	0.59	.	13.0603	0.59003	0.0:0.0:0.1339:0.8661	.	903;738;891;891	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	T	891;903;891;891;891;739	ENSP00000334105:S891T;ENSP00000367734:S903T;ENSP00000278655:S891T;ENSP00000367754:S891T;ENSP00000367762:S891T;ENSP00000390616:S739T	ENSP00000278655:S891T	S	+	1	0	PLCB4	9365742	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.526000	0.67116	2.326000	0.78906	0.533000	0.62120	TCT		0.542	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			7	64	0	0	0	0.248553	0	7	64				
IGLL5	100423062	broad.mit.edu	37	22	23237592	23237592	+	Silent	SNP	G	G	T	rs201305704	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:23237592G>T	ENST00000526893.1	+	3	637	c.363G>T	c.(361-363)ccG>ccT	p.P121P	IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Missense_Mutation_p.A82S|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.2_Silent_p.P122P	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	121	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCTGTTCCCGCCCTCCTCTG	0.602																																						ENST00000531372.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						c.(244-246)Gcc>Tcc		immunoglobulin lambda-like polypeptide 5							67.0	68.0	68.0					22																	23237592		2200	4294	6494	SO:0001819	synonymous_variant	100423062					extracellular region		g.chr22:23237592G>T	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.363G>T	22.37:g.23237592G>T						IGLL5_ENST00000532223.1_Silent_p.P122P|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Silent_p.P121P	p.A82S	NM_001256296.1	NP_001243225.1	B9A064	IGLL5_HUMAN			2	469	+			0						Missense_Mutation	SNP	ENST00000526893.1	37	c.244G>T	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	6.233	0.411032	0.11812	.	.	ENSG00000254709	ENST00000531372	.	.	.	3.3	-6.61	0.01818	.	.	.	.	.	T	0.25382	0.0617	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.29027	-1.0025	5	0.20046	T	0.44	.	9.0118	0.36146	0.7145:0.0:0.1681:0.1175	.	.	.	.	S	82	.	ENSP00000434368:A82S	A	+	1	0	IGLL5	21567592	0.000000	0.05858	0.230000	0.23976	0.019000	0.09904	-2.450000	0.01007	-1.778000	0.01282	-0.231000	0.12243	GCC		0.602	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		7	31	1	0	8.12818e-05	0.248553	8.71275e-05	7	31				
NEK6	10783	broad.mit.edu	37	9	127089616	127089616	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:127089616G>A	ENST00000320246.5	+	7	659		c.e7-1		NEK6_ENST00000373603.1_Splice_Site|NEK6_ENST00000394199.2_Splice_Site|NEK6_ENST00000546191.1_Splice_Site|NEK6_ENST00000539416.1_Splice_Site|NEK6_ENST00000540326.1_Splice_Site|NEK6_ENST00000545174.1_Splice_Site|NEK6_ENST00000373600.3_Splice_Site	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCGCCCTGCAGACATCAAGCC	0.632																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.e8-1		NIMA-related kinase 6							250.0	221.0	231.0					9																	127089616		2203	4300	6503	SO:0001630	splice_region_variant	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127089616G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.515-1G>A	9.37:g.127089616G>A						NEK6_ENST00000545174.1_Splice_Site|NEK6_ENST00000320246.5_Splice_Site|NEK6_ENST00000546191.1_Splice_Site|NEK6_ENST00000540326.1_Splice_Site|NEK6_ENST00000394199.2_Splice_Site|NEK6_ENST00000539416.1_Splice_Site|NEK6_ENST00000373603.1_Splice_Site		NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			8	831	+								B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Splice_Site	SNP	ENST00000320246.5	37		CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272084	0.80469	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7323	0.91739	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK6	126129437	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.219000	0.95173	2.751000	0.94390	0.650000	0.86243	.		0.632	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	Intron	100	233	0	0	0	0.870114	0	100	233				
GHDC	84514	broad.mit.edu	37	17	40342689	40342689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:40342689G>A	ENST00000301671.8	-	7	1682	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	GHDC_ENST00000428494.2_Missense_Mutation_p.A375V|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.A414V|GHDC_ENST00000414034.3_Missense_Mutation_p.A414V|GHDC_ENST00000436923.2_Missense_Mutation_p.A414V|GHDC_ENST00000587427.1_Missense_Mutation_p.A414V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	414						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGGCCCCCGCCCACTGCCC	0.627																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1240-1242)gCg>gTg		GH3 domain containing							34.0	34.0	34.0					17																	40342689		2203	4300	6503	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40342689G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1241C>T	17.37:g.40342689G>A	ENSP00000301671:p.Ala414Val					GHDC_ENST00000414034.3_Missense_Mutation_p.A414V|GHDC_ENST00000587427.1_Missense_Mutation_p.A414V|GHDC_ENST00000428494.2_Missense_Mutation_p.A375V|GHDC_ENST00000436923.2_Missense_Mutation_p.A414V|GHDC_ENST00000593209.1_Missense_Mutation_p.A414V	p.A414V			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	7	1682	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	414					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.1241C>T	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157940	0.38119	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.18	3.18	0.36537	.	0.066868	0.64402	D	0.000009	T	0.19208	0.0461	N	0.14661	0.345	0.25165	N	0.990324	B;B;P	0.36535	0.076;0.429;0.557	B;B;B	0.30646	0.004;0.107;0.118	T	0.08534	-1.0717	9	0.30078	T	0.28	-3.7762	12.5062	0.55981	0.0:0.0:0.8325:0.1675	.	375;414;414	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	V	358;375;414;414;414	.	ENSP00000301671:A414V	A	-	2	0	GHDC	37596215	1.000000	0.71417	0.978000	0.43139	0.088000	0.18126	3.832000	0.55783	0.928000	0.37168	0.561000	0.74099	GCG		0.627	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		4	56	0	0	0	0.184627	0	4	56				
NPAP1	23742	broad.mit.edu	37	15	24922320	24922320	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:24922320C>A	ENST00000329468.2	+	1	1780	c.1306C>A	c.(1306-1308)Ccc>Acc	p.P436T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	436	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCTACTGGACCCCTCATCCT	0.542																																						ENST00000329468.2																			0											c.(1306-1308)Ccc>Acc		nuclear pore associated protein 1							136.0	124.0	128.0					15																	24922320		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922320C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1306C>A	15.37:g.24922320C>A	ENSP00000333735:p.Pro436Thr						p.P436T	NM_018958.2	NP_061831.2					1	1780	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1306C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.53	1.966178	0.34659	.	.	ENSG00000185823	ENST00000329468	T	0.06768	3.26	2.36	0.404	0.16355	.	1.241470	0.05859	N	0.622718	T	0.15349	0.0370	L	0.39898	1.24	0.09310	N	1	D	0.65815	0.995	D	0.66351	0.943	T	0.30534	-0.9975	10	0.24483	T	0.36	.	4.2584	0.10728	0.0:0.6384:0.0:0.3616	.	436	Q9NZP6	CO002_HUMAN	T	436	ENSP00000333735:P436T	ENSP00000333735:P436T	P	+	1	0	C15orf2	22473413	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.272000	0.08560	0.105000	0.17753	0.313000	0.20887	CCC		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		37	105	1	0	6.70999e-13	0.796494	8.20401e-13	37	105				
KIAA0319	9856	broad.mit.edu	37	6	24596542	24596542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:24596542C>G	ENST00000378214.3	-	3	884	c.360G>C	c.(358-360)atG>atC	p.M120I	KIAA0319_ENST00000535378.1_Missense_Mutation_p.M111I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.M120I|KIAA0319_ENST00000430948.2_Missense_Mutation_p.M75I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.M120I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	120					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCTGTTCAGCATCATGTCCC	0.557																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(331-333)atG>atC		KIAA0319							66.0	74.0	71.0					6																	24596542		2202	4299	6501	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596542C>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.360G>C	6.37:g.24596542C>G	ENSP00000367459:p.Met120Ile					KIAA0319_ENST00000537886.1_Missense_Mutation_p.M120I|KIAA0319_ENST00000378214.3_Missense_Mutation_p.M120I|KIAA0319_ENST00000430948.2_Missense_Mutation_p.M75I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.M120I	p.M111I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	975	-			120					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.333G>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133344	0.21041	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	4.43	4.43	0.53597	.	0.098040	0.44902	D	0.000403	T	0.01523	0.0049	N	0.20986	0.625	0.09310	N	0.999994	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.12156	0.007;0.005;0.002	T	0.44298	-0.9337	10	0.31617	T	0.26	-15.5068	8.0549	0.30600	0.0:0.7458:0.163:0.0912	.	120;111;120	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	I	120;111;75;120;120	ENSP00000439700:M120I;ENSP00000442403:M111I;ENSP00000401086:M75I;ENSP00000367459:M120I;ENSP00000437656:M120I	ENSP00000367459:M120I	M	-	3	0	KIAA0319	24704521	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.729000	0.26028	1.983000	0.57843	0.514000	0.50259	ATG		0.557	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		71	74	0	0	0	0.870114	0	71	74				
VNN1	8876	broad.mit.edu	37	6	133014422	133014422	+	Missense_Mutation	SNP	A	A	T	rs141622053	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:133014422A>T	ENST00000367928.4	-	4	580	c.567T>A	c.(565-567)aaT>aaA	p.N189K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	189	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTGGGTACATTGAATTGAT	0.373																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(565-567)aaT>aaA		vanin 1							65.0	64.0	65.0					6																	133014422		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133014422A>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.567T>A	6.37:g.133014422A>T	ENSP00000356905:p.Asn189Lys						p.N189K	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	4	580	-	Breast(56;0.135)		189			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.567T>A	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590645	0.46214	.	.	ENSG00000112299	ENST00000367928	D	0.85339	-1.97	5.95	4.81	0.61882	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.491870	0.21922	N	0.067150	D	0.85531	0.5718	M	0.76574	2.34	0.51767	D	0.999939	P	0.46912	0.886	P	0.51550	0.673	D	0.87755	0.2594	10	0.87932	D	0	-8.1707	11.4972	0.50415	0.9307:0.0:0.0693:0.0	.	189	O95497	VNN1_HUMAN	K	189	ENSP00000356905:N189K	ENSP00000356905:N189K	N	-	3	2	VNN1	133056115	0.891000	0.30450	0.860000	0.33809	0.036000	0.12997	1.739000	0.38217	2.279000	0.76181	0.533000	0.62120	AAT		0.373	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			17	74	0	0	0	0.539581	0	17	74				
RPGRIP1L	23322	broad.mit.edu	37	16	53708989	53708989	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53708989C>T	ENST00000379925.3	-	7	872	c.822G>A	c.(820-822)caG>caA	p.Q274Q	RPGRIP1L_ENST00000262135.4_Silent_p.Q274Q|RPGRIP1L_ENST00000563746.1_Silent_p.Q274Q|RPGRIP1L_ENST00000564374.1_Silent_p.Q274Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	274					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTCTACTAGCTGTTTATGAA	0.323																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(820-822)caG>caA		RPGRIP1-like							160.0	144.0	149.0					16																	53708989		2197	4298	6495	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53708989C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.822G>A	16.37:g.53708989C>T						RPGRIP1L_ENST00000563746.1_Silent_p.Q274Q|RPGRIP1L_ENST00000379925.3_Silent_p.Q274Q|RPGRIP1L_ENST00000564374.1_Silent_p.Q274Q	p.Q274Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			7	915	-		all_cancers(37;0.0973)	274					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.822G>A	CCDS32447.1																																																																																				0.323	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		7	107	0	0	0	0.335167	0	7	107				
CELSR2	1952	broad.mit.edu	37	1	109811810	109811810	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:109811810A>G	ENST00000271332.3	+	20	6771	c.6710A>G	c.(6709-6711)cAc>cGc	p.H2237R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2237					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)		CAGCGACGGCACCCGGAGCTG	0.682																																					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.(6709-6711)cAc>cGc		cadherin, EGF LAG seven-pass G-type receptor 2							24.0	27.0	26.0					1																	109811810		2201	4297	6498	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.chr1:109811810A>G	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.6710A>G	1.37:g.109811810A>G	ENSP00000271332:p.His2237Arg						p.H2237R	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)	20	6771	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2237					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6710A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601349	0.66445	.	.	ENSG00000143126	ENST00000271332	T	0.67865	-0.29	4.51	4.51	0.55191	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.67674	0.2918	M	0.73217	2.22	0.58432	D	0.999996	D	0.63880	0.993	D	0.65874	0.939	T	0.68773	-0.5320	9	0.09590	T	0.72	.	13.6478	0.62292	1.0:0.0:0.0:0.0	.	2237	Q9HCU4	CELR2_HUMAN	R	2237	ENSP00000271332:H2237R	ENSP00000271332:H2237R	H	+	2	0	CELSR2	109613333	0.906000	0.30813	1.000000	0.80357	0.917000	0.54804	3.065000	0.49994	1.903000	0.55091	0.379000	0.24179	CAC		0.682	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		13	53	0	0	0	0.479597	0	13	53				
TBC1D3P5	440419	broad.mit.edu	37	17	25748074	25748074	+	RNA	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:25748074C>G	ENST00000586223.1	+	0	461					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGCTCCCAGACCGAGATGGCT	0.602																																						ENST00000586223.1																			0																																																			440419							g.chr17:25748074C>G			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25748074C>G								NR_033892.1						0	461	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.602	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		3	7	0	0	0	0.115264	0	3	7				
SLCO6A1	133482	broad.mit.edu	37	5	101795457	101795457	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:101795457T>C	ENST00000506729.1	-	5	1095	c.924A>G	c.(922-924)ccA>ccG	p.P308P	SLCO6A1_ENST00000379807.3_Silent_p.P308P|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.P246P|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAGCCATTCTGGACTACCAT	0.353																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(922-924)ccA>ccG		solute carrier organic anion transporter family, member 6A1							87.0	80.0	82.0					5																	101795457		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101795457T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.924A>G	5.37:g.101795457T>C						SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.P308P|SLCO6A1_ENST00000389019.3_Silent_p.P246P	p.P308P			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1095	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	308					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.924A>G	CCDS34206.1																																																																																				0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		42	93	0	0	0	0.834066	0	42	93				
DZIP1	22873	broad.mit.edu	37	13	96242634	96242634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:96242634C>T	ENST00000376829.2	-	17	2593	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	DZIP1_ENST00000347108.3_Missense_Mutation_p.R581K|DZIP1_ENST00000361396.2_Missense_Mutation_p.R562K|DZIP1_ENST00000361156.3_Missense_Mutation_p.R562K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	581					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTGCTTATGTCTTTCTGATTC	0.368																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1741-1743)aGa>aAa		DAZ interacting zinc finger protein 1							203.0	181.0	188.0					13																	96242634		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96242634C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1742G>A	13.37:g.96242634C>T	ENSP00000366025:p.Arg581Lys					DZIP1_ENST00000361156.3_Missense_Mutation_p.R562K|DZIP1_ENST00000376829.2_Missense_Mutation_p.R581K|DZIP1_ENST00000361396.2_Missense_Mutation_p.R562K	p.R581K			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		15	2174	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		581					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1742G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078473	0.36662	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.16073	2.37;2.43;2.43;2.37	5.66	5.66	0.87406	.	0.050625	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.45662	D	0.998584	P;P	0.39883	0.677;0.693	B;B	0.30029	0.11;0.051	T	0.04268	-1.0964	10	0.87932	D	0	-23.9069	16.6566	0.85230	0.0:1.0:0.0:0.0	.	562;581	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	K	581;562;562;581	ENSP00000257312:R581K;ENSP00000355018:R562K;ENSP00000355175:R562K;ENSP00000366025:R581K	ENSP00000257312:R581K	R	-	2	0	DZIP1	95040635	1.000000	0.71417	0.897000	0.35233	0.014000	0.08584	4.413000	0.59795	2.665000	0.90641	0.561000	0.74099	AGA		0.368	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		50	105	0	0	0	0.870114	0	50	105				
CCDC186	55088	broad.mit.edu	37	10	115895718	115895718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:115895718T>A	ENST00000369287.3	-	9	1710	c.1444A>T	c.(1444-1446)Aag>Tag	p.K482*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.K80*	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		482										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTAGTTCCTTTATTTTGGCA	0.333																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(1444-1446)Aag>Tag		chromosome 10 open reading frame 118							159.0	146.0	150.0					10																	115895718		2203	4300	6503	SO:0001587	stop_gained	55088							g.chr10:115895718T>A																												ENST00000369287.3:c.1444A>T	10.37:g.115895718T>A	ENSP00000358293:p.Lys482*					C10orf118_ENST00000543782.1_Nonsense_Mutation_p.K80*	p.K482*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	9	1710	-		Colorectal(252;0.172)|Breast(234;0.188)	482					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Nonsense_Mutation	SNP	ENST00000369287.3	37	c.1444A>T	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	41|41	9.030064|9.030064	0.99042|0.99042	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.38054|.	0.1026|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35001|.	-0.9806|.	4|.	.|0.02654	.|T	.|1	.|.	15.6495|15.6495	0.77081|0.77081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	110|482;80;588	.|.	.|ENSP00000358293:K482X	K|K	-|-	2|1	0|0	C10orf118|C10orf118	115885708|115885708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.567000|7.567000	0.82357|0.82357	2.098000|2.098000	0.63641|0.63641	0.449000|0.449000	0.29647|0.29647	AAA|AAG		0.333	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			45	101	0	0	0	0.864702	0	45	101				
CDK12	51755	broad.mit.edu	37	17	37673803	37673803	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:37673803T>C	ENST00000447079.4	+	10	2990	c.2957T>C	c.(2956-2958)tTc>tCc	p.F986S	CDK12_ENST00000430627.2_Missense_Mutation_p.F986S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	986	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGAGAAGAATTCTCTTTGTGA	0.468			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2956-2958)tTc>tCc		cyclin-dependent kinase 12							114.0	102.0	106.0					17																	37673803		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37673803T>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2957T>C	17.37:g.37673803T>C	ENSP00000398880:p.Phe986Ser	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.F986S	p.F986S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			10	2990	+			986			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2957T>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022567	0.75275	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.44482	0.92;0.92	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000338	T	0.63248	0.2495	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.67337	-0.5696	10	0.87932	D	0	-7.5804	15.3521	0.74396	0.0:0.0:0.0:1.0	.	985;986;986	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	S	986	ENSP00000407720:F986S;ENSP00000398880:F986S	ENSP00000407720:F986S	F	+	2	0	CDK12	34927329	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.975000	0.88055	2.081000	0.62600	0.460000	0.39030	TTC		0.468	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		10	75	0	0	0	0.335167	0	10	75				
RBBP6	5930	broad.mit.edu	37	16	24580864	24580864	+	Silent	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:24580864A>T	ENST00000319715.4	+	17	3285	c.2853A>T	c.(2851-2853)ccA>ccT	p.P951P	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.P917P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	951					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCTGAACCCAGAGTTATTAG	0.398																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(2851-2853)ccA>ccT		retinoblastoma binding protein 6							52.0	56.0	54.0					16																	24580864		2168	4282	6450	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580864A>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2853A>T	16.37:g.24580864A>T						RBBP6_ENST00000348022.2_Silent_p.P917P|RBBP6_ENST00000381039.3_Intron	p.P951P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3285	+			951					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.2853A>T	CCDS10621.1																																																																																				0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		13	48	0	0	0	0.411799	0	13	48				
UCK1	83549	broad.mit.edu	37	9	134404388	134404388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:134404388C>G	ENST00000372215.4	-	5	639	c.546G>C	c.(544-546)caG>caC	p.Q182H	UCK1_ENST00000372211.3_Missense_Mutation_p.Q187H|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.Q173H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	182					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCGTCAGAATCTGCTCCAGGT	0.642																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(544-546)caG>caC		uridine-cytidine kinase 1							93.0	68.0	76.0					9																	134404388		2202	4300	6502	SO:0001583	missense	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404388C>G	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.546G>C	9.37:g.134404388C>G	ENSP00000361289:p.Gln182His					UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.Q173H|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Missense_Mutation_p.Q187H	p.Q182H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	5	639	-			182					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	c.546G>C	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511870	0.44660	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	4.63	4.63	0.57726	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.48362	1.52	0.80722	D	1	B;B	0.23316	0.083;0.083	B;B	0.22152	0.038;0.022	T	0.57201	-0.7852	9	0.45353	T	0.12	-40.3997	16.4812	0.84158	0.0:1.0:0.0:0.0	.	173;182	Q5JT10;Q9HA47	.;UCK1_HUMAN	H	182;187;173	.	ENSP00000361284:Q173H	Q	-	3	2	UCK1	133394209	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.921000	0.63397	2.134000	0.65973	0.655000	0.94253	CAG		0.642	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		11	20	0	0	0	0.411799	0	11	20				
