#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLCH2	9651	broad.mit.edu	37	1	2419131	2419131	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:2419131C>T	ENST00000419816.2	+	8	1483	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	PLCH2_ENST00000378486.3_Silent_p.I403I|PLCH2_ENST00000378488.3_Silent_p.I403I|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Silent_p.I376I			O75038	PLCH2_HUMAN	phospholipase C, eta 2	403	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.I250I(1)|p.I403I(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGAAACCATCAACAAATATG	0.572																																							uc001aji.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1207-1209)ATC>ATT		phospholipase C, eta 2							52.0	56.0	54.0					1																	2419131		1993	4174	6167	SO:0001819	synonymous_variant	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419131C>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1209C>T	1.37:g.2419131C>T						PLCH2_uc010nyz.1_Silent_p.I191I|PLCH2_uc009vle.1_Silent_p.I191I|PLCH2_uc001ajj.1_Silent_p.I191I|PLCH2_uc001ajk.1_Silent_p.I191I	p.I403I	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1483	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	403			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	37	c.1209C>T																																																																																					0.572	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		11	19	0	0	0	0.013537	0	11	19				
UTS2	10911	broad.mit.edu	37	1	7912986	7912986	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:7912986G>A	ENST00000361696.5	-	1	109	c.78C>T	c.(76-78)tcC>tcT	p.S26S	UTS2_ENST00000054668.5_Intron|UTS2_ENST00000377516.2_Silent_p.S26S	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	26					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.S26S(2)|p.?(1)		kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		ATATTTCCCTGGAGTCAAGGA	0.383																																							uc001aor.2		NA																	3	Substitution - coding silent(2)|Unknown(1)		lung(3)		0						c.(76-78)TCC>TCT		urotensin 2 isoform b preproprotein							81.0	89.0	87.0					1																	7912986		2203	4300	6503	SO:0001819	synonymous_variant	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7912986G>A	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.78C>T	1.37:g.7912986G>A						UTS2_uc001aoq.2_Silent_p.S26S|UTS2_uc001aos.2_Intron	p.S26S	NM_006786	NP_006777	O95399	UTS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)	1	119	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	26					Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	ENST00000361696.5	37	c.78C>T	CCDS91.1																																																																																				0.383	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		13	55	0	0	0	0.00245	0	13	55				
PIK3CD	5293	broad.mit.edu	37	1	9780180	9780180	+	Silent	SNP	C	C	T	rs149764166		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:9780180C>T	ENST00000377346.4	+	11	1545	c.1350C>T	c.(1348-1350)ggC>ggT	p.G450G	PIK3CD_ENST00000543390.1_Silent_p.G117G|PIK3CD_ENST00000361110.2_Silent_p.G415G|PIK3CD_ENST00000536656.1_Silent_p.G415G	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	450	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.G450G(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ATGAGAAGGGCGAGCTGCTGA	0.652																																							uc001aqb.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1348-1350)GGC>GGT		catalytic phosphatidylinositol 3-kinase delta		C		2,4404	4.2+/-10.8	0,2,2201	63.0	62.0	63.0		1350	-5.2	0.7	1	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	PIK3CD	NM_005026.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		450/1045	9780180	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780180C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1350C>T	1.37:g.9780180C>T						PIK3CD_uc010oaf.1_Silent_p.G450G|PIK3CD_uc001aqe.3_Silent_p.G415G	p.G450G	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	11	1558	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	450					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1350C>T	CCDS104.1																																																																																				0.652	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		20	39	0	0	0	0.012319	0	20	39				
