#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRKCZ	5590	broad.mit.edu	37	1	2103541	2103541	+	Missense_Mutation	SNP	G	G	A	rs147033679		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:2103541G>A	ENST00000400921.2	+	9	1243	c.560G>A	c.(559-561)aGg>aAg	p.R187K	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.R187K	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	370					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R370K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CTGCACGAGAGGGGGATCATC	0.627																																						uc001aiq.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(4)|large_intestine(2)	6						c.(1108-1110)AGG>AAG		protein kinase C, zeta isoform 1							86.0	66.0	73.0					1																	2103541		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2103541G>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.560G>A	1.37:g.2103541G>A	ENSP00000383712:p.Arg187Lys					PRKCZ_uc001air.2_Missense_Mutation_p.R187K|PRKCZ_uc010nyw.1_Missense_Mutation_p.R266K|PRKCZ_uc001ais.2_Missense_Mutation_p.R187K|PRKCZ_uc009vla.2_Missense_Mutation_p.R194K|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.R218K	p.R370K	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	12	1270	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	370			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.1109G>A	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	5.591	0.293761	0.10567	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.11	3.24	0.37175	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098144	0.64402	N	0.000002	T	0.32526	0.0832	N	0.03071	-0.42	0.37798	D	0.927592	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.14578	0.007;0.008;0.011;0.011	T	0.10154	-1.0642	10	0.14656	T	0.56	.	9.2366	0.37470	0.1782:0.0:0.8218:0.0	.	266;194;266;370	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	K	370;187;266;187	ENSP00000367830:R370K;ENSP00000383712:R187K;ENSP00000426412:R266K;ENSP00000383711:R187K	ENSP00000367830:R370K	R	+	2	0	PRKCZ	2093401	1.000000	0.71417	0.959000	0.39883	0.897000	0.52465	5.797000	0.69087	0.661000	0.30985	0.561000	0.74099	AGG		0.627	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		9	81	0	0	0	0	9	81				
MAP3K6	9064	broad.mit.edu	37	1	27690423	27690423	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:27690423G>A	ENST00000493901.1	-	6	1088	c.849C>T	c.(847-849)tcC>tcT	p.S283S	MAP3K6_ENST00000374040.3_Silent_p.S275S|MAP3K6_ENST00000357582.2_Silent_p.S283S	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	283					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.S275S(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCGCGGTAGGAGAGCAGCA	0.607																																						uc001bny.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(847-849)TCC>TCT		mitogen-activated protein kinase kinase kinase							52.0	50.0	51.0					1																	27690423		2203	4300	6503	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27690423G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.849C>T	1.37:g.27690423G>A						MAP3K6_uc009vsw.1_Silent_p.S275S|MAP3K6_uc001bnz.1_5'Flank	p.S283S	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	1098	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	283					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.849C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907213	0.17833	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.29	1.96	0.26148	.	.	.	.	.	T	0.52289	0.1725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42068	-0.9473	4	.	.	.	.	5.4108	0.16346	0.0757:0.2056:0.5862:0.1325	.	.	.	.	L	7	.	.	P	-	2	0	MAP3K6	27563010	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.840000	0.39230	0.607000	0.29982	0.655000	0.94253	CCT		0.607	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		4	32	0	0	0	0	4	32				
SNRNP40	9410	broad.mit.edu	37	1	31754270	31754270	+	Missense_Mutation	SNP	T	T	A	rs188008327		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:31754270T>A	ENST00000263694.4	-	5	623	c.605A>T	c.(604-606)aAt>aTt	p.N202I	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.N202I	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	202					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)	p.N202I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACTTGTGTCATTGAAGGTCAC	0.393																																						uc001bso.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(604-606)AAT>ATT		WD repeat domain 57 (U5 snRNP specific)							166.0	135.0	146.0					1																	31754270		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31754270T>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.605A>T	1.37:g.31754270T>A	ENSP00000263694:p.Asn202Ile					SNRNP40_uc010oge.1_Missense_Mutation_p.N202I	p.N202I	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN			5	651	-			202			WD 4.		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.605A>T	CCDS340.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655176	0.88056	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.60548	0.18;0.18	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.85591	0.1246	10	0.87932	D	0	.	14.834	0.70169	0.0:0.0:0.0:1.0	.	202;202	B4DQJ1;Q96DI7	.;SNR40_HUMAN	I	202	ENSP00000263694:N202I;ENSP00000406841:N202I	ENSP00000263694:N202I	N	-	2	0	SNRNP40	31526857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.925000	0.87563	1.906000	0.55180	0.402000	0.26972	AAT		0.393	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		22	66	0	0	0	0	22	66				
OLFM3	118427	broad.mit.edu	37	1	102290781	102290781	+	Silent	SNP	G	G	A	rs201734752		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:102290781G>A	ENST00000338858.5	-	4	452	c.453C>T	c.(451-453)gaC>gaT	p.D151D	OLFM3_ENST00000370103.4_Silent_p.D131D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Silent_p.D56D|OLFM3_ENST00000359814.3_Silent_p.D151D			Q96PB7	NOE3_HUMAN	olfactomedin 3	151					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)		p.D151D(1)|p.D131D(1)		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)		GCAGGAGCTCGTCCATTTTCT	0.408													g|||	1	0.000199681	0.0	0.0	5008	,	,		17625	0.0		0.001	False		,,,				2504	0.0					uc001duf.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(2)|skin(1)	3						c.(451-453)GAC>GAT		olfactomedin 3							69.0	68.0	68.0					1																	102290781		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102290781G>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.453C>T	1.37:g.102290781G>A						OLFM3_uc001dug.2_Silent_p.D131D|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.D56D|OLFM3_uc001due.2_RNA	p.D151D	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	524	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	151			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.453C>T																																																																																					0.408	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	37	0	0	0	0	4	37				
CD53	963	broad.mit.edu	37	1	111434046	111434046	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:111434046T>A	ENST00000271324.5	+	2	128	c.16T>A	c.(16-18)Ttg>Atg	p.L6M	CD53_ENST00000429072.2_Missense_Mutation_p.L6M	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	6					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CATGAGTAGCTTGAAACTGCT	0.438																																						uc001dzw.2		NA																	0					0						c.(16-18)TTG>ATG		CD53 antigen							304.0	250.0	268.0					1																	111434046		2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111434046T>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.16T>A	1.37:g.111434046T>A	ENSP00000271324:p.Leu6Met					CD53_uc001dzx.2_Missense_Mutation_p.L6M|CD53_uc010owa.1_Missense_Mutation_p.L6M|CD53_uc001dzy.2_Missense_Mutation_p.L6M	p.L6M	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	3	187	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	6			Cytoplasmic (Potential).		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.16T>A	CCDS829.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609513	0.46527	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	T;T	0.26518	3.04;1.73	5.4	1.68	0.24146	.	0.072274	0.56097	D	0.000032	T	0.14787	0.0357	L	0.39566	1.225	0.42909	D	0.994259	P;D	0.59357	0.745;0.985	B;P	0.59703	0.331;0.862	T	0.14144	-1.0483	10	0.38643	T	0.18	.	1.1229	0.01728	0.1497:0.1719:0.1551:0.5232	.	6;6	B4DQB5;P19397	.;CD53_HUMAN	M	6	ENSP00000412250:L6M;ENSP00000271324:L6M	ENSP00000271324:L6M	L	+	1	2	CD53	111235569	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	0.740000	0.26188	0.090000	0.17273	0.528000	0.53228	TTG		0.438	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		6	125	0	0	0	0	6	125				
NBPF10	100132406	broad.mit.edu	37	1	145293473	145293473	+	Missense_Mutation	SNP	C	C	A	rs57489144		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:145293473C>A	ENST00000369339.3	+	3	321	c.68C>A	c.(67-69)aCa>aAa	p.T23K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.T23K|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	294						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T23K(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATCAACGAGACATTGCGCCCC	0.517																																						uc001end.3		NA																	2	Substitution - Missense(2)		kidney(2)		0						c.(67-69)ACA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293473C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.68C>A	1.37:g.145293473C>A	ENSP00000358345:p.Thr23Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.T23K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.T23K	p.T23K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	103	+	all_hematologic(923;0.032)		23					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.68C>A		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.297943	0.00243	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02421	4.3	1.21	-0.139	0.13460	.	.	.	.	.	T	0.00144	0.0004	N	0.00075	-2.25	0.09310	N	1	.	.	.	.	.	.	T	0.36817	-0.9732	7	0.02654	T	1	.	2.1713	0.03850	0.416:0.2945:0.0:0.2895	rs57489144	.	.	.	K	23	ENSP00000345684:T23K	ENSP00000345684:T23K	T	+	2	0	NBPF10	144004830	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.057000	0.14279	-0.596000	0.05821	-1.447000	0.01057	ACA		0.517	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		10	775	1	0	1.15e-07	1.29e-07	10	775				
HRNR	388697	broad.mit.edu	37	1	152192431	152192431	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:152192431A>G	ENST00000368801.2	-	3	1749	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	558					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Y558Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTGGGCCATAGCTGGAAG	0.582																																						uc001ezt.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	skin(2)|ovary(1)	3						c.(1672-1674)TAT>TAC		hornerin							149.0	158.0	155.0					1																	152192431		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192431A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1674T>C	1.37:g.152192431A>G							p.Y558Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1750	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		558			5		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1674T>C	CCDS30859.1																																																																																				0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		30	171	0	0	0	0	30	171				
MNDA	4332	broad.mit.edu	37	1	158815770	158815770	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:158815770T>G	ENST00000368141.4	+	5	1225	c.964T>G	c.(964-966)Tat>Gat	p.Y322D		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	322	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y322D(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AACAATGGTGTATGGGTTGTT	0.323																																						uc001fsz.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|skin(2)	4						c.(964-966)TAT>GAT		myeloid cell nuclear differentiation antigen							65.0	70.0	68.0					1																	158815770		2201	4299	6500	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815770T>G	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.964T>G	1.37:g.158815770T>G	ENSP00000357123:p.Tyr322Asp						p.Y322D	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	1164	+	all_hematologic(112;0.0378)		322			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.964T>G	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.970|4.970	0.180205|0.180205	0.09443|0.09443	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	T|T	0.33865|0.14144	1.39|2.53	4.28|4.28	1.7|1.7	0.24286|0.24286	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|0.228511	.|0.22613	.|N	.|0.057815	T|T	0.11281|0.11281	0.0275|0.0275	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.10636|0.10636	-1.0621|-1.0621	7|10	0.87932|0.17369	D|T	0|0.5	-10.8|-10.8	4.4768|4.4768	0.11748|0.11748	0.1989:0.0:0.2068:0.5943|0.1989:0.0:0.2068:0.5943	.|.	.|322	.|P41218	.|MNDA_HUMAN	G|D	27|322	ENSP00000406800:V27G|ENSP00000357123:Y322D	ENSP00000406800:V27G|ENSP00000357123:Y322D	V|Y	+|+	2|1	0|0	MNDA|MNDA	157082394|157082394	0.238000|0.238000	0.23825|0.23825	0.051000|0.051000	0.19133|0.19133	0.065000|0.065000	0.16274|0.16274	-0.030000|-0.030000	0.12308|0.12308	0.750000|0.750000	0.32877|0.32877	0.533000|0.533000	0.62120|0.62120	GTA|TAT		0.323	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		19	111	0	0	0	0	19	111				
KLHDC8A	55220	broad.mit.edu	37	1	205306589	205306589	+	Missense_Mutation	SNP	C	C	T	rs371516364		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:205306589C>T	ENST00000367156.3	-	9	1807	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.V331M|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.V197M|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.V218M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.V331M	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	331								p.V331M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCTCCCACGGCGAGGAGG	0.592																																						uc001hcf.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(991-993)GTG>ATG		kelch domain containing 8A		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	198.0	176.0	184.0		991	5.4	0.9	1		184	0,8600		0,0,4300	no	missense	KLHDC8A	NM_018203.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	331/351	205306589	1,13005	2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306589C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.991G>A	1.37:g.205306589C>T	ENSP00000356124:p.Val331Met					KLHDC8A_uc010prg.1_Missense_Mutation_p.V218M|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V331M	p.V331M	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	1559	-	Breast(84;0.23)		331					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.991G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770720	0.69992	2.27E-4	0.0	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.43	5.43	0.79202	Kelch-type beta propeller (1);	0.058169	0.64402	D	0.000002	T	0.79088	0.4387	L	0.43152	1.355	0.46609	D	0.999126	D;D	0.71674	0.998;0.982	P;P	0.62014	0.897;0.636	T	0.80683	-0.1273	10	0.87932	D	0	-27.2837	12.2348	0.54510	0.0:0.9213:0.0:0.0787	.	218;331	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	M	331;331;331;218	ENSP00000356123:V331M;ENSP00000356124:V331M;ENSP00000442229:V331M;ENSP00000443447:V218M	ENSP00000356123:V331M	V	-	1	0	KLHDC8A	203573212	0.969000	0.33509	0.949000	0.38748	0.512000	0.34134	2.325000	0.43840	2.539000	0.85634	0.591000	0.81541	GTG		0.592	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		29	180	0	0	0	0	29	180				
RSU1	6251	broad.mit.edu	37	10	16794619	16794619	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:16794619G>T	ENST00000377921.3	-	6	818	c.517C>A	c.(517-519)Cct>Act	p.P173T	RSU1_ENST00000345264.5_Missense_Mutation_p.P173T|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.P120T			Q15404	RSU1_HUMAN	Ras suppressor protein 1	173					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.P173T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCCTTAGGCAGCGAGATC	0.473																																						uc001iok.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(517-519)CCT>ACT		ras suppressor protein 1 isoform 2							106.0	99.0	101.0					10																	16794619		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16794619G>T	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.517C>A	10.37:g.16794619G>T	ENSP00000367154:p.Pro173Thr					RSU1_uc001iol.2_Missense_Mutation_p.P173T|RSU1_uc001iom.2_Missense_Mutation_p.P120T|RSU1_uc001ion.2_Missense_Mutation_p.P173T	p.P173T	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	6	819	-			173			LRR 6.		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.517C>A	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574712	0.86542	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.31510	1.49;1.49	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.76203	-0.3045	10	0.87932	D	0	-5.9504	18.8996	0.92437	0.0:0.0:1.0:0.0	.	173;173	B0YJ73;Q15404	.;RSU1_HUMAN	T	173;173;120	ENSP00000339521:P173T;ENSP00000367154:P173T	ENSP00000339521:P173T	P	-	1	0	RSU1	16834625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.434000	0.97515	2.471000	0.83476	0.585000	0.79938	CCT		0.473	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		14	106	1	0	1.5e-05	1.64e-05	14	106				
CUBN	8029	broad.mit.edu	37	10	17168789	17168789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:17168789G>C	ENST00000377833.4	-	4	423	c.358C>G	c.(358-360)Ctt>Gtt	p.L120V	CUBN_ENST00000377823.1_Missense_Mutation_p.L120V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408																																						uc001ioo.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(358-360)CTT>GTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						137.0	124.0	128.0					10																	17168789		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17168789G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.358C>G	10.37:g.17168789G>C	ENSP00000367064:p.Leu120Val						p.L120V	NM_001081	NP_001072	O60494	CUBN_HUMAN			4	410	-			120					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.358C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414142	0.25465	.	.	ENSG00000107611	ENST00000377833;ENST00000433666;ENST00000377823	T;D;D	0.90197	-0.97;-2.32;-2.63	4.62	4.62	0.57501	.	0.258488	0.20349	N	0.094093	D	0.87884	0.6290	L	0.29908	0.895	0.31578	N	0.655482	D	0.58620	0.983	P	0.53401	0.725	D	0.85088	0.0950	10	0.25106	T	0.35	.	10.1327	0.42689	0.0:0.0:0.6857:0.3143	.	120	O60494	CUBN_HUMAN	V	120;7;120	ENSP00000367064:L120V;ENSP00000415970:L7V;ENSP00000367054:L120V	ENSP00000367054:L120V	L	-	1	0	CUBN	17208795	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	2.219000	0.42899	2.405000	0.81733	0.557000	0.71058	CTT		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	61	0	0	0	0	22	61				
FAM13C	220965	broad.mit.edu	37	10	61028362	61028362	+	Missense_Mutation	SNP	C	C	A	rs534813877		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:61028362C>A	ENST00000373868.2	-	8	980	c.893G>T	c.(892-894)cGg>cTg	p.R298L	FAM13C_ENST00000442566.3_Missense_Mutation_p.R319L|FAM13C_ENST00000373867.3_Missense_Mutation_p.R215L|FAM13C_ENST00000435852.2_Missense_Mutation_p.R298L|FAM13C_ENST00000422313.2_Missense_Mutation_p.R298L|FAM13C_ENST00000419214.2_Missense_Mutation_p.R298L|FAM13C_ENST00000277705.6_Missense_Mutation_p.R319L|FAM13C_ENST00000468840.2_Missense_Mutation_p.R215L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	298								p.R298L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGAATTTTCCGCTTGAGGCT	0.502																																						uc001jkn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(892-894)CGG>CTG		hypothetical protein LOC220965 isoform 1							70.0	69.0	69.0					10																	61028362		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61028362C>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.893G>T	10.37:g.61028362C>A	ENSP00000362975:p.Arg298Leu					FAM13C_uc001jko.2_Missense_Mutation_p.R298L|FAM13C_uc010qid.1_Missense_Mutation_p.R215L|FAM13C_uc010qie.1_Missense_Mutation_p.R215L|FAM13C_uc010qif.1_Missense_Mutation_p.R320L|FAM13C_uc001jkp.2_Missense_Mutation_p.R215L	p.R298L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			9	1027	-			298					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.893G>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105959	0.94292	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;0.85;-0.94;-0.94;-0.94;-0.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.86456	0.5937	M	0.68952	2.095	0.43377	D	0.995475	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.991;0.996;0.991;0.999	D	0.85919	0.1445	10	0.87932	D	0	-9.5074	20.8794	0.99867	0.0:1.0:0.0:0.0	.	298;215;298;298;298	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	215;298;319;319;298;215;298;298;76	ENSP00000362974:R215L;ENSP00000362975:R298L;ENSP00000395661:R319L;ENSP00000277705:R319L;ENSP00000391993:R298L;ENSP00000423896:R215L;ENSP00000392302:R298L;ENSP00000400241:R298L;ENSP00000445068:R76L	ENSP00000277705:R319L	R	-	2	0	FAM13C	60698368	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.452000	0.52971	2.941000	0.99782	0.655000	0.94253	CGG		0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			6	52	1	0	3.6e-05	3.89e-05	6	52				