CDC42EP4	23580	broad.mit.edu	37	17	71282368	71282368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:71282368G>A	ENST00000335793.3	-	2	666	c.272C>T	c.(271-273)tCg>tTg	p.S91L	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	91					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTGGTCACCGACTGTGACCG	0.632																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(271-273)tCg>tTg		CDC42 effector protein (Rho GTPase binding) 4							46.0	46.0	46.0					17																	71282368		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282368G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.272C>T	17.37:g.71282368G>A	ENSP00000338258:p.Ser91Leu					CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron	p.S91L			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	666	-			91					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.272C>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750868	0.89753	.	.	ENSG00000179604	ENST00000335793	T	0.34667	1.35	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.48293	-0.9048	10	0.27785	T	0.31	-9.9083	17.4773	0.87662	0.0:0.0:1.0:0.0	.	91	Q9H3Q1	BORG4_HUMAN	L	91	ENSP00000338258:S91L	ENSP00000338258:S91L	S	-	2	0	CDC42EP4	68793963	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.922000	0.87538	2.226000	0.72624	0.484000	0.47621	TCG		0.632	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		23	57	0	0	0	0.624587	0	23	57				
OR8J1	219477	broad.mit.edu	37	11	56128342	56128342	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:56128342T>C	ENST00000303039.3	+	1	652	c.620T>C	c.(619-621)gTg>gCg	p.V207A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAACAAATGTGGTTGGTTCC	0.308																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(619-621)gTg>gCg		olfactory receptor, family 8, subfamily J, member 1							169.0	157.0	161.0					11																	56128342		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128342T>C	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.620T>C	11.37:g.56128342T>C	ENSP00000304060:p.Val207Ala						p.V207A	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	652	+	Esophageal squamous(21;0.00448)		207					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.620T>C	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	T	8.857	0.945903	0.18356	.	.	ENSG00000172487	ENST00000303039	T	0.38077	1.16	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.272276	0.24801	N	0.035493	T	0.21590	0.0520	N	0.05158	-0.105	0.09310	N	1	B	0.18968	0.032	B	0.29353	0.101	T	0.25187	-1.0139	10	0.44086	T	0.13	.	12.8502	0.57852	0.0:0.0:0.0:1.0	.	207	Q8NGP2	OR8J1_HUMAN	A	207	ENSP00000304060:V207A	ENSP00000304060:V207A	V	+	2	0	OR8J1	55884918	0.000000	0.05858	0.100000	0.21137	0.080000	0.17528	0.365000	0.20348	1.772000	0.52199	0.448000	0.29417	GTG		0.308	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		37	118	0	0	0	0.796494	0	37	118				
XKR7	343702	broad.mit.edu	37	20	30584546	30584546	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:30584546G>T	ENST00000562532.2	+	3	1200	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	342						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACCTTCTGGGTCATCCAAG	0.562																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1024-1026)tgG>tgT		XK, Kell blood group complex subunit-related family, member 7							84.0	71.0	75.0					20																	30584546		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584546G>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1026G>T	20.37:g.30584546G>T	ENSP00000477059:p.Trp342Cys						p.W342C	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1200	+			342					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1026G>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	g	19.03	3.748841	0.69533	.	.	ENSG00000101321	ENST00000217299	T	0.70164	-0.46	5.19	5.19	0.71726	.	0.060706	0.64402	D	0.000001	D	0.83977	0.5371	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86778	0.1977	10	0.87932	D	0	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	342	Q5GH72	XKR7_HUMAN	C	342	ENSP00000217299:W342C	ENSP00000217299:W342C	W	+	3	0	XKR7	30048207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.427000	0.82271	0.556000	0.70494	TGG		0.562	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		7	68	1	0	8.12818e-05	0.248553	8.71275e-05	7	68				
IFT80	57560	broad.mit.edu	37	3	160095273	160095273	+	Silent	SNP	G	G	A	rs137853115		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:160095273G>A	ENST00000326448.7	-	4	747	c.315C>T	c.(313-315)caC>caT	p.H105H	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	105			H -> Q (in SRTD2). {ECO:0000269|PubMed:17468754}.		bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTCCACAGTGAGCTTCTA	0.303																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36	GRCh37	CM074277	IFT80	M	rs137853115	c.(313-315)caC>caT		intraflagellar transport 80 homolog (Chlamydomonas)							110.0	105.0	107.0					3																	160095273		2203	4299	6502	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160095273G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.315C>T	3.37:g.160095273G>A						IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR	p.H105H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	747	-			105		H -> Q (in ATD2).			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.315C>T	CCDS3188.1																																																																																				0.303	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		81	166	0	0	0	0.870114	0	81	166				
KIF4A	24137	broad.mit.edu	37	X	69563610	69563610	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:69563610G>T	ENST00000374403.3	+	12	1406	c.1324G>T	c.(1324-1326)Gcc>Tcc	p.A442S	KIF4A_ENST00000374388.3_Splice_Site_p.A442S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	442					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGCATGCGGCGTAAGTTGC	0.468																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.e12+1		kinesin family member 4A							68.0	53.0	58.0					X																	69563610		2203	4300	6503	SO:0001630	splice_region_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69563610G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1325+1G>T	X.37:g.69563610G>T						KIF4A_ENST00000374388.3_Splice_Site_p.A442_splice	p.A442_splice	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			12	1406	+			442					B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Splice_Site	SNP	ENST00000374403.3	37	c.1325_splice	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761986	0.89932	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.69040	-0.37;-0.37	5.12	5.12	0.69794	.	0.107189	0.41605	D	0.000855	T	0.70360	0.3215	L	0.51422	1.61	0.58432	D	0.999995	D;B	0.62365	0.991;0.046	P;B	0.55260	0.772;0.059	T	0.65429	-0.6170	10	0.14656	T	0.56	.	16.1175	0.81319	0.0:0.0:1.0:0.0	.	442;442	O95239;O95239-2	KIF4A_HUMAN;.	S	442	ENSP00000363509:A442S;ENSP00000363524:A442S	ENSP00000363509:A442S	A	+	1	0	KIF4A	69480335	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.788000	0.91834	2.369000	0.80426	0.600000	0.82982	GCC		0.468	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	Missense_Mutation	15	21	1	0	4.14922e-12	0.500413	5.03374e-12	15	21				
THAP5	168451	broad.mit.edu	37	7	108205353	108205353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:108205353C>T	ENST00000415914.3	-	3	623	c.470G>A	c.(469-471)gGa>gAa	p.G157E	THAP5_ENST00000313516.5_Missense_Mutation_p.G115E|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	157					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTGTATACTTCCTGTTTTGGG	0.358																																						ENST00000415914.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(469-471)gGa>gAa		THAP domain containing 5							53.0	49.0	50.0					7																	108205353		2185	4283	6468	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108205353C>T	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.470G>A	7.37:g.108205353C>T	ENSP00000400500:p.Gly157Glu					THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.G115E	p.G157E	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN			3	623	-			157						Missense_Mutation	SNP	ENST00000415914.3	37	c.470G>A	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.499356	0.00157	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96041	-3.89;-2.37	4.6	-2.59	0.06209	.	.	.	.	.	T	0.82157	0.4976	N	0.01352	-0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.72947	-0.4137	8	.	.	.	.	9.0507	0.36374	0.0:0.6391:0.126:0.2349	.	157	Q7Z6K1	THAP5_HUMAN	E	157;115	ENSP00000400500:G157E;ENSP00000322440:G115E	.	G	-	2	0	THAP5	107992589	0.002000	0.14202	0.042000	0.18584	0.079000	0.17450	-0.010000	0.12743	-0.409000	0.07553	0.650000	0.86243	GGA		0.358	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		7	25	0	0	0	0.335167	0	7	25				
PKHD1L1	93035	broad.mit.edu	37	8	110412536	110412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:110412536C>A	ENST00000378402.5	+	13	1348	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	415					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCGTTATGCTATTTATTTT	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1243-1245)gCt>gAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							169.0	159.0	162.0					8																	110412536		1850	4091	5941	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412536C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1244C>A	8.37:g.110412536C>A	ENSP00000367655:p.Ala415Asp	HNSCC(38;0.096)					p.A415D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1348	+			415					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1244C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282841	0.40394	.	.	ENSG00000205038	ENST00000378402	T	0.77229	-1.08	5.42	5.42	0.78866	PA14 (1);	0.171393	0.38837	N	0.001542	T	0.72771	0.3502	L	0.44542	1.39	0.25271	N	0.989517	P	0.49307	0.922	P	0.46718	0.525	T	0.66212	-0.5980	10	0.30854	T	0.27	.	10.1968	0.43060	0.0:0.9096:0.0:0.0904	.	415	Q86WI1	PKHL1_HUMAN	D	415	ENSP00000367655:A415D	ENSP00000367655:A415D	A	+	2	0	PKHD1L1	110481712	0.990000	0.36364	1.000000	0.80357	0.954000	0.61252	2.990000	0.49401	2.538000	0.85594	0.563000	0.77884	GCT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		16	263	1	0	2.32078e-09	0.479597	2.71047e-09	16	263				
IGSF1	3547	broad.mit.edu	37	X	130416470	130416470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:130416470C>T	ENST00000361420.3	-	7	1273	c.1194G>A	c.(1192-1194)tgG>tgA	p.W398*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W389*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.W389*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	398	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGGTCTTCCAGGTGAGAA	0.408																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1165-1167)tgG>tgA		immunoglobulin superfamily, member 1							135.0	107.0	117.0					X																	130416470		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416470C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1194G>A	X.37:g.130416470C>T	ENSP00000355010:p.Trp398*					IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W389*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W398*	p.W389*			Q8N6C5	IGSF1_HUMAN			13	2077	-			398			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.1167G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	45	11.604190	0.99581	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.15	3.27	0.37495	.	0.415201	0.19114	N	0.122366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.1711	0.31256	0.2382:0.7618:0.0:0.0	.	.	.	.	X	389;398;389;398	.	ENSP00000355010:W398X	W	-	3	0	IGSF1	130244151	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.198000	0.32223	1.074000	0.40909	0.594000	0.82650	TGG		0.408	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	40	0	0	0	0.870114	0	41	40				
TRAPPC11	60684	broad.mit.edu	37	4	184633772	184633772	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:184633772A>G	ENST00000334690.6	+	30	3579	c.3377A>G	c.(3376-3378)gAt>gGt	p.D1126G	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D732G|TRAPPC11_ENST00000357207.4_Silent_p.G1086G	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1126					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CGACTCATGGATGATACCTCT	0.393																																						ENST00000334690.6																			0											c.(3376-3378)gAt>gGt		trafficking protein particle complex 11							156.0	156.0	156.0					4																	184633772		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184633772A>G		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3377A>G	4.37:g.184633772A>G	ENSP00000335371:p.Asp1126Gly					TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D732G|TRAPPC11_ENST00000357207.4_Silent_p.G1086G	p.D1126G	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			30	3579	+			1126					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.3377A>G	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112986	0.77210	.	.	ENSG00000168538	ENST00000334690;ENST00000512476	.	.	.	4.99	4.99	0.66335	.	0.124092	0.52532	D	0.000073	T	0.55194	0.1905	.	.	.	0.80722	D	1	B;B	0.28082	0.2;0.048	B;B	0.33295	0.161;0.054	T	0.53606	-0.8415	8	0.33141	T	0.24	.	13.4416	0.61117	1.0:0.0:0.0:0.0	.	732;1126	D6RHE5;Q7Z392	.;TPC11_HUMAN	G	1126;732	.	ENSP00000335371:D1126G	D	+	2	0	C4orf41	184870766	1.000000	0.71417	0.910000	0.35882	0.934000	0.57294	7.366000	0.79548	2.088000	0.63022	0.533000	0.62120	GAT		0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		26	253	0	0	0	0.706142	0	26	253				
EMC8	10328	broad.mit.edu	37	16	85822627	85822627	+	Silent	SNP	G	G	A	rs146555773		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:85822627G>A	ENST00000253457.3	-	2	505	c.261C>T	c.(259-261)taC>taT	p.Y87Y	EMC8_ENST00000435200.2_Silent_p.Y87Y|RP11-568J23.5_ENST00000602706.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	87						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAGCAATCACGTAGCTATGAT	0.438																																						ENST00000253457.3																			0											c.(259-261)taC>taT		ER membrane protein complex subunit 8		G	,	0,4396		0,0,2198	190.0	150.0	163.0		261,261	0.7	1.0	16	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	COX4NB	NM_001142288.1,NM_006067.4	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	87/127,87/211	85822627	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	10328							g.chr16:85822627G>A	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.261C>T	16.37:g.85822627G>A						EMC8_ENST00000435200.2_Silent_p.Y87Y	p.Y87Y	NM_006067.4	NP_006058.1					2	505	-								C9JB21	Silent	SNP	ENST00000253457.3	37	c.261C>T	CCDS10954.1																																																																																				0.438	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		11	149	0	0	0	0.457914	0	11	149				
ARHGAP31	57514	broad.mit.edu	37	3	119135065	119135065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:119135065G>A	ENST00000264245.4	+	12	4821	c.4289G>A	c.(4288-4290)cGg>cAg	p.R1430Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1430					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGCCTCAGCGGAGATCAGTA	0.448																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(4288-4290)cGg>cAg		Rho GTPase activating protein 31							57.0	53.0	54.0					3																	119135065		1876	4112	5988	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119135065G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.4289G>A	3.37:g.119135065G>A	ENSP00000264245:p.Arg1430Gln						p.R1430Q	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4821	+			1430					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.4289G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969992	0.92855	.	.	ENSG00000031081	ENST00000264245	T	0.55760	0.5	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000046	T	0.66528	0.2798	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67201	-0.5730	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	1430	Q2M1Z3	RHG31_HUMAN	Q	1430	ENSP00000264245:R1430Q	ENSP00000264245:R1430Q	R	+	2	0	ARHGAP31	120617755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CGG		0.448	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			9	107	0	0	0	0.335167	0	9	107				
CECR5	27440	broad.mit.edu	37	22	17619593	17619593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:17619593G>A	ENST00000336737.4	-	7	807	c.782C>T	c.(781-783)aCc>aTc	p.T261I	CECR5_ENST00000155674.5_Missense_Mutation_p.T231I|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	261						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGGTAAATGGTTTCCAGGCA	0.542																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(781-783)aCc>aTc		cat eye syndrome chromosome region, candidate 5							169.0	158.0	162.0					22																	17619593		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619593G>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.782C>T	22.37:g.17619593G>A	ENSP00000337358:p.Thr261Ile					CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.T231I	p.T261I	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	807	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	261					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.782C>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542372	0.45280	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.20069	2.1;2.1	4.73	3.66	0.41972	HAD-like domain (1);	0.428566	0.28583	N	0.014824	T	0.31104	0.0786	M	0.70595	2.14	0.80722	D	1	B;P;P	0.47034	0.257;0.823;0.889	B;B;P	0.50314	0.246;0.359;0.637	T	0.02713	-1.1120	10	0.51188	T	0.08	-10.5127	8.8787	0.35360	0.0:0.2214:0.5708:0.2077	.	231;261;125	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	I	231;261	ENSP00000155674:T231I;ENSP00000337358:T261I	ENSP00000155674:T231I	T	-	2	0	CECR5	15999593	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	1.106000	0.31098	2.451000	0.82905	0.549000	0.68633	ACC		0.542	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		77	218	0	0	0	0.870114	0	77	218				
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1072-1074)Gcc>Acc		CLPTM1-like							81.0	72.0	75.0					5																	1330403		2202	4298	6500	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1330403C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1072G>A	5.37:g.1330403C>T	ENSP00000313854:p.Ala358Thr					CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	p.A358T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	9	1329	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		358					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1072G>A	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219203	0.22373	.	.	ENSG00000049656	ENST00000320895	T	0.44083	0.93	4.84	3.96	0.45880	.	0.395244	0.28398	N	0.015481	T	0.32496	0.0831	L	0.38175	1.15	0.80722	D	1	B	0.21688	0.059	B	0.24269	0.052	T	0.25328	-1.0135	10	0.72032	D	0.01	-35.5471	9.132	0.36850	0.0:0.8255:0.0:0.1745	.	358	Q96KA5	CLP1L_HUMAN	T	358	ENSP00000313854:A358T	ENSP00000313854:A358T	A	-	1	0	CLPTM1L	1383403	0.603000	0.26924	0.801000	0.32222	0.004000	0.04260	1.059000	0.30517	2.213000	0.71641	0.655000	0.94253	GCC		0.622	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		56	71	0	0	0	0.870114	0	56	71				
ABCA13	154664	broad.mit.edu	37	7	48390265	48390265	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:48390265C>A	ENST00000435803.1	+	30	10254	c.10230C>A	c.(10228-10230)aaC>aaA	p.N3410K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3410					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATGTTTAACCATGCAGGCG	0.512																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10228-10230)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 13							149.0	151.0	150.0					7																	48390265		2042	4207	6249	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390265C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10230C>A	7.37:g.48390265C>A	ENSP00000411096:p.Asn3410Lys						p.N3410K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10254	+			3410					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10230C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660529	0.47572	.	.	ENSG00000179869	ENST00000435803	D	0.85556	-2.0	4.65	2.43	0.29744	.	0.414083	0.20065	N	0.099998	D	0.90741	0.7094	M	0.85197	2.74	0.09310	N	1	D;D	0.63880	0.993;0.993	P;D	0.63113	0.892;0.911	T	0.82426	-0.0463	10	0.72032	D	0.01	.	9.3392	0.38069	0.0:0.7942:0.0:0.2058	.	1112;3410	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	K	3410	ENSP00000411096:N3410K	ENSP00000411096:N3410K	N	+	3	2	ABCA13	48360811	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.067000	0.14510	0.926000	0.37118	0.650000	0.86243	AAC		0.512	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		47	217	1	0	6.08268e-21	0.870114	7.86727e-21	47	217				
IGF1R	3480	broad.mit.edu	37	15	99467897	99467897	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:99467897C>T	ENST00000268035.6	+	13	3377	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	IGF1R_ENST00000558762.1_Silent_p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGTGTTCTTCTATGTCCAGG	0.547																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2764-2766)ttC>ttT		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						109.0	92.0	98.0					15																	99467897		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467897C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2766C>T	15.37:g.99467897C>T						IGF1R_ENST00000558762.1_Silent_p.F922F	p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3377	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		922			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.2766C>T	CCDS10378.1																																																																																				0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		18	98	0	0	0	0.608945	0	18	98				
IFNA16	3449	broad.mit.edu	37	9	21216750	21216750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:21216750T>A	ENST00000380216.1	-	1	560	c.555A>T	c.(553-555)ttA>ttT	p.L185F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	185					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTCCTTCTTAATCCTTTTT	0.373																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(553-555)ttA>ttT		interferon, alpha 16							167.0	159.0	162.0					9																	21216750		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216750T>A		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.555A>T	9.37:g.21216750T>A	ENSP00000369564:p.Leu185Phe						p.L185F	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	560	-			185					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.555A>T	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	11.48	1.651402	0.29336	.	.	ENSG00000147885	ENST00000380216	T	0.04809	3.55	2.62	-4.89	0.03103	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.421595	0.20137	N	0.098466	T	0.08179	0.0204	M	0.62209	1.925	0.09310	N	1	P	0.42941	0.794	P	0.54460	0.753	T	0.06789	-1.0807	10	0.49607	T	0.09	.	2.3109	0.04186	0.153:0.1252:0.4794:0.2424	.	185	P05015	IFN16_HUMAN	F	185	ENSP00000369564:L185F	ENSP00000369564:L185F	L	-	3	2	IFNA16	21206750	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.378000	0.07446	-1.163000	0.02793	0.155000	0.16302	TTA		0.373	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		99	253	0	0	0	0.870114	0	99	253				
ADRBK1	156	broad.mit.edu	37	11	67047163	67047163	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67047163C>A	ENST00000308595.5	+	5	723	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.L145I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	145	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCTCCGGATCTCTTCCAGGT	0.632																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(433-435)Ctc>Atc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						58.0	60.0	59.0					11																	67047163		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67047163C>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.433C>A	11.37:g.67047163C>A	ENSP00000312262:p.Leu145Ile					ADRBK1_ENST00000526285.1_Missense_Mutation_p.L145I	p.L145I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		5	723	+			145			N-terminal.|RGS.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.433C>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003601	0.74932	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.02280	4.36;4.36	5.38	5.38	0.77491	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.51477	D	0.000087	T	0.07234	0.0183	L	0.60455	1.87	0.80722	D	1	B;B	0.31680	0.144;0.335	B;P	0.48114	0.279;0.567	T	0.20405	-1.0276	10	0.44086	T	0.13	-16.3923	12.0875	0.53706	0.0:0.9207:0.0:0.0793	.	145;145	P25098;E9PRV7	ARBK1_HUMAN;.	I	145	ENSP00000312262:L145I;ENSP00000434126:L145I	ENSP00000312262:L145I	L	+	1	0	ADRBK1	66803739	0.999000	0.42202	0.996000	0.52242	0.742000	0.42306	4.033000	0.57282	2.688000	0.91661	0.655000	0.94253	CTC		0.632	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		26	97	1	0	7.92952e-12	0.667858	9.58278e-12	26	97				