CLCN6	1185	broad.mit.edu	37	1	11867212	11867212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:11867212G>A	ENST00000346436.6	+	2	164	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.E38K|CLCN6_ENST00000376497.3_Missense_Mutation_p.E38K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E38K|MTHFR_ENST00000376585.1_5'Flank|MTHFR_ENST00000376590.3_5'Flank|CLCN6_ENST00000376496.3_Missense_Mutation_p.E38K	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	38					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.E38K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGAGGAGGAGGATGA	0.473																																							uc001ate.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GAG>AAG		chloride channel 6 isoform ClC-6a							100.0	92.0	95.0					1																	11867212		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11867212G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.112G>A	1.37:g.11867212G>A	ENSP00000234488:p.Glu38Lys					MTHFR_uc001atc.1_5'Flank|MTHFR_uc001atd.1_5'Flank|MTHFR_uc009vnd.1_5'Flank|CLCN6_uc009vne.1_Missense_Mutation_p.E38K|CLCN6_uc009vnf.1_Missense_Mutation_p.E38K|CLCN6_uc009vng.1_Missense_Mutation_p.E38K|CLCN6_uc009vnh.1_Missense_Mutation_p.E38K|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.E38K	p.E38K	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	225	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	38			Cytoplasmic (By similarity).		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.112G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200516	0.94997	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;T;D;D	0.93426	-3.11;-2.99;-1.26;-3.22;-3.04	4.88	4.88	0.63580	.	0.095822	0.64402	D	0.000001	D	0.93497	0.7925	L	0.44542	1.39	0.58432	D	0.999999	P;P;D;D;B;P	0.63880	0.72;0.827;0.986;0.993;0.053;0.598	B;B;P;P;B;B	0.58520	0.263;0.442;0.737;0.84;0.022;0.135	D	0.91429	0.5164	10	0.21014	T	0.42	-24.4535	15.5379	0.76018	0.0:0.0:1.0:0.0	.	38;38;38;38;38;38	F8W9R3;P51797-3;P51797-4;P51797-2;P51797-5;P51797	.;.;.;.;.;CLCN6_HUMAN	K	38	ENSP00000308367:E38K;ENSP00000234488:E38K;ENSP00000365680:E38K;ENSP00000365670:E38K;ENSP00000365679:E38K	ENSP00000308367:E38K	E	+	1	0	CLCN6	11789799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.858000	0.86971	2.412000	0.81896	0.563000	0.77884	GAG		0.473	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		6	22	0	0	0	0.001168	0	6	22				
VPS13D	55187	broad.mit.edu	37	1	12331089	12331089	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:12331089G>A	ENST00000358136.3	+	17	2141	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E671K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E671*(1)|p.E671K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGAGTGGCTGAAGCTGCCCG	0.458																																							uc001atv.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|lung(1)	ovary(4)|pancreas(1)	5						c.(2011-2013)GAA>AAA		vacuolar protein sorting 13D isoform 1							93.0	90.0	91.0					1																	12331089		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12331089G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2011G>A	1.37:g.12331089G>A	ENSP00000350854:p.Glu671Lys					VPS13D_uc001atw.2_Missense_Mutation_p.E671K	p.E671K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	17	2152	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	671						Missense_Mutation	SNP	ENST00000358136.3	37	c.2011G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973593	0.74246	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44083	0.93;0.93	5.76	3.9	0.45041	.	0.052511	0.64402	D	0.000001	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.22152	0.038;0.017	T	0.12889	-1.0530	10	0.06757	T	0.87	.	12.2146	0.54400	0.1368:0.0:0.8632:0.0	.	671;671	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	671	ENSP00000348666:E671K;ENSP00000350854:E671K	ENSP00000348666:E671K	E	+	1	0	VPS13D	12253676	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	7.602000	0.82796	0.786000	0.33708	0.655000	0.94253	GAA		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	50	0	0	0	0.000602	0	5	50				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318						uc001auk.2		NA																	3	Substitution - coding silent(3)		kidney(2)|endometrium(1)		0						c.(820-822)CTC>CTA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1018	-			274			LRR 3.			Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	110	1	0	0.00307968	0.00308	0.00318376	7	110				
RAP1GAP	5909	broad.mit.edu	37	1	21944462	21944462	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:21944462C>G	ENST00000374765.4	-	6	270	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E88Q|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E24Q|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E55Q|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.E24Q	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	24					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.E55Q(1)|p.E24Q(1)|p.E166Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TAGTCCTCCTCTGTCTGCAAA	0.597																																							uc001bex.2		NA																	3	Substitution - Missense(3)		lung(3)	breast(2)|ovary(1)	3						c.