MUC6	4588	broad.mit.edu	37	11	1018137	1018137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:1018137C>T	ENST00000421673.2	-	31	4714	c.4664G>A	c.(4663-4665)aGa>aAa	p.R1555K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1555	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGGGGTTCTGGTGCGTGT	0.572																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(4663-4665)AGA>AAA		mucin 6, gastric							239.0	249.0	245.0					11																	1018137		2171	4248	6419	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018137C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4664G>A	11.37:g.1018137C>T	ENSP00000406861:p.Arg1555Lys						p.R1555K	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4715	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1555			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4664G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.242	-1.012823	0.02095	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	1.9	-1.87	0.07737	.	.	.	.	.	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	9	0.05833	T	0.94	.	3.3941	0.07299	0.0:0.4033:0.2726:0.3241	.	1555	Q6W4X9	MUC6_HUMAN	K	1555	ENSP00000406861:R1555K	ENSP00000406861:R1555K	R	-	2	0	MUC6	1008137	0.912000	0.30974	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-0.517000	0.06461	-0.698000	0.03680	AGA		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		40	276	0	0	0	0	40	276				
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:40137212C>A	ENST00000278198.2	-	2	2594	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E211*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	211					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453																																						uc001mxa.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(631-633)GAA>TAA		netrin-G1 ligand precursor							88.0	86.0	87.0					11																	40137212		2203	4300	6503	SO:0001587	stop_gained	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137212C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.631G>T	11.37:g.40137212C>A	ENSP00000278198:p.Glu211*					LRRC4C_uc001mxc.1_Nonsense_Mutation_p.E207*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.E207*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.E207*	p.E211*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2595	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	211			LRR 6.		A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	c.631G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128637	0.98667	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	5.61	5.61	0.85477	.	0.150814	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000278198:E211X	E	-	1	0	LRRC4C	40093788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.644000	0.89710	0.650000	0.86243	GAA		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		31	98	1	0	8.89e-20	1.04e-19	31	98				
ALG9	79796	broad.mit.edu	37	11	111731328	111731328	+	3'UTR	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:111731328C>T	ENST00000524880.1	-	0	1499				ALG9_ENST00000398006.2_5'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.V401V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCATTCGACTCACGTGCAACC	0.428																																						uc001pmb.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)	2						c.(505-507)GTG>GTA		asparagine-linked glycosylation 9 protein							107.0	99.0	102.0					11																	111731328		1955	4160	6115	SO:0001624	3_prime_UTR_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111731328C>T		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000524880.1:c.*337G>A	11.37:g.111731328C>T						ALG9_uc001ply.2_5'UTR|ALG9_uc001plz.2_5'UTR|ALG9_uc010rwm.1_Silent_p.V169V|ALG9_uc010rwn.1_Silent_p.V123V|ALG9_uc010rwo.1_5'UTR|ALG9_uc009yyh.1_Silent_p.V64V	p.V169V	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	6	606	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	169			Cytoplasmic (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000524880.1	37	c.507G>A																																																																																					0.428	ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413376.1	NM_024740		10	32	0	0	0	0	10	32				
ZBTB16	7704	broad.mit.edu	37	11	114121202	114121202	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:114121202G>A	ENST00000335953.4	+	7	2327	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.M649I|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	649					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M649I(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAAGCACATGAAGGGCCACA	0.617																																						uc001pop.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	central_nervous_system(1)|skin(1)	2						c.(1945-1947)ATG>ATA		promyelocytic leukemia zinc finger protein							72.0	66.0	68.0					11																	114121202		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121202G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1947G>A	11.37:g.114121202G>A	ENSP00000338157:p.Met649Ile					ZBTB16_uc001poq.2_Missense_Mutation_p.M649I	p.M649I	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2211	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	649			C2H2-type 9.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1947G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	g	18.93	3.726988	0.69074	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10099	2.91;2.91	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.09335	0.0230	N	0.14661	0.345	0.58432	D	0.999997	B	0.18310	0.027	B	0.11329	0.006	T	0.19745	-1.0296	10	0.72032	D	0.01	-14.2338	19.2093	0.93747	0.0:0.0:1.0:0.0	.	649	Q05516	ZBT16_HUMAN	I	649;649;526	ENSP00000338157:M649I;ENSP00000376721:M649I	ENSP00000309507:M526I	M	+	3	0	ZBTB16	113626412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.762000	0.98944	2.532000	0.85374	0.436000	0.28706	ATG		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		8	90	0	0	0	0	8	90				
CD163L1	283316	broad.mit.edu	37	12	7586143	7586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:7586143C>T	ENST00000313599.3	-	3	329	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.C91Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.C91Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	91	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAAATGGACATCCAAGCTG	0.473																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(271-273)TGT>TAT		scavenger receptor cysteine-rich type 1							177.0	131.0	147.0					12																	7586143		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586143C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.272G>A	12.37:g.7586143C>T	ENSP00000315945:p.Cys91Tyr					CD163L1_uc010sge.1_Missense_Mutation_p.C91Y	p.C91Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			3	298	-			91			SRCR 1.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.272G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651010	0.67472	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.22	2.22	0.28083	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.47852	U	0.000208	T	0.42562	0.1208	L	0.38531	1.155	0.39749	D	0.97185	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.22800	-1.0206	10	0.14656	T	0.56	.	10.4936	0.44764	0.0:1.0:0.0:0.0	.	91;91	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	91	ENSP00000315945:C91Y;ENSP00000393474:C91Y;ENSP00000379871:C91Y	ENSP00000315945:C91Y	C	-	2	0	CD163L1	7477410	1.000000	0.71417	0.864000	0.33941	0.347000	0.29111	5.609000	0.67661	1.534000	0.49203	0.563000	0.77884	TGT		0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		14	89	0	0	0	0	14	89				
RAB5B	5869	broad.mit.edu	37	12	56380870	56380870	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:56380870A>G	ENST00000360299.5	+	2	347	c.126A>G	c.(124-126)aaA>aaG	p.K42K	RAB5B_ENST00000553116.1_Silent_p.K42K|RAB5B_ENST00000448789.2_Silent_p.K42K	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	42					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.K42K(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTTTTGTCAAAGGGCAGTTCC	0.463																																						uc001siv.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(124-126)AAA>AAG		RAB5B, member RAS oncogene family							101.0	97.0	98.0					12																	56380870		2203	4300	6503	SO:0001819	synonymous_variant	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56380870A>G		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.126A>G	12.37:g.56380870A>G						RAB5B_uc001siw.2_Silent_p.K42K|RAB5B_uc009zog.2_Missense_Mutation_p.K33R|RAB5B_uc010spz.1_Silent_p.K42K	p.K42K	NM_002868	NP_002859	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		2	243	+			42					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Silent	SNP	ENST00000360299.5	37	c.126A>G	CCDS8900.1																																																																																				0.463	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			20	30	0	0	0	0	20	30				
NAV3	89795	broad.mit.edu	37	12	78598823	78598823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:78598823C>T	ENST00000397909.2	+	39	7116	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*	NAV3_ENST00000541270.1_Nonsense_Mutation_p.R145*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.R2293*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.R2293*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.R2116*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2315						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2293*(1)		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						ACTTCAGCTGCGACCAGAAGA	0.512										HNSCC(70;0.22)																												uc001syp.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6943-6945)CGA>TGA		neuron navigator 3							76.0	79.0	78.0					12																	78598823		2054	4189	6243	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78598823C>T	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.6943C>T	12.37:g.78598823C>T	ENSP00000381007:p.Arg2315*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.R2293*|NAV3_uc010sub.1_Nonsense_Mutation_p.R1772*|NAV3_uc009zsf.2_Nonsense_Mutation_p.R1124*	p.R2315*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			39	7116	+			2315					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.6943C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.959090|2.959090	0.53400|0.53400	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895;ENST00000551162|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	.|.	.|.	.|.	5.4|5.4	2.14|2.14	0.27477|0.27477	.|.	.|0.000000	.|0.36628	.|U	.|0.002497	T|.	0.31544|.	0.0800|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37009|.	-0.9724|.	3|.	.|0.02654	.|T	.|1	-9.3303|-9.3303	13.1601|13.1601	0.59540|0.59540	0.7088:0.2912:0.0:0.0|0.7088:0.2912:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1187;182|2293;2315;2293;2116;145	.|.	.|ENSP00000228327:R2293X	A|R	+|+	2|1	0|2	NAV3|NAV3	77122954|77122954	0.987000|0.987000	0.35691|0.35691	0.572000|0.572000	0.28498|0.28498	0.008000|0.008000	0.06430|0.06430	0.310000|0.310000	0.19356|0.19356	0.596000|0.596000	0.29794|0.29794	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.512	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	34	0	0	0	0	10	34				
CCDC38	120935	broad.mit.edu	37	12	96288830	96288830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:96288830C>A	ENST00000344280.3	-	8	1266	c.709G>T	c.(709-711)Gca>Tca	p.A237S	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTTTAGTGCTTGCTGGATT	0.333																																						uc001tek.1		NA																	0				skin(1)	1						c.(709-711)GCA>TCA		coiled-coil domain containing 38							254.0	245.0	248.0					12																	96288830		2201	4299	6500	SO:0001583	missense	120935							g.chr12:96288830C>A	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.709G>T	12.37:g.96288830C>A	ENSP00000345470:p.Ala237Ser						p.A237S	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			8	943	-			237					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.709G>T	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	7.435	0.639415	0.14386	.	.	ENSG00000165972	ENST00000344280	T	0.32753	1.44	5.23	2.34	0.29019	.	0.423867	0.27048	N	0.021199	T	0.19725	0.0474	L	0.49455	1.56	0.58432	D	0.999996	B	0.32283	0.362	B	0.29716	0.106	T	0.06463	-1.0825	10	0.10902	T	0.67	-5.486	4.0666	0.09862	0.1706:0.5662:0.0:0.2632	.	237	Q502W7	CCD38_HUMAN	S	237	ENSP00000345470:A237S	ENSP00000345470:A237S	A	-	1	0	CCDC38	94812961	0.771000	0.28555	0.755000	0.31263	0.305000	0.27757	0.664000	0.25068	0.273000	0.22049	0.491000	0.48974	GCA		0.333	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		19	200	1	0	2.58e-16	3e-16	19	200				
TMEM132D	121256	broad.mit.edu	37	12	130184666	130184666	+	Silent	SNP	C	C	T	rs143084996		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:130184666C>T	ENST00000422113.2	-	2	983	c.657G>A	c.(655-657)ccG>ccA	p.P219P	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P219P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCCCTCCGGCTGGTCCA	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13882	0.0		0.0	False		,,,				2504	0.0					uc009zyl.1		NA																	1	Substitution - coding silent(1)	p.P219L(1)	upper_aerodigestive_tract(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(655-657)CCG>CCA		transmembrane protein 132D precursor		C		4,4402	6.2+/-15.9	0,4,2199	40.0	43.0	42.0		657	-10.6	0.0	12	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	TMEM132D	NM_133448.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		219/1100	130184666	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184666C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.657G>A	12.37:g.130184666C>T							p.P219P	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	985	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	219			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.657G>A	CCDS9266.1																																																																																				0.682	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		11	86	0	0	0	0	11	86				
FREM2	341640	broad.mit.edu	37	13	39266304	39266304	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:39266304G>C	ENST00000280481.7	+	1	5039	c.4823G>C	c.(4822-4824)gGc>gCc	p.G1608A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1608					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1608A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAACATGATGGCACTGAGTCA	0.423																																						uc001uwv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4822-4824)GGC>GCC		FRAS1-related extracellular matrix protein 2							121.0	114.0	117.0					13																	39266304		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266304G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4823G>C	13.37:g.39266304G>C	ENSP00000280481:p.Gly1608Ala						p.G1608A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5132	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1608			Extracellular (Potential).|CSPG 11.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4823G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453243	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66196	-0.5984	10	0.59425	D	0.04	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1608	Q5SZK8	FREM2_HUMAN	A	1608	ENSP00000280481:G1608A	ENSP00000280481:G1608A	G	+	2	0	FREM2	38164304	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.900000	0.87376	2.894000	0.99253	0.655000	0.94253	GGC		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		13	119	0	0	0	0	13	119				
TOX4	9878	broad.mit.edu	37	14	21961325	21961325	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:21961325A>C	ENST00000405508.1	+	8	1826	c.1550A>C	c.(1549-1551)gAg>gCg	p.E517A	TOX4_ENST00000448790.2_Missense_Mutation_p.E494A|TOX4_ENST00000262709.3_Missense_Mutation_p.E517A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	517	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.E517A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGTAGTCCTGAGCGGCCTATG	0.507																																						uc001waz.2		NA																	1	Substitution - Missense(1)	p.E517Q(1)	upper_aerodigestive_tract(1)	ovary(1)	1						c.(1549-1551)GAG>GCG		epidermal Langerhans cell protein LCP1							75.0	72.0	73.0					14																	21961325		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961325A>C	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1550A>C	14.37:g.21961325A>C	ENSP00000385102:p.Glu517Ala					TOX4_uc001way.2_Missense_Mutation_p.E387A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.E494A|TOX4_uc010tlv.1_Missense_Mutation_p.E387A	p.E517A	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	7	1653	+	all_cancers(95;0.000465)		517			Gln/Pro-rich.		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1550A>C	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734520	0.48939	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12465	2.68;2.68;2.68	5.07	5.07	0.68467	.	0.478604	0.22087	N	0.064802	T	0.10766	0.0263	N	0.12182	0.205	0.38964	D	0.958612	B;B	0.32409	0.37;0.37	B;B	0.38056	0.264;0.264	T	0.22312	-1.0220	10	0.72032	D	0.01	.	12.7369	0.57230	1.0:0.0:0.0:0.0	.	494;517	B4DPY8;O94842	.;TOX4_HUMAN	A	517;517;494;445	ENSP00000385102:E517A;ENSP00000262709:E517A;ENSP00000393080:E494A	ENSP00000262709:E517A	E	+	2	0	TOX4	21031165	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.874000	0.56101	2.259000	0.74868	0.374000	0.22700	GAG		0.507	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		13	93	0	0	0	0	13	93				
RPS6KL1	83694	broad.mit.edu	37	14	75376459	75376459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:75376459C>T	ENST00000555647.1	-	8	1344	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322S|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353S|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G353S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGCACCGGGCCGGCCCCCTCA	0.692																																						uc010tux.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|stomach(1)|central_nervous_system(1)	3						c.(1057-1059)GGC>AGC		ribosomal protein S6 kinase-like 1							10.0	13.0	12.0					14																	75376459		2158	4244	6402	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75376459C>T	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1057G>A	14.37:g.75376459C>T	ENSP00000452027:p.Gly353Ser					RPS6KL1_uc001xqx.1_Missense_Mutation_p.G105S|RPS6KL1_uc001xqw.2_Missense_Mutation_p.G322S|RPS6KL1_uc010asd.1_RNA	p.G353S	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	7	1585	-			353			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.1057G>A	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	c	1.411	-0.575587	0.03882	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.56611	0.49;0.45;0.49;0.49	5.27	1.47	0.22746	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.913212	0.09477	N	0.796930	T	0.38161	0.1030	L	0.59436	1.845	0.09310	N	1	B;P;B	0.36874	0.037;0.572;0.196	B;B;B	0.28553	0.003;0.091;0.017	T	0.19160	-1.0314	10	0.10902	T	0.67	-1.6137	5.0862	0.14682	0.1453:0.6322:0.0:0.2225	.	353;353;322	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	S	353;322;353;353	ENSP00000452027:G353S;ENSP00000346644:G322S;ENSP00000450567:G353S;ENSP00000351086:G353S	ENSP00000346644:G322S	G	-	1	0	RPS6KL1	74446212	0.000000	0.05858	0.056000	0.19401	0.001000	0.01503	-0.303000	0.08210	0.013000	0.14918	-1.250000	0.01514	GGC		0.692	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			9	37	0	0	0	0	9	37				