WRN	7486	broad.mit.edu	37	8	30949360	30949360	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:30949360C>T	ENST00000298139.5	+	16	2093	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	615	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCCAACATCCCAGCTTGCTTC	0.323			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1843-1845)cCa>cTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							141.0	136.0	137.0					8																	30949360		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30949360C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1844C>T	8.37:g.30949360C>T	ENSP00000298139:p.Pro615Leu						p.P615L	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	16	2093	+		Breast(100;0.195)	615			Helicase ATP-binding.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1844C>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114968	0.56505	.	.	ENSG00000165392	ENST00000298139	T	0.14640	2.49	5.51	4.55	0.56014	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.256339	0.37304	N	0.002143	T	0.28366	0.0701	M	0.74647	2.275	0.44946	D	0.997966	P;P	0.45634	0.775;0.863	P;P	0.49301	0.579;0.606	T	0.04708	-1.0932	10	0.87932	D	0	-7.2888	16.135	0.81476	0.1901:0.8099:0.0:0.0	.	25;615	Q59F09;Q14191	.;WRN_HUMAN	L	615	ENSP00000298139:P615L	ENSP00000298139:P615L	P	+	2	0	WRN	31068902	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.207000	0.42788	2.583000	0.87209	0.655000	0.94253	CCA		0.323	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			15	104	0	0	0	0.500413	0	15	104				
CACNA1C	775	broad.mit.edu	37	12	2705075	2705075	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:2705075C>T	ENST00000347598.4	+	20	2699	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	CACNA1C_ENST00000399621.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T925M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T900M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T900M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T900M(3)|p.T930M(1)|p.T435M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCAATGACACGATCTTCACC	0.562																																						ENST00000399655.1																			5	Substitution - Missense(5)	p.T900M(3)|p.T930M(1)|p.T435M(1)	breast(5)	NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(2698-2700)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						126.0	127.0	127.0					12																	2705075		2103	4220	6323	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2705075C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2699C>T	12.37:g.2705075C>T	ENSP00000266376:p.Thr900Met					CACNA1C_ENST00000399621.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T900M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T925M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T900M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T900M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T900M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T900M	p.T900M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	20	2964	+			900					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2699C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532729	0.64972	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.88;-3.88;-3.91;-3.87;-3.87;-3.88;-3.9;-3.79;-3.83;-3.88;-3.78;-3.78;-3.88;-3.93;-3.79;-3.72;-3.94;-3.89;-3.88;-3.91;-3.82;-3.91;-3.94	4.8	3.84	0.44239	.	0.208129	0.49305	D	0.000151	D	0.96476	0.8850	M	0.73962	2.25	0.33482	D	0.587614	D;D;D;D;D;D;D;P;D;P;D;P;D;D;P;D;D;P;D;P;P;D;D;D;P;D	0.76494	0.997;0.983;0.98;0.99;0.986;0.986;0.983;0.947;0.97;0.813;0.986;0.954;0.987;0.99;0.923;0.958;0.999;0.95;0.986;0.95;0.954;0.986;0.97;0.983;0.89;0.964	P;P;P;P;P;P;P;P;P;P;P;P;P;P;B;P;P;P;P;P;P;P;P;P;B;P	0.62382	0.901;0.642;0.508;0.572;0.785;0.785;0.642;0.782;0.498;0.493;0.785;0.454;0.703;0.828;0.266;0.677;0.862;0.594;0.785;0.594;0.454;0.785;0.642;0.721;0.337;0.536	D	0.97014	0.9738	10	0.51188	T	0.08	.	10.4253	0.44373	0.3894:0.6106:0.0:0.0	.	900;897;900;900;900;900;900;900;900;900;900;900;871;900;900;900;900;900;900;900;900;900;900;900;900;900	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	925;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;900;741	ENSP00000336982:T925M;ENSP00000382563:T900M;ENSP00000437936:T900M;ENSP00000382552:T900M;ENSP00000382547:T900M;ENSP00000382506:T900M;ENSP00000382530:T900M;ENSP00000382546:T900M;ENSP00000382500:T900M;ENSP00000382549:T900M;ENSP00000266376:T900M;ENSP00000382515:T900M;ENSP00000382510:T900M;ENSP00000341092:T900M;ENSP00000382537:T900M;ENSP00000329877:T900M;ENSP00000382557:T900M;ENSP00000385724:T900M;ENSP00000382512:T900M;ENSP00000382542:T900M;ENSP00000382526:T900M;ENSP00000385896:T900M;ENSP00000382504:T900M	ENSP00000323129:T741M	T	+	2	0	CACNA1C	2575336	0.994000	0.37717	0.963000	0.40424	0.850000	0.48378	3.633000	0.54295	2.501000	0.84356	0.462000	0.41574	ACG		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		21	78	0	0	0	0.639603	0	21	78				
JARID2	3720	broad.mit.edu	37	6	15512521	15512521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:15512521C>T	ENST00000341776.2	+	14	3279	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	JARID2_ENST00000397311.3_Missense_Mutation_p.P840L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1012	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCTGCTTCCCGGGATCCTTT	0.582																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3034-3036)cCg>cTg		jumonji, AT rich interactive domain 2							205.0	162.0	177.0					6																	15512521		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15512521C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3035C>T	6.37:g.15512521C>T	ENSP00000341280:p.Pro1012Leu					JARID2_ENST00000397311.3_Missense_Mutation_p.P840L	p.P1012L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			14	3279	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1012			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.3035C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160167	0.94727	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.78364	-1.17;-1.17	5.01	5.01	0.66863	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92802	0.6257	10	0.87932	D	0	-13.1491	18.679	0.91540	0.0:1.0:0.0:0.0	.	1012	Q92833	JARD2_HUMAN	L	1012;840	ENSP00000341280:P1012L;ENSP00000380478:P840L	ENSP00000341280:P1012L	P	+	2	0	JARID2	15620500	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.763000	0.85283	2.472000	0.83506	0.603000	0.83216	CCG		0.582	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		6	133	0	0	0	0.278610	0	6	133				
GAL3ST4	79690	broad.mit.edu	37	7	99764268	99764268	+	Missense_Mutation	SNP	G	G	A	rs377137531		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:99764268G>A	ENST00000360039.4	-	3	678	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R96C|GAL3ST4_ENST00000411994.1_Intron|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000423751.1_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	96					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGCGAAGCGCAGCCCGTGC	0.637																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(286-288)Cgc>Tgc		galactose-3-O-sulfotransferase 4		G	CYS/ARG	0,4406		0,0,2203	83.0	89.0	87.0		286	4.2	1.0	7		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	GAL3ST4	NM_024637.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	96/487	99764268	1,13005	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764268G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.286C>T	7.37:g.99764268G>A	ENSP00000353142:p.Arg96Cys					GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R96C|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000411994.1_Intron	p.R96C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			3	678	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.286C>T	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585256	0.66105	0.0	1.16E-4	ENSG00000197093	ENST00000413800;ENST00000360039	D;D	0.99748	-6.62;-6.62	5.11	4.22	0.49857	.	0.343345	0.23286	U	0.049848	D	0.98848	0.9611	M	0.65498	2.005	0.80722	D	1	D	0.58970	0.984	P	0.45232	0.474	D	0.97492	1.0054	10	0.56958	D	0.05	-5.3433	5.7645	0.18219	0.0971:0.0:0.7089:0.1939	.	96	Q96RP7	G3ST4_HUMAN	C	96	ENSP00000400451:R96C;ENSP00000353142:R96C	ENSP00000353142:R96C	R	-	1	0	GAL3ST4	99602204	0.001000	0.12720	1.000000	0.80357	0.882000	0.50991	0.668000	0.25127	2.394000	0.81467	0.455000	0.32223	CGC		0.637	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		27	196	0	0	0	0.706142	0	27	196				
DPPA2	151871	broad.mit.edu	37	3	109028054	109028054	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:109028054T>C	ENST00000478945.1	-	4	551	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	102	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGACACCAGTCCCGCAAAGT	0.443																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(304-306)gAc>gGc		developmental pluripotency associated 2							202.0	207.0	205.0					3																	109028054		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028054T>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.305A>G	3.37:g.109028054T>C	ENSP00000417710:p.Asp102Gly						p.D102G	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	551	-			102			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.305A>G	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	1.523	-0.546457	0.04024	.	.	ENSG00000163530	ENST00000478945	T	0.42131	0.98	4.48	1.83	0.25207	DNA-binding SAP (2);	1.171550	0.06118	N	0.668382	T	0.23649	0.0572	N	0.08118	0	0.22468	N	0.999075	B	0.15473	0.013	B	0.09377	0.004	T	0.19095	-1.0316	10	0.27082	T	0.32	-0.4286	8.1766	0.31285	0.0:0.0:0.4063:0.5937	.	102	Q7Z7J5	DPPA2_HUMAN	G	102	ENSP00000417710:D102G	ENSP00000417710:D102G	D	-	2	0	DPPA2	110510744	0.000000	0.05858	0.870000	0.34147	0.032000	0.12392	-0.425000	0.07017	0.827000	0.34685	0.459000	0.35465	GAC		0.443	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		13	529	0	0	0	0.520397	0	13	529				
MEP1A	4224	broad.mit.edu	37	6	46806851	46806851	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:46806851T>C	ENST00000230588.4	+	14	2228	c.2219T>C	c.(2218-2220)cTt>cCt	p.L740P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	740					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCGCCATCCTTTCCCAAAGG	0.587																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2218-2220)cTt>cCt		meprin A, alpha (PABA peptide hydrolase)							79.0	63.0	69.0					6																	46806851		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806851T>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2219T>C	6.37:g.46806851T>C	ENSP00000230588:p.Leu740Pro						p.L740P	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2228	+			740					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.2219T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	8.888	0.953365	0.18431	.	.	ENSG00000112818	ENST00000230588	T	0.27890	1.64	5.8	0.393	0.16294	.	0.788449	0.12428	N	0.469796	T	0.08935	0.0221	L	0.38175	1.15	0.20074	N	0.999933	P;P	0.43287	0.802;0.694	B;B	0.41860	0.368;0.26	T	0.13737	-1.0498	10	0.48119	T	0.1	-0.6203	2.9979	0.06004	0.1342:0.0734:0.2798:0.5127	.	768;740	B7ZL91;Q16819	.;MEP1A_HUMAN	P	740	ENSP00000230588:L740P	ENSP00000230588:L740P	L	+	2	0	MEP1A	46914810	0.005000	0.15991	0.008000	0.14137	0.026000	0.11368	1.800000	0.38833	0.117000	0.18138	0.528000	0.53228	CTT		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		41	107	0	0	0	0.827153	0	41	107				
OR5D13	390142	broad.mit.edu	37	11	55541468	55541468	+	Silent	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541468A>T	ENST00000361760.1	+	1	555	c.555A>T	c.(553-555)gtA>gtT	p.V185V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACCACTCTGTAATTGTTTCTG	0.388																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(553-555)gtA>gtT		olfactory receptor, family 5, subfamily D, member 13							118.0	115.0	116.0					11																	55541468		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541468A>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.555A>T	11.37:g.55541468A>T							p.V185V	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	555	+		all_epithelial(135;0.196)	185					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.555A>T	CCDS31507.1																																																																																				0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		34	205	0	0	0	0.779181	0	34	205				
TMEM229B	161145	broad.mit.edu	37	14	67940192	67940192	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:67940192G>T	ENST00000557006.1	-	4	731	c.449C>A	c.(448-450)cCc>cAc	p.P150H	TMEM229B_ENST00000357461.2_Missense_Mutation_p.P150H			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	150						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGCTCCCCGGGCTCAGCGTC	0.657																																						ENST00000357461.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(448-450)cCc>cAc		transmembrane protein 229B							45.0	50.0	48.0					14																	67940192		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940192G>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.449C>A	14.37:g.67940192G>T	ENSP00000451774:p.Pro150His					TMEM229B_ENST00000557006.1_Missense_Mutation_p.P150H	p.P150H	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN			3	858	-			150						Missense_Mutation	SNP	ENST00000557006.1	37	c.449C>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455154	0.63401	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.186373	0.47093	D	0.000241	T	0.42765	0.1217	N	0.19112	0.55	0.43489	D	0.995729	D	0.58620	0.983	B	0.43783	0.431	T	0.53078	-0.8489	9	0.72032	D	0.01	-16.6038	16.9889	0.86348	0.0:0.0:1.0:0.0	.	150	Q8NBD8	T229B_HUMAN	H	150	.	ENSP00000350050:P150H	P	-	2	0	TMEM229B	67009945	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	5.604000	0.67626	2.001000	0.58596	0.555000	0.69702	CCC		0.657	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		15	81	1	0	2.32078e-09	0.479597	2.71047e-09	15	81				
OTUD7B	56957	broad.mit.edu	37	1	149915890	149915890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:149915890T>A	ENST00000369135.4	-	12	2692	c.2398A>T	c.(2398-2400)Acc>Tcc	p.T800S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	800					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TTGCATTTGGTCTGAGTTGGG	0.557																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2398-2400)Acc>Tcc		OTU domain containing 7B							131.0	131.0	131.0					1																	149915890		1919	4129	6048	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149915890T>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2398A>T	1.37:g.149915890T>A	ENSP00000358131:p.Thr800Ser						p.T800S	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2692	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		800					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2398A>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	4.757	0.140835	0.09083	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.27256	1.68	4.63	4.63	0.57726	Zinc finger, A20-type (1);	0.109916	0.64402	D	0.000011	T	0.06050	0.0157	N	0.12637	0.245	0.36174	D	0.848995	B	0.15141	0.012	B	0.14023	0.01	T	0.19418	-1.0306	9	.	.	.	-3.4547	13.3043	0.60342	0.0:0.0:0.0:1.0	.	800	Q6GQQ9	OTU7B_HUMAN	S	800	ENSP00000358131:T800S	.	T	-	1	0	OTUD7B	148182514	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.330000	0.65899	2.071000	0.62044	0.455000	0.32223	ACC		0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		68	205	0	0	0	0.870114	0	68	205				
PDK4	5166	broad.mit.edu	37	7	95222138	95222138	+	Missense_Mutation	SNP	G	G	A	rs572718482		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:95222138G>A	ENST00000005178.5	-	4	660	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	155	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AAATATTGAAGATTTTGATTG	0.383																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(463-465)Ctt>Ttt		pyruvate dehydrogenase kinase, isozyme 4							153.0	148.0	150.0					7																	95222138		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222138G>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.463C>T	7.37:g.95222138G>A	ENSP00000005178:p.Leu155Phe						p.L155F	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	660	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		155			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.463C>T	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739490	0.69304	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.35048	1.33	5.54	5.54	0.83059	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.113244	0.64402	D	0.000010	T	0.45776	0.1359	L	0.39898	1.24	0.46416	D	0.99903	P	0.48503	0.911	P	0.60286	0.872	T	0.38542	-0.9656	10	0.87932	D	0	.	9.9277	0.41503	0.0:0.1235:0.6883:0.1881	.	155	Q16654	PDK4_HUMAN	F	155;119	ENSP00000005178:L155F	ENSP00000005178:L155F	L	-	1	0	PDK4	95060074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.944000	0.29043	2.776000	0.95493	0.655000	0.94253	CTT		0.383	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		41	146	0	0	0	0.827153	0	41	146				
OTOGL	283310	broad.mit.edu	37	12	80658860	80658860	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:80658860C>G	ENST00000547103.1	+	19	2073	c.2067C>G	c.(2065-2067)taC>taG	p.Y689*	OTOGL_ENST00000458043.2_Nonsense_Mutation_p.Y689*			Q3ZCN5	OTOGL_HUMAN	otogelin-like	689					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGGGCTGTACTATCAGCTAT	0.537																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2065-2067)taC>taG		otogelin-like							153.0	155.0	154.0					12																	80658860		2054	4228	6282	SO:0001587	stop_gained	283310							g.chr12:80658860C>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2067C>G	12.37:g.80658860C>G	ENSP00000447211:p.Tyr689*					OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Y689*	p.Y689*	NM_173591.3	NP_775862.3					19	2073	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Nonsense_Mutation	SNP	ENST00000547103.1	37	c.2067C>G		.	.	.	.	.	.	.	.	.	.	C	36	5.743981	0.96873	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	.	.	.	6.08	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4	0.38426	0.0:0.6183:0.0:0.3817	.	.	.	.	X	689	.	ENSP00000400895:Y689X	Y	+	3	2	OTOGL	79182991	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	1.053000	0.30442	0.903000	0.36546	0.655000	0.94253	TAC		0.537	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		69	181	0	0	0	0.870114	0	69	181				
RPGRIP1L	23322	broad.mit.edu	37	16	53686756	53686756	+	Missense_Mutation	SNP	T	T	A	rs121918198		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53686756T>A	ENST00000379925.3	-	15	1893	c.1843A>T	c.(1843-1845)Acc>Tcc	p.T615S	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.T615S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	615	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		T -> P (in JBTS7; affects interaction with NPHP4; dbSNP:rs121918198). {ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:17558409}.		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAGAAAAGGTTACTTTGTTG	0.373																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46	GRCh37	CM073309	RPGRIP1L	M	rs121918198	c.(1843-1845)Acc>Tcc		RPGRIP1-like							71.0	69.0	70.0					16																	53686756		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686756T>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1843A>T	16.37:g.53686756T>A	ENSP00000369257:p.Thr615Ser					RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.T615S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.T615S	p.T615S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			15	1936	-		all_cancers(37;0.0973)	615		T -> P (in JBTS7; affects interaction with NPHP4).	C2 1.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.1843A>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138964	0.37728	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87809	-2.3;-2.3	5.45	3.15	0.36227	C2 calcium-dependent membrane targeting (1);	0.592798	0.18135	N	0.150613	T	0.73869	0.3642	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.11235	0.002;0.001;0.004;0.001	B;B;B;B	0.12156	0.007;0.007;0.007;0.004	T	0.59984	-0.7351	10	0.21540	T	0.41	-2.1547	8.2578	0.31766	0.0:0.2237:0.0:0.7763	.	615;615;615;615	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	615	ENSP00000369257:T615S;ENSP00000262135:T615S	ENSP00000262135:T615S	T	-	1	0	RPGRIP1L	52244257	0.925000	0.31364	0.999000	0.59377	0.992000	0.81027	0.220000	0.17660	0.336000	0.23639	0.460000	0.39030	ACC		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		10	116	0	0	0	0.335167	0	10	116				
CSMD1	64478	broad.mit.edu	37	8	3059159	3059159	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:3059159G>A	ENST00000520002.1	-	33	5631	c.5076C>T	c.(5074-5076)ctC>ctT	p.L1692L	CSMD1_ENST00000537824.1_Silent_p.L1691L|CSMD1_ENST00000539096.1_Silent_p.L1691L|CSMD1_ENST00000602557.1_Silent_p.L1692L|CSMD1_ENST00000400186.3_Silent_p.L1692L|CSMD1_ENST00000602723.1_Silent_p.L1692L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Silent_p.L1691L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1692	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		AGAGTGAGCTGAGAAGTCTGG	0.408																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(5074-5076)ctC>ctT		CUB and Sushi multiple domains 1							55.0	61.0	59.0					8																	3059159		1872	4117	5989	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3059159G>A			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.5076C>T	8.37:g.3059159G>A						CSMD1_ENST00000542608.1_Silent_p.L1691L|CSMD1_ENST00000539096.1_Silent_p.L1691L|CSMD1_ENST00000400186.3_Silent_p.L1692L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.L1692L|CSMD1_ENST00000602557.1_Silent_p.L1692L|CSMD1_ENST00000537824.1_Silent_p.L1691L	p.L1692L			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)	33	5631	-		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)	1692			CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.5076C>T		.	.	.	.	.	.	.	.	.	.	G	8.734	0.917274	0.17982	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.97	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8177	0.40862	0.0743:0.2675:0.6582:0.0	.	.	.	.	X	1172	.	.	Q	-	1	0	CSMD1	3046566	0.981000	0.34729	1.000000	0.80357	0.846000	0.48090	0.123000	0.15708	1.514000	0.48869	0.655000	0.94253	CAG		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	19	0	0	0	0.150653	0	3	19				
CCNYL1	151195	broad.mit.edu	37	2	208576752	208576752	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:208576752G>T	ENST00000295414.3	+	1	343	c.132G>T	c.(130-132)gcG>gcT	p.A44A	CCNYL1_ENST00000339882.5_Silent_p.A44A|CCNYL1_ENST00000392209.3_5'UTR|CCNYL1_ENST00000420822.1_Silent_p.A44A			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	44					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TGGCGGTAGCGCCCGCTGTGG	0.706																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(130-132)gcG>gcT		cyclin Y-like 1							9.0	17.0	15.0					2																	208576752		683	1582	2265	SO:0001819	synonymous_variant	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208576752G>T	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.132G>T	2.37:g.208576752G>T						CCNYL1_ENST00000339882.5_Silent_p.A44A|CCNYL1_ENST00000392209.3_5'UTR|CCNYL1_ENST00000420822.1_Silent_p.A44A	p.A44A			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	1	343	+			44					Q6NX60	Silent	SNP	ENST00000295414.3	37	c.132G>T																																																																																					0.706	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		4	6	1	0	0.150653	0.150653	0.152111	4	6				
PYHIN1	149628	broad.mit.edu	37	1	158906896	158906896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:158906896A>G	ENST00000368140.1	+	2	441	c.196A>G	c.(196-198)Ata>Gta	p.I66V	PYHIN1_ENST00000368135.4_Missense_Mutation_p.I66V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I66V|PYHIN1_ENST00000368138.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I66V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	66	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGGCAAACTAATAGAATTCTT	0.383																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(196-198)Ata>Gta		pyrin and HIN domain family, member 1							66.0	68.0	68.0					1																	158906896		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158906896A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.196A>G	1.37:g.158906896A>G	ENSP00000357122:p.Ile66Val					PYHIN1_ENST00000368138.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I66V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I66V|PYHIN1_ENST00000368135.4_Missense_Mutation_p.I66V	p.I66V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			2	441	+	all_hematologic(112;0.0378)		66			DAPIN.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.196A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081797	0.36758	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	2.83	2.83	0.33086	Pyrin (2);	.	.	.	.	T	0.51890	0.1701	M	0.73598	2.24	0.09310	N	1	D;D;D;D;P	0.71674	0.998;0.998;0.998;0.998;0.876	D;D;D;D;D	0.76071	0.978;0.978;0.978;0.987;0.927	T	0.34179	-0.9839	9	0.72032	D	0.01	.	7.3786	0.26843	1.0:0.0:0.0:0.0	.	66;66;66;66;66	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	V	66	ENSP00000407616:I66V;ENSP00000357122:I66V;ENSP00000357120:I66V;ENSP00000376083:I66V;ENSP00000376082:I66V;ENSP00000357117:I66V	ENSP00000357117:I66V	I	+	1	0	PYHIN1	157173520	0.002000	0.14202	0.022000	0.16811	0.030000	0.12068	0.413000	0.21148	1.283000	0.44513	0.460000	0.39030	ATA		0.383	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		31	92	0	0	0	0.760397	0	31	92				