(70-72)GAG>CAG		RAP1 GTPase activating protein isoform c							170.0	148.0	155.0					1																	21944462		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21944462C>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.70G>C	1.37:g.21944462C>G	ENSP00000363897:p.Glu24Gln					RAP1GAP_uc001bev.2_Missense_Mutation_p.E24Q|RAP1GAP_uc001bew.2_Missense_Mutation_p.E88Q|RAP1GAP_uc001bey.2_Missense_Mutation_p.E24Q|RAP1GAP_uc001bez.1_Missense_Mutation_p.E55Q	p.E24Q	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	6	328	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	24					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.70G>C	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344576	0.61073	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757;ENST00000317967;ENST00000447293	D;D;D;D;T	0.89050	-2.46;-2.45;-2.46;-2.45;1.47	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	L	0.47190	1.495	0.51233	D	0.999917	B;B;B;B	0.23854	0.092;0.004;0.004;0.004	B;B;B;B	0.21151	0.033;0.006;0.008;0.006	T	0.83188	-0.0085	10	0.52906	T	0.07	-44.3334	13.513	0.61524	0.0:1.0:0.0:0.0	.	24;24;55;24	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	Q	88;55;24;24;55;24;88;166;24;24	ENSP00000290101:E88Q;ENSP00000363893:E55Q;ENSP00000441661:E24Q;ENSP00000363897:E24Q;ENSP00000352739:E88Q	ENSP00000290101:E88Q	E	-	1	0	RAP1GAP	21817049	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.657000	0.74402	2.320000	0.78422	0.491000	0.48974	GAG		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		12	43	0	0	0	0.013537	0	12	43				
ZNF436	80818	broad.mit.edu	37	1	23688970	23688970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:23688970C>A	ENST00000314011.4	-	4	1041	c.905G>T	c.(904-906)gGg>gTg	p.G302V	ZNF436_ENST00000374608.3_Missense_Mutation_p.G302V	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G302V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGGCCTCTCCCCTGTGTGGAC	0.522																																							uc001bgt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(904-906)GGG>GTG		zinc finger protein 436							114.0	107.0	110.0					1																	23688970		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688970C>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.905G>T	1.37:g.23688970C>A	ENSP00000313582:p.Gly302Val					ZNF436_uc001bgu.2_Missense_Mutation_p.G302V	p.G302V	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1286	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	302					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.905G>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840682	0.71488	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.23552	1.9;1.9	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.50548	0.1622	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47548	-0.9109	10	0.87932	D	0	-29.0692	17.535	0.87827	0.0:1.0:0.0:0.0	.	302	Q9C0F3	ZN436_HUMAN	V	302	ENSP00000313582:G302V;ENSP00000363736:G302V	ENSP00000313582:G302V	G	-	2	0	ZNF436	23561557	1.000000	0.71417	0.787000	0.31911	0.920000	0.55202	6.037000	0.70956	2.739000	0.93911	0.655000	0.94253	GGG		0.522	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		50	43	1	0	3.4597e-24	0.01441	5.11092e-24	50	43				
MAN1C1	57134	broad.mit.edu	37	1	26110248	26110248	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:26110248G>A	ENST00000374332.4	+	12	2191	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	MAN1C1_ENST00000263979.3_Missense_Mutation_p.D441N|MAN1C1_ENST00000374329.1_Missense_Mutation_p.D392N	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	621					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.D621N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GAACCACTCAGACAGCTCCGG	0.597																																							uc001bkm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1861-1863)GAC>AAC		mannosidase, alpha, class 1C, member 1							48.0	48.0	48.0					1																	26110248		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26110248G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1861G>A	1.37:g.26110248G>A	ENSP00000363452:p.Asp621Asn					MAN1C1_uc009vry.1_Missense_Mutation_p.D441N|MAN1C1_uc001bkn.2_Missense_Mutation_p.D92N	p.D621N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	12	2191	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	621			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1861G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662912	0.14710	.	.	ENSG00000117643	ENST00000374332;ENST00000263979;ENST00000374329	D;D;D	0.82619	-1.62;-1.63;-1.63	5.25	3.26	0.37387	.	0.189813	0.43416	D	0.000575	T	0.53238	0.1784	N	0.02854	-0.475	0.21445	N	0.999688	B	0.14012	0.009	B	0.12156	0.007	T	0.50268	-0.8848	10	0.02654	T	1	.	5.0909	0.14708	0.2435:0.1973:0.5592:0.0	.	621	Q9NR34	MA1C1_HUMAN	N	621;441;392	ENSP00000363452:D621N;ENSP00000263979:D441N;ENSP00000363449:D392N	ENSP00000263979:D441N	D	+	1	0	MAN1C1	25982835	0.439000	0.25610	0.958000	0.39756	0.966000	0.64601	0.779000	0.26746	2.449000	0.82847	0.561000	0.74099	GAC		0.597	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		11	38	0	0	0	0.010729	0	11	38				