CDAN1	146059	broad.mit.edu	37	15	43023936	43023936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43023936G>A	ENST00000356231.3	-	11	1644	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	541					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCCACAACCGCCCCAGCTTG	0.627																																						uc001zql.2		NA																	0				ovary(2)	2						c.(1621-1623)CGG>TGG		codanin 1							40.0	44.0	42.0					15																	43023936		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43023936G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1621C>T	15.37:g.43023936G>A	ENSP00000348564:p.Arg541Trp					CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR	p.R541W	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	11	1738	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	541					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1621C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.655132	0.88056	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.90620	-2.7	5.95	5.01	0.66863	.	0.106735	0.64402	D	0.000003	D	0.94578	0.8253	M	0.69823	2.125	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.94991	0.8134	10	0.87932	D	0	-22.1965	14.3008	0.66352	0.0:0.0:0.7131:0.2869	.	541	Q8IWY9	CDAN1_HUMAN	W	541;539	ENSP00000348564:R541W	ENSP00000267892:R539W	R	-	1	2	CDAN1	40811228	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.057000	0.64294	1.443000	0.47586	0.651000	0.88453	CGG		0.627	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		4	97	0	0	0	0	4	97				
PDXDC1	23042	broad.mit.edu	37	16	15122790	15122790	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:15122790G>A	ENST00000396410.4	+	15	1357	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	PDXDC1_ENST00000450288.2_Silent_p.R392R|PDXDC1_ENST00000447912.2_Silent_p.R329R|PDXDC1_ENST00000569715.1_Silent_p.R393R|PDXDC1_ENST00000455313.2_Silent_p.R397R|PDXDC1_ENST00000563679.1_Silent_p.R438R|PDXDC1_ENST00000325823.7_Silent_p.R405R|PDXDC1_ENST00000535621.2_Silent_p.R420R	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	420					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R420R(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGTCGGCCGGGAGAGGCACT	0.582																																						uc002dda.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(1258-1260)CGG>CGA		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						92.0	80.0	84.0					16																	15122790		2197	4300	6497	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15122790G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1260G>A	16.37:g.15122790G>A						PDXDC1_uc010uzl.1_Silent_p.R405R|PDXDC1_uc010uzm.1_Silent_p.R329R|PDXDC1_uc002dcz.2_Silent_p.R397R|PDXDC1_uc002ddb.3_Silent_p.R393R|PDXDC1_uc010uzn.1_Silent_p.R392R|PDXDC1_uc002ddc.2_Silent_p.R420R	p.R420R	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			15	1484	+			420					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.1260G>A	CCDS32393.1																																																																																				0.582	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		4	60	0	0	0	0	4	60				
XYLT1	64131	broad.mit.edu	37	16	17353318	17353318	+	Missense_Mutation	SNP	C	C	G	rs150531859	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:17353318C>G	ENST00000261381.6	-	3	524	c.440G>C	c.(439-441)cGa>cCa	p.R147P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	147					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R147P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGTCTGTTCGCACTTTCTC	0.493																																						uc002dfa.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)	4						c.(439-441)CGA>CCA		xylosyltransferase I							118.0	109.0	112.0					16																	17353318		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353318C>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.440G>C	16.37:g.17353318C>G	ENSP00000261381:p.Arg147Pro						p.R147P	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	525	-			147			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.440G>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734740	0.48939	.	.	ENSG00000103489	ENST00000261381	T	0.07444	3.19	5.7	4.73	0.59995	.	0.109037	0.64402	D	0.000014	T	0.12178	0.0296	L	0.59436	1.845	0.50467	D	0.999875	B	0.21071	0.051	B	0.21151	0.033	T	0.02179	-1.1200	10	0.72032	D	0.01	-12.9535	14.8635	0.70399	0.1447:0.8553:0.0:0.0	.	147	Q86Y38	XYLT1_HUMAN	P	147	ENSP00000261381:R147P	ENSP00000261381:R147P	R	-	2	0	XYLT1	17260819	1.000000	0.71417	0.873000	0.34254	0.874000	0.50279	5.287000	0.65645	1.354000	0.45846	0.655000	0.94253	CGA		0.493	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		15	83	0	0	0	0	15	83				
NETO2	81831	broad.mit.edu	37	16	47117173	47117173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:47117173G>A	ENST00000562435.1	-	9	1921	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R506*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	513					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.R513*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAATCTTCTCGCCCCCTGACA	0.478										HNSCC(25;0.065)																												uc002eer.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(1537-1539)CGA>TGA		neuropilin- and tolloid-like protein 2							111.0	105.0	107.0					16																	47117173		2203	4300	6503	SO:0001587	stop_gained	81831					integral to membrane	receptor activity	g.chr16:47117173G>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1537C>T	16.37:g.47117173G>A	ENSP00000455169:p.Arg513*	HNSCC(25;0.065)				NETO2_uc002eeq.1_Nonsense_Mutation_p.R248*|NETO2_uc010vgf.1_Nonsense_Mutation_p.R370*	p.R513*	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			9	1922	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	513			Cytoplasmic (Potential).		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Nonsense_Mutation	SNP	ENST00000562435.1	37	c.1537C>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	G	38	7.057617	0.98032	.	.	ENSG00000171208	ENST00000303155	.	.	.	6.02	2.92	0.33932	.	0.260319	0.38605	N	0.001627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7802	0.40643	0.0643:0.0:0.5631:0.3726	.	.	.	.	X	513	.	ENSP00000306726:R513X	R	-	1	2	NETO2	45674674	0.984000	0.35163	0.948000	0.38648	0.969000	0.65631	1.987000	0.40687	0.395000	0.25257	-0.169000	0.13324	CGA		0.478	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		16	143	0	0	0	0	16	143				
NAE1	8883	broad.mit.edu	37	16	66850564	66850564	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:66850564T>A	ENST00000290810.3	-	11	857	c.760A>T	c.(760-762)Aat>Tat	p.N254Y	NAE1_ENST00000379463.2_Missense_Mutation_p.N248Y|NAE1_ENST00000359087.4_Missense_Mutation_p.N257Y|NAE1_ENST00000394074.2_Missense_Mutation_p.N165Y|NAE1_ENST00000564040.2_5'Flank			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	254					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.N254Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCATTTTCATTTTTTAGAATT	0.353																																						uc002eqf.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(760-762)AAT>TAT		NEDD8 activating enzyme E1 subunit 1 isoform a	Adenosine triphosphate(DB00171)						71.0	71.0	71.0					16																	66850564		2199	4300	6499	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66850564T>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.760A>T	16.37:g.66850564T>A	ENSP00000290810:p.Asn254Tyr					NAE1_uc002eqe.2_Missense_Mutation_p.N248Y|NAE1_uc002eqg.2_Missense_Mutation_p.N165Y|NAE1_uc010cdv.2_Missense_Mutation_p.N257Y|NAE1_uc010cdw.1_3'UTR	p.N254Y	NM_003905	NP_003896	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	11	837	-		Ovarian(137;0.0563)	254					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.760A>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.704004	0.68501	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.39	5.39	0.77823	Molybdenum cofactor biosynthesis, MoeB (1);	0.049712	0.85682	D	0.000000	T	0.52354	0.1729	M	0.77616	2.38	0.80722	D	1	B;D;P	0.59767	0.054;0.986;0.929	B;P;B	0.51487	0.013;0.671;0.3	T	0.54827	-0.8235	10	0.09590	T	0.72	-11.911	15.428	0.75069	0.0:0.0:0.0:1.0	.	257;254;248	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	Y	257;254;248;165	ENSP00000351990:N257Y;ENSP00000290810:N254Y;ENSP00000368776:N248Y;ENSP00000377637:N165Y	ENSP00000290810:N254Y	N	-	1	0	NAE1	65408065	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.430000	0.80321	2.051000	0.60960	0.533000	0.62120	AAT		0.353	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		5	49	0	0	0	0	5	49				
DHX33	56919	broad.mit.edu	37	17	5357158	5357158	+	Silent	SNP	G	G	A	rs147168886	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:5357158G>A	ENST00000225296.3	-	7	1490	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	DHX33_ENST00000433302.3_Silent_p.T206T	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.T430T(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTCTGGCACGGTCATCTTAT	0.562																																						uc002gca.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|pancreas(1)	2						c.(1288-1290)ACC>ACT		DEAH (Asp-Glu-Ala-His) box polypeptide 33							96.0	93.0	94.0					17																	5357158		2203	4300	6503	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5357158G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1290C>T	17.37:g.5357158G>A						DHX33_uc002gbz.2_Silent_p.T201T|DHX33_uc002gcb.2_Silent_p.T257T|DHX33_uc010clf.2_Silent_p.T206T	p.T430T	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			7	1292	-			430			Helicase C-terminal.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.1290C>T	CCDS11072.1																																																																																				0.562	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		18	26	0	0	0	0	18	26				
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.E294*(35)|p.E294fs*51(14)|p.K291fs*48(8)|p.0?(7)|p.E294E(4)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.E294G(2)|p.E294D(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)|p.E294V(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(880-882)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							109.0	95.0	100.0					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577058C>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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*	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_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E294*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E162*|TP53_uc010cng.1_Nonsense_Mutation_p.E162*|TP53_uc002gii.1_Nonsense_Mutation_p.E162*|TP53_uc010cnh.1_Nonsense_Mutation_p.E294*|TP53_uc010cni.1_Nonsense_Mutation_p.E294*|TP53_uc002gij.2_Nonsense_Mutation_p.E294*	p.E294*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1074	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	294		E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.880G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	57	1	0	1.11e-12	1.27e-12	22	57				
CDK5R1	8851	broad.mit.edu	37	17	30815310	30815310	+	Silent	SNP	C	C	T	rs560668827		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:30815310C>T	ENST00000313401.3	+	2	1361	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	224					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCTCCAGGCCGTCCTGCTGA	0.592																																						uc002hhn.2		NA																	0				ovary(1)	1						c.(670-672)GCC>GCT		cyclin-dependent kinase 5, regulatory subunit 1							138.0	129.0	132.0					17																	30815310		2203	4300	6503	SO:0001819	synonymous_variant	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815310C>T	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.672C>T	17.37:g.30815310C>T						CDK5R1_uc010wca.1_Silent_p.A224A|CDK5R1_uc010ctc.2_5'UTR	p.A224A	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	893	+		Breast(31;0.159)|Ovarian(249;0.182)	224					E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	37	c.672C>T	CCDS11273.1																																																																																				0.592	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		36	209	0	0	0	0	36	209				
TBKBP1	9755	broad.mit.edu	37	17	45777021	45777021	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:45777021C>T	ENST00000361722.3	+	6	1679	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						TCCAACCAGTCGGAGCGAGAC	0.572											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ilu.2		NA																	0					0						c.(829-831)TCG>TTG		TBK1 binding protein 1							233.0	239.0	237.0					17																	45777021		2022	4198	6220	SO:0001583	missense	9755				innate immune response			g.chr17:45777021C>T	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.830C>T	17.37:g.45777021C>T	ENSP00000354777:p.Ser277Leu		OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.S277L	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			6	1679	+			277						Missense_Mutation	SNP	ENST00000361722.3	37	c.830C>T	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861705	0.71949	.	.	ENSG00000198933	ENST00000361722	.	.	.	5.24	5.24	0.73138	.	0.583669	0.16812	N	0.198534	T	0.29061	0.0722	N	0.08118	0	0.35667	D	0.813037	D	0.54047	0.964	B	0.36567	0.228	T	0.50583	-0.8811	9	0.72032	D	0.01	-18.7109	17.757	0.88452	0.0:1.0:0.0:0.0	.	277	A7MCY6	TBKB1_HUMAN	L	277	.	ENSP00000354777:S277L	S	+	2	0	TBKBP1	43132020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.745000	0.74860	2.717000	0.92951	0.462000	0.41574	TCG		0.572	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		21	197	0	0	0	0	21	197				
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A	rs573904210		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:59946709G>A	ENST00000444766.3	-	22	3162	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_ENST00000251334.6_Silent_p.V1021V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.V1029V(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.0		0.0	False		,,,				2504	0.001					uc002izn.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(3085-3087)GTC>GTT		integrator complex subunit 2							35.0	32.0	33.0					17																	59946709		1834	4084	5918	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59946709G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3087C>T	17.37:g.59946709G>A						INTS2_uc002izm.2_Silent_p.V1021V	p.V1029V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			22	3163	-			1029					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.3087C>T	CCDS45750.1																																																																																				0.373	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		7	19	0	0	0	0	7	19				
AXIN2	8313	broad.mit.edu	37	17	63554134	63554134	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:63554134C>T	ENST00000375702.5	-	1	713	c.605G>A	c.(604-606)aGt>aAt	p.S202N	AXIN2_ENST00000307078.5_Missense_Mutation_p.S202N|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	202					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCTCCCCCACTCCTCACATA	0.488									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(604-606)AGT>AAT		axin 2							141.0	115.0	123.0					17																	63554134		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554134C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.605G>A	17.37:g.63554134C>T	ENSP00000364854:p.Ser202Asn					AXIN2_uc010den.1_Missense_Mutation_p.S202N|AXIN2_uc002jfh.2_Missense_Mutation_p.S202N|AXIN2_uc002jfj.1_Missense_Mutation_p.S202N	p.S202N	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	894	-			202					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.605G>A		.	.	.	.	.	.	.	.	.	.	C	10.62	1.401085	0.25291	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.22945	1.93;1.93	5.27	5.27	0.74061	Regulator of G protein signalling superfamily (1);	0.200646	0.51477	D	0.000096	T	0.24470	0.0593	L	0.28274	0.84	0.40109	D	0.976462	P;B;P	0.50617	0.937;0.059;0.937	P;B;P	0.46110	0.504;0.046;0.504	T	0.01914	-1.1248	10	0.31617	T	0.26	-13.6785	17.0679	0.86564	0.0:1.0:0.0:0.0	.	202;202;202	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	N	202	ENSP00000302625:S202N;ENSP00000364854:S202N	ENSP00000302625:S202N	S	-	2	0	AXIN2	60984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.700000	0.37815	2.446000	0.82766	0.455000	0.32223	AGT		0.488	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		44	58	0	0	0	0	44	58				
LAMA1	284217	broad.mit.edu	37	18	6973160	6973160	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr18:6973160G>T	ENST00000389658.3	-	47	6763	c.6670C>A	c.(6670-6672)Caa>Aaa	p.Q2224K	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2224	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.Q2224K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGTGACTTTTGATTTGAGCTC	0.378																																						uc002knm.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6670-6672)CAA>AAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						187.0	174.0	178.0					18																	6973160		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6973160G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6670C>A	18.37:g.6973160G>T	ENSP00000374309:p.Gln2224Lys					LAMA1_uc010wzj.1_Missense_Mutation_p.Q1700K	p.Q2224K	NM_005559	NP_005550	P25391	LAMA1_HUMAN			47	6764	-		Colorectal(10;0.172)	2224			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6670C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	2.539	-0.306627	0.05458	.	.	ENSG00000101680	ENST00000389658	T	0.16196	2.36	5.52	2.61	0.31194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.399756	0.25654	N	0.029193	T	0.11623	0.0283	N	0.20986	0.625	0.29533	N	0.85262	B	0.28178	0.202	B	0.32090	0.14	T	0.25222	-1.0138	10	0.02654	T	1	.	16.5884	0.84745	0.0:0.3799:0.6201:0.0	.	2224	P25391	LAMA1_HUMAN	K	2224	ENSP00000374309:Q2224K	ENSP00000374309:Q2224K	Q	-	1	0	LAMA1	6963160	0.998000	0.40836	0.006000	0.13384	0.846000	0.48090	3.012000	0.49575	0.321000	0.23259	0.643000	0.83706	CAA		0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		40	73	1	0	2.64e-12	3.03e-12	40	73				
MUC16	94025	broad.mit.edu	37	19	9064691	9064691	+	Silent	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:9064691T>A	ENST00000397910.4	-	3	22958	c.22755A>T	c.(22753-22755)acA>acT	p.T7585T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7587	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)		p.T7585T(1)|p.T3218T(1)		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						CTGACATGGATGTTCTGCTAA	0.488																																						uc002mkp.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22753-22755)ACA>ACT		mucin 16							124.0	120.0	121.0					19																	9064691		2031	4179	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064691T>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.22755A>T	19.37:g.9064691T>A							p.T7585T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22959	-			7587			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22755A>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	89	0	0	0	0	16	89				