CNST	163882	broad.mit.edu	37	1	246823595	246823595	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246823595G>T	ENST00000366513.4	+	10	2200	c.1931G>T	c.(1930-1932)cGa>cTa	p.R644L		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	644					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCATCTAAGCGAAGAGTGAGA	0.438																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1930-1932)cGa>cTa		consortin, connexin sorting protein							180.0	160.0	167.0					1																	246823595		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246823595G>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1931G>T	1.37:g.246823595G>T	ENSP00000355470:p.Arg644Leu						p.R644L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			10	2200	+			644					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1931G>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117061	0.94385	.	.	ENSG00000162852	ENST00000366513	T	0.53423	0.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73936	-0.3825	10	0.87932	D	0	-0.0062	20.0572	0.97657	0.0:0.0:1.0:0.0	.	644	Q6PJW8	CNST_HUMAN	L	644	ENSP00000355470:R644L	ENSP00000355470:R644L	R	+	2	0	CNST	244890218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.743000	0.74848	2.826000	0.97356	0.655000	0.94253	CGA		0.438	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		66	172	1	0	1.84395e-34	0.870114	2.45599e-34	66	172				
OR2K2	26248	broad.mit.edu	37	9	114090596	114090596	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:114090596A>T	ENST00000374428.1	-	1	204	c.205T>A	c.(205-207)Ttg>Atg	p.L69M	OR2K2_ENST00000302681.1_Missense_Mutation_p.L40M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CTGTTGCCCAAGAGCGTTGTC	0.413																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(205-207)Ttg>Atg		olfactory receptor, family 2, subfamily K, member 2							88.0	86.0	87.0					9																	114090596		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090596A>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.205T>A	9.37:g.114090596A>T	ENSP00000363550:p.Leu69Met					OR2K2_ENST00000302681.1_Missense_Mutation_p.L40M	p.L69M			Q8NGT1	OR2K2_HUMAN			1	204	-			69					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.205T>A		.	.	.	.	.	.	.	.	.	.	A	13.32	2.201177	0.38905	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00616	6.2;6.2	4.56	-4.82	0.03171	.	0.000000	0.31123	U	0.008202	T	0.01454	0.0047	L	0.46614	1.455	0.20074	N	0.999939	D	0.89917	1.0	D	0.91635	0.999	T	0.11567	-1.0582	10	0.66056	D	0.02	.	8.5604	0.33507	0.2209:0.2635:0.5157:0.0	.	69	Q8NGT1	OR2K2_HUMAN	M	40;69	ENSP00000305055:L40M;ENSP00000363550:L69M	ENSP00000305055:L40M	L	-	1	2	OR2K2	113130417	0.000000	0.05858	0.561000	0.28357	0.588000	0.36517	-2.531000	0.00943	-0.830000	0.04262	0.533000	0.62120	TTG		0.413	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		46	95	0	0	0	0.870114	0	46	95				
DIRAS1	148252	broad.mit.edu	37	19	2717400	2717400	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:2717400C>G	ENST00000323469.4	-	2	588	c.405G>C	c.(403-405)gcG>gcC	p.A135A	DIRAS1_ENST00000585334.1_Silent_p.A135A	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	135					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CCACCGCCTGCGCCTCGCGCG	0.617																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(403-405)gcG>gcC		DIRAS family, GTP-binding RAS-like 1							84.0	73.0	76.0					19																	2717400		2203	4300	6503	SO:0001819	synonymous_variant	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717400C>G	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.405G>C	19.37:g.2717400C>G						DIRAS1_ENST00000585334.1_Silent_p.A135A	p.A135A	NM_145173.3	NP_660156.1	O95057	DIRA1_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)	2	588	-			135						Silent	SNP	ENST00000323469.4	37	c.405G>C	CCDS12092.1																																																																																				0.617	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			25	76	0	0	0	0.654019	0	25	76				
CFHR5	81494	broad.mit.edu	37	1	196971751	196971751	+	Silent	SNP	T	T	A	rs370760497		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196971751T>A	ENST00000256785.4	+	8	1396	c.1287T>A	c.(1285-1287)atT>atA	p.I429I	CFHR5_ENST00000367414.5_Silent_p.I453I			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	429	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAGAAATTGTATGTAAAG	0.348																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1357-1359)atT>atA		complement factor H-related 5							85.0	90.0	88.0					1																	196971751		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971751T>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1287T>A	1.37:g.196971751T>A						CFHR5_ENST00000256785.4_Silent_p.I429I	p.I453I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			8	1415	+			429			Sushi 8.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.1359T>A	CCDS1387.1																																																																																				0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		31	72	0	0	0	0.779181	0	31	72				
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701																																						ENST00000388820.4																			4	Substitution - coding silent(4)	p.C1646C(4)	prostate(2)|lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4936-4938)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	11.0	11.0					15																	79051886		2150	4223	6373	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051886G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4938C>T	15.37:g.79051886G>A							p.C1646C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5148	-			1646			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4938C>T	CCDS32303.1																																																																																				0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	9	0	0	0	0.184627	0	3	9				
PDZD2	23037	broad.mit.edu	37	5	31983676	31983676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983676G>A	ENST00000438447.1	+	3	1280	c.892G>A	c.(892-894)Gat>Aat	p.D298N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D298N			O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAAAGACAGATGCTCCTCT	0.512																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(892-894)Gat>Aat		PDZ domain containing 2							95.0	99.0	97.0					5																	31983676		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983676G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.892G>A	5.37:g.31983676G>A	ENSP00000402033:p.Asp298Asn					PDZD2_ENST00000282493.3_Missense_Mutation_p.D298N	p.D298N			O15018	PDZD2_HUMAN			3	1280	+			298					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.892G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393399	0.83011	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06449	3.3;3.3	5.47	5.47	0.80525	.	0.522579	0.16369	N	0.217395	T	0.06096	0.0158	N	0.14661	0.345	0.27338	N	0.956583	P;P	0.40970	0.454;0.734	B;B	0.42798	0.054;0.398	T	0.41395	-0.9511	10	0.24483	T	0.36	.	14.8386	0.70206	0.0:0.0:1.0:0.0	.	124;298	B4E3P2;O15018	.;PDZD2_HUMAN	N	298	ENSP00000402033:D298N;ENSP00000282493:D298N	ENSP00000282493:D298N	D	+	1	0	PDZD2	32019433	0.988000	0.35896	0.847000	0.33407	0.968000	0.65278	5.642000	0.67888	2.573000	0.86826	0.650000	0.86243	GAT		0.512	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			37	186	0	0	0	0.812448	0	37	186				
CDR1	1038	broad.mit.edu	37	X	139866496	139866496	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:139866496G>A	ENST00000370532.2	-	1	227	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	12	23 X 6 AA approximate repeats.							p.D12D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACAAAGGTACGTCTTCCAGAA	0.418																																						ENST00000370532.2																			1	Substitution - coding silent(1)	p.D12D(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(34-36)gaC>gaT		cerebellar degeneration-related protein 1, 34kDa							160.0	154.0	156.0					X																	139866496		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139866496G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.36C>T	X.37:g.139866496G>A							p.D12D	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	227	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	12			23 X 6 AA approximate repeats.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.36C>T	CCDS14670.1																																																																																				0.418	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		57	51	0	0	0	0.870114	0	57	51				
PIK3CA	5290	broad.mit.edu	37	3	178922319	178922319	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:178922319G>C	ENST00000263967.3	+	6	1245	c.1088G>C	c.(1087-1089)gGa>gCa	p.G363A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	363	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCTACCATGGAGGAGAACCC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1087-1089)gGa>gCa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							216.0	177.0	189.0					3																	178922319		1844	4096	5940	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922319G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1088G>C	3.37:g.178922319G>C	ENSP00000263967:p.Gly363Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G363A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1245	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		363			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1088G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900693	0.92035	.	.	ENSG00000121879	ENST00000263967	T	0.76968	-1.06	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	D	0.91009	0.7172	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92352	0.5890	10	0.66056	D	0.02	-11.1516	19.431	0.94765	0.0:0.0:1.0:0.0	.	363	P42336	PK3CA_HUMAN	A	363	ENSP00000263967:G363A	ENSP00000263967:G363A	G	+	2	0	PIK3CA	180405013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.600000	0.87896	0.655000	0.94253	GGA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			52	177	0	0	0	0.870114	0	52	177				
C16orf62	57020	broad.mit.edu	37	16	19612993	19612993	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:19612993C>G	ENST00000251143.5	+	9	744	c.732C>G	c.(730-732)ctC>ctG	p.L244L	C16orf62_ENST00000438132.3_Silent_p.L333L|C16orf62_ENST00000448695.1_Silent_p.L94L|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000417362.2_Silent_p.L244L|C16orf62_ENST00000542263.1_Silent_p.L333L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	244						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGGAAAGCTCGTGTACGAGC	0.483											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(997-999)ctC>ctG		chromosome 16 open reading frame 62							156.0	123.0	134.0					16																	19612993		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19612993C>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.732C>G	16.37:g.19612993C>G			OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	C16orf62_ENST00000448695.1_Silent_p.L94L|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Silent_p.L333L|C16orf62_ENST00000251143.5_Silent_p.L244L|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000417362.2_Silent_p.L244L	p.L333L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			9	1047	+			244					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.999C>G																																																																																					0.483	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		19	92	0	0	0	0.608945	0	19	92				
OLFM3	118427	broad.mit.edu	37	1	102270399	102270399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270399C>A	ENST00000338858.5	-	6	831	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.G258W			Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATTCAGCCCCACTGACAAAG	0.368																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(772-774)Ggg>Tgg		olfactomedin 3							87.0	82.0	84.0					1																	102270399		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270399C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.832G>T	1.37:g.102270399C>A	ENSP00000345192:p.Gly278Trp					OLFM3_ENST00000338858.5_Missense_Mutation_p.G278W|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	p.G258W	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	985	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	278			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.772G>T		.	.	.	.	.	.	.	.	.	.	C	17.30	3.353476	0.61293	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.92752	-3.1;-3.1	5.35	5.35	0.76521	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.987	D	0.97121	0.9811	10	0.72032	D	0.01	.	19.056	0.93066	0.0:1.0:0.0:0.0	.	258;278	Q5T3V6;Q96PB7	.;NOE3_HUMAN	W	129;258;278	ENSP00000359121:G258W;ENSP00000345192:G278W	ENSP00000345192:G278W	G	-	1	0	OLFM3	102042987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.510000	0.84645	0.650000	0.86243	GGG		0.368	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			28	109	1	0	2.14196e-07	0.717897	2.42033e-07	28	109				
CYTIP	9595	broad.mit.edu	37	2	158283872	158283872	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:158283872C>T	ENST00000264192.3	-	6	658	c.537G>A	c.(535-537)caG>caA	p.Q179Q	CYTIP_ENST00000540637.1_Silent_p.Q73Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	179	Interaction with CYTH1.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCTTTAAAACCTGCAGCTTTG	0.363																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(535-537)caG>caA		cytohesin 1 interacting protein							62.0	61.0	61.0					2																	158283872		2201	4298	6499	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158283872C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.537G>A	2.37:g.158283872C>T						CYTIP_ENST00000540637.1_Silent_p.Q73Q	p.Q179Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			6	658	-			179			Interaction with CYTH1.		B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.537G>A	CCDS2204.1																																																																																				0.363	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		9	28	0	0	0	0.361761	0	9	28				
ABCA7	10347	broad.mit.edu	37	19	1042123	1042123	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:1042123G>T	ENST00000263094.6	+	5	594	c.363G>T	c.(361-363)acG>acT	p.T121T	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Silent_p.T121T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	121					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACAGGACGCTGGCTGGCC	0.716																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(361-363)acG>acT		ATP-binding cassette, sub-family A (ABC1), member 7							9.0	11.0	10.0					19																	1042123		2176	4259	6435	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042123G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.363G>T	19.37:g.1042123G>T						ABCA7_ENST00000433129.1_Silent_p.T121T	p.T121T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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)	5	594	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	121					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.363G>T	CCDS12055.1																																																																																				0.716	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	12	1	0	0.000602214	0.184627	0.000634657	4	12				
PPP2R2B	5521	broad.mit.edu	37	5	145979965	145979965	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:145979965C>A	ENST00000394413.3	-	7	1419	c.849G>T	c.(847-849)tcG>tcT	p.S283S	PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000508545.2_Silent_p.S272S|PPP2R2B_ENST00000394409.3_Silent_p.S341S|PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000394410.2_Silent_p.S272S|PPP2R2B_ENST00000453001.1_Silent_p.S283S|PPP2R2B_ENST00000336640.6_Silent_p.S286S|PPP2R2B_ENST00000394411.4_Silent_p.S283S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCGAAATCGAAGAGATAA	0.428																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(847-849)tcG>tcT		protein phosphatase 2, regulatory subunit B, beta							113.0	109.0	110.0					5																	145979965		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145979965C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.849G>T	5.37:g.145979965C>A						PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000394409.3_Silent_p.S341S|PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Silent_p.S286S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000394410.2_Silent_p.S272S|PPP2R2B_ENST00000453001.1_Silent_p.S283S|PPP2R2B_ENST00000394411.4_Silent_p.S283S|PPP2R2B_ENST00000508545.2_Silent_p.S272S	p.S283S			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1419	-			283					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.849G>T	CCDS4284.1																																																																																				0.428	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		42	69	1	0	3.4345e-17	0.859065	4.35222e-17	42	69				
KIF6	221458	broad.mit.edu	37	6	39602685	39602685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:39602685T>C	ENST00000287152.7	-	5	543	c.449A>G	c.(448-450)aAt>aGt	p.N150S	KIF6_ENST00000538893.1_Missense_Mutation_p.N150S|KIF6_ENST00000373216.3_Missense_Mutation_p.N150S|KIF6_ENST00000373215.3_Missense_Mutation_p.N150S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	150	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCACATTCATTGTAGATTTC	0.363																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(448-450)aAt>aGt		kinesin family member 6							148.0	143.0	145.0					6																	39602685		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39602685T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.449A>G	6.37:g.39602685T>C	ENSP00000287152:p.Asn150Ser					KIF6_ENST00000373216.3_Missense_Mutation_p.N150S|KIF6_ENST00000538893.1_Missense_Mutation_p.N150S|KIF6_ENST00000373215.3_Missense_Mutation_p.N150S	p.N150S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			5	543	-			150			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.449A>G	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.944328|3.944328	0.73672|0.73672	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	.|T;T;T;T	.|0.76578	.|-1.03;-1.03;-1.03;-1.03	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Kinesin, motor domain (4);	.|.	.|.	.|.	.|.	D|D	0.90501|0.90501	0.7024|0.7024	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.987;0.999	D|D	0.93413|0.93413	0.6770|0.6770	5|9	.|0.87932	.|D	.|0	.|.	13.4548|13.4548	0.61193|0.61193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|150;150;150	.|E7EUN7;F6VGH2;Q6ZMV9	.|.;.;KIF6_HUMAN	V|S	42|150	.|ENSP00000287152:N150S;ENSP00000362312:N150S;ENSP00000362311:N150S;ENSP00000441435:N150S	.|ENSP00000287152:N150S	M|N	-|-	1|2	0|0	KIF6|KIF6	39710663|39710663	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	7.344000|7.344000	0.79328|0.79328	1.997000|1.997000	0.58415|0.58415	0.455000|0.455000	0.32223|0.32223	ATG|AAT		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		45	128	0	0	0	0.870114	0	45	128				
NACA	4666	broad.mit.edu	37	12	57112034	57112034	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:57112034G>A	ENST00000454682.1	-	3	3561	c.3280C>T	c.(3280-3282)Cca>Tca	p.P1094S	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1094	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGCCTCCTTTT	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3280-3282)Cca>Tca		nascent polypeptide-associated complex alpha subunit							43.0	52.0	49.0					12																	57112034		1343	2978	4321	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112034G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3280C>T	12.37:g.57112034G>A	ENSP00000403817:p.Pro1094Ser					NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	p.P1094S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3561	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3280C>T		.	.	.	.	.	.	.	.	.	.	g	5.502	0.277672	0.10403	.	.	ENSG00000196531	ENST00000454682	T	0.52057	0.68	3.67	-3.41	0.04839	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.20240	-1.0281	7	.	.	.	.	5.9338	0.19154	0.3659:0.0:0.5124:0.1218	.	1094	E9PAV3	.	S	1094	ENSP00000403817:P1094S	.	P	-	1	0	NACA	55398301	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.096000	0.11059	-0.585000	0.05905	-0.898000	0.02899	CCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		31	88	0	0	0	0.729181	0	31	88				
PDZRN3	23024	broad.mit.edu	37	3	73433986	73433986	+	Missense_Mutation	SNP	G	G	T	rs151244384	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:73433986G>T	ENST00000263666.4	-	10	1845	c.1731C>A	c.(1729-1731)agC>agA	p.S577R	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S299R|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S234R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S234R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S294R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	577					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATTACGGGTGCTCTCGTCGG	0.622																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1729-1731)agC>agA		PDZ domain containing ring finger 3							85.0	75.0	78.0					3																	73433986		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433986G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1731C>A	3.37:g.73433986G>T	ENSP00000263666:p.Ser577Arg					PDZRN3_ENST00000466780.1_Missense_Mutation_p.S234R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S234R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S294R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S299R	p.S577R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1845	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	577					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1731C>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.574675|3.574675	0.65878|0.65878	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.16897	.|2.31;2.97;3.0;3.0;2.99;3.04	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.085013	.|0.85682	.|D	.|0.000000	T|T	0.41994|0.41994	0.1183|0.1183	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.67145	.|0.995;0.973;0.996;0.995	.|D;P;D;P	.|0.72982	.|0.979;0.621;0.938;0.881	T|T	0.33266|0.33266	-0.9875|-0.9875	5|10	.|0.56958	.|D	.|0.05	.|.	12.4238|12.4238	0.55534|0.55534	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	.|299;294;294;577	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	E|R	174|577;299;234;234;294;577;275	.|ENSP00000263666:S577R;ENSP00000442026:S299R;ENSP00000418168:S234R;ENSP00000418484:S234R;ENSP00000418624:S294R;ENSP00000419250:S275R	.|ENSP00000263666:S577R	A|S	-|-	2|3	0|2	PDZRN3|PDZRN3	73516676|73516676	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	5.336000|5.336000	0.65935|0.65935	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.622	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		12	42	1	0	4.3838e-07	0.435327	4.93572e-07	12	42				