KEAP1	9817	broad.mit.edu	37	19	10602732	10602732	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:10602732C>T	ENST00000171111.5	-	3	1393	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KEAP1_ENST00000393623.2_Silent_p.Q282Q|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	282	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.Q282Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCAGCTGCATCTGCAGGAAGT	0.617																																						uc002moq.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(844-846)CAG>CAA		kelch-like ECH-associated protein 1							60.0	60.0	60.0					19																	10602732		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602732C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.846G>A	19.37:g.10602732C>T						KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Silent_p.Q282Q	p.Q282Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1002	-			282			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.846G>A	CCDS12239.1																																																																																				0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	72	0	0	0	0	12	72				
ZNF527	84503	broad.mit.edu	37	19	37880352	37880352	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:37880352A>G	ENST00000436120.2	+	5	1508	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E467E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACCGGAGAAAAGCCCTATG	0.413																																						uc010efk.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1399-1401)GAA>GAG		zinc finger protein 527							70.0	78.0	75.0					19																	37880352		2181	4286	6467	SO:0001819	synonymous_variant	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880352A>G	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1401A>G	19.37:g.37880352A>G						ZNF527_uc002ogf.3_Silent_p.E435E|ZNF527_uc010xtq.1_RNA	p.E467E	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1512	+			467					B4DVL5	Silent	SNP	ENST00000436120.2	37	c.1401A>G	CCDS42559.1																																																																																				0.413	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		5	64	0	0	0	0	5	64				
XPO1	7514	broad.mit.edu	37	2	61719223	61719223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:61719223C>T	ENST00000401558.2	-	16	2561	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	XPO1_ENST00000406957.1_Missense_Mutation_p.D612N|XPO1_ENST00000404992.2_Missense_Mutation_p.D612N	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	612	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.D612N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAATTTCATCAATAAATGGC	0.363			Mis		CLL																																	uc002sbj.2		NA	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(1834-1836)GAT>AAT		exportin 1							85.0	81.0	83.0					2																	61719223		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61719223C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1834G>A	2.37:g.61719223C>T	ENSP00000384863:p.Asp612Asn					XPO1_uc010fcl.2_Missense_Mutation_p.D608N|XPO1_uc010ypn.1_Missense_Mutation_p.D608N|XPO1_uc002sbk.2_Missense_Mutation_p.D173N|XPO1_uc002sbh.2_Missense_Mutation_p.D259N	p.D612N	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		16	2562	-			612			HEAT 6.|Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1834G>A	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574235	0.86542	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.68181	-0.31;-0.31;-0.31	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	L	0.29908	0.895	0.80722	D	1	P;P	0.47677	0.833;0.899	B;B	0.42555	0.226;0.391	T	0.55263	-0.8168	10	0.23891	T	0.37	-25.5132	20.2602	0.98440	0.0:1.0:0.0:0.0	.	259;612	B3KWD0;O14980	.;XPO1_HUMAN	N	612	ENSP00000384863:D612N;ENSP00000385942:D612N;ENSP00000385559:D612N	ENSP00000384863:D612N	D	-	1	0	XPO1	61572727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.861000	0.98227	0.655000	0.94253	GAT		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		14	87	0	0	0	0	14	87				
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A	rs371492015		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:70890768G>A	ENST00000264436.4	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.T657M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572																																						uc002sgz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|pancreas(1)	3						c.(1969-1971)ACG>ATG		adducin 2 isoform a		G	MET/THR,MET/THR,	0,4406		0,0,2203	159.0	134.0	142.0		1970,1970,	4.5	0.8	2		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	ADD2	NM_001185054.1,NM_001617.3,NM_017488.3	81,81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	657/727,657/727,	70890768	1,13005	2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890768G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1970C>T	2.37:g.70890768G>A	ENSP00000264436:p.Thr657Met					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.T351M|ADD2_uc002sgx.2_3'UTR	p.T657M	NM_001617	NP_001608	P35612	ADDB_HUMAN			16	2435	-			657					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1970C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554912	0.27739	0.0	1.16E-4	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.47177	0.85;0.85	5.43	4.53	0.55603	.	0.960839	0.08665	N	0.911763	T	0.34571	0.0902	N	0.08118	0	0.80722	D	1	D;D	0.59767	0.964;0.986	B;B	0.43623	0.425;0.425	T	0.22173	-1.0224	10	0.66056	D	0.02	-15.3815	13.9247	0.63955	0.0:0.1595:0.8405:0.0	.	657;657	Q05DK5;P35612	.;ADDB_HUMAN	M	657;657;408	ENSP00000264436:T657M;ENSP00000384677:T657M	ENSP00000264436:T657M	T	-	2	0	ADD2	70744276	0.905000	0.30787	0.780000	0.31762	0.032000	0.12392	1.937000	0.40193	1.377000	0.46286	0.650000	0.86243	ACG		0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		15	154	0	0	0	0	15	154				
REV1	51455	broad.mit.edu	37	2	100022563	100022563	+	Missense_Mutation	SNP	G	G	A	rs368815341		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:100022563G>A	ENST00000258428.3	-	17	2848	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R873W|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	874					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.R874W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCAGCCCGAAATACTACA	0.398								Direct reversal of damage																														uc002tad.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(2620-2622)CGG>TGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							41.0	40.0	40.0					2																	100022563		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100022563G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2620C>T	2.37:g.100022563G>A	ENSP00000258428:p.Arg874Trp					REV1_uc002tac.2_Missense_Mutation_p.R873W	p.R874W	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			17	2832	-			874					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2620C>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232771	0.39498	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.28895	1.59;1.59	5.88	4.01	0.46588	.	0.336617	0.30979	N	0.008498	T	0.18341	0.0440	N	0.08118	0	0.21416	N	0.999699	P;D	0.58620	0.876;0.983	B;P	0.45712	0.232;0.491	T	0.05338	-1.0891	10	0.66056	D	0.02	.	9.1314	0.36848	0.0:0.3819:0.5034:0.1147	.	874;873	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	W	873;874	ENSP00000377091:R873W;ENSP00000258428:R874W	ENSP00000258428:R874W	R	-	1	2	REV1	99388995	0.998000	0.40836	0.867000	0.34043	0.237000	0.25408	2.446000	0.44908	1.448000	0.47680	0.655000	0.94253	CGG		0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		4	26	0	0	0	0	4	26				
CCDC74B	91409	broad.mit.edu	37	2	130899886	130899886	+	Missense_Mutation	SNP	C	C	T	rs373444954		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:130899886C>T	ENST00000310463.6	-	3	501	c.364G>A	c.(364-366)Gga>Aga	p.G122R	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.G224R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	122										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ACCCACACTCCGTTGATGCAG	0.652																																						uc002tqm.1		NA																	0					0						c.(364-366)GGA>AGA		coiled-coil domain containing 74B							12.0	16.0	15.0					2																	130899886		2185	4252	6437	SO:0001583	missense	91409							g.chr2:130899886C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.364G>A	2.37:g.130899886C>T	ENSP00000308873:p.Gly122Arg					CCDC74B_uc010yzw.1_Missense_Mutation_p.G224R|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	p.G122R	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN			3	426	-	Colorectal(110;0.1)		122					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.364G>A	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.08|11.08	1.533819|1.533819	0.27387|0.27387	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000310463;ENST00000392984|ENST00000457413	T;T|.	0.30182|.	1.72;1.54|.	1.69|1.69	-3.37|-3.37	0.04898|0.04898	.|.	1.813040|.	0.04461|.	N|.	0.374367|.	T|T	0.29126|0.29126	0.0724|0.0724	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;P|.	0.43857|.	0.004;0.819|.	B;B|.	0.26202|.	0.002;0.067|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.07813|.	T|.	0.8|.	.|.	3.2057|3.2057	0.06665|0.06665	0.0:0.3403:0.2254:0.4342|0.0:0.3403:0.2254:0.4342	.|.	224;122|.	E7ESC5;Q96LY2|.	.;CC74B_HUMAN|.	R|Q	122;224|163	ENSP00000308873:G122R;ENSP00000376710:G224R|.	ENSP00000308873:G122R|.	G|R	-|-	1|2	0|0	CCDC74B|CCDC74B	130616356|130616356	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.245000|-1.245000	0.02899|0.02899	-1.317000|-1.317000	0.02292|0.02292	-0.394000|-0.394000	0.06481|0.06481	GGA|CGG		0.652	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		6	82	0	0	0	0	6	82				
CCDC74A	90557	broad.mit.edu	37	2	132288220	132288220	+	Missense_Mutation	SNP	G	G	A	rs148324548	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:132288220G>A	ENST00000295171.6	+	3	502	c.364G>A	c.(364-366)Gga>Aga	p.G122R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.G224R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	122										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCATCAACGGAGTGTGGGT	0.657																																						uc002tta.2		NA																	0				skin(1)	1						c.(364-366)GGA>AGA		coiled-coil domain containing 74A							10.0	15.0	13.0					2																	132288220		2135	4241	6376	SO:0001583	missense	90557							g.chr2:132288220G>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.364G>A	2.37:g.132288220G>A	ENSP00000295171:p.Gly122Arg					CCDC74A_uc002ttb.2_Intron	p.G122R	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			3	416	+			122					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.364G>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	7.948	0.744349	0.15710	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.64803	1.73;-0.12	1.57	-2.8	0.05823	.	1.760290	0.04563	N	0.391849	T	0.64649	0.2617	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54476	-0.8288	10	0.23891	T	0.37	.	2.7074	0.05165	0.265:0.2847:0.4503:0.0	.	122	Q96AQ1	CC74A_HUMAN	R	122;224	ENSP00000295171:G122R;ENSP00000444610:G224R	ENSP00000295171:G122R	G	+	1	0	CCDC74A	132004690	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.667000	0.05274	-0.886000	0.03966	0.194000	0.17425	GGA		0.657	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		6	64	0	0	0	0	6	64				
MBD5	55777	broad.mit.edu	37	2	149243425	149243425	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:149243425A>C	ENST00000407073.1	+	11	3957	c.2960A>C	c.(2959-2961)cAg>cCg	p.Q987P	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1220P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	987					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q987P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACTTCTCCAGGGGTACCAG	0.443																																						uc002twm.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(3)|ovary(2)	5						c.(2959-2961)CAG>CCG		methyl-CpG binding domain protein 5							104.0	105.0	104.0					2																	149243425		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149243425A>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2960A>C	2.37:g.149243425A>C	ENSP00000386049:p.Gln987Pro					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.Q987P|MBD5_uc002two.2_Missense_Mutation_p.Q245P|MBD5_uc002twp.2_Missense_Mutation_p.Q37P	p.Q987P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	3948	+			987					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2960A>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652759	0.47362	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.21361	2.01;2.01	5.47	4.33	0.51752	.	0.106857	0.42294	D	0.000732	T	0.15305	0.0369	N	0.24115	0.695	0.36810	D	0.885844	B;B	0.25105	0.118;0.118	B;B	0.28232	0.087;0.087	T	0.11717	-1.0576	10	0.52906	T	0.07	-3.7812	10.7651	0.46288	0.9257:0.0:0.0743:0.0	.	1220;987	E9PHH0;Q9P267	.;MBD5_HUMAN	P	987;1220	ENSP00000386049:Q987P;ENSP00000384672:Q1220P	ENSP00000384672:Q1220P	Q	+	2	0	MBD5	148959895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.735000	0.62051	2.085000	0.62840	0.482000	0.46254	CAG		0.443	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			9	101	0	0	0	0	9	101				
TANC1	85461	broad.mit.edu	37	2	160050872	160050872	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:160050872A>T	ENST00000263635.6	+	17	3084	c.2847A>T	c.(2845-2847)gaA>gaT	p.E949D	TANC1_ENST00000454300.1_Missense_Mutation_p.E843D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E949D(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCCACGAGGAAGTTGTCACTC	0.557																																						uc002uag.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2845-2847)GAA>GAT		tetratricopeptide repeat, ankyrin repeat and							74.0	75.0	75.0					2																	160050872		2092	4215	6307	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050872A>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2847A>T	2.37:g.160050872A>T	ENSP00000263635:p.Glu949Asp					TANC1_uc010zcm.1_Missense_Mutation_p.E941D|TANC1_uc010fom.1_Missense_Mutation_p.E755D	p.E949D	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			17	3121	+			949			ANK 2.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2847A>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544599	0.45280	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.15603	2.41;2.41	5.51	-2.93	0.05598	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	N	0.13198	0.31	0.58432	D	0.999993	D;B;B	0.69078	0.997;0.181;0.176	D;B;B	0.79108	0.992;0.074;0.267	T	0.00443	-1.1736	10	0.26408	T	0.33	.	12.3298	0.55033	0.5008:0.0:0.4992:0.0	.	941;843;949	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	D	843;949	ENSP00000396339:E843D;ENSP00000263635:E949D	ENSP00000263635:E949D	E	+	3	2	TANC1	159759118	0.676000	0.27567	0.918000	0.36340	0.967000	0.64934	-0.028000	0.12350	-0.790000	0.04492	-0.379000	0.06801	GAA		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			27	83	0	0	0	0	27	83				
HOXD13	3239	broad.mit.edu	37	2	176958146	176958146	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:176958146C>T	ENST00000392539.3	+	1	528	c.528C>T	c.(526-528)agC>agT	p.S176S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	176					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGGCGAGCAGCAGCGTACCGG	0.622			T	NUP98	AML*																																	uc002ukf.1		NA		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				lung(1)	1						c.(526-528)AGC>AGT		homeobox D13							53.0	48.0	50.0					2																	176958146		2203	4300	6503	SO:0001819	synonymous_variant	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958146C>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.528C>T	2.37:g.176958146C>T							p.S176S	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	615	+			176						Silent	SNP	ENST00000392539.3	37	c.528C>T	CCDS2264.2																																																																																				0.622	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			4	85	0	0	0	0	4	85				
TTN	7273	broad.mit.edu	37	2	179497431	179497431	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:179497431C>A	ENST00000591111.1	-	185	38603	c.38379G>T	c.(38377-38379)gaG>gaT	p.E12793D	TTN_ENST00000460472.2_Missense_Mutation_p.E5369D|TTN_ENST00000359218.5_Missense_Mutation_p.E5494D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11866D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14434D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5561D			Q8WZ42	TITIN_HUMAN	titin	12793	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E11866D(1)|p.E5561D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTTTGGGCTCCCTGGATA	0.418																																						uc010zfg.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35596-35598)GAG>GAT		titin isoform N2-A							180.0	176.0	178.0					2																	179497431		1897	4109	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497431C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38379G>T	2.37:g.179497431C>A	ENSP00000465570:p.Glu12793Asp					TTN_uc010zfh.1_Missense_Mutation_p.E5561D|TTN_uc010zfi.1_Missense_Mutation_p.E5494D|TTN_uc010zfj.1_Missense_Mutation_p.E5369D	p.E11866D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35822	-			12793					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35598G>T		.	.	.	.	.	.	.	.	.	.	C	9.769	1.172294	0.21704	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	6.16	2.45	0.29901	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	L	0.31578	0.945	0.32458	N	0.54446	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48952	0.596;0.596;0.596;0.596	T	0.76361	-0.2987	9	0.87932	D	0	.	10.6723	0.45766	0.0:0.6388:0.0:0.3612	.	5369;5494;5561;12793	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	11866;5369;5561;5494;5369	ENSP00000343764:E11866D;ENSP00000434586:E5369D;ENSP00000340554:E5561D;ENSP00000352154:E5494D	ENSP00000340554:E5561D	E	-	3	2	TTN	179205676	0.959000	0.32827	1.000000	0.80357	0.971000	0.66376	0.135000	0.15952	0.494000	0.27859	-0.961000	0.02630	GAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	211	1	0	3.65e-15	4.23e-15	29	211				
INPP5D	3635	broad.mit.edu	37	2	234078797	234078797	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:234078797A>G	ENST00000359570.5	+	17	1742	c.1742A>G	c.(1741-1743)gAt>gGt	p.D581G	INPP5D_ENST00000450745.1_Missense_Mutation_p.D345G|INPP5D_ENST00000455936.2_Missense_Mutation_p.D345G|INPP5D_ENST00000538935.1_Missense_Mutation_p.D580G			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	593					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.D593G(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TACCGTGTGGATCTGCCTACC	0.607																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1777-1779)GAT>GGT		SH2 containing inositol phosphatase isoform a							61.0	62.0	61.0					2																	234078797		2058	4201	6259	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234078797A>G	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1742A>G	2.37:g.234078797A>G	ENSP00000352575:p.Asp581Gly					INPP5D_uc010zmp.1_Missense_Mutation_p.D592G	p.D593G	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1931	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	593					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.1778A>G		.	.	.	.	.	.	.	.	.	.	A	16.15	3.041178	0.55003	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.82	4.82	0.62117	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.655383	0.16122	N	0.228615	D	0.82472	0.5044	.	.	.	0.44918	D	0.997936	B;B	0.32507	0.179;0.373	B;B	0.37833	0.25;0.259	T	0.83080	-0.0138	9	0.87932	D	0	.	14.407	0.67088	1.0:0.0:0.0:0.0	.	592;593	Q92835-2;Q92835	.;SHIP1_HUMAN	G	581;580;345;345;214;214;214	ENSP00000352575:D581G;ENSP00000441010:D580G;ENSP00000407916:D345G;ENSP00000404610:D345G;ENSP00000400151:D214G;ENSP00000397421:D214G;ENSP00000405338:D214G	ENSP00000352575:D581G	D	+	2	0	INPP5D	233742861	1.000000	0.71417	0.996000	0.52242	0.716000	0.41182	8.905000	0.92613	1.812000	0.52913	0.459000	0.35465	GAT		0.607	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		8	36	0	0	0	0	8	36				
COL6A3	1293	broad.mit.edu	37	2	238253407	238253407	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:238253407G>A	ENST00000295550.4	-	36	7706	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	COL6A3_ENST00000346358.4_Silent_p.F2218F|COL6A3_ENST00000347401.3_Silent_p.F2217F|COL6A3_ENST00000409809.1_Silent_p.F2212F|COL6A3_ENST00000472056.1_Silent_p.F1811F|COL6A3_ENST00000353578.4_Silent_p.F2212F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2418	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F2418F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCCGGCCGAAAGTGTCTT	0.567																																						uc002vwl.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7252-7254)TTC>TTT		alpha 3 type VI collagen isoform 1 precursor							81.0	87.0	85.0					2																	238253407		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253407G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7254C>T	2.37:g.238253407G>A						COL6A3_uc002vwo.2_Silent_p.F2212F|COL6A3_uc010znj.1_Silent_p.F1811F|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.F239F	p.F2418F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7539	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2418			VWFA 11.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7254C>T	CCDS33412.1																																																																																				0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		17	136	0	0	0	0	17	136				
OXT	5020	broad.mit.edu	37	20	3052920	3052920	+	Silent	SNP	C	C	T	rs373657534		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:3052920C>T	ENST00000217386.2	+	2	354	c.318C>T	c.(316-318)agC>agT	p.S106S		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	106					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)				lung(2)	2					Oxytocin(DB00107)	TCTGCTGCAGCCCGGGTGAGC	0.751																																						uc002wht.1		NA																	0					0						c.(316-318)AGC>AGT		oxytocin-neurophysin I preproprotein	Oxytocin(DB00107)	C		1,4031		0,1,2015	7.0	10.0	9.0		318	1.1	0.0	20		9	1,8017		0,1,4008	no	coding-synonymous	OXT	NM_000915.2		0,2,6023	TT,TC,CC		0.0125,0.0248,0.0166		106/126	3052920	2,12048	2016	4009	6025	SO:0001819	synonymous_variant	5020				signal transduction		neurohypophyseal hormone activity	g.chr20:3052920C>T		CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"""Endogenous ligands"""	8528	protein-coding gene	gene with protein product	"""oxytocin"", ""neurophysin I"""	167050	"""oxytocin, prepro- (neurophysin I)"", ""oxytocin, prepropeptide"""	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.318C>T	20.37:g.3052920C>T							p.S106S	NM_000915	NP_000906	P01178	NEU1_HUMAN			2	354	+			106					Q3MIG0	Silent	SNP	ENST00000217386.2	37	c.318C>T	CCDS13044.1																																																																																				0.751	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2	NM_000915		3	26	0	0	0	0	3	26				
CFAP61	26074	broad.mit.edu	37	20	20177407	20177407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:20177407C>T	ENST00000245957.5	+	16	1860	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		595										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACCCAAAATCCAGAGAAGGC	0.468																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1783-1785)TCC>TTC		hypothetical protein LOC26074							84.0	79.0	80.0					20																	20177407		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177407C>T																												ENST00000245957.5:c.1784C>T	20.37:g.20177407C>T	ENSP00000245957:p.Ser595Phe					C20orf26_uc010zse.1_Missense_Mutation_p.S575F	p.S595F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1860	+			595					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1784C>T	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.007|5.007	0.187033|0.187033	0.09547|0.09547	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.10860	.|2.83	5.68|5.68	-10.1|-10.1	0.00402|0.00402	.|.	.|2.457580	.|0.00924	.|N	.|0.002639	T|T	0.04407|0.04407	0.0121|0.0121	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999993|0.999993	.|B;B	.|0.27013	.|0.166;0.001	.|B;B	.|0.27076	.|0.076;0.002	T|T	0.36359|0.36359	-0.9751|-0.9751	5|10	.|0.11794	.|T	.|0.64	.|.	0.7226|0.7226	0.00943|0.00943	0.2287:0.1817:0.2985:0.2911|0.2287:0.1817:0.2985:0.2911	.|.	.|575;595	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	S|F	135|535;163;575;595	.|ENSP00000245957:S595F	.|ENSP00000245957:S595F	P|S	+|+	1|2	0|0	C20orf26|C20orf26	20125407|20125407	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	-0.403000|-0.403000	0.07214|0.07214	-1.808000|-1.808000	0.01234|0.01234	-0.150000|-0.150000	0.13652|0.13652	CCA|TCC		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			9	91	0	0	0	0	9	91				
THAP7	80764	broad.mit.edu	37	22	21355011	21355011	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:21355011C>T	ENST00000215742.4	-	3	476	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R101Q|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	101					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTTGGTTGTCCGGCGCAACTT	0.572																																						uc002ztr.1		NA																	0					0						c.(301-303)CGG>CAG		THAP domain containing 7 isoform 2							147.0	135.0	139.0					22																	21355011		2203	4300	6503	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21355011C>T	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.302G>A	22.37:g.21355011C>T	ENSP00000215742:p.Arg101Gln					THAP7_uc002zts.1_Missense_Mutation_p.R101Q|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	p.R101Q	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	332	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	101					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.302G>A	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358977	0.24598	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96265	-3.96;-3.96	4.24	4.24	0.50183	.	0.232325	0.27016	N	0.021354	D	0.89798	0.6819	N	0.14661	0.345	0.09310	N	0.999993	B	0.23058	0.079	B	0.09377	0.004	T	0.77327	-0.2629	10	0.16420	T	0.52	-20.8304	12.2891	0.54809	0.0:1.0:0.0:0.0	.	101	Q9BT49	THAP7_HUMAN	Q	101	ENSP00000215742:R101Q;ENSP00000382084:R101Q	ENSP00000215742:R101Q	R	-	2	0	THAP7	19685011	0.042000	0.20092	0.133000	0.22050	0.081000	0.17604	1.367000	0.34204	2.356000	0.79943	0.561000	0.74099	CGG		0.572	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		5	255	0	0	0	0	5	255				
ZNF280A	129025	broad.mit.edu	37	22	22869403	22869403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:22869403C>G	ENST00000302097.3	-	2	804	c.552G>C	c.(550-552)agG>agC	p.R184S	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R184S(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGATTCCATCCCTGAGTTTAA	0.448																																						uc002zwe.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(550-552)AGG>AGC		zinc finger protein 280A							103.0	97.0	99.0					22																	22869403		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869403C>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.552G>C	22.37:g.22869403C>G	ENSP00000302855:p.Arg184Ser					LOC96610_uc011aim.1_Intron	p.R184S	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	805	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	184						Missense_Mutation	SNP	ENST00000302097.3	37	c.552G>C	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.439760	0.01098	.	.	ENSG00000169548	ENST00000302097	T	0.11821	2.74	3.57	-3.42	0.04825	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.42949	-0.9421	9	0.02654	T	1	-0.0253	6.9693	0.24640	0.5645:0.3165:0.119:0.0	.	184	P59817	Z280A_HUMAN	S	184	ENSP00000302855:R184S	ENSP00000302855:R184S	R	-	3	2	ZNF280A	21199403	0.016000	0.18221	0.000000	0.03702	0.008000	0.06430	0.649000	0.24843	-0.649000	0.05430	-0.182000	0.12963	AGG		0.448	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		19	165	0	0	0	0	19	165				
HPS4	89781	broad.mit.edu	37	22	26849287	26849287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:26849287G>A	ENST00000398145.2	-	14	2655	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	HPS4_ENST00000336873.5_Missense_Mutation_p.S680F|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000398141.1_Missense_Mutation_p.S693F|HPS4_ENST00000402105.3_Missense_Mutation_p.S675F	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	680					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGGAAGCCGGAGCTCCGTGC	0.582									Hermansky-Pudlak syndrome																													uc003acl.2		NA																	0					0						c.(2038-2040)TCC>TTC		light ear protein isoform a							128.0	129.0	128.0					22																	26849287		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26849287G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.2039C>T	22.37:g.26849287G>A	ENSP00000381213:p.Ser680Phe					HPS4_uc003aci.2_Missense_Mutation_p.S675F|HPS4_uc003acj.2_Missense_Mutation_p.S544F|HPS4_uc003ack.2_Missense_Mutation_p.S471F|HPS4_uc003acn.2_Missense_Mutation_p.S526F|HPS4_uc003ach.2_Missense_Mutation_p.S415F	p.S680F	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			14	2698	-			680					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.2039C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257793	0.59321	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.77103	2.36	0.51767	D	0.999939	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.59963	-0.7355	10	0.87932	D	0	-22.7062	16.3069	0.82852	0.0:0.0:1.0:0.0	.	680;680;680;693;675	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	F	680;693;675;680	ENSP00000381213:S680F;ENSP00000381210:S693F;ENSP00000384185:S675F;ENSP00000338457:S680F	ENSP00000338457:S680F	S	-	2	0	HPS4	25179287	1.000000	0.71417	0.922000	0.36590	0.140000	0.21249	8.245000	0.89825	2.307000	0.77673	0.555000	0.69702	TCC		0.582	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		7	268	0	0	0	0	7	268				
AP1B1	162	broad.mit.edu	37	22	29730294	29730294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:29730294G>A	ENST00000405198.1	-	16	2300	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000357586.2_Nonsense_Mutation_p.Q757*|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q730*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000472057.1_5'UTR			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	757					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCATGACCTGCAAGGCCTTG	0.607																																						uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(2269-2271)CAG>TAG		adaptor-related protein complex 1 beta 1 subunit							127.0	106.0	113.0					22																	29730294		2203	4300	6503	SO:0001587	stop_gained	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29730294G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2269C>T	22.37:g.29730294G>A	ENSP00000384194:p.Gln757*					AP1B1_uc003afi.2_Nonsense_Mutation_p.Q750*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q750*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q730*|AP1B1_uc003afh.2_5'Flank|AP1B1_uc011ako.1_Nonsense_Mutation_p.Q310*|SNORD125_uc010gvn.1_5'Flank	p.Q757*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			17	2453	-			757					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Nonsense_Mutation	SNP	ENST00000405198.1	37	c.2269C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859345	0.97036	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	.	.	.	5.56	5.56	0.83823	.	0.103453	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-21.4162	19.1202	0.93360	0.0:0.0:1.0:0.0	.	.	.	.	X	757;750;750;757;730;750;750	.	ENSP00000319361:Q730X	Q	-	1	0	AP1B1	28060294	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.150000	0.64869	2.616000	0.88540	0.563000	0.77884	CAG		0.607	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		4	130	0	0	0	0	4	130				
LHFPL4	375323	broad.mit.edu	37	3	9547694	9547694	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	213						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657																																						uc003bry.2		NA																	0				ovary(2)|skin(1)	3						c.(598-600)CGG>CGA		lipoma HMGIC fusion partner-like 4							109.0	94.0	99.0					3																	9547694		2203	4300	6503	SO:0001819	synonymous_variant	375323					integral to membrane		g.chr3:9547694C>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.600G>A	3.37:g.9547694C>T							p.R200R	NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN			3	886	-	Medulloblastoma(99;0.227)		200					A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	c.600G>A	CCDS33691.1																																																																																				0.657	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		4	160	0	0	0	0	4	160				
PARP3	10039	broad.mit.edu	37	3	51979165	51979165	+	Silent	SNP	G	G	A	rs375724604		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:51979165G>A	ENST00000417220.2	+	7	1274	c.786G>A	c.(784-786)ccG>ccA	p.P262P	PARP3_ENST00000398755.3_Silent_p.P269P|PARP3_ENST00000431474.1_Silent_p.P262P			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	262	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTCATCCCGCACAACTTCG	0.637																																						uc003dby.2		NA																	0				ovary(1)	1						c.(784-786)CCG>CCA		poly (ADP-ribose) polymerase family, member 3		G	,	0,4108		0,0,2054	77.0	89.0	85.0		807,786	0.8	1.0	3		85	1,8391		0,1,4195	no	coding-synonymous,coding-synonymous	PARP3	NM_001003931.2,NM_005485.4	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	269/541,262/534	51979165	1,12499	2054	4196	6250	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979165G>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.786G>A	3.37:g.51979165G>A						PARP3_uc003dbz.2_Silent_p.P269P	p.P262P	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	6	1157	+			262			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.786G>A	CCDS43097.1																																																																																				0.637	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		4	126	0	0	0	0	4	126				
PTPRG	5793	broad.mit.edu	37	3	62261572	62261572	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:62261572T>C	ENST00000474889.1	+	24	3867	c.3490T>C	c.(3490-3492)Tat>Cat	p.Y1164H	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y1135H|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1164	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y1164H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TAATGCAAAATATGTGGAATG	0.328																																						uc003dlb.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(5)|lung(2)	7						c.(3490-3492)TAT>CAT		protein tyrosine phosphatase, receptor type, G							106.0	106.0	106.0					3																	62261572		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62261572T>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3490T>C	3.37:g.62261572T>C	ENSP00000418112:p.Tyr1164His					PTPRG_uc003dlc.2_Missense_Mutation_p.Y1135H|PTPRG_uc011bfi.1_Missense_Mutation_p.Y410H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.Y1164H	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	24	4209	+			1164			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3490T>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693153	0.30052	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.49432	0.78;0.79	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.056753	0.64402	D	0.000001	T	0.25680	0.0625	N	0.01228	-0.945	0.46298	D	0.998973	B;B;B	0.18310	0.001;0.027;0.013	B;B;B	0.33846	0.001;0.171;0.01	T	0.24154	-1.0168	10	0.16896	T	0.51	.	15.689	0.77436	0.0:0.0:0.0:1.0	.	410;1135;1164	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	1164;1135	ENSP00000418112:Y1164H;ENSP00000295874:Y1135H	ENSP00000295874:Y1135H	Y	+	1	0	PTPRG	62236612	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	5.109000	0.64615	2.111000	0.64477	0.383000	0.25322	TAT		0.328	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		12	32	0	0	0	0	12	32				
PARP15	165631	broad.mit.edu	37	3	122354765	122354765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:122354765C>T	ENST00000464300.2	+	12	1921	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Nonsense_Mutation_p.R316*|PARP15_ENST00000310366.4_Nonsense_Mutation_p.R385*|PARP15_ENST00000483793.1_Nonsense_Mutation_p.R424*	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	619	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTACGTTGTGCGAGTACTTAC	0.478																																						uc003efm.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1855-1857)CGA>TGA		poly (ADP-ribose) polymerase family, member 15							165.0	138.0	147.0					3																	122354765		2203	4300	6503	SO:0001587	stop_gained	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354765C>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1855C>T	3.37:g.122354765C>T	ENSP00000417214:p.Arg619*					PARP15_uc003efn.2_Nonsense_Mutation_p.R424*|PARP15_uc003efo.1_Nonsense_Mutation_p.R366*|PARP15_uc003efp.1_Nonsense_Mutation_p.R385*|PARP15_uc011bjt.1_Nonsense_Mutation_p.R316*	p.R619*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	1921	+			597			PARP catalytic.		J3KR47|Q8N1K3	Nonsense_Mutation	SNP	ENST00000464300.2	37	c.1855C>T	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656138	0.47467	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	.	.	.	3.99	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2151	0.43164	0.0:0.9003:0.0:0.0996	.	.	.	.	X	619;424;366;385;316	.	ENSP00000308436:R385X	R	+	1	2	PARP15	123837455	0.787000	0.28750	0.005000	0.12908	0.204000	0.24138	1.301000	0.33447	0.892000	0.36259	0.650000	0.86243	CGA		0.478	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		4	146	0	0	0	0	4	146				
ZIC4	84107	broad.mit.edu	37	3	147108803	147108803	+	Missense_Mutation	SNP	C	C	T	rs573214910		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:147108803C>T	ENST00000383075.3	-	4	1431	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	ZIC4_ENST00000491672.1_Missense_Mutation_p.V101M|ZIC4_ENST00000425731.3_Missense_Mutation_p.V345M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V357M|ZIC4_ENST00000473123.1_Missense_Mutation_p.V307M|ZIC4_ENST00000484399.1_Missense_Mutation_p.V307M|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	307						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V307M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGGCGACACGAGGGCAGAC	0.687																																						uc003ewd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(919-921)GTG>ATG		zinc finger protein of the cerebellum 4							29.0	36.0	34.0					3																	147108803		2150	4275	6425	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108803C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.919G>A	3.37:g.147108803C>T	ENSP00000372553:p.Val307Met					ZIC4_uc003ewc.1_Missense_Mutation_p.V237M|ZIC4_uc011bno.1_Missense_Mutation_p.V357M	p.V307M	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1192	-			307					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.919G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151978	0.78001	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.12672	2.74;2.67;2.66;2.74;2.74;2.78	5.18	3.31	0.37934	.	0.357068	0.19816	N	0.105425	T	0.16727	0.0402	M	0.64997	1.995	0.34572	D	0.713520	D;P	0.54964	0.969;0.905	P;B	0.46320	0.512;0.366	T	0.20806	-1.0264	9	0.36615	T	0.2	.	7.1262	0.25473	0.1284:0.6775:0.1241:0.07	.	357;307	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	M	307;345;357;307;307;101	ENSP00000372553:V307M;ENSP00000397695:V345M;ENSP00000435509:V357M;ENSP00000417855:V307M;ENSP00000420775:V307M;ENSP00000418277:V101M	ENSP00000372553:V307M	V	-	1	0	ZIC4	148591493	0.925000	0.31364	0.988000	0.46212	0.940000	0.58332	1.869000	0.39519	0.513000	0.28278	0.561000	0.74099	GTG		0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			8	41	0	0	0	0	8	41				
BBS12	166379	broad.mit.edu	37	4	123664753	123664753	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:123664753T>A	ENST00000314218.3	+	2	1899	c.1706T>A	c.(1705-1707)cTg>cAg	p.L569Q	BBS12_ENST00000542236.1_Missense_Mutation_p.L569Q	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	569					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCAGGGTGGCTGCATAATACT	0.433									Bardet-Biedl syndrome																													uc003ieu.2		NA																	0				ovary(2)	2						c.(1705-1707)CTG>CAG		Bardet-Biedl syndrome 12							73.0	72.0	72.0					4																	123664753		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664753T>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1706T>A	4.37:g.123664753T>A	ENSP00000319062:p.Leu569Gln						p.L569Q	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	1899	+			569					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1706T>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238897	0.22711	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.73152	-0.72;-0.72	5.71	1.65	0.23941	.	0.293773	0.28317	N	0.015791	T	0.64702	0.2622	L	0.57536	1.79	0.09310	N	1	B	0.23735	0.09	B	0.31442	0.13	T	0.60100	-0.7329	10	0.66056	D	0.02	-3.8767	7.1945	0.25845	0.0:0.0726:0.2768:0.6505	.	569	Q6ZW61	BBS12_HUMAN	Q	569	ENSP00000319062:L569Q;ENSP00000438273:L569Q	ENSP00000319062:L569Q	L	+	2	0	BBS12	123884203	0.936000	0.31750	0.004000	0.12327	0.008000	0.06430	1.684000	0.37649	0.412000	0.25729	0.482000	0.46254	CTG		0.433	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		7	92	0	0	0	0	7	92				