ADAMTS7	11173	broad.mit.edu	37	15	79089014	79089014	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79089014G>T	ENST00000388820.4	-	4	947	c.737C>A	c.(736-738)aCc>aAc	p.T246N	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	246	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TACTACCAGGGTCTCCACCCA	0.607																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(736-738)aCc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							161.0	130.0	141.0					15																	79089014		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79089014G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.737C>A	15.37:g.79089014G>T	ENSP00000373472:p.Thr246Asn					ADAMTS7_ENST00000566303.1_5'UTR	p.T246N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			4	947	-			246			Peptidase M12B.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.737C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738322	0.89573	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.63096	-0.02	5.49	5.49	0.81192	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.91406	3.205	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79784	0.99;0.988;0.993	D	0.87062	0.2154	10	0.87932	D	0	.	16.8508	0.85993	0.0:0.0:1.0:0.0	.	246;246;246	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	N	246	ENSP00000373472:T246N	ENSP00000373472:T246N	T	-	2	0	ADAMTS7	76876069	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.788000	0.85771	2.582000	0.87167	0.462000	0.41574	ACC		0.607	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		10	190	1	0	2.80697e-09	0.387290	3.25401e-09	10	190				
GPR21	2844	broad.mit.edu	37	9	125797359	125797359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125797359G>T	ENST00000373642.1	+	1	554	c.514G>T	c.(514-516)Gga>Tga	p.G172*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	172					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGGCAAACCTGGATATCATGG	0.512																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(514-516)Gga>Tga		G protein-coupled receptor 21							144.0	129.0	134.0					9																	125797359		2203	4300	6503	SO:0001587	stop_gained	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797359G>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.514G>T	9.37:g.125797359G>T	ENSP00000362746:p.Gly172*					RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	p.G172*	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	554	+			172					B2R8W9|Q6NXU2	Nonsense_Mutation	SNP	ENST00000373642.1	37	c.514G>T	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260489	0.80246	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.8694	19.6115	0.95608	0.0:0.0:1.0:0.0	.	.	.	.	X	172	.	ENSP00000362746:G172X	G	+	1	0	GPR21	124837180	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.531000	0.81973	2.631000	0.89168	0.563000	0.77884	GGA		0.512	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		43	224	1	0	5.44703e-19	0.847076	6.98738e-19	43	224				
NOD2	64127	broad.mit.edu	37	16	50763774	50763774	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:50763774G>T	ENST00000300589.2	+	11	3117	c.3012G>T	c.(3010-3012)ctG>ctT	p.L1004L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1004					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAGCCCTCCTGCAGGCCCTTG	0.478																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(3010-3012)ctG>ctT		nucleotide-binding oligomerization domain containing 2							96.0	99.0	98.0					16																	50763774		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50763774G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.3012G>T	16.37:g.50763774G>T							p.L1004L	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			11	3117	+		all_cancers(37;0.0156)	1004					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.3012G>T	CCDS10746.1																																																																																				0.478	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		12	59	1	0	1.05317e-09	0.457914	1.24393e-09	12	59				
SLC8A1	6546	broad.mit.edu	37	2	40366736	40366736	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:40366736A>G	ENST00000403092.1	-	10	2383	c.2350T>C	c.(2350-2352)Ttc>Ctc	p.F784L	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F748L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F776L|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F779L|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F784L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F748L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F779L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F748L|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	784					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F784L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTCCAGAACACAGTCAGA	0.498																																						ENST00000406785.1																			1	Substitution - Missense(1)	p.F784L(1)	kidney(1)	NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2242-2244)Ttc>Ctc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						191.0	165.0	174.0					2																	40366736		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366736A>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2350T>C	2.37:g.40366736A>G	ENSP00000384763:p.Phe784Leu					SLC8A1_ENST00000408028.2_Missense_Mutation_p.F776L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F784L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F784L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F779L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F748L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F748L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F779L|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA	p.F748L			P32418	NAC1_HUMAN			7	2431	-			784					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2242T>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.938767	0.92526	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.28454	1.64;1.66;1.67;1.66;1.64;1.64;1.67;1.61;1.64;1.63	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.73372	2.23	0.80722	D	1	B;D;D;D	0.89917	0.452;0.999;1.0;0.997	P;D;D;D	0.85130	0.68;0.997;0.994;0.917	T	0.53394	-0.8445	10	0.44086	T	0.13	.	12.7782	0.57461	1.0:0.0:0.0:0.0	.	748;771;779;784	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	L	748;784;779;784;779;748;748;784;776;771;748;748	ENSP00000383886:F748L;ENSP00000440727:F779L;ENSP00000384763:F784L;ENSP00000385678:F779L;ENSP00000385188:F748L;ENSP00000385535:F748L;ENSP00000332931:F784L;ENSP00000384908:F776L;ENSP00000385811:F748L;ENSP00000443515:F748L	ENSP00000332931:F784L	F	-	1	0	SLC8A1	40220240	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.210000	0.95106	1.891000	0.54761	0.460000	0.39030	TTC		0.498	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		41	120	0	0	0	0.834066	0	41	120				
GIPC3	126326	broad.mit.edu	37	19	3589862	3589862	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3589862G>T	ENST00000322315.5	+	5	784	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	247										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCGGAAGGTTGATGACCT	0.652																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(739-741)Gtt>Ttt		GIPC PDZ domain containing family, member 3							83.0	85.0	84.0					19																	3589862		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589862G>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.739G>T	19.37:g.3589862G>T	ENSP00000319254:p.Val247Phe						p.V247F	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	5	784	+			247					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.739G>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	g	15.86	2.958085	0.53400	.	.	ENSG00000179855	ENST00000322315	D	0.85339	-1.97	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	M	0.74647	2.275	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	D	0.83690	0.0176	10	0.62326	D	0.03	-19.9972	15.1905	0.73041	0.0:0.0:1.0:0.0	.	247	Q8TF64	GIPC3_HUMAN	F	247	ENSP00000319254:V247F	ENSP00000319254:V247F	V	+	1	0	GIPC3	3540862	1.000000	0.71417	0.962000	0.40283	0.641000	0.38312	9.060000	0.93907	2.175000	0.68902	0.486000	0.48141	GTT		0.652	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		35	189	1	0	2.95478e-19	0.840704	3.80595e-19	35	189				
TCAIM	285343	broad.mit.edu	37	3	44442041	44442041	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:44442041C>T	ENST00000342649.4	+	9	1507	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	TCAIM_ENST00000417237.1_Silent_p.H360H	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	360						mitochondrion (GO:0005739)											TACTATTTCACCCTCGAAGTT	0.323																																						ENST00000342649.4																			0											c.(1078-1080)caC>caT		T cell activation inhibitor, mitochondrial							81.0	83.0	82.0					3																	44442041		2203	4296	6499	SO:0001819	synonymous_variant	285343							g.chr3:44442041C>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1080C>T	3.37:g.44442041C>T						TCAIM_ENST00000417237.1_Silent_p.H360H	p.H360H	NM_173826.3	NP_776187.2					9	1507	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.1080C>T	CCDS2712.1																																																																																				0.323	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		21	87	0	0	0	0.639603	0	21	87				
TAF1	6872	broad.mit.edu	37	X	70618460	70618460	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:70618460A>G	ENST00000373790.4	+	24	3707	c.3656A>G	c.(3655-3657)gAg>gGg	p.E1219G	TAF1_ENST00000449580.1_Missense_Mutation_p.E1219G|TAF1_ENST00000423759.1_Missense_Mutation_p.E1240G|TAF1_ENST00000276072.3_Missense_Mutation_p.E1240G	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1219					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCGGGAAGAGATGCGAAAA	0.468																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3655-3657)gAg>gGg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							91.0	77.0	81.0					X																	70618460		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70618460A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3656A>G	X.37:g.70618460A>G	ENSP00000362895:p.Glu1219Gly					TAF1_ENST00000373790.4_Missense_Mutation_p.E1219G|TAF1_ENST00000423759.1_Missense_Mutation_p.E1240G|TAF1_ENST00000276072.3_Missense_Mutation_p.E1240G	p.E1219G			P21675	TAF1_HUMAN			24	3707	+	Renal(35;0.156)	all_lung(315;0.000321)	1219					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3656A>G	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.5|26.5	4.739047|4.739047	0.89573|0.89573	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072|ENST00000483985	T;T;T;T|.	0.21191|.	2.02;2.02;2.02;2.02|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.095313|.	0.64402|.	D|.	0.000001|.	T|T	0.63803|0.63803	0.2542|0.2542	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.996;0.987;0.992|.	T|T	0.61720|0.61720	-0.7005|-0.7005	10|5	0.72032|.	D|.	0.01|.	.|.	14.7148|14.7148	0.69259|0.69259	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1219;1219;1240|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	G|G	1219;1219;1240;1240|130	ENSP00000362895:E1219G;ENSP00000389000:E1219G;ENSP00000406549:E1240G;ENSP00000276072:E1240G|.	ENSP00000276072:E1240G|.	E|R	+|+	2|1	0|2	TAF1|TAF1	70535185|70535185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	8.959000|8.959000	0.93110|0.93110	1.856000|1.856000	0.53863|0.53863	0.381000|0.381000	0.24937|0.24937	GAG|AGA		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		6	39	0	0	0	0.248553	0	6	39				
SGSM2	9905	broad.mit.edu	37	17	2281220	2281220	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:2281220C>A	ENST00000426855.2	+	21	2912	c.2737C>A	c.(2737-2739)Cgc>Agc	p.R913S	RP1-59D14.5_ENST00000573007.1_RNA|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.R958S|SGSM2_ENST00000574563.1_Missense_Mutation_p.R913S	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	913	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CTTCTGTTATCGCTGGTTCCT	0.507																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2872-2874)Cgc>Agc		small G protein signaling modulator 2							183.0	157.0	166.0					17																	2281220		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2281220C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2737C>A	17.37:g.2281220C>A	ENSP00000415107:p.Arg913Ser					SGSM2_ENST00000426855.2_Missense_Mutation_p.R913S|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.R913S	p.R958S	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	22	3049	+			913					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2872C>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	c	34	5.310434	0.95629	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.30448	1.53;1.53	6.04	6.04	0.98038	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	H	0.97390	3.995	0.80722	D	1	D;P;P;D	0.89917	1.0;0.941;0.941;0.994	D;P;P;D	0.97110	1.0;0.758;0.758;0.935	T	0.81780	-0.0776	10	0.87932	D	0	-18.7481	19.5819	0.95471	0.0:1.0:0.0:0.0	.	913;913;913;958	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	S	958;913	ENSP00000268989:R958S;ENSP00000415107:R913S	ENSP00000268989:R958S	R	+	1	0	SGSM2	2227970	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.045000	0.71020	2.876000	0.98609	0.651000	0.88453	CGC		0.507	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		4	100	1	0	0.014758	0.184627	0.0151451	4	100				
CPXCR1	53336	broad.mit.edu	37	X	88009098	88009098	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:88009098G>T	ENST00000276127.4	+	3	942	c.683G>T	c.(682-684)aGa>aTa	p.R228I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R228I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	228							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGGAAATGTAGATTCCGTGCT	0.373																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(682-684)aGa>aTa		CPX chromosome region, candidate 1							70.0	56.0	61.0					X																	88009098		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009098G>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.683G>T	X.37:g.88009098G>T	ENSP00000276127:p.Arg228Ile					CPXCR1_ENST00000373111.1_Missense_Mutation_p.R228I	p.R228I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	942	+			228					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.683G>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914296	0.33815	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.25749	1.78;1.78	3.57	0.0105	0.14083	.	1.114970	0.06968	N	0.817625	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	D	0.55605	0.972	B	0.42245	0.381	T	0.20240	-1.0281	9	.	.	.	-2.7014	6.0174	0.19611	0.4544:0.0:0.5456:0.0	.	228	Q8N123	CPXCR_HUMAN	I	228	ENSP00000276127:R228I;ENSP00000362203:R228I	.	R	+	2	0	CPXCR1	87895754	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.292000	0.08332	-0.110000	0.12022	0.594000	0.82650	AGA		0.373	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		14	16	1	0	1.15088e-07	0.500413	1.30991e-07	14	16				
NSD1	64324	broad.mit.edu	37	5	176687152	176687152	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:176687152G>C	ENST00000439151.2	+	14	5174	c.5129G>C	c.(5128-5130)tGc>tCc	p.C1710S	NSD1_ENST00000347982.4_Missense_Mutation_p.C1441S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1607S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM043035	NSD1	M		c.(5128-5130)tGc>tCc		nuclear receptor binding SET domain protein 1							65.0	60.0	62.0					5																	176687152		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687152G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5129G>C	5.37:g.176687152G>C	ENSP00000395929:p.Cys1710Ser	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.C1607S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441S	p.C1710S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5174	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1710					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5129G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568229	0.86439	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63	5.51	5.51	0.81932	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.99753	0.9901	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.97010	0.9735	10	0.87932	D	0	.	19.783	0.96424	0.0:0.0:1.0:0.0	.	1441;1607;1710	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1441;1710;1441;1607	ENSP00000346111:C1441S;ENSP00000395929:C1710S;ENSP00000343209:C1441S;ENSP00000354310:C1607S	ENSP00000343209:C1441S	C	+	2	0	NSD1	176619758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.752000	0.94435	0.467000	0.42956	TGC		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		15	31	0	0	0	0.479597	0	15	31				
MTA1	9112	broad.mit.edu	37	14	105932764	105932764	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:105932764G>A	ENST00000331320.7	+	17	1840	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTA1_ENST00000435036.2_Splice_Site_p.E78E|MTA1_ENST00000405646.1_Splice_Site_p.E525E|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Splice_Site_p.E542E	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	542					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TCCCGGCAGAGACCCACCCCC	0.682																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.e17-1		metastasis associated 1							11.0	14.0	13.0					14																	105932764		2177	4272	6449	SO:0001630	splice_region_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105932764G>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1625-1G>A	14.37:g.105932764G>A						MTA1_ENST00000435036.2_Splice_Site_p.E78_splice|MTA1_ENST00000405646.1_Splice_Site_p.E525_splice|MTA1_ENST00000406191.1_Splice_Site_p.E542_splice	p.E542_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	17	1840	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	542					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Splice_Site	SNP	ENST00000331320.7	37	c.1624_splice	CCDS32169.1																																																																																				0.682	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Silent	5	6	0	0	0	0.248553	0	5	6				
HERC2P3	283755	broad.mit.edu	37	15	20643936	20643936	+	RNA	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:20643936G>A	ENST00000428453.1	-	0	3523							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGAGTCATGGTGACTTCTCC	0.567																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															31.0	27.0	29.0					15																	20643936		2178	4237	6415			283755							g.chr15:20643936G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643936G>A														0	3523	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.567	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		18	105	0	0	0	0.592651	0	18	105				
KCNF1	3754	broad.mit.edu	37	2	11052775	11052775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11052775C>T	ENST00000295082.1	+	1	713	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	75					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCCGGCAAGCGCGAGTTCTA	0.592																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(223-225)Cgc>Tgc		potassium voltage-gated channel, subfamily F, member 1							48.0	51.0	50.0					2																	11052775		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052775C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.223C>T	2.37:g.11052775C>T	ENSP00000295082:p.Arg75Cys						p.R75C	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	713	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		75					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.223C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990356	0.54041	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	4.89	3.87	0.44632	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.227416	0.43919	D	0.000511	D	0.95072	0.8404	M	0.64080	1.96	0.54753	D	0.999988	D	0.69078	0.997	P	0.57846	0.828	D	0.94744	0.7921	10	0.87932	D	0	.	10.4428	0.44474	0.4336:0.5664:0.0:0.0	.	75	Q9H3M0	KCNF1_HUMAN	C	75	ENSP00000295082:R75C	ENSP00000295082:R75C	R	+	1	0	KCNF1	10970226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.085000	0.41634	2.407000	0.81776	0.563000	0.77884	CGC		0.592	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		10	47	0	0	0	0.335167	0	10	47				
TRGJP	6970	broad.mit.edu	37	7	38313237	38313237	+	RNA	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:38313237C>A	ENST00000390338.2	-	0	11				TRGJP1_ENST00000390339.1_RNA					T cell receptor gamma joining P																		TTTTTTTGCCCAACTCTTGCC	0.358																																						ENST00000390338.2																			0																				117.0	125.0	123.0					7																	38313237		1803	4073	5876			6970							g.chr7:38313237C>A	M12950		7p14	2012-02-07			ENSG00000211691	ENSG00000211691		"""T cell receptors / TRG locus"""	12279	other	T cell receptor gene	"""T-cell receptor, gamma, joining segment JP"""			TCRGJP		2938743	Standard	NG_001336		Approved	JP			OTTHUMG00000155220		7.37:g.38313237C>A														0	11	-									RNA	SNP	ENST00000390338.2	37																																																																																						0.358	TRGJP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000338826.1	NG_001336		56	213	1	0	3.07184e-27	0.870114	4.07409e-27	56	213				
CDH10	1008	broad.mit.edu	37	5	24488015	24488015	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:24488015C>A	ENST00000264463.4	-	12	2631	c.2124G>T	c.(2122-2124)acG>acT	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2122-2124)acG>acT		cadherin 10, type 2 (T2-cadherin)							81.0	87.0	85.0					5																	24488015		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488015C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2124G>T	5.37:g.24488015C>A		HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.T708T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2631	-			708					Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2124G>T	CCDS3892.1																																																																																				0.473	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		41	160	1	0	8.69298e-16	0.827153	1.09714e-15	41	160				
CDH15	1013	broad.mit.edu	37	16	89251724	89251724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:89251724G>C	ENST00000289746.2	+	5	711	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CACAGTGCAAGTGGGGCTGGA	0.697																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(646-648)Gtg>Ctg		cadherin 15, type 1, M-cadherin (myotubule)							44.0	37.0	39.0					16																	89251724		2195	4296	6491	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251724G>C	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.646G>C	16.37:g.89251724G>C	ENSP00000289746:p.Val216Leu						p.V216L	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	711	+			216			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.646G>C	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654340	0.47467	.	.	ENSG00000129910	ENST00000289746	T	0.52295	0.67	4.72	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000210	T	0.45135	0.1327	L	0.51422	1.61	0.58432	D	0.999997	P	0.35527	0.507	B	0.35550	0.205	T	0.49204	-0.8964	10	0.49607	T	0.09	.	16.4536	0.84003	0.0:0.0:1.0:0.0	.	216	P55291	CAD15_HUMAN	L	216	ENSP00000289746:V216L	ENSP00000289746:V216L	V	+	1	0	CDH15	87779225	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	3.867000	0.56047	2.164000	0.68074	0.462000	0.41574	GTG		0.697	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		7	15	0	0	0	0.307466	0	7	15				
MIS18BP1	55320	broad.mit.edu	37	14	45711704	45711704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45711704G>C	ENST00000310806.4	-	4	1134	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	226					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTGTTCTTGGTTCAGAGTT	0.328																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(676-678)Caa>Gaa		MIS18 binding protein 1							34.0	38.0	37.0					14																	45711704		2201	4288	6489	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711704G>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.676C>G	14.37:g.45711704G>C	ENSP00000309790:p.Gln226Glu						p.Q226E	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			4	1134	-			226					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.676C>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236723	0.01493	.	.	ENSG00000129534	ENST00000310806	T	0.19250	2.16	5.09	1.95	0.26073	.	0.388812	0.24044	N	0.042074	T	0.11367	0.0277	N	0.16656	0.425	0.09310	N	0.999997	B	0.12013	0.005	B	0.09377	0.004	T	0.24512	-1.0158	10	0.31617	T	0.26	-2.67	8.8057	0.34936	0.0:0.3025:0.5423:0.1552	.	226	Q6P0N0	M18BP_HUMAN	E	226	ENSP00000309790:Q226E	ENSP00000309790:Q226E	Q	-	1	0	MIS18BP1	44781454	0.842000	0.29525	0.407000	0.26434	0.222000	0.24845	1.162000	0.31786	0.605000	0.29947	0.585000	0.79938	CAA		0.328	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			38	108	0	0	0	0.796494	0	38	108				