NEIL3	55247	broad.mit.edu	37	4	178272610	178272610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:178272610A>T	ENST00000264596.3	+	7	1064	c.946A>T	c.(946-948)Aag>Tag	p.K316*	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	316					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.K316*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGTGGCTCGGAAGTCGGAAGA	0.423								Base excision repair (BER), DNA glycosylases																														uc003iut.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(946-948)AAG>TAG	BER_DNA_glycosylases	nei endonuclease VIII-like 3							182.0	167.0	172.0					4																	178272610		2203	4300	6503	SO:0001587	stop_gained	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178272610A>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.946A>T	4.37:g.178272610A>T	ENSP00000264596:p.Lys316*					NEIL3_uc010irs.2_Intron	p.K316*	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	1063	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	316					Q2PPJ3|Q8NG51|Q9NV95	Nonsense_Mutation	SNP	ENST00000264596.3	37	c.946A>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880058	0.72294	.	.	ENSG00000109674	ENST00000264596	.	.	.	5.69	5.69	0.88448	.	0.453052	0.25677	N	0.029034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8609	16.2484	0.82467	1.0:0.0:0.0:0.0	.	.	.	.	X	316	.	ENSP00000264596:K316X	K	+	1	0	NEIL3	178509604	1.000000	0.71417	0.062000	0.19696	0.056000	0.15407	6.011000	0.70760	2.291000	0.77112	0.533000	0.62120	AAG		0.423	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		18	153	0	0	0	0	18	153				
PLCXD3	345557	broad.mit.edu	37	5	41381991	41381991	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:41381991G>T	ENST00000377801.3	-	2	823	c.749C>A	c.(748-750)aCc>aAc	p.T250N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T250N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.T250N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCTTTGGGGGTCAGCACCAC	0.468																																						uc003jmm.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(748-750)ACC>AAC		phosphatidylinositol-specific phospholipase C, X							83.0	88.0	86.0					5																	41381991		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41381991G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.749C>A	5.37:g.41381991G>T	ENSP00000367032:p.Thr250Asn						p.T250N	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	851	-			250					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.749C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485257	0.84854	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.82323	2.585	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	D	0.84704	0.0730	9	0.87932	D	0	-17.6793	20.6593	0.99626	0.0:0.0:1.0:0.0	.	250	Q63HM9	PLCX3_HUMAN	N	250	.	ENSP00000333751:T250N	T	-	2	0	PLCXD3	41417748	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.359000	0.97115	2.885000	0.99019	0.655000	0.94253	ACC		0.468	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		14	110	1	0	4.37e-10	4.96e-10	14	110				
SKP1	6500	broad.mit.edu	37	5	133502896	133502896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:133502896G>A	ENST00000353411.6	-	3	319	c.136C>T	c.(136-138)Cct>Tct	p.P46S	SKP1_ENST00000522552.1_Missense_Mutation_p.P46S|SKP1_ENST00000517625.1_Missense_Mutation_p.P46S|SKP1_ENST00000522855.1_Missense_Mutation_p.P46S|SKP1_ENST00000521216.1_Missense_Mutation_p.P46S|CTD-2410N18.5_ENST00000519718.1_Missense_Mutation_p.P80S	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)	p.P46S(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGTAGAGGAACTGGGTCA	0.313																																						uc003kzc.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(136-138)CCT>TCT		S-phase kinase-associated protein 1 isoform b							90.0	86.0	87.0					5																	133502896		2203	4300	6503	SO:0001583	missense	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133502896G>A	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.136C>T	5.37:g.133502896G>A	ENSP00000231487:p.Pro46Ser					SKP1_uc003kzd.3_Missense_Mutation_p.P46S|SKP1_uc010jdv.2_Missense_Mutation_p.P46S	p.P46S	NM_170679	NP_733779	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	315	-			46					D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	c.136C>T	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986666	0.93106	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417;ENST00000519718	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.77	5.77	0.91146	BTB/POZ fold (2);SKP1 component, POZ (1);	0.000000	0.85682	U	0.000000	T	0.76564	0.4005	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	T	0.80743	-0.1246	10	0.87932	D	0	-1.378	19.9944	0.97379	0.0:0.0:1.0:0.0	.	46;46;46	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	S	46;46;46;46;46;46;46;46;80	ENSP00000231487:P46S;ENSP00000429472:P46S;ENSP00000431067:P46S;ENSP00000429961:P46S;ENSP00000429686:P46S;ENSP00000331708:P46S;ENSP00000429415:P46S;ENSP00000429996:P46S;ENSP00000430774:P80S	ENSP00000331708:P46S	P	-	1	0	SKP1	133530795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	CCT		0.313	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		27	75	0	0	0	0	27	75				
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:135288629C>T	ENST00000274507.1	-	2	274	c.74G>A	c.(73-75)tGt>tAt	p.C25Y	LECT2_ENST00000512872.1_De_novo_Start_OutOfFrame|LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	25					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517																																						uc003lbe.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(73-75)TGT>TAT		leukocyte cell-derived chemotaxin 2 precursor							151.0	142.0	145.0					5																	135288629		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288629C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.74G>A	5.37:g.135288629C>T	ENSP00000274507:p.Cys25Tyr						p.C25Y	NM_002302	NP_002293	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	275	-			25					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	c.74G>A	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469216	0.63625	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	T;T;T	0.09255	3.0;3.0;3.0	5.96	5.1	0.69264	.	0.042993	0.85682	N	0.000000	T	0.31167	0.0788	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.03695	-1.1012	10	0.87932	D	0	-8.5927	10.8827	0.46948	0.0:0.9144:0.0:0.0856	.	25	O14960	LECT2_HUMAN	Y	25	ENSP00000429618:C25Y;ENSP00000274507:C25Y;ENSP00000421123:C25Y	ENSP00000274507:C25Y	C	-	2	0	LECT2	135316528	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	2.712000	0.47186	1.525000	0.49052	0.650000	0.86243	TGT		0.517	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		23	133	0	0	0	0	23	133				
PCDHA4	56144	broad.mit.edu	37	5	140188628	140188628	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:140188628G>A	ENST00000530339.1	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R619H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R619H|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGCGCGCATCCCGTTC	0.672																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1855-1857)CGC>CAC		protocadherin alpha 4 isoform 1 precursor							85.0	85.0	85.0					5																	140188628		2203	4299	6502	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188628G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1856G>A	5.37:g.140188628G>A	ENSP00000435300:p.Arg619His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R619H|PCDHA4_uc011daa.1_Missense_Mutation_p.R619H	p.R619H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1957	+			619			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1856G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	3.125	-0.179793	0.06380	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52526	0.66;0.66;0.66	4.08	1.13	0.20643	Cadherin (4);Cadherin-like (1);	0.386788	0.18677	U	0.134280	T	0.36138	0.0956	L	0.43152	1.355	0.09310	N	1	B;B;B	0.28208	0.203;0.151;0.122	B;B;B	0.30782	0.073;0.12;0.052	T	0.25363	-1.0134	10	0.46703	T	0.11	.	6.5226	0.22283	0.1757:0.1492:0.6751:0.0	.	619;619;619	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	619	ENSP00000423470:R619H;ENSP00000349344:R619H;ENSP00000435300:R619H	ENSP00000349344:R619H	R	+	2	0	PCDHA4	140168812	0.000000	0.05858	0.010000	0.14722	0.011000	0.07611	-2.596000	0.00895	0.300000	0.22699	0.484000	0.47621	CGC		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	106	0	0	0	0	4	106				
RBM27	54439	broad.mit.edu	37	5	145641354	145641354	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:145641354C>T	ENST00000265271.5	+	13	2341	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	RBM27_ENST00000506502.1_Silent_p.H670H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	725					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H725H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGTGCACGGAGGTATCC	0.478																																						uc003lnz.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	central_nervous_system(2)|pancreas(1)	3						c.(2173-2175)CAC>CAT		RNA binding motif protein 27							61.0	54.0	56.0					5																	145641354		1568	3582	5150	SO:0001819	synonymous_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641354C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2175C>T	5.37:g.145641354C>T						RBM27_uc003lny.2_Silent_p.H670H	p.H725H	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2341	+			725					Q8IYW9	Silent	SNP	ENST00000265271.5	37	c.2175C>T	CCDS43378.1																																																																																				0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		21	53	0	0	0	0	21	53				
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T	rs373324958		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:160763740C>T	ENST00000393959.1	-	6	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H	GABRB2_ENST00000520240.1_Missense_Mutation_p.R193H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R193H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R130H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	193					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.R193L(2)|p.R193H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCATCGCCACGCCAGTAAAA	0.353																																						uc003lys.1		NA																	3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)		0						c.(577-579)CGT>CAT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	121.0	120.0	120.0		578,578	5.6	1.0	5		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GABRB2	NM_000813.2,NM_021911.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	193/475,193/513	160763740	1,13005	2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160763740C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.578G>A	5.37:g.160763740C>T	ENSP00000377531:p.Arg193His					GABRB2_uc011deh.1_Missense_Mutation_p.R32H|GABRB2_uc003lyr.1_Missense_Mutation_p.R193H|GABRB2_uc003lyt.1_Missense_Mutation_p.R193H|GABRB2_uc010jiu.1_Missense_Mutation_p.R130H	p.R193H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	796	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	193			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.578G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347030	0.95807	0.0	1.16E-4	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	L	0.58101	1.795	0.80722	D	1	D;B;B;B	0.89917	1.0;0.012;0.376;0.052	D;B;B;B	0.87578	0.998;0.035;0.117;0.033	D	0.86937	0.2077	10	0.59425	D	0.04	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	33;130;193;193	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	193;193;193;193;130;33	ENSP00000377531:R193H;ENSP00000274547:R193H;ENSP00000274546:R193H;ENSP00000429320:R193H;ENSP00000430532:R130H;ENSP00000429750:R33H	ENSP00000274547:R193H	R	-	2	0	GABRB2	160696318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	2.617000	0.88574	0.655000	0.94253	CGT		0.353	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			15	82	0	0	0	0	15	82				
ZNF184	7738	broad.mit.edu	37	6	27419915	27419915	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:27419915T>C	ENST00000211936.6	-	6	1707	c.1423A>G	c.(1423-1425)Aaa>Gaa	p.K475E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K475E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K475E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCATTGCATTTGTAAGGTTTT	0.418																																						uc003njj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1423-1425)AAA>GAA		zinc finger protein 184							78.0	75.0	76.0					6																	27419915		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419915T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1423A>G	6.37:g.27419915T>C	ENSP00000211936:p.Lys475Glu					ZNF184_uc010jqv.2_Missense_Mutation_p.K475E|ZNF184_uc003nji.2_Missense_Mutation_p.K475E	p.K475E	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2234	-			475			C2H2-type 10.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1423A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	5.769	0.326260	0.10900	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.57752	0.38;0.38	5.27	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000069	T	0.11707	0.0285	L	0.31157	0.91	0.27602	N	0.948939	B	0.12630	0.006	B	0.14578	0.011	T	0.33317	-0.9873	10	0.05351	T	0.99	.	3.7102	0.08417	0.0:0.1687:0.1994:0.6319	.	475	Q99676	ZN184_HUMAN	E	475	ENSP00000211936:K475E;ENSP00000366636:K475E	ENSP00000211936:K475E	K	-	1	0	ZNF184	27527894	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.064000	0.11636	2.214000	0.71695	0.533000	0.62120	AAA		0.418	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		5	80	0	0	0	0	5	80				
OR12D3	81797	broad.mit.edu	37	6	29342553	29342553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:29342553T>G	ENST00000396806.3	-	1	515	c.512A>C	c.(511-513)aAa>aCa	p.K171T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K171T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTGATTGAGTTTCTGAGAGCC	0.463																																						uc003nme.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|breast(1)	3						c.(511-513)AAA>ACA		olfactory receptor, family 12, subfamily D,							82.0	82.0	82.0					6																	29342553		1508	2708	4216	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342553T>G		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.512A>C	6.37:g.29342553T>G	ENSP00000380023:p.Lys171Thr						p.K171T	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	516	-			171			Extracellular (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.512A>C	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	4.917	0.170410	0.09391	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00076	8.76	4.18	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.20881	0.62	0.09310	N	1	P	0.37731	0.607	P	0.45138	0.471	T	0.00003	-1.2581	9	0.12103	T	0.63	-0.5355	6.0039	0.19535	0.0:0.0957:0.2156:0.6887	.	171	Q9UGF7	O12D3_HUMAN	T	171	ENSP00000380023:K171T	ENSP00000366348:K171T	K	-	2	0	OR12D3	29450532	0.000000	0.05858	0.018000	0.16275	0.223000	0.24884	-1.809000	0.01731	0.635000	0.30488	0.164000	0.16699	AAA		0.463	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			11	61	0	0	0	0	11	61				
SYNCRIP	10492	broad.mit.edu	37	6	86328627	86328627	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:86328627C>T	ENST00000369622.3	-	10	1689	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.E397K	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	397	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E397K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTTCTCCCTCCAAGTCTTTG	0.318																																						uc003pla.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1189-1191)GAG>AAG		synaptotagmin binding, cytoplasmic RNA							53.0	56.0	55.0					6																	86328627		2202	4299	6501	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86328627C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1189G>A	6.37:g.86328627C>T	ENSP00000358635:p.Glu397Lys					SYNCRIP_uc003pku.2_Missense_Mutation_p.E397K|SYNCRIP_uc003pkw.2_Missense_Mutation_p.E362K|SYNCRIP_uc003pky.2_Missense_Mutation_p.E299K|SYNCRIP_uc003pkv.2_Missense_Mutation_p.E397K|SYNCRIP_uc003pkx.2_Missense_Mutation_p.E245K|SYNCRIP_uc003pkz.2_Missense_Mutation_p.E362K	p.E397K	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	10	1730	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	397			RRM 3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1189G>A	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685435	0.88639	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.15718	2.4;2.4	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044125	0.85682	N	0.000000	T	0.21718	0.0523	N	0.25890	0.77	0.80722	D	1	D;D;D;P;D;D;D	0.61080	0.989;0.984;0.973;0.6;0.984;0.973;0.989	D;D;P;B;D;P;D	0.65874	0.922;0.917;0.871;0.25;0.939;0.786;0.922	T	0.01945	-1.1242	10	0.49607	T	0.09	.	19.7014	0.96054	0.0:1.0:0.0:0.0	.	397;362;299;245;362;397;397	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	K	397	ENSP00000347380:E397K;ENSP00000358635:E397K	ENSP00000347380:E397K	E	-	1	0	SYNCRIP	86385346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.775000	0.85489	2.729000	0.93468	0.655000	0.94253	GAG		0.318	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		4	51	0	0	0	0	4	51				
GPRC6A	222545	broad.mit.edu	37	6	117130586	117130586	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:117130586T>G	ENST00000310357.3	-	2	410	c.389A>C	c.(388-390)aAg>aCg	p.K130T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.K130T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.K130T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	130					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K130T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGTCACACTTAAACTCCAC	0.423																																						uc003pxj.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(2)	6						c.(388-390)AAG>ACG		G protein-coupled receptor, family C, group 6,							99.0	93.0	95.0					6																	117130586		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130586T>G	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.389A>C	6.37:g.117130586T>G	ENSP00000309493:p.Lys130Thr					GPRC6A_uc003pxk.1_Missense_Mutation_p.K130T|GPRC6A_uc003pxl.1_Missense_Mutation_p.K130T	p.K130T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	411	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	130			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.389A>C	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058593	0.36277	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85702	-2.02;-2.02;-2.02	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.815476	0.10768	N	0.636401	T	0.63260	0.2496	N	0.21324	0.655	0.23845	N	0.996684	P;B;B	0.38504	0.634;0.447;0.056	B;B;B	0.39465	0.3;0.196;0.053	T	0.54589	-0.8271	10	0.10111	T	0.7	.	14.5344	0.67950	0.0:0.0:0.0:1.0	.	130;130;130	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	T	130	ENSP00000309493:K130T;ENSP00000357537:K130T;ENSP00000433465:K130T	ENSP00000309493:K130T	K	-	2	0	GPRC6A	117237279	0.880000	0.30214	0.968000	0.41197	0.817000	0.46193	2.115000	0.41921	2.015000	0.59207	0.528000	0.53228	AAG		0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			17	81	0	0	0	0	17	81				
TNFAIP3	7128	broad.mit.edu	37	6	138200423	138200423	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:138200423A>G	ENST00000237289.4	+	7	1907	c.1841A>G	c.(1840-1842)tAt>tGt	p.Y614C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	614	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.Y614C(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGCTGCGTGTATTTTGGGACT	0.542			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NA		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)|upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(1840-1842)TAT>TGT		tumor necrosis factor, alpha-induced protein 3							70.0	76.0	74.0					6																	138200423		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200423A>G	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1841A>G	6.37:g.138200423A>G	ENSP00000237289:p.Tyr614Cys					TNFAIP3_uc003qhs.2_Missense_Mutation_p.Y614C	p.Y614C	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1907	+	Breast(32;0.135)|Colorectal(23;0.24)		614			Interaction with NAF1 (By similarity).|A20-type 4.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1841A>G	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592424	0.66219	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.43688	0.94	5.82	4.62	0.57501	Zinc finger, A20-type (3);	0.272836	0.41938	D	0.000783	T	0.43853	0.1266	L	0.57536	1.79	0.46631	D	0.999131	D	0.64830	0.994	P	0.60345	0.873	T	0.44847	-0.9301	10	0.56958	D	0.05	-21.0574	9.7904	0.40702	0.7267:0.0:0.0:0.2733	.	614	P21580	TNAP3_HUMAN	C	614	ENSP00000237289:Y614C	ENSP00000237289:Y614C	Y	+	2	0	TNFAIP3	138242116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	2.224000	0.72417	0.533000	0.62120	TAT		0.542	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			15	95	0	0	0	0	15	95				
RADIL	55698	broad.mit.edu	37	7	4856927	4856927	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:4856927C>T	ENST00000399583.3	-	7	1858	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	RADIL_ENST00000538469.1_Silent_p.A317A|RADIL_ENST00000536091.1_Missense_Mutation_p.G504S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	557	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.A557A(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCCAGCACCGCCATGGCCT	0.642																																						uc003snj.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1669-1671)GCG>GCA		Rap GTPase interactor							57.0	63.0	61.0					7																	4856927		2202	4299	6501	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856927C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1671G>A	7.37:g.4856927C>T						RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.A62A|RADIL_uc011jwc.1_Silent_p.A317A|RADIL_uc011jwd.1_RNA	p.A557A	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	7	1844	-		Ovarian(82;0.0175)	557			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.1671G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	c	9.062	0.994725	0.19043	.	.	ENSG00000157927	ENST00000536091	T	0.25250	1.81	5.7	-3.52	0.04682	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.23454	N	0.997647	.	.	.	.	.	.	T	0.33420	-0.9869	6	0.87932	D	0	-41.4479	0.8519	0.01174	0.2024:0.2484:0.2977:0.2515	.	.	.	.	S	504	ENSP00000442533:G504S	ENSP00000442533:G504S	G	-	1	0	RADIL	4823453	0.000000	0.05858	0.901000	0.35422	0.765000	0.43378	-3.436000	0.00471	-0.818000	0.04329	-0.461000	0.05368	GGT		0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		21	44	0	0	0	0	21	44				
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:11630169C>T	ENST00000423059.4	-	4	1622	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G457G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552										HNSCC(18;0.044)																												uc003ssf.3		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(3)	3						c.(1369-1371)GGG>GGA		thrombospondin, type I, domain containing 7A							60.0	66.0	64.0					7																	11630169		1963	4153	6116	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11630169C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1371G>A	7.37:g.11630169C>T		HNSCC(18;0.044)					p.G457G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1623	-			457			Extracellular (Potential).|TSP type-1 4.			Silent	SNP	ENST00000423059.4	37	c.1371G>A	CCDS47543.1																																																																																				0.552	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	48	0	0	0	0	10	48				
EGFR	1956	broad.mit.edu	37	7	55227956	55227956	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:55227956A>G	ENST00000275493.2	+	12	1600	c.1423A>G	c.(1423-1425)Ata>Gta	p.I475V	EGFR_ENST00000455089.1_Missense_Mutation_p.I430V|EGFR_ENST00000344576.2_Missense_Mutation_p.I475V|EGFR_ENST00000342916.3_Missense_Mutation_p.I475V|EGFR_ENST00000442591.1_Missense_Mutation_p.I475V|EGFR_ENST00000454757.2_Missense_Mutation_p.I422V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	475					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.I475V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCAAATACAATAAACTGGAA	0.393		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1423-1425)ATA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						70.0	70.0	70.0					7																	55227956		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55227956A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1423A>G	7.37:g.55227956A>G	ENSP00000275493:p.Ile475Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.I475V|EGFR_uc003tqj.2_Missense_Mutation_p.I475V|EGFR_uc010kzg.1_Missense_Mutation_p.I430V|EGFR_uc011kco.1_Missense_Mutation_p.I422V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	p.I475V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		12	1669	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		475			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1423A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	3.702	-0.061425	0.07317	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.67	4.52	0.55395	EGF receptor, L domain (1);	0.245034	0.52532	N	0.000075	T	0.28034	0.0691	L	0.37800	1.135	0.27163	N	0.961104	B;B;B;B	0.18461	0.001;0.001;0.028;0.0	B;B;B;B	0.19666	0.011;0.017;0.026;0.004	T	0.28870	-1.0030	10	0.02654	T	1	.	10.3323	0.43829	0.9226:0.0:0.0774:0.0	.	430;475;475;475	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	430;475;345;475;475;475;422;269	ENSP00000415559:I430V;ENSP00000342376:I475V;ENSP00000345973:I475V;ENSP00000275493:I475V;ENSP00000410031:I475V;ENSP00000395243:I422V	ENSP00000275493:I475V	I	+	1	0	EGFR	55195450	0.895000	0.30542	0.935000	0.37517	0.998000	0.95712	2.102000	0.41796	0.988000	0.38734	0.533000	0.62120	ATA		0.393	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		21	46	0	0	0	0	21	46				
TMEM243	79161	broad.mit.edu	37	7	86826067	86826067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:86826067C>T	ENST00000433078.1	-	5	683	c.242G>A	c.(241-243)tGg>tAg	p.W81*	TMEM243_ENST00000257637.3_Nonsense_Mutation_p.W81*|TMEM243_ENST00000481425.1_5'UTR			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	81						integral component of membrane (GO:0016021)		p.W81*(1)									TTGTCGATACCAGTAGATCTA	0.264																																						uc003uio.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(241-243)TGG>TAG		chromosome 7 open reading frame 23							51.0	51.0	51.0					7																	86826067		2202	4297	6499	SO:0001587	stop_gained	79161					integral to membrane		g.chr7:86826067C>T		CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.242G>A	7.37:g.86826067C>T	ENSP00000398083:p.Trp81*	HNSCC(41;0.11)					p.W81*	NM_024315	NP_077291	Q9BU79	CG023_HUMAN			4	454	-	Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192)		81			Helical; (Potential).		A4D1C6|B2R9I4|D6W5P1	Nonsense_Mutation	SNP	ENST00000433078.1	37	c.242G>A	CCDS5602.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087111	0.94100	.	.	ENSG00000135185	ENST00000257637;ENST00000433078	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5254	0.95203	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000257637:W81X	W	-	2	0	C7orf23	86664003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TGG		0.264	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		13	47	0	0	0	0	13	47				
PPP1R3A	5506	broad.mit.edu	37	7	113520174	113520174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:113520174G>T	ENST00000284601.3	-	4	1041	c.973C>A	c.(973-975)Caa>Aaa	p.Q325K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	325					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.Q325K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAAGTGTTGATTTATCTTA	0.299																																						uc010ljy.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(973-975)CAA>AAA		protein phosphatase 1, regulatory (inhibitor)							65.0	65.0	65.0					7																	113520174		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113520174G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.973C>A	7.37:g.113520174G>T	ENSP00000284601:p.Gln325Lys						p.Q325K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1004	-			325					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.973C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471685	0.63737	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.38077	2.16;1.16	5.41	3.47	0.39725	.	0.348752	0.23995	N	0.042539	T	0.45418	0.1341	M	0.69823	2.125	0.31486	N	0.666531	D	0.56521	0.976	P	0.47206	0.541	T	0.62305	-0.6882	10	0.87932	D	0	-3.1361	15.4287	0.75075	0.0:0.3804:0.6196:0.0	.	325	Q16821	PPR3A_HUMAN	K	325;4	ENSP00000284601:Q325K;ENSP00000401278:Q4K	ENSP00000284601:Q325K	Q	-	1	0	PPP1R3A	113307410	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	1.758000	0.38410	1.406000	0.46857	0.650000	0.86243	CAA		0.299	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		9	78	1	0	0.000274275	0.000290766	9	78				
GRM8	2918	broad.mit.edu	37	7	126882877	126882877	+	Missense_Mutation	SNP	C	C	A	rs200579683		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:126882877C>A	ENST00000339582.2	-	2	1190	c.382G>T	c.(382-384)Gct>Tct	p.A128S	GRM8_ENST00000358373.3_Missense_Mutation_p.A128S|GRM8_ENST00000405249.1_Missense_Mutation_p.A128S|GRM8_ENST00000444921.2_Missense_Mutation_p.A128S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	128					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)	p.A128P(2)|p.A128S(1)		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)				ACATCCGAAGCATCTTTCTCT	0.502										HNSCC(24;0.065)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		19996	0.0		0.0	False		,,,				2504	0.0					uc003vlr.2		NA																	3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(382-384)GCT>TCT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						158.0	129.0	139.0					7																	126882877		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882877C>A		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.382G>T	7.37:g.126882877C>A	ENSP00000344173:p.Ala128Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A128S|GRM8_uc010lkz.1_RNA	p.A128S	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	693	-		Prostate(267;0.186)	128			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.382G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592994	0.28357	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.91295	-2.3;-2.3;-2.38;-2.42;-2.82	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.134734	0.49305	D	0.000149	D	0.83815	0.5336	N	0.19112	0.55	0.34813	D	0.737928	B;B	0.13594	0.008;0.0	B;B	0.15052	0.012;0.004	T	0.80558	-0.1329	10	0.12766	T	0.61	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	128;128	O00222-2;O00222	.;GRM8_HUMAN	S	128	ENSP00000344173:A128S;ENSP00000409790:A128S;ENSP00000351142:A128S;ENSP00000385731:A128S;ENSP00000415522:A128S	ENSP00000344173:A128S	A	-	1	0	GRM8	126670113	0.999000	0.42202	0.964000	0.40570	0.984000	0.73092	3.995000	0.57001	2.646000	0.89796	0.650000	0.86243	GCT		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			9	81	1	0	1.13e-05	1.25e-05	9	81				
EXOC4	60412	broad.mit.edu	37	7	133602486	133602486	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:133602486C>G	ENST00000253861.4	+	13	2051	c.2022C>G	c.(2020-2022)ttC>ttG	p.F674L	EXOC4_ENST00000545148.1_Missense_Mutation_p.F284L|EXOC4_ENST00000539845.1_Missense_Mutation_p.F573L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	674					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGAAGATTTCATAAGGTAAA	0.358																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2020-2022)TTC>TTG		SEC8 protein isoform a							76.0	68.0	70.0					7																	133602486		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133602486C>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2022C>G	7.37:g.133602486C>G	ENSP00000253861:p.Phe674Leu					EXOC4_uc011kpo.1_Missense_Mutation_p.F573L|EXOC4_uc003vrl.2_Missense_Mutation_p.F284L|EXOC4_uc011kpp.1_Missense_Mutation_p.F206L	p.F674L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			13	2057	+		Esophageal squamous(399;0.129)	674					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2022C>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553178	0.45487	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.5	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.44542	1.39	0.80722	D	1	B;B;P	0.34699	0.29;0.01;0.464	B;B;B	0.31101	0.07;0.007;0.124	T	0.13335	-1.0513	9	0.28530	T	0.3	.	9.5952	0.39569	0.0:0.6007:0.0:0.3993	.	206;284;674	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	L	674;293;573;284	.	ENSP00000253861:F674L	F	+	3	2	EXOC4	133253026	0.995000	0.38212	1.000000	0.80357	0.925000	0.55904	0.350000	0.20079	0.699000	0.31761	0.655000	0.94253	TTC		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		5	60	0	0	0	0	5	60				
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1264-1266)CCC>TCC		notch1 preproprotein							31.0	35.0	34.0					9																	139412381		2190	4285	6475	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412381G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1264C>T	9.37:g.139412381G>A	ENSP00000277541:p.Pro422Ser	HNSCC(8;0.001)					p.P422S	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1264	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	422			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1264C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516376	0.85495	.	.	ENSG00000148400	ENST00000277541	D	0.96041	-3.89	4.69	4.69	0.59074	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97337	0.9129	M	0.83852	2.665	0.80722	D	1	P	0.50710	0.938	P	0.59643	0.861	D	0.97827	1.0260	10	0.56958	D	0.05	.	16.5828	0.84718	0.0:0.0:1.0:0.0	.	422	P46531	NOTC1_HUMAN	S	422	ENSP00000277541:P422S	ENSP00000277541:P422S	P	-	1	0	NOTCH1	138532202	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.635000	0.98437	2.161000	0.67846	0.462000	0.41574	CCC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		17	35	0	0	0	0	17	35				
USP9X	8239	broad.mit.edu	37	X	41007737	41007737	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:41007737G>T	ENST00000324545.8	+	12	2168	c.1535G>T	c.(1534-1536)tGg>tTg	p.W512L	USP9X_ENST00000378308.2_Missense_Mutation_p.W512L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	512					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.W505L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACCTTCTGTGGAATCTGGCT	0.448																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(3)|breast(2)|ovary(1)	6						c.(1534-1536)TGG>TTG		ubiquitin specific protease 9, X-linked isoform							218.0	190.0	199.0					X																	41007737		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41007737G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1535G>T	X.37:g.41007737G>T	ENSP00000316357:p.Trp512Leu					USP9X_uc004dfc.2_Missense_Mutation_p.W512L	p.W512L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			12	2168	+			512					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1535G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775856	0.90195	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.63580	-0.05;-0.05	5.27	5.27	0.74061	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80997	-0.1132	10	0.59425	D	0.04	.	18.0018	0.89199	0.0:0.0:1.0:0.0	.	512;512	Q93008-1;Q93008	.;USP9X_HUMAN	L	512	ENSP00000367558:W512L;ENSP00000316357:W512L	ENSP00000316357:W512L	W	+	2	0	USP9X	40892681	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.298000	0.96132	2.185000	0.69588	0.538000	0.68166	TGG		0.448	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		20	140	1	0	1.96e-10	2.24e-10	20	140				
ATRX	546	broad.mit.edu	37	X	76872192	76872192	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:76872192C>G	ENST00000373344.5	-	22	5669	c.5455G>C	c.(5455-5457)Gat>Cat	p.D1819H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1781H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1819					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCTGTATAATCTTTCCTCTGT	0.303			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5455-5457)GAT>CAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						97.0	86.0	90.0					X																	76872192		2203	4291	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872192C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5455G>C	X.37:g.76872192C>G	ENSP00000362441:p.Asp1819His					ATRX_uc004ecq.3_Missense_Mutation_p.D1781H|ATRX_uc004eco.3_Missense_Mutation_p.D1604H	p.D1819H	NM_000489	NP_000480	P46100	ATRX_HUMAN			22	5687	-			1819					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5455G>C	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.467991|4.467991	0.84533|0.84533	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|D	0.93019|0.93189	-3.15;-3.15|-3.18	5.66|5.66	5.66|5.66	0.87406|0.87406	SNF2-related (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.97629|0.97629	0.9223|0.9223	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.98485|0.98485	1.0607|1.0607	10|7	0.87932|0.87932	D|D	0|0	-11.8085|-11.8085	18.7434|18.7434	0.91782|0.91782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1781;1819|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	H|N	1819;1781|107	ENSP00000362441:D1819H;ENSP00000378967:D1781H|ENSP00000383663:K107N	ENSP00000362441:D1819H|ENSP00000383663:K107N	D|K	-|-	1|3	0|2	ATRX|ATRX	76758848|76758848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.459000|7.459000	0.80802|0.80802	2.372000|2.372000	0.80975|0.80975	0.544000|0.544000	0.68410|0.68410	GAT|AAG		0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		26	108	0	0	0	0	26	108				
CHM	1121	broad.mit.edu	37	X	85119736	85119736	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:85119736A>T	ENST00000357749.2	-	15	1890	c.1861T>A	c.(1861-1863)Tta>Ata	p.L621I	CHM_ENST00000537751.1_Missense_Mutation_p.L473I|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	621					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTGGCTGTAAACTGTCTCCA	0.478																																						uc004eet.2		NA																	0				ovary(1)	1						c.(1861-1863)TTA>ATA		choroideremia isoform a							80.0	65.0	70.0					X																	85119736		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85119736A>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1861T>A	X.37:g.85119736A>T	ENSP00000350386:p.Leu621Ile					CHM_uc011mqz.1_Missense_Mutation_p.L473I	p.L621I	NM_000390	NP_000381	P24386	RAE1_HUMAN			15	1891	-		all_lung(315;5.41e-06)	621					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1861T>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.567576	0.28003	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.88354	-2.37;-2.07	4.86	0.429	0.16506	.	0.992137	0.08190	N	0.984107	T	0.77916	0.4202	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63932	-0.6525	10	0.37606	T	0.19	1.1228	5.3455	0.16006	0.4261:0.3387:0.0:0.2352	.	621	P24386	RAE1_HUMAN	I	621;473	ENSP00000350386:L621I;ENSP00000441728:L473I	ENSP00000350386:L621I	L	-	1	2	CHM	85006392	0.005000	0.15991	0.064000	0.19789	0.127000	0.20565	0.029000	0.13666	0.511000	0.28236	0.412000	0.27726	TTA		0.478	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		8	34	0	0	0	0	8	34				