CSNK2A1	1457	broad.mit.edu	37	20	485836	485836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:485836G>A	ENST00000217244.3	-	4	514	c.139C>T	c.(139-141)Cga>Tga	p.R47*	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R47*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TATTTACCTCGGCCTAATTTT	0.343																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(139-141)Cga>Tga		casein kinase 2, alpha 1 polypeptide							84.0	71.0	76.0					20																	485836		2203	4299	6502	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:485836G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.139C>T	20.37:g.485836G>A	ENSP00000217244:p.Arg47*					CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R47*|CSNK2A1_ENST00000400217.1_5'UTR	p.R47*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		4	514	-		Breast(17;0.231)	47			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.139C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	37	6.628062	0.97718	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	4.56	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3143	12.4634	0.55745	0.0:0.0:0.7888:0.2112	.	.	.	.	X	47	.	ENSP00000217244:R47X	R	-	1	2	CSNK2A1	433836	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.377000	0.59562	1.112000	0.41740	0.555000	0.69702	CGA		0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		17	67	0	0	0	0.557998	0	17	67				
ANK1	286	broad.mit.edu	37	8	41530294	41530294	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:41530294G>A	ENST00000347528.4	-	38	4757	c.4674C>T	c.(4672-4674)gaC>gaT	p.D1558D	ANK1_ENST00000289734.7_Silent_p.D1558D|ANK1_ENST00000379758.2_Silent_p.D1558D|ANK1_ENST00000396945.1_Silent_p.D1558D|ANK1_ENST00000265709.8_Silent_p.D1599D|ANK1_ENST00000396942.1_Silent_p.D1558D|ANK1_ENST00000352337.4_Silent_p.D1558D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1558	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCATGGTGTCATGCTCCG	0.612																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4672-4674)gaC>gaT		ankyrin 1, erythrocytic							49.0	48.0	48.0					8																	41530294		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530294G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4674C>T	8.37:g.41530294G>A						ANK1_ENST00000265709.8_Silent_p.D1599D|ANK1_ENST00000379758.2_Silent_p.D1558D|ANK1_ENST00000352337.4_Silent_p.D1558D|ANK1_ENST00000289734.7_Silent_p.D1558D|ANK1_ENST00000347528.4_Silent_p.D1558D|ANK1_ENST00000396945.1_Silent_p.D1558D	p.D1558D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4757	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1558			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4674C>T	CCDS6119.1																																																																																				0.612	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		9	77	0	0	0	0.335167	0	9	77				
ASPG	374569	broad.mit.edu	37	14	104561928	104561928	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:104561928G>A	ENST00000551177.1	+	4	456	c.364G>A	c.(364-366)Gct>Act	p.A122T	ASPG_ENST00000546892.2_Missense_Mutation_p.A122T|ASPG_ENST00000455920.2_Missense_Mutation_p.A122T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	122	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CATGGCCTTTGCTGCCTCGAT	0.637																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(364-366)Gct>Act		asparaginase homolog (S. cerevisiae)							72.0	79.0	77.0					14																	104561928		2145	4250	6395	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104561928G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.364G>A	14.37:g.104561928G>A	ENSP00000450040:p.Ala122Thr					ASPG_ENST00000455920.2_Missense_Mutation_p.A122T|ASPG_ENST00000546892.2_Missense_Mutation_p.A122T	p.A122T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			4	456	+			122			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.364G>A	CCDS45170.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.553|5.553	0.286922|0.286922	0.10513|0.10513	.|.	.|.	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	T;T;T|.	0.09630|.	2.96;2.96;2.96|.	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	0.053861|.	0.64402|.	D|.	0.000001|.	T|T	0.10252|0.10252	0.0251|0.0251	N|N	0.00778|0.00778	-1.195|-1.195	0.32120|0.32120	N|N	0.588118|0.588118	B;B;B;B|.	0.26635|.	0.034;0.155;0.047;0.043|.	B;B;B;B|.	0.23716|.	0.012;0.048;0.028;0.02|.	T|T	0.15607|0.15607	-1.0431|-1.0431	10|5	0.02654|.	T|.	1|.	-14.8253|-14.8253	6.9883|6.9883	0.24741|0.24741	0.2018:0.0:0.7982:0.0|0.2018:0.0:0.7982:0.0	.|.	122;122;122;150|.	G3V1Y8;Q86U10;Q86U10-3;E5RFC2|.	.;LPP60_HUMAN;.;.|.	T|Y	122;150;122;122|58	ENSP00000450040:A122T;ENSP00000448911:A122T;ENSP00000389003:A122T|.	ENSP00000299234:A150T|.	A|C	+|+	1|2	0|0	ASPG|ASPG	103631681|103631681	0.912000|0.912000	0.30974|0.30974	0.580000|0.580000	0.28601|0.28601	0.765000|0.765000	0.43378|0.43378	3.895000|3.895000	0.56258|0.56258	2.070000|2.070000	0.61991|0.61991	0.555000|0.555000	0.69702|0.69702	GCT|TGC		0.637	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		35	63	0	0	0	0.788014	0	35	63				
ZNF536	9745	broad.mit.edu	37	19	30935280	30935280	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:30935280G>C	ENST00000355537.3	+	2	958	c.811G>C	c.(811-813)Gcg>Ccg	p.A271P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	271					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTGGCCCCGGCGGCGGGCTT	0.672																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(811-813)Gcg>Ccg		zinc finger protein 536							10.0	12.0	11.0					19																	30935280		2149	4223	6372	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935280G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.811G>C	19.37:g.30935280G>C	ENSP00000347730:p.Ala271Pro						p.A271P	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	958	+	Esophageal squamous(110;0.0834)		271					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.811G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185817	0.21870	.	.	ENSG00000198597	ENST00000355537	T	0.09445	2.98	5.7	4.46	0.54185	.	0.214948	0.49305	D	0.000150	T	0.11793	0.0287	N	0.24115	0.695	0.39462	D	0.967588	B;D	0.53462	0.022;0.96	B;P	0.51945	0.025;0.685	T	0.02378	-1.1168	10	0.41790	T	0.15	-23.9157	9.7115	0.40247	0.1969:0.0:0.8031:0.0	.	271;271	A7E228;O15090	.;ZN536_HUMAN	P	271	ENSP00000347730:A271P	ENSP00000347730:A271P	A	+	1	0	ZNF536	35627120	0.964000	0.33143	0.663000	0.29738	0.705000	0.40729	2.110000	0.41873	2.702000	0.92279	0.491000	0.48974	GCG		0.672	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	23	0	0	0	0.307466	0	7	23				
MAB21L2	10586	broad.mit.edu	37	4	151504465	151504465	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:151504465C>A	ENST00000317605.4	+	1	1389	c.284C>A	c.(283-285)cCc>cAc	p.P95H	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	95					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTCGCTGCCCGGCTGCGCA	0.602																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(283-285)cCc>cAc		mab-21-like 2 (C. elegans)							79.0	73.0	75.0					4																	151504465		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504465C>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.284C>A	4.37:g.151504465C>A	ENSP00000324701:p.Pro95His					LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	p.P95H	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1389	+	all_hematologic(180;0.151)		95					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.284C>A	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791661	0.70452	.	.	ENSG00000181541	ENST00000317605	T	0.10573	2.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.01600	-1.1315	10	0.34782	T	0.22	-18.3761	20.2985	0.98592	0.0:1.0:0.0:0.0	.	95	Q9Y586	MB212_HUMAN	H	95	ENSP00000324701:P95H	ENSP00000324701:P95H	P	+	2	0	MAB21L2	151723915	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	CCC		0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		11	91	1	0	1.08611e-07	0.387290	1.2407e-07	11	91				
PNLIPRP1	5407	broad.mit.edu	37	10	118355756	118355756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:118355756C>T	ENST00000528052.1	+	6	567	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.H166Y|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.H166Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	166					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCCAAAGTTCACCTCATTGG	0.527																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(496-498)Cac>Tac		pancreatic lipase-related protein 1							159.0	167.0	165.0					10																	118355756		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118355756C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.496C>T	10.37:g.118355756C>T	ENSP00000433933:p.His166Tyr					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.H166Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.H166Y	p.H166Y			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	6	567	+			166					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.496C>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298544	0.60195	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000530319;ENST00000534537	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	5.1	4.2	0.49525	Lipase, N-terminal (1);	0.137435	0.50627	D	0.000113	D	0.96454	0.8843	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96707	0.9522	10	0.87932	D	0	-8.1746	12.7842	0.57496	0.0:0.9185:0.0:0.0815	.	166	P54315	LIPR1_HUMAN	Y	166;166;166;121;166	ENSP00000436123:H166Y;ENSP00000351695:H166Y;ENSP00000433933:H166Y;ENSP00000437263:H121Y;ENSP00000434159:H166Y	ENSP00000351695:H166Y	H	+	1	0	PNLIPRP1	118345746	1.000000	0.71417	0.976000	0.42696	0.474000	0.32979	6.543000	0.73874	1.269000	0.44280	0.655000	0.94253	CAC		0.527	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		94	322	0	0	0	0.870114	0	94	322				
ANKRD52	283373	broad.mit.edu	37	12	56648493	56648493	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:56648493C>A	ENST00000267116.7	-	7	683	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	188										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTTTTAGGACCTCCAAGTGC	0.542																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(562-564)Gtc>Ttc		ankyrin repeat domain 52							30.0	30.0	30.0					12																	56648493		1962	4161	6123	SO:0001583	missense	283373						protein binding	g.chr12:56648493C>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.562G>T	12.37:g.56648493C>A	ENSP00000267116:p.Val188Phe						p.V188F	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			7	683	-			188					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.562G>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273744	0.80580	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.68025	-0.3	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.136255	0.48767	D	0.000166	T	0.79764	0.4502	M	0.77406	2.37	0.58432	D	0.999998	D	0.76494	0.999	D	0.74348	0.983	T	0.81439	-0.0932	10	0.87932	D	0	.	10.8143	0.46567	0.0:0.912:0.0:0.088	.	188	Q8NB46	ANR52_HUMAN	F	188	ENSP00000267116:V188F	ENSP00000267116:V188F	V	-	1	0	ANKRD52	54934760	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.125000	0.50469	2.688000	0.91661	0.655000	0.94253	GTC		0.542	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		7	35	1	0	0.0293803	0.248553	0.0298573	7	35				
PALD1	27143	broad.mit.edu	37	10	72285834	72285834	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:72285834T>A	ENST00000263563.6	+	2	395	c.127T>A	c.(127-129)Ttg>Atg	p.L43M		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	43						cytosol (GO:0005829)											GAGCACTAGCTTGCATAACAG	0.602																																						ENST00000263563.6																			0											c.(127-129)Ttg>Atg		phosphatase domain containing, paladin 1							140.0	92.0	108.0					10																	72285834		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72285834T>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.127T>A	10.37:g.72285834T>A	ENSP00000263563:p.Leu43Met						p.L43M	NM_014431.2	NP_055246.2					2	395	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.127T>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952065	0.73787	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27720	1.65	5.21	-2.06	0.07298	.	0.144445	0.47093	D	0.000245	T	0.35885	0.0947	M	0.75447	2.3	0.29295	N	0.86908	D	0.59357	0.985	P	0.54629	0.757	T	0.30475	-0.9977	10	0.66056	D	0.02	-5.7796	1.6752	0.02820	0.1495:0.333:0.3055:0.212	.	43	Q9ULE6	PALD_HUMAN	M	43	ENSP00000263563:L43M	ENSP00000263563:L43M	L	+	1	2	KIAA1274	71955840	0.996000	0.38824	0.716000	0.30569	0.986000	0.74619	0.941000	0.29005	-0.178000	0.10672	0.533000	0.62120	TTG		0.602	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		24	87	0	0	0	0.693898	0	24	87				
GALNT4	8693	broad.mit.edu	37	12	89918285	89918285	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:89918285C>T	ENST00000529983.2	-	1	298	c.42G>A	c.(40-42)ctG>ctA	p.L14L	POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	14					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAACGCCAGCAGCAGGCAGC	0.622											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529983.2																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(40-42)ctG>ctA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)							26.0	29.0	28.0					12																	89918285		1958	4141	6099	SO:0001819	synonymous_variant	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89918285C>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.42G>A	12.37:g.89918285C>T			OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Intron	p.L14L	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN			1	298	-			14					B2R775|B4DMX6|O00208	Silent	SNP	ENST00000529983.2	37	c.42G>A	CCDS53817.1																																																																																				0.622	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		5	80	0	0	0	0.184627	0	5	80				
ANKRD2	26287	broad.mit.edu	37	10	99343356	99343356	+	Silent	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:99343356G>C	ENST00000307518.5	+	9	1224	c.957G>C	c.(955-957)ctG>ctC	p.L319L	PI4K2A_ENST00000555577.1_5'Flank|HOGA1_ENST00000370646.4_5'Flank|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000370655.1_Silent_p.L292L|ANKRD2_ENST00000455090.1_Silent_p.L259L|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000298808.5_Silent_p.L286L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	319					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CGACGGACCTGGTGCAGCTCT	0.622																																						ENST00000307518.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(955-957)ctG>ctC		ankyrin repeat domain 2 (stretch responsive muscle)							15.0	16.0	16.0					10																	99343356		2199	4296	6495	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99343356G>C	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.957G>C	10.37:g.99343356G>C						ANKRD2_ENST00000298808.5_Silent_p.L286L|ANKRD2_ENST00000370655.1_Silent_p.L292L|ANKRD2_ENST00000455090.1_Silent_p.L259L	p.L319L			Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	9	1224	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	319					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.957G>C	CCDS7466.1																																																																																				0.622	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	11	0	0	0	0.278610	0	7	11				
CLEC14A	161198	broad.mit.edu	37	14	38724597	38724597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:38724597C>T	ENST00000342213.2	-	1	977	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	211						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E211*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCACTCACCTCGGTCCCAGGT	0.652																																						ENST00000342213.2																			1	Substitution - Nonsense(1)	p.E211*(1)	lung(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(631-633)Gag>Aag		C-type lectin domain family 14, member A							66.0	71.0	70.0					14																	38724597		2201	4298	6499	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724597C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.631G>A	14.37:g.38724597C>T	ENSP00000353013:p.Glu211Lys						p.E211K	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	977	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		211					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.631G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137428	0.01742	.	.	ENSG00000176435	ENST00000342213	T	0.73897	-0.79	4.13	-8.27	0.01017	.	1.267770	0.05894	N	0.628756	T	0.56381	0.1981	L	0.27053	0.805	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.52638	-0.8549	10	0.08837	T	0.75	-0.4461	14.1573	0.65426	0.0:0.5691:0.3187:0.1122	.	211	Q86T13	CLC14_HUMAN	K	211	ENSP00000353013:E211K	ENSP00000353013:E211K	E	-	1	0	CLEC14A	37794348	0.002000	0.14202	0.050000	0.19076	0.437000	0.31866	-1.934000	0.01552	-2.941000	0.00297	-1.239000	0.01543	GAG		0.652	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		76	176	0	0	0	0.870114	0	76	176				
PDS5B	23047	broad.mit.edu	37	13	33334734	33334734	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:33334734G>C	ENST00000315596.10	+	30	3580	c.3394G>C	c.(3394-3396)Gga>Cga	p.G1132R	RNY1P4_ENST00000384595.1_RNA	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1132					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAATGTTCTAGGAGCTGTTAA	0.383																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3394-3396)Gga>Cga		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							85.0	78.0	80.0					13																	33334734		1939	4143	6082	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33334734G>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3394G>C	13.37:g.33334734G>C	ENSP00000313851:p.Gly1132Arg						p.G1132R	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	30	3580	+		Lung SC(185;0.0367)	1132					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3394G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044299	0.93685	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.63510	-0.6621	9	0.10111	T	0.7	-16.0665	20.3733	0.98896	0.0:0.0:1.0:0.0	.	1132	Q9NTI5	PDS5B_HUMAN	R	1132;1132;86	.	ENSP00000313851:G1132R	G	+	1	0	PDS5B	32232734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.274000	0.95731	2.816000	0.96949	0.650000	0.86243	GGA		0.383	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		19	62	0	0	0	0.557998	0	19	62				
ADAMTS19	171019	broad.mit.edu	37	5	129072905	129072905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:129072905G>C	ENST00000274487.4	+	23	3763	c.3618G>C	c.(3616-3618)aaG>aaC	p.K1206N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1206						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGCAGAAGAGTTGACCTC	0.448																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3616-3618)aaG>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 19							61.0	52.0	55.0					5																	129072905		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129072905G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3618G>C	5.37:g.129072905G>C	ENSP00000274487:p.Lys1206Asn					CTC-575N7.1_ENST00000503616.1_RNA	p.K1206N	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	23	3763	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1206						Missense_Mutation	SNP	ENST00000274487.4	37	c.3618G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209474	0.39003	.	.	ENSG00000145808	ENST00000274487	T	0.67171	-0.25	3.99	3.12	0.35913	.	0.272209	0.28688	N	0.014464	T	0.43523	0.1251	N	0.14661	0.345	0.34398	D	0.694903	P	0.37781	0.608	B	0.34991	0.193	T	0.53542	-0.8424	9	.	.	.	.	9.1673	0.37058	0.1711:0.0:0.8289:0.0	.	1206	Q8TE59	ATS19_HUMAN	N	1206	ENSP00000274487:K1206N	.	K	+	3	2	ADAMTS19	129100804	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.626000	0.46460	1.280000	0.44463	0.557000	0.71058	AAG		0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	18	0	0	0	0.435327	0	14	18				
TLE2	7089	broad.mit.edu	37	19	3009612	3009612	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3009612C>A	ENST00000262953.6	-	13	1363	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.V368V|TLE2_ENST00000455444.2_Silent_p.V245V|TLE2_ENST00000426948.2_Silent_p.V381V|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000591529.1_Silent_p.V381V|TLE2_ENST00000443826.3_Silent_p.V245V	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	367	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGGAGCTGGGCACGGAGAGGT	0.662																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1099-1101)gtG>gtT		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							37.0	46.0	43.0					19																	3009612		2085	4194	6279	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3009612C>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1101G>T	19.37:g.3009612C>A						TLE2_ENST00000591529.1_Silent_p.V381V|TLE2_ENST00000455444.2_Silent_p.V245V|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.V368V|TLE2_ENST00000426948.2_Silent_p.V381V|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000443826.3_Silent_p.V245V	p.V367V	NM_003260.4	NP_003251.2	Q04725	TLE2_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)	13	1363	-			367			Pro/Ser-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.1101G>T	CCDS45911.1																																																																																				0.662	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		3	23	1	0	0.00909568	0.150653	0.00939587	3	23				
NLRP5	126206	broad.mit.edu	37	19	56552287	56552287	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56552287G>T	ENST00000390649.3	+	11	2786		c.e11-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCTTGCAGACTGGAGGAC	0.542																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.e11-1		NLR family, pyrin domain containing 5							56.0	55.0	55.0					19																	56552287		1969	4168	6137	SO:0001630	splice_region_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552287G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2787-1G>T	19.37:g.56552287G>T								NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2786	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)						A8MTY4|Q86W29	Splice_Site	SNP	ENST00000390649.3	37		CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967070	0.34754	.	.	ENSG00000171487	ENST00000390649	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1254	0.59351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61244099	1.000000	0.71417	0.091000	0.20842	0.004000	0.04260	5.046000	0.64226	2.373000	0.80994	0.655000	0.94253	.		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	Intron	14	50	1	0	1.49906e-05	0.457914	1.64058e-05	14	50				
CCDC42	146849	broad.mit.edu	37	17	8638909	8638909	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:8638909C>A	ENST00000293845.3	-	5	739	c.513G>T	c.(511-513)gtG>gtT	p.V171V	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	171										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						AGCGTGCAATCACCTCATGGA	0.642																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(511-513)gtG>gtT		coiled-coil domain containing 42							54.0	46.0	48.0					17																	8638909		2203	4300	6503	SO:0001819	synonymous_variant	146849							g.chr17:8638909C>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.513G>T	17.37:g.8638909C>A						CCDC42_ENST00000539522.2_Intron	p.V171V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			5	739	-			171	Missing (in Ref. 2; AAH29224).				Q8N6Q0	Silent	SNP	ENST00000293845.3	37	c.513G>T	CCDS11145.1																																																																																				0.642	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		5	55	1	0	0.014758	0.184627	0.0151451	5	55				
DDX60	55601	broad.mit.edu	37	4	169157507	169157507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:169157507G>C	ENST00000393743.3	-	33	4720	c.4429C>G	c.(4429-4431)Caa>Gaa	p.Q1477E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1477					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAACGTCTTGAGAAAAATGT	0.303																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(4429-4431)Caa>Gaa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							77.0	74.0	75.0					4																	169157507		2201	4296	6497	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169157507G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4429C>G	4.37:g.169157507G>C	ENSP00000377344:p.Gln1477Glu						p.Q1477E	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	33	4720	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1477					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.4429C>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	0.487	-0.877356	0.02550	.	.	ENSG00000137628	ENST00000393743	T	0.14640	2.49	5.27	-0.589	0.11683	.	0.607022	0.15700	N	0.248991	T	0.07638	0.0192	N	0.20574	0.59	0.22918	N	0.998566	B	0.10296	0.003	B	0.08055	0.003	T	0.38993	-0.9635	10	0.02654	T	1	.	15.7751	0.78207	0.0:0.5967:0.3168:0.0865	.	1477	Q8IY21	DDX60_HUMAN	E	1477	ENSP00000377344:Q1477E	ENSP00000377344:Q1477E	Q	-	1	0	DDX60	169394082	0.965000	0.33210	0.998000	0.56505	0.265000	0.26407	-0.096000	0.11059	0.123000	0.18342	-0.310000	0.09108	CAA		0.303	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		12	90	0	0	0	0.411799	0	12	90				
GRIN2D	2906	broad.mit.edu	37	19	48908443	48908443	+	Silent	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:48908443A>C	ENST00000263269.3	+	3	1006	c.918A>C	c.(916-918)gcA>gcC	p.A306A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	306					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTGTTTGCAGTGCGCTCGG	0.716																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(916-918)gcA>gcC		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						10.0	12.0	11.0					19																	48908443		2163	4229	6392	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908443A>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.918A>C	19.37:g.48908443A>C							p.A306A	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1006	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	306						Silent	SNP	ENST00000263269.3	37	c.918A>C	CCDS12719.1																																																																																				0.716	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			3	13	0	0	0	0.184627	0	3	13				
ZNF135	7694	broad.mit.edu	37	19	58579484	58579484	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:58579484C>A	ENST00000313434.5	+	5	1733	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.H544Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.H556Q|ZNF135_ENST00000506786.1_Missense_Mutation_p.H502Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.H568Q|RN7SL526P_ENST00000469492.2_RNA	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	544					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAGGATCCACACAGGAGAGA	0.532																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1504-1506)caC>caA		zinc finger protein 135							85.0	81.0	83.0					19																	58579484		2203	4298	6501	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579484C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1632C>A	19.37:g.58579484C>A	ENSP00000321406:p.His544Gln					ZNF135_ENST00000401053.4_Missense_Mutation_p.H568Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.H556Q|ZNF135_ENST00000439855.2_Missense_Mutation_p.H544Q|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.H544Q	p.H502Q			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2060	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	556					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1506C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.56|12.56	1.973622|1.973622	0.34848|0.34848	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24;-0.24|.	3.37|3.37	2.32|2.32	0.28847|0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.79003|0.79003	0.4373|0.4373	M|M	0.92784|0.92784	3.345|3.345	0.36276|0.36276	D|D	0.855505|0.855505	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.991|.	D|D	0.84033|0.84033	0.0360|0.0360	9|5	0.87932|.	D|.	0|.	.|.	9.7299|9.7299	0.40355|0.40355	0.0:0.8921:0.0:0.1079|0.0:0.8921:0.0:0.1079	.|.	556;544|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	Q|K	568;544;544;556;502|562	ENSP00000441410:H568Q;ENSP00000444828:H544Q;ENSP00000321406:H544Q;ENSP00000422074:H556Q;ENSP00000427691:H502Q|.	ENSP00000321406:H544Q|.	H|T	+|+	3|2	2|0	ZNF135|ZNF135	63271296|63271296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.047000|0.047000	0.14425|0.14425	3.502000|3.502000	0.53332|0.53332	0.765000|0.765000	0.33221|0.33221	-0.259000|-0.259000	0.10710|0.10710	CAC|ACA		0.532	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		22	79	1	0	2.89027e-11	0.624587	3.46611e-11	22	79				
LRP1B	53353	broad.mit.edu	37	2	141116461	141116461	+	Missense_Mutation	SNP	C	C	G	rs145962775		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141116461C>G	ENST00000389484.3	-	73	12157	c.11186G>C	c.(11185-11187)tGc>tCc	p.C3729S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3729	LDL-receptor class A 31. {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)		CGACTGTAGGCATATTCTGTT	0.383										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.(11185-11187)tGc>tCc		low density lipoprotein receptor-related protein 1B							167.0	150.0	156.0					2																	141116461		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141116461C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11186G>C	2.37:g.141116461C>G	ENSP00000374135:p.Cys3729Ser	TSP Lung(27;0.18)					p.C3729S	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)	73	12157	-		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)	3729			LDL-receptor class A 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11186G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014852	0.75161	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.68025	-0.3	5.46	5.46	0.80206	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.89691	0.6788	H	0.99042	4.41	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	D	0.93713	0.7026	10	0.87932	D	0	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	3729	Q9NZR2	LRP1B_HUMAN	S	3729;3667	ENSP00000374135:C3729S	ENSP00000374135:C3729S	C	-	2	0	LRP1B	140832931	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.947000	0.75959	2.563000	0.86464	0.591000	0.81541	TGC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		48	123	0	0	0	0.864702	0	48	123				
NT5C2	22978	broad.mit.edu	37	10	104860861	104860861	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:104860861T>C	ENST00000404739.3	-	6	505		c.e6-2		NT5C2_ENST00000423468.2_Splice_Site|NT5C2_ENST00000343289.5_Splice_Site|NT5C2_ENST00000369857.4_Splice_Site			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTAGGTCTCTGAAAAATGAA	0.308																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.e7-2		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						48.0	54.0	52.0					10																	104860861		2200	4298	6498	SO:0001630	splice_region_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104860861T>C	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.482-2A>G	10.37:g.104860861T>C						NT5C2_ENST00000404739.3_Splice_Site|NT5C2_ENST00000369857.4_Splice_Site|NT5C2_ENST00000423468.2_Splice_Site		NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	7	569	-		all_hematologic(284;0.176)|Colorectal(252;0.178)						B7Z382|D3DR91|Q5JUV5	Splice_Site	SNP	ENST00000404739.3	37		CCDS7544.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814386	0.70912	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NT5C2	104850851	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.825000	0.86693	2.371000	0.80710	0.533000	0.62120	.		0.308	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	Intron	15	52	0	0	0	0.500413	0	15	52				
FAM47B	170062	broad.mit.edu	37	X	34962575	34962575	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:34962575C>A	ENST00000329357.5	+	1	1663	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TAGTGCACAGCGTGGGAGGAT	0.498																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1627-1629)Cgt>Agt		family with sequence similarity 47, member B							100.0	88.0	92.0					X																	34962575		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962575C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1627C>A	X.37:g.34962575C>A	ENSP00000328307:p.Arg543Ser						p.R543S	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1663	+			543					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1627C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.370197	0.01225	.	.	ENSG00000189132	ENST00000329357	T	0.40756	1.02	0.602	-1.2	0.09554	.	.	.	.	.	T	0.27169	0.0666	L	0.55990	1.75	0.09310	N	1	P	0.34780	0.468	B	0.26094	0.066	T	0.10730	-1.0617	8	0.44086	T	0.13	.	.	.	.	.	543	Q8NA70	FA47B_HUMAN	S	543	ENSP00000328307:R543S	ENSP00000328307:R543S	R	+	1	0	FAM47B	34872496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.064000	0.01387	-2.607000	0.00447	-2.294000	0.00264	CGT		0.498	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		45	53	1	0	8.05343e-35	0.840704	1.07723e-34	45	53				
GMPPA	29926	broad.mit.edu	37	2	220369977	220369977	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:220369977G>A	ENST00000358215.3	+	8	1017	c.648G>A	c.(646-648)ggG>ggA	p.G216G	GMPPA_ENST00000341142.3_Silent_p.G216G|GMPPA_ENST00000373917.3_Silent_p.G216G|GMPPA_ENST00000373908.1_Silent_p.G216G|GMPPA_ENST00000313597.5_Silent_p.G216G|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	216					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGTGGCCAGGGGCAGGTACCA	0.577																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(646-648)ggG>ggA		GDP-mannose pyrophosphorylase A							63.0	63.0	63.0					2																	220369977		2203	4300	6503	SO:0001819	synonymous_variant	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220369977G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.648G>A	2.37:g.220369977G>A						GMPPA_ENST00000341142.3_Silent_p.G216G|GMPPA_ENST00000373917.3_Silent_p.G216G|GMPPA_ENST00000313597.5_Silent_p.G216G|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.G216G	p.G216G	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	8	1017	+		Renal(207;0.0183)	216					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Silent	SNP	ENST00000358215.3	37	c.648G>A	CCDS2441.1																																																																																				0.577	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		7	52	0	0	0	0.278610	0	7	52				
HERC4	26091	broad.mit.edu	37	10	69695987	69695987	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:69695987T>A	ENST00000395198.3	-	23	2848	c.2601A>T	c.(2599-2601)acA>acT	p.T867T	HERC4_ENST00000412272.2_Silent_p.T789T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.T757T|HERC4_ENST00000373700.4_Silent_p.T859T	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	867	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGTTTTCAACTGTGATCtatt	0.284																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(2599-2601)acA>acT		HECT and RLD domain containing E3 ubiquitin protein ligase 4							110.0	104.0	106.0					10																	69695987		2203	4300	6503	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69695987T>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2601A>T	10.37:g.69695987T>A						HERC4_ENST00000412272.2_Silent_p.T789T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.T757T|HERC4_ENST00000373700.4_Silent_p.T859T	p.T867T	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			23	2848	-			867			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.2601A>T	CCDS41533.1																																																																																				0.284	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		48	171	0	0	0	0.870114	0	48	171				
USP2	9099	broad.mit.edu	37	11	119243870	119243870	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119243870G>T	ENST00000260187.2	-	2	615	c.321C>A	c.(319-321)ctC>ctA	p.L107L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	107	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCCCCCGCTGAGGCCACTGC	0.637																																						ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(319-321)ctC>ctA		ubiquitin specific peptidase 2							81.0	90.0	87.0					11																	119243870		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243870G>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.321C>A	11.37:g.119243870G>T						RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.L107L	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	615	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	107			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.321C>A	CCDS8422.1																																																																																				0.637	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		32	207	1	0	2.08457e-15	0.750413	2.62036e-15	32	207				
DCBLD2	131566	broad.mit.edu	37	3	98520447	98520447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:98520447C>G	ENST00000326840.6	-	14	2079	c.1717G>C	c.(1717-1719)Gca>Cca	p.A573P	DCBLD2_ENST00000326857.9_Missense_Mutation_p.A573P	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	573					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGTTACCTGCCCGGTCCCAG	0.458																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1717-1719)Gca>Cca		discoidin, CUB and LCCL domain containing 2							61.0	64.0	63.0					3																	98520447		1884	4112	5996	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98520447C>G		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1717G>C	3.37:g.98520447C>G	ENSP00000321573:p.Ala573Pro					DCBLD2_ENST00000326857.9_Missense_Mutation_p.A573P	p.A573P	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			14	2079	-			573					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1717G>C	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006996	0.74932	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;D	0.91843	1.53;-2.92	5.41	4.54	0.55810	.	0.054480	0.64402	D	0.000001	D	0.93700	0.7987	L	0.54323	1.7	0.53005	D	0.999964	D;P	0.76494	0.999;0.857	D;B	0.71184	0.972;0.399	D	0.91827	0.5472	10	0.25751	T	0.34	.	12.2239	0.54449	0.0:0.9167:0.0:0.0833	.	573;573	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	P	573	ENSP00000321573:A573P;ENSP00000321646:A573P	ENSP00000321573:A573P	A	-	1	0	DCBLD2	100003137	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.849000	0.62882	1.427000	0.47276	-0.136000	0.14681	GCA		0.458	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		10	19	0	0	0	0.361761	0	10	19				
ACTN4	81	broad.mit.edu	37	19	39215092	39215092	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:39215092C>T	ENST00000252699.2	+	16	1973	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	ACTN4_ENST00000424234.2_Missense_Mutation_p.R243W|ACTN4_ENST00000390009.3_Missense_Mutation_p.R414W	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	633					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCCAAAACGGGACCATGC	0.687																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1897-1899)Cgg>Tgg		actinin, alpha 4							39.0	40.0	39.0					19																	39215092		2202	4300	6502	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39215092C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1897C>T	19.37:g.39215092C>T	ENSP00000252699:p.Arg633Trp					ACTN4_ENST00000390009.3_Missense_Mutation_p.R414W|ACTN4_ENST00000424234.2_Missense_Mutation_p.R243W	p.R633W	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		16	1973	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		633					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1897C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615815	0.46631	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	3.75	1.44	0.22558	.	0.000000	0.64402	D	0.000002	D	0.89767	0.6810	M	0.90252	3.1	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.89487	0.3754	10	0.87932	D	0	.	10.785	0.46401	0.6272:0.3728:0.0:0.0	.	633	O43707	ACTN4_HUMAN	W	633;243;414;69	ENSP00000252699:R633W;ENSP00000411187:R243W;ENSP00000439497:R414W;ENSP00000398393:R69W	ENSP00000252699:R633W	R	+	1	2	ACTN4	43906932	0.105000	0.21958	0.988000	0.46212	0.946000	0.59487	-0.539000	0.06113	0.328000	0.23435	0.561000	0.74099	CGG		0.687	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			7	33	0	0	0	0.248553	0	7	33				
PLD5	200150	broad.mit.edu	37	1	242277263	242277263	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:242277263T>A	ENST00000536534.2	-	7	1240	c.999A>T	c.(997-999)atA>atT	p.I333I	PLD5_ENST00000427495.1_Silent_p.I271I|PLD5_ENST00000442594.2_Silent_p.I241I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	333						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCATCATCTATCACACTGT	0.433																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(721-723)atA>atT		phospholipase D family, member 5							181.0	140.0	154.0					1																	242277263		2203	4300	6503	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242277263T>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.999A>T	1.37:g.242277263T>A						PLD5_ENST00000536534.1_Silent_p.I333I|PLD5_ENST00000427495.1_Silent_p.I271I	p.I241I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		8	1232	-	Melanoma(84;0.242)		333			PLD phosphodiesterase 1.		A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.723A>T	CCDS1621.2																																																																																				0.433	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		49	127	0	0	0	0.870114	0	49	127				
SLIT2	9353	broad.mit.edu	37	4	20618727	20618727	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:20618727C>A	ENST00000504154.1	+	35	4294	c.4042C>A	c.(4042-4044)Ccc>Acc	p.P1348T	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1344T|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1340T|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1361T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1348	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CACATGCCAGCCCAGCAGCCA	0.577																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(4042-4044)Ccc>Acc		slit homolog 2 (Drosophila)							55.0	55.0	55.0					4																	20618727		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618727C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4042C>A	4.37:g.20618727C>A	ENSP00000422591:p.Pro1348Thr					SLIT2_ENST00000503823.1_Missense_Mutation_p.P1340T|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1361T|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1344T	p.P1348T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4294	+			1348			EGF-like 7.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4042C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652065	0.47362	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80738	-1.4;-1.41;-1.34;-1.37	5.94	4.18	0.49190	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.157102	0.56097	D	0.000022	T	0.74801	0.3764	L	0.43152	1.355	0.40349	D	0.979119	B;B	0.33512	0.234;0.415	B;B	0.36922	0.127;0.236	T	0.71009	-0.4716	10	0.15952	T	0.53	.	15.2805	0.73781	0.0:0.3933:0.6067:0.0	.	1340;1348	O94813-3;O94813	.;SLIT2_HUMAN	T	1340;1348;1361;1344;1344	ENSP00000427548:P1340T;ENSP00000422591:P1348T;ENSP00000273739:P1361T;ENSP00000422261:P1344T	ENSP00000273739:P1361T	P	+	1	0	SLIT2	20227825	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.849000	0.55910	1.484000	0.48361	0.650000	0.86243	CCC		0.577	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			11	34	1	0	3.86212e-05	0.361761	4.18285e-05	11	34				
IGHG1	3500	broad.mit.edu	37	14	106208278	106208278	+	RNA	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:106208278T>A	ENST00000390548.2	-	0	621							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGGCTTTGTTGGAGACCTTG	0.622																																						ENST00000390548.2																			0																				249.0	248.0	248.0					14																	106208278		2148	4245	6393			3500							g.chr14:106208278T>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208278T>A														0	621	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.622	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		45	339	0	0	0	0.870114	0	45	339				
HIST1H1C	3006	broad.mit.edu	37	6	26056327	26056327	+	Missense_Mutation	SNP	C	C	A	rs557155387	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:26056327C>A	ENST00000343677.2	-	1	372	c.330G>T	c.(328-330)aaG>aaT	p.K110N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	110					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGAGGCTGCCTTCTTGTTGA	0.567																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(328-330)aaG>aaT		histone cluster 1, H1c							78.0	86.0	83.0					6																	26056327		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056327C>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.330G>T	6.37:g.26056327C>A	ENSP00000339566:p.Lys110Asn						p.K110N	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	372	-			110					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.330G>T	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731903	0.69189	.	.	ENSG00000187837	ENST00000343677	T	0.12039	2.72	5.54	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.168906	0.36519	N	0.002544	T	0.20536	0.0494	M	0.72118	2.19	0.53005	D	0.999969	D	0.56035	0.974	P	0.58577	0.841	T	0.01405	-1.1363	10	0.87932	D	0	-6.5339	12.0984	0.53769	0.0:0.8552:0.0:0.1448	.	110	P16403	H12_HUMAN	N	110	ENSP00000339566:K110N	ENSP00000339566:K110N	K	-	3	2	HIST1H1C	26164306	0.974000	0.33945	1.000000	0.80357	0.741000	0.42261	0.827000	0.27421	1.477000	0.48234	0.655000	0.94253	AAG		0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		9	200	1	0	1.12685e-05	0.307466	1.2463e-05	9	200				
TECTA	7007	broad.mit.edu	37	11	121016545	121016545	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:121016545C>A	ENST00000392793.1	+	12	4096	c.3825C>A	c.(3823-3825)acC>acA	p.T1275T	TECTA_ENST00000264037.2_Silent_p.T1275T|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1275	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGGGACACCTTCTGCCAGG	0.592																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3823-3825)acC>acA		tectorin alpha							141.0	126.0	131.0					11																	121016545		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016545C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3825C>A	11.37:g.121016545C>A						TECTA_ENST00000264037.2_Silent_p.T1275T|TECTA_ENST00000478058.1_3'UTR	p.T1275T			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	4096	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1275			VWFD 3.			Silent	SNP	ENST00000392793.1	37	c.3825C>A	CCDS8434.1																																																																																				0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		52	158	1	0	1.81118e-26	0.870114	2.39198e-26	52	158				
EIF4EBP1	1978	broad.mit.edu	37	8	37914778	37914778	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:37914778G>T	ENST00000338825.4	+	2	558	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	109					cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)			endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GCGGGCGGGCGGTGAGTGTCG	0.622																																					Melanoma(144;549 1821 15133 20335 46806)	ENST00000338825.4																			0				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4						c.e2+1		eukaryotic translation initiation factor 4E binding protein 1							30.0	34.0	32.0					8																	37914778		2203	4300	6503	SO:0001630	splice_region_variant	1978				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		g.chr8:37914778G>T		CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"""phosphorylated heat- and acid-stable protein regulated by insulin 1"""	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.325+1G>T	8.37:g.37914778G>T						EIF4EBP1_ENST00000520657.1_3'UTR	p.G109_splice	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN			2	558	+	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	109					B2R502|D3DSW8|Q6IBN3	Splice_Site	SNP	ENST00000338825.4	37	c.325_splice	CCDS6100.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678983	0.29783	.	.	ENSG00000187840	ENST00000338825	.	.	.	4.89	1.4	0.22301	.	0.301229	0.28630	N	0.014664	T	0.68026	0.2956	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.67480	-0.5660	9	0.59425	D	0.04	-18.0991	5.1747	0.15129	0.2428:0.1678:0.5894:0.0	.	109	Q13541	4EBP1_HUMAN	C	109	.	ENSP00000340691:G109C	G	+	1	0	EIF4EBP1	38033935	0.826000	0.29277	0.796000	0.32109	0.096000	0.18686	0.629000	0.24538	1.057000	0.40506	-0.463000	0.05309	GGT		0.622	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376743.1	NM_004095	Missense_Mutation	25	106	1	0	2.79863e-10	0.681144	3.3434e-10	25	106				