PCDH11X	27328	broad.mit.edu	37	X	91132915	91132915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:91132915G>C	ENST00000373094.1	+	2	2521	c.1676G>C	c.(1675-1677)aGc>aCc	p.S559T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S559T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S559T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.S559T(2)		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						GTCTTTGTAAGCATTATTGAT	0.373																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	large_intestine(2)	2						c.(1675-1677)AGC>ACC		protocadherin 11 X-linked isoform c							76.0	74.0	75.0					X																	91132915		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132915G>C	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.1676G>C	X.37:g.91132915G>C	ENSP00000362186:p.Ser559Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.S559T|PCDH11X_uc004efo.1_Missense_Mutation_p.S559T|PCDH11X_uc010nmv.1_Missense_Mutation_p.S559T|PCDH11X_uc004efm.1_Missense_Mutation_p.S559T|PCDH11X_uc004efn.1_Missense_Mutation_p.S559T|PCDH11X_uc004efh.1_Missense_Mutation_p.S559T|PCDH11X_uc004efj.1_Missense_Mutation_p.S559T	p.S559T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2521	+			559			Cadherin 5.|Extracellular (Potential).		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.1676G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.919819	0.00003	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.22	3.45	0.39498	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.247102	0.41500	N	0.000874	T	0.14700	0.0355	N	0.00754	-1.215	0.24851	N	0.992407	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.001;0.002;0.002;0.002;0.004;0.002;0.002	T	0.33059	-0.9883	10	0.02654	T	1	.	10.4553	0.44546	0.1481:0.7085:0.1434:0.0	.	559;559;559;559;559;559;559;559	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	559	ENSP00000378746:S559T;ENSP00000362186:S559T;ENSP00000362189:S559T;ENSP00000355040:S559T;ENSP00000362180:S559T;ENSP00000423762:S559T;ENSP00000355105:S559T;ENSP00000384758:S559T;ENSP00000298274:S559T	ENSP00000298274:S559T	S	+	2	0	PCDH11X	91019571	0.996000	0.38824	0.021000	0.16686	0.005000	0.04900	3.032000	0.49736	0.418000	0.25898	-1.585000	0.00851	AGC		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		33	165	0	0	0	0	33	165				
SRPX2	27286	broad.mit.edu	37	X	99917202	99917202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:99917202C>T	ENST00000373004.3	+	4	621	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	65					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.Q65*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATTAAATATCCAGGATGGAGA	0.468																																						uc004egb.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(193-195)CAG>TAG		sushi-repeat-containing protein, X-linked 2							79.0	69.0	73.0					X																	99917202		2203	4300	6503	SO:0001587	stop_gained	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917202C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.193C>T	X.37:g.99917202C>T	ENSP00000362095:p.Gln65*						p.Q65*	NM_014467	NP_055282	O60687	SRPX2_HUMAN			4	673	+			65					B3KQT3|Q8WW85	Nonsense_Mutation	SNP	ENST00000373004.3	37	c.193C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	39	7.719483	0.98453	.	.	ENSG00000102359	ENST00000373004	.	.	.	5.07	5.07	0.68467	.	0.287377	0.38436	N	0.001694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6301	8.4289	0.32746	0.1531:0.7643:0.0:0.0826	.	.	.	.	X	65	.	.	Q	+	1	0	SRPX2	99803858	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.729000	0.26028	2.244000	0.73946	0.523000	0.50628	CAG		0.468	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		25	101	0	0	0	0	25	101				
AMOT	154796	broad.mit.edu	37	X	112058641	112058641	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:112058641C>T	ENST00000524145.1	-	3	1411	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	AMOT_ENST00000371962.1_Missense_Mutation_p.R214Q|AMOT_ENST00000304758.1_Missense_Mutation_p.R37Q|AMOT_ENST00000371959.3_Missense_Mutation_p.R446Q|AMOT_ENST00000371958.1_Missense_Mutation_p.R214Q			Q4VCS5	AMOT_HUMAN	angiomotin	446					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTCAAGTTCCGGTTCTCGTC	0.498																																						uc004epr.2		NA																	0				ovary(1)	1						c.(1336-1338)CGG>CAG		angiomotin isoform 1							234.0	211.0	219.0					X																	112058641		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058641C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1337G>A	X.37:g.112058641C>T	ENSP00000429013:p.Arg446Gln					AMOT_uc004eps.2_Missense_Mutation_p.R37Q|AMOT_uc004ept.1_Missense_Mutation_p.R446Q	p.R446Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			2	1337	-			446			Potential.		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1337G>A	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513347	0.64522	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.21543	2.0;2.06;2.06;2.06;2.06	5.45	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.62016	1.91	0.44048	D	0.996787	B	0.26002	0.139	B	0.15484	0.013	T	0.03202	-1.1061	10	0.21540	T	0.41	-11.8815	12.3878	0.55343	0.0:0.9183:0.0:0.0817	.	446	Q4VCS5	AMOT_HUMAN	Q	37;446;214;446;214	ENSP00000305557:R37Q;ENSP00000361027:R446Q;ENSP00000361030:R214Q;ENSP00000429013:R446Q;ENSP00000361026:R214Q	ENSP00000305557:R37Q	R	-	2	0	AMOT	111945297	0.993000	0.37304	0.646000	0.29493	0.913000	0.54294	3.223000	0.51231	1.282000	0.44496	0.600000	0.82982	CGG		0.498	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		75	316	0	0	0	0	75	316				
USP26	83844	broad.mit.edu	37	X	132159533	132159533	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:132159533C>A	ENST00000511190.1	-	6	3185	c.2716G>T	c.(2716-2718)Gta>Tta	p.V906L	USP26_ENST00000370832.1_Missense_Mutation_p.V906L|USP26_ENST00000406273.1_Missense_Mutation_p.V906L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	906					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.V906L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCTCCTCTACCTCCTTGCTA	0.448																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(2716-2718)GTA>TTA		ubiquitin-specific protease 26							141.0	104.0	117.0					X																	132159533		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159533C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2716G>T	X.37:g.132159533C>A	ENSP00000423390:p.Val906Leu					USP26_uc011mvf.1_Missense_Mutation_p.V906L	p.V906L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	3186	-	Acute lymphoblastic leukemia(192;0.000127)		906					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2716G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459975	0.12342	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.58358	0.34;0.34;0.34	3.68	0.957	0.19613	.	.	.	.	.	T	0.31389	0.0795	N	0.17082	0.46	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.17992	-1.0351	9	0.30854	T	0.27	0.6517	5.4512	0.16566	0.0:0.6051:0.0:0.3949	.	906	Q9BXU7	UBP26_HUMAN	L	906	ENSP00000359869:V906L;ENSP00000423390:V906L;ENSP00000384360:V906L	ENSP00000359869:V906L	V	-	1	0	USP26	131987199	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.194000	0.09559	0.060000	0.16281	-0.312000	0.09012	GTA		0.448	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		18	99	1	0	1.68e-08	1.89e-08	18	99				
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:135098865T>A	ENST00000370698.3	+	10	1237	c.1202T>A	c.(1201-1203)cTg>cAg	p.L401Q	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L433Q|SLC9A6_ENST00000370701.1_Missense_Mutation_p.L381Q	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333																																						uc004ezj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1201-1203)CTG>CAG		solute carrier family 9 (sodium/hydrogen							130.0	111.0	117.0					X																	135098865		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135098865T>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1202T>A	X.37:g.135098865T>A	ENSP00000359732:p.Leu401Gln					SLC9A6_uc004ezk.2_Missense_Mutation_p.L433Q	p.L401Q	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			10	1278	+	Acute lymphoblastic leukemia(192;0.000127)		401			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1202T>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252193	0.80135	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.20598	2.06;2.06;2.06	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.54447	0.1859	M	0.91818	3.245	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.79108	0.964;0.992	T	0.64101	-0.6486	10	0.54805	T	0.06	.	14.0301	0.64610	0.0:0.0:0.0:1.0	.	433;401	Q92581-2;Q92581	.;SL9A6_HUMAN	Q	381;401;433	ENSP00000359735:L381Q;ENSP00000359732:L401Q;ENSP00000359729:L433Q	ENSP00000359729:L433Q	L	+	2	0	SLC9A6	134926531	0.996000	0.38824	1.000000	0.80357	0.865000	0.49528	7.698000	0.84413	1.911000	0.55334	0.486000	0.48141	CTG		0.333	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		8	119	0	0	0	0	8	119				
MAGEC1	9947	broad.mit.edu	37	X	140995932	140995932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:140995932G>C	ENST00000285879.4	+	4	3028	c.2742G>C	c.(2740-2742)gaG>gaC	p.E914D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	914	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E914D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGACGAGTTGGCGCGGT	0.493										HNSCC(15;0.026)																												uc004fbt.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2740-2742)GAG>GAC		melanoma antigen family C, 1							170.0	167.0	168.0					X																	140995932		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995932G>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2742G>C	X.37:g.140995932G>C	ENSP00000285879:p.Glu914Asp	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.E914D	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3028	+	Acute lymphoblastic leukemia(192;6.56e-05)		914			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2742G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	8.295	0.818647	0.16607	.	.	ENSG00000155495	ENST00000285879	T	0.02140	4.43	0.837	-1.67	0.08238	.	.	.	.	.	T	0.01870	0.0059	L	0.34521	1.04	0.09310	N	0.999999	B	0.13594	0.008	B	0.12837	0.008	T	0.45101	-0.9284	8	0.37606	T	0.19	.	.	.	.	.	914	O60732	MAGC1_HUMAN	D	914	ENSP00000285879:E914D	ENSP00000285879:E914D	E	+	3	2	MAGEC1	140823598	0.002000	0.14202	0.049000	0.19019	0.213000	0.24496	-0.415000	0.07106	-0.507000	0.06549	0.279000	0.19357	GAG		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		30	321	0	0	0	0	30	321				
L1CAM	3897	broad.mit.edu	37	X	153130403	153130403	+	Silent	SNP	G	G	A	rs375705679		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153130403G>A	ENST00000370060.1	-	23	3108	c.2919C>T	c.(2917-2919)ccC>ccT	p.P973P	L1CAM_ENST00000370055.1_Silent_p.P968P|L1CAM_ENST00000538883.1_Silent_p.P975P|L1CAM_ENST00000361981.3_Silent_p.P968P|L1CAM_ENST00000361699.4_Silent_p.P973P|L1CAM_ENST00000370057.3_Silent_p.P973P|L1CAM_ENST00000543994.1_Silent_p.P975P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	973	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.P973P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGAAGTTCGGGGTCCCGAA	0.642																																						uc004fjb.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(8)|central_nervous_system(1)	9						c.(2917-2919)CCC>CCT		L1 cell adhesion molecule isoform 1 precursor		G	,,	0,3835		0,0,1632,571	149.0	126.0	134.0		2919,2904,2919	-10.3	0.0	X		134	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	973/1258,968/1249,973/1254	153130403	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130403G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2919C>T	X.37:g.153130403G>A						L1CAM_uc004fjc.2_Silent_p.P973P|L1CAM_uc010nuo.2_Silent_p.P968P	p.P973P	NM_000425	NP_000416	P32004	L1CAM_HUMAN			22	3027	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		973			Extracellular (Potential).|Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.2919C>T	CCDS14733.1																																																																																				0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		44	281	0	0	0	0	44	281				
PLXNA3	55558	broad.mit.edu	37	X	153698457	153698457	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153698457C>T	ENST00000369682.3	+	29	5108	c.4933C>T	c.(4933-4935)Cgt>Tgt	p.R1645C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1645					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.R1645C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGGGGACCGTGGCAGCAA	0.627																																						uc004flm.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4933-4935)CGT>TGT		plexin A3 precursor							72.0	60.0	64.0					X																	153698457		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698457C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4933C>T	X.37:g.153698457C>T	ENSP00000358696:p.Arg1645Cys						p.R1645C	NM_017514	NP_059984	P51805	PLXA3_HUMAN			29	5106	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1645			Cytoplasmic (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4933C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582838	0.86748	.	.	ENSG00000130827	ENST00000369682	T	0.15834	2.39	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60596	-0.7232	10	0.87932	D	0	.	16.1856	0.81948	0.0:1.0:0.0:0.0	.	1645	P51805	PLXA3_HUMAN	C	1645	ENSP00000358696:R1645C	ENSP00000358696:R1645C	R	+	1	0	PLXNA3	153351651	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.237000	0.51344	2.072000	0.62099	0.529000	0.55759	CGT		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		21	82	0	0	0	0	21	82				
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	3'UTR	INS	-	-	C	rs72337199|rs66701434|rs373439915	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:50534969_50534970insC	ENST00000374144.3	+	0	4667_4668				C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						CAAAACAAGCAacacacacaca	0.5																																						uc010qgp.1		NA																	1	Unknown(1)		prostate(1)		0						c.(2068-2070)AACfs		hypothetical protein LOC118461 isoform 2																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534969_50534970insC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*72->C	10.37:g.50534969_50534970insC							p.N690fs	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			4	2407_2408	+			690					A0AVL8	Frame_Shift_Ins	INS	ENST00000374144.3	37	c.2068_2069insC	CCDS44387.1																																																																																				0.500	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		2	4	NA	NA	NA	NA	2	4	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79943084	79943091	+	Frame_Shift_Del	DEL	CTGTTCTA	CTGTTCTA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:79943084_79943091delCTGTTCTA	ENST00000438737.2	-	6	1109_1116	c.669_676delTAGAACAG	c.(667-678)gatagaacagatfs	p.DRTD223fs	RBM26_ENST00000438724.1_Frame_Shift_Del_p.DRTD223fs|RBM26_ENST00000267229.7_Frame_Shift_Del_p.DRTD223fs|RBM26_ENST00000461008.1_5'Flank			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	223					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTAATGGATCTGTTCTATCCAGGTCAT	0.351																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(667-678)GATAGAACAGATfs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79943084_79943091delCTGTTCTA	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.669_676delTAGAACAG	13.37:g.79943084_79943091delCTGTTCTA	ENSP00000387531:p.Asp223fs					RBM26_uc001vky.2_Frame_Shift_Del_p.D223fs|RBM26_uc001vla.2_Frame_Shift_Del_p.D223fs|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	p.D223fs	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	6	683_690	-		Acute lymphoblastic leukemia(28;0.0279)	223_226					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Del	DEL	ENST00000438737.2	37	c.669_676delTAGAACAG																																																																																					0.351	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		8	158	NA	NA	NA	NA	8	158	---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43658711	43658712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43658711_43658712insT	ENST00000396976.2	-	3	952_953	c.818_819insA	c.(817-819)catfs	p.H273fs	ZSCAN29_ENST00000562072.1_Frame_Shift_Ins_p.H272fs|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	273					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTGTTCCTATGGCAGTTTCT	0.545																																						uc001zrk.1		NA																	0				skin(1)	1						c.(817-819)CATfs		zinc finger protein 690																																				SO:0001589	frameshift_variant	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658711_43658712insT	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.819dupA	15.37:g.43658712_43658712dupT	ENSP00000380174:p.His273fs					ZSCAN29_uc001zrj.1_Frame_Shift_Ins_p.H153fs|ZSCAN29_uc010bdf.1_Frame_Shift_Ins_p.H272fs|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Frame_Shift_Ins_p.H272fs	p.H273fs	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	965_966	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	273					B3KVB9|Q32M75|Q32M76|Q8NA40	Frame_Shift_Ins	INS	ENST00000396976.2	37	c.818_819insA	CCDS10095.2																																																																																				0.545	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		21	123	NA	NA	NA	NA	21	123	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141164513	141164514	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:141164513_141164514delCA	ENST00000514251.1	+	4	3562_3563	c.3283_3284delCA	c.(3283-3285)cacfs	p.H1095fs	ZBTB38_ENST00000321464.5_Frame_Shift_Del_p.H1096fs|ZBTB38_ENST00000441582.2_Frame_Shift_Del_p.H1095fs					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAGCGTTACCACTGTCAGTTC	0.455																																						uc003etw.2		NA																	0				ovary(3)	3						c.(3283-3285)CACfs		zinc finger and BTB domain containing 38																																				SO:0001589	frameshift_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164513_141164514delCA	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3283_3284delCA	3.37:g.141164513_141164514delCA	ENSP00000426387:p.His1095fs					ZBTB38_uc010hun.2_Frame_Shift_Del_p.H1092fs|ZBTB38_uc010huo.2_Frame_Shift_Del_p.H1095fs|ZBTB38_uc003ety.2_Frame_Shift_Del_p.H1095fs|ZBTB38_uc010hup.2_Frame_Shift_Del_p.H1096fs	p.H1095fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	4265_4266	+			1095			C2H2-type 9.			Frame_Shift_Del	DEL	ENST00000514251.1	37	c.3283_3284delCA	CCDS43157.1																																																																																				0.455	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			30	87	NA	NA	NA	NA	30	87	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135649949	135649949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr8:135649949delA	ENST00000377838.3	-	3	377	c.203delT	c.(202-204)ttgfs	p.L68fs	ZFAT_ENST00000520214.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000520727.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.L56fs	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	68					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCATGACCAAAAACTCTAC	0.517																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(202-204)TTGfs		zinc finger protein 406 isoform ZFAT-1							88.0	81.0	83.0					8																	135649949		1959	4147	6106	SO:0001589	frameshift_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649949delA	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.203delT	8.37:g.135649949delA	ENSP00000367069:p.Leu68fs					ZFAT_uc003yun.2_Frame_Shift_Del_p.L56fs|ZFAT_uc003yuo.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010meh.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Frame_Shift_Del_p.L56fs|ZFAT_uc010mej.2_Frame_Shift_Del_p.L68fs|ZFAT_uc003yur.2_Frame_Shift_Del_p.L56fs	p.L68fs	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		3	378	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		68					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Frame_Shift_Del	DEL	ENST00000377838.3	37	c.203delT	CCDS47924.1																																																																																				0.517	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		7	171	NA	NA	NA	NA	7	171	---	---	---	---