SLC4A11	83959	broad.mit.edu	37	20	3209785	3209785	+	Silent	SNP	G	G	A	rs374263457		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:3209785G>A	ENST00000380056.3	-	15	2069	c.2022C>T	c.(2020-2022)atC>atT	p.I674I	SLC4A11_ENST00000380059.3_Silent_p.I701I|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Silent_p.I658I	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	674	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTTCTGCTCGATGAAGAAGA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2101-2103)atC>atT		solute carrier family 4, sodium borate transporter, member 11		G	,,	1,4405	2.1+/-5.4	0,1,2202	41.0	40.0	40.0		1974,2103,2022	-8.5	0.7	20		40	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	658/876,701/919,674/892	3209785	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209785G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2022C>T	20.37:g.3209785G>A						SLC4A11_ENST00000380056.3_Silent_p.I674I|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.I658I	p.I701I	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			16	2204	-			674			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2103C>T	CCDS13052.1																																																																																				0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			12	77	0	0	0	0.387290	0	12	77				
DACH2	117154	broad.mit.edu	37	X	86068180	86068180	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:86068180G>T	ENST00000373125.4	+	9	1437	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	DACH2_ENST00000508860.1_Missense_Mutation_p.Q312H|DACH2_ENST00000373131.1_Missense_Mutation_p.Q466H|DACH2_ENST00000510272.1_Missense_Mutation_p.Q260H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	479	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGAGAAGCAGATTCAACAAG	0.408																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1396-1398)caG>caT		dachshund homolog 2 (Drosophila)							38.0	36.0	36.0					X																	86068180		2201	4300	6501	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068180G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1437G>T	X.37:g.86068180G>T	ENSP00000362217:p.Gln479His					DACH2_ENST00000510272.1_Missense_Mutation_p.Q260H|DACH2_ENST00000373125.4_Missense_Mutation_p.Q479H|DACH2_ENST00000508860.1_Missense_Mutation_p.Q312H|DACH2_ENST00000477378.2_3'UTR	p.Q466H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			8	1561	+			479			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1398G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520043	0.64747	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88124	-2.3;-2.34	5.19	4.31	0.51392	.	0.000000	0.64402	D	0.000003	D	0.91740	0.7388	M	0.77616	2.38	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.999;0.999;0.994;0.995	D	0.89862	0.4017	10	0.40728	T	0.16	.	7.9837	0.30198	0.0821:0.0:0.7574:0.1606	.	345;479;466;479	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	H	479;466;479;312;260;312;144	ENSP00000362223:Q466H;ENSP00000362217:Q479H	ENSP00000345134:Q479H	Q	+	3	2	DACH2	85954836	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.290000	0.72712	0.934000	0.37316	0.513000	0.50165	CAG		0.408	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	11	1	0	2.17888e-05	0.335167	2.36802e-05	9	11				
BMP8B	656	broad.mit.edu	37	1	40229411	40229411	+	Nonsense_Mutation	SNP	G	G	T	rs373371425		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:40229411G>T	ENST00000372827.3	-	5	1296	c.921C>A	c.(919-921)taC>taA	p.Y307*	PPIE_ENST00000356511.2_Silent_p.T296T|PPIE_ENST00000372830.1_3'UTR|BMP8B_ENST00000397360.2_Nonsense_Mutation_p.Y332*	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	307					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAAGCTGACGTAGAGCTCGT	0.562																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(919-921)taC>taA		bone morphogenetic protein 8b							72.0	74.0	73.0					1																	40229411		2203	4299	6502	SO:0001587	stop_gained	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40229411G>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.921C>A	1.37:g.40229411G>T	ENSP00000361915:p.Tyr307*					PPIE_ENST00000356511.2_Silent_p.T296T|BMP8B_ENST00000397360.2_Nonsense_Mutation_p.Y332*|PPIE_ENST00000372830.1_3'UTR	p.Y307*	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	1296	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	307					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Nonsense_Mutation	SNP	ENST00000372827.3	37	c.921C>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	G	38	6.708910	0.97780	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	.	.	.	4.02	-5.73	0.02398	.	0.069305	0.64402	U	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9245	0.41483	0.6972:0.1165:0.1862:0.0	.	.	.	.	X	307;332	.	.	Y	-	3	2	BMP8B	40001998	0.951000	0.32395	0.837000	0.33122	0.996000	0.88848	0.042000	0.13949	-1.479000	0.01867	-0.155000	0.13514	TAC		0.562	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		106	61	1	0	4.60726e-43	0.870114	6.21583e-43	106	61				
RNLS	55328	broad.mit.edu	37	10	90122454	90122454	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:90122454C>T	ENST00000331772.4	-	5	577	c.555G>A	c.(553-555)ctG>ctA	p.L185L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L102L|RNLS_ENST00000371947.3_Silent_p.L185L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	185					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCACAGCCTCCAGTTGCTGCC	0.408																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(553-555)ctG>ctA		renalase, FAD-dependent amine oxidase							79.0	74.0	76.0					10																	90122454		2203	4300	6503	SO:0001819	synonymous_variant	55328					extracellular region	oxidoreductase activity	g.chr10:90122454C>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.555G>A	10.37:g.90122454C>T						RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.L185L|RNLS_ENST00000437752.1_Silent_p.L102L	p.L185L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	1894	-			185					Q9BS33|Q9NUP8	Silent	SNP	ENST00000331772.4	37	c.555G>A	CCDS31239.1																																																																																				0.408	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		18	51	0	0	0	0.624587	0	18	51				
PCSK5	5125	broad.mit.edu	37	9	78749092	78749092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:78749092G>A	ENST00000545128.1	+	10	1814	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	PCSK5_ENST00000376767.3_Missense_Mutation_p.A426T|PCSK5_ENST00000376752.4_Missense_Mutation_p.A426T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	426	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACATTTGAACGCTAATGACTG	0.418																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1276-1278)Gct>Act		proprotein convertase subtilisin/kexin type 5							130.0	119.0	123.0					9																	78749092		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78749092G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1276G>A	9.37:g.78749092G>A	ENSP00000446280:p.Ala426Thr					PCSK5_ENST00000376767.3_Missense_Mutation_p.A426T|PCSK5_ENST00000376752.4_Missense_Mutation_p.A426T	p.A426T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			10	1814	+			426			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1276G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354897	0.95854	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.65	5.65	0.86999	.	0.047615	0.85682	D	0.000000	T	0.69931	0.3166	N	0.21324	0.655	0.80722	D	1	P;P	0.49635	0.899;0.926	B;B	0.37047	0.24;0.231	T	0.72257	-0.4346	10	0.38643	T	0.18	-15.7797	20.0781	0.97751	0.0:0.0:1.0:0.0	.	426;426	Q92824-2;B1AMG5	.;.	T	426;129;426;426;426;99	ENSP00000446280:A426T;ENSP00000365958:A426T;ENSP00000365943:A426T;ENSP00000411654:A99T	ENSP00000365943:A426T	A	+	1	0	PCSK5	77938912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.536000	0.82023	2.817000	0.96982	0.563000	0.77884	GCT		0.418	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	140	0	0	0	0.307466	0	6	140				
ROCK2	9475	broad.mit.edu	37	2	11332363	11332363	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11332363delA	ENST00000315872.6	-	32	4522	c.4074delT	c.(4072-4074)tttfs	p.F1358fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.F1115fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1358					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATGATCGGGCAAAAGGGTCTG	0.433																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(4072-4074)ttfs		Rho-associated, coiled-coil containing protein kinase 2							161.0	154.0	156.0					2																	11332363		1812	4073	5885	SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332363delA	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4074delT	2.37:g.11332363delA	ENSP00000317985:p.Phe1358fs					ROCK2_ENST00000401753.1_Frame_Shift_Del_p.F1115fs	p.F1358fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	32	4522	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1358					Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.4074delT	CCDS42654.1																																																																																				0.433	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	406						7	406	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	lincRNA	DEL	T	T	-	rs57565986	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:106824710delT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatcttttttttttt	0.448													|||unknown(HR)	3314	0.661741	0.6672	0.6138	5008	,	,		17759	0.6111		0.67	False		,,,				2504	0.7321					ENST00000484698.1																			0																																																			100302640							g.chr3:106824710delT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824710delT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.448	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			4	7						4	7	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122437687	122437688	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:122437687_122437688insA	ENST00000474629.2	+	14	4955_4956	c.4689_4690insA	c.(4690-4692)aaafs	p.K1564fs	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1564	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAGAGAAAAGAAAAAAACAGT	0.366																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4687-4692)aaaaaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437687_122437688insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4696dupA	3.37:g.122437694_122437694dupA	ENSP00000418194:p.Lys1564fs					PARP14_ENST00000475640.1_3'UTR	p.KK1563fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4955_4956	+			1563			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.4689_4690insA	CCDS46894.1																																																																																				0.366	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		27	164						27	164	---	---	---	---
PBX2	5089	broad.mit.edu	37	6	32155057	32155058	+	Frame_Shift_Ins	INS	-	-	G	rs376462410		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:32155057_32155058insG	ENST00000375050.4	-	6	1255_1256	c.985_986insC	c.(985-987)cacfs	p.H329fs	AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375076.4_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	329					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGTGCGGCTGTGGCCCCCCTGG	0.559																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(985-987)cagfs		pre-B-cell leukemia homeobox 2																																				SO:0001589	frameshift_variant	5089						transcription factor binding	g.chr6:32155057_32155058insG		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.986dupC	6.37:g.32155059_32155059dupG	ENSP00000364190:p.His329fs						p.Q329fs	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			6	1255_1256	-			329					A2BFJ2	Frame_Shift_Ins	INS	ENST00000375050.4	37	c.985_986insC	CCDS4748.1																																																																																				0.559	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			17	106						17	106	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48761806	48761807	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:48761806_48761807delAG	ENST00000314191.2	-	55	7241_7242	c.7185_7186delCT	c.(7183-7188)ctctgtfs	p.C2396fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.C2396fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2397					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCTCCAGACAGAGTGTTTTCA	0.495								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7183-7188)ctgtfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761806_48761807delAG		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7185_7186delCT	8.37:g.48761808_48761809delAG	ENSP00000313420:p.Cys2396fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.LC2395fs|PRKDC_ENST00000523565.1_5'UTR	p.LC2395fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			55	7241_7242	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2396					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.7185_7186delCT																																																																																					0.495	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	256						7	256	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065041	55065041	+	RNA	DEL	A	A	-	rs79440813		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55065041delA	ENST00000526016.1	-	0	384					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ATTTTTTTTTAGGAGCTCCTC	0.393																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065041delA			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065041delA								NR_038174.2						0	384	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.393	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			30	75						30	75	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67052434	67052435	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67052434_67052435insG	ENST00000308595.5	+	19	2061_2062	c.1771_1772insG	c.(1771-1773)cggfs	p.R591fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCGAGTGGCGGGGCGAGGGC	0.688																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1771-1773)gggfs		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052434_67052435insG	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1775dupG	11.37:g.67052438_67052438dupG	ENSP00000312262:p.Arg591fs					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.G591fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		19	2061_2062	+			591			PH.		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Ins	INS	ENST00000308595.5	37	c.1771_1772insG	CCDS8156.1																																																																																				0.688	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		7	65						7	65	---	---	---	---
FGF23	8074	broad.mit.edu	37	12	4479556	4479557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479556_4479557insA	ENST00000237837.1	-	3	853_854	c.708_709insT	c.(706-711)gctgggfs	p.G237fs		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	237					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCGTTCCCCCAGCGTGCGTGT	0.649																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(706-711)gcggggfs		fibroblast growth factor 23																																				SO:0001589	frameshift_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479556_4479557insA	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.709dupT	12.37:g.4479557_4479557dupA	ENSP00000237837:p.Gly237fs						p.AG236fs	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	853_854	-			236					Q4V758	Frame_Shift_Ins	INS	ENST00000237837.1	37	c.708_709insT	CCDS8526.1																																																																																				0.649	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			31	128						31	128	---	---	---	---
DAZAP2	9802	broad.mit.edu	37	12	51634685	51634686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:51634685_51634686insC	ENST00000412716.3	+	3	779_780	c.163_164insC	c.(163-165)gctfs	p.A55fs	DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Frame_Shift_Ins_p.A55fs|DAZAP2_ENST00000604900.1_Frame_Shift_Ins_p.A55fs|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Frame_Shift_Ins_p.A55fs|DAZAP2_ENST00000425012.2_Frame_Shift_Ins_p.A55fs|DAZAP2_ENST00000439799.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	55	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCACCCAGGGGCTGCCACAGTC	0.51																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(163-165)tgcfs		DAZ associated protein 2																																				SO:0001589	frameshift_variant	9802						WW domain binding	g.chr12:51634685_51634686insC	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.164dupC	12.37:g.51634686_51634686dupC	ENSP00000394699:p.Ala55fs					DAZAP2_ENST00000449723.3_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000425012.2_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000549555.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000604900.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000439799.2_Intron	p.C55fs			Q15038	DAZP2_HUMAN			3	779_780	+			55			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Frame_Shift_Ins	INS	ENST00000412716.3	37	c.163_164insC	CCDS8809.1																																																																																				0.510	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		11	174						11	174	---	---	---	---
LOC100507377	100507377	broad.mit.edu	37	12	74668971	74668971	+	lincRNA	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:74668971delG	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_lincRNA																							CCAGGTCGATGGGAAAAGATT	0.448																																						ENST00000515416.2																			0																																																			100507377							g.chr12:74668971delG																													12.37:g.74668971delG						RP11-274M17.3_ENST00000552046.1_RNA								0	464	-									RNA	DEL	ENST00000515416.2	37																																																																																						0.448	RP11-81H3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405900.1			14	44						14	44	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														55592							g.chr12:100562920_100562921insT																													12.37:g.100562931_100562931dupT								NR_036632.1						0	599	-								Q9NSV2	RNA	INS	ENST00000397112.4	37																																																																																						0.406	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			2	4						2	4	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	82664400	82664400	+	RNA	DEL	T	T	-	rs200314743	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:82664400delT	ENST00000420908.3	+	0	233					NR_004847.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2																		AACAAAAATCTTTTTTTTTTT	0.308													|||unknown(NO_COVERAGE)	2821	0.563299	0.4244	0.6081	5008	,	,		9793	0.497		0.6869	False		,,,				2504	0.6605					ENST00000420908.3																			0																																																			100134869							g.chr15:82664400delT	BC066934		15q25.2	2014-04-10	2009-12-17	2009-12-17	ENSG00000225273	ENSG00000259429			37440	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 2"", ""ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3"""	UBE2QP2, UBE2Q2P3			Standard	NR_004847		Approved		uc002bgz.3		OTTHUMG00000172604		15.37:g.82664400delT								NR_004847.2						0	233	+									RNA	DEL	ENST00000420908.3	37																																																																																						0.308	UBE2Q2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419405.1	NR_004847		5	1						5	1	---	---	---	---
CCL8	6355	broad.mit.edu	37	17	32647835	32647835	+	Frame_Shift_Del	DEL	G	G	-	rs369844009		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:32647835delG	ENST00000394620.1	+	3	675	c.209delG	c.(208-210)cggfs	p.R70fs		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	70					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AAGACCAAACGGGGCAAGGAG	0.502																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(208-210)cgfs		chemokine (C-C motif) ligand 8							73.0	62.0	65.0					17																	32647835		2203	4300	6503	SO:0001589	frameshift_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647835delG	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.209delG	17.37:g.32647835delG	ENSP00000378118:p.Arg70fs						p.R70fs	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			3	675	+		Ovarian(249;0.0443)|Breast(31;0.151)	70					A0AV77|P78388	Frame_Shift_Del	DEL	ENST00000394620.1	37	c.209delG	CCDS11280.1																																																																																				0.502	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		7	71						7	71	---	---	---	---
TBC1D3	729873	broad.mit.edu	37	17	36358976	36358977	+	5'Flank	INS	-	-	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:36358976_36358977insT	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000544906.1_Frame_Shift_Ins_p.P84fs|RP11-1407O15.2_ENST00000312412.4_Frame_Shift_Ins_p.P239fs			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGTAACAGGTGTGCGGGCAA	0.366																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(712-717)acctgtfs																																						SO:0001631	upstream_gene_variant	101929950							g.chr17:36358976_36358977insT		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358977_36358977dupT	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Frame_Shift_Ins_p.C84fs	p.C239fs							6	713_714	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Frame_Shift_Ins	INS	ENST00000537432.1	37	c.714_715insA	CCDS45658.1																																																																																				0.366	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		20	514						20	514	---	---	---	---
ASB16	92591	broad.mit.edu	37	17	42254108	42254109	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:42254108_42254109delGC	ENST00000293414.1	+	3	656_657	c.572_573delGC	c.(571-573)tgcfs	p.C191fs	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	191					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCCCCAGGTGCGCCAAGTTGC	0.639																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(571-573)tfs		ankyrin repeat and SOCS box containing 16																																				SO:0001589	frameshift_variant	92591				intracellular signal transduction		protein binding	g.chr17:42254108_42254109delGC	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.572_573delGC	17.37:g.42254110_42254111delGC	ENSP00000293414:p.Cys191fs					ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	p.C191fs	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	656_657	+		Breast(137;0.00765)|Prostate(33;0.0313)	191					B2RBC0|Q8WXK0	Frame_Shift_Del	DEL	ENST00000293414.1	37	c.572_573delGC	CCDS11478.1																																																																																				0.639	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			48	146						48	146	---	---	---	---
FPR1	2357	broad.mit.edu	37	19	52249531	52249531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:52249531delG	ENST00000595042.1	-	3	858	c.717delC	c.(715-717)cccfs	p.P239fs	FPR1_ENST00000304748.4_Frame_Shift_Del_p.P239fs	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	239					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGACCCGTAAGGGACGACTGG	0.512																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(715-717)ccfs		formyl peptide receptor 1	Nedocromil(DB00716)						85.0	77.0	80.0					19																	52249531		2203	4300	6503	SO:0001589	frameshift_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249531delG	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.717delC	19.37:g.52249531delG	ENSP00000471493:p.Pro239fs					FPR1_ENST00000304748.4_Frame_Shift_Del_p.P239fs	p.P239fs	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	858	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	239					Q14939|Q7Z6A4|Q86U52|Q9NS48	Frame_Shift_Del	DEL	ENST00000595042.1	37	c.717delC	CCDS12839.1																																																																																				0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		27	89						27	89	---	---	---	---
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492089	34492090	+	lincRNA	INS	-	-	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:34492089_34492090insT	ENST00000412218.1	+	0	114																											ctgccttgctgtttTTTTTTGT	0.366																																						ENST00000412218.1																			0																																																			105373010							g.chr22:34492089_34492090insT																													22.37:g.34492098_34492098dupT														0	114	+									RNA	INS	ENST00000412218.1	37																																																																																						0.366	LL22NC03-86D4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320580.3			2	4						2	4	---	---	---	---