WDTC1	23038	broad.mit.edu	37	1	27609887	27609887	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:27609887A>C	ENST00000319394.3	+	5	773	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	WDTC1_ENST00000361771.3_Missense_Mutation_p.K80Q	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	80					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.K80Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCTGCACCACAAGAAGCTGCT	0.537																																							uc009vst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(238-240)AAG>CAG		WD and tetratricopeptide repeats 1							117.0	100.0	106.0					1																	27609887		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27609887A>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.238A>C	1.37:g.27609887A>C	ENSP00000317971:p.Lys80Gln					WDTC1_uc001bno.2_Missense_Mutation_p.K80Q|WDTC1_uc001bnp.1_RNA	p.K80Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	5	773	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	80			WD 1.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.238A>C		.	.	.	.	.	.	.	.	.	.	A	26.9	4.785108	0.90282	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.81821	-1.54;-1.54	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.189087	0.56097	D	0.000029	D	0.84584	0.5504	M	0.66939	2.045	0.80722	D	1	P;P	0.48998	0.918;0.835	P;P	0.54210	0.745;0.474	T	0.82904	-0.0226	10	0.27082	T	0.32	.	14.5344	0.67950	1.0:0.0:0.0:0.0	.	80;80	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	Q	80	ENSP00000317971:K80Q;ENSP00000355317:K80Q	ENSP00000317971:K80Q	K	+	1	0	WDTC1	27482474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.031000	0.59945	0.533000	0.62120	AAG		0.537	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		25	31	0	0	0	0.00333	0	25	31				
CSMD2	114784	broad.mit.edu	37	1	34180307	34180307	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:34180307C>T	ENST00000373381.4	-	21	3462	c.3286G>A	c.(3286-3288)Ggc>Agc	p.G1096S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1056	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1056S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGCCCACGCCAAACTGCAAG	0.657																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3166-3168)GGC>AGC		CUB and Sushi multiple domains 2							68.0	70.0	69.0					1																	34180307		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180307C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3286G>A	1.37:g.34180307C>T	ENSP00000362479:p.Gly1096Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.G1096S	p.G1056S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			21	3195	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1056			Sushi 6.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3166G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.345960	0.95807	.	.	ENSG00000121904	ENST00000373381	T	0.61980	0.06	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	N	0.05510	-0.035	0.80722	D	1	D;D	0.65815	0.995;0.963	D;P	0.71414	0.973;0.905	T	0.59209	-0.7497	10	0.14656	T	0.56	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1056;1096	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	1096	ENSP00000362479:G1096S	ENSP00000241312:G1056S	G	-	1	0	CSMD2	33952894	1.000000	0.71417	0.994000	0.49952	0.644000	0.38419	6.077000	0.71275	2.753000	0.94483	0.655000	0.94253	GGC		0.657	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		23	70	0	0	0	0.012319	0	23	70				
GRIK3	2899	broad.mit.edu	37	1	37356600	37356600	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:37356600C>T	ENST00000373091.3	-	2	229	c.213G>A	c.(211-213)agG>agA	p.R71R	GRIK3_ENST00000373093.4_Silent_p.R71R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R71R(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCAGCAGAGTCCTGTTCCTGT	0.532																																							uc001caz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(211-213)AGG>AGA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						308.0	248.0	268.0					1																	37356600		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356600C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.213G>A	1.37:g.37356600C>T						GRIK3_uc001cba.1_Silent_p.R71R	p.R71R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	348	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	71			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.213G>A	CCDS416.1																																																																																				0.532	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		30	107	0	0	0	0.008361	0	30	107				
MACF1	23499	broad.mit.edu	37	1	39853098	39853098	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:39853098C>G	ENST00000372915.3	+	57	14686	c.14599C>G	c.(14599-14601)Ctt>Gtt	p.L4867V	MACF1_ENST00000539005.1_Missense_Mutation_p.L2779V|MACF1_ENST00000361689.2_Missense_Mutation_p.L2800V|MACF1_ENST00000317713.7_Missense_Mutation_p.L2800V|MACF1_ENST00000289893.4_Missense_Mutation_p.L3302V|MACF1_ENST00000564288.1_Missense_Mutation_p.L4862V|MACF1_ENST00000545844.1_Missense_Mutation_p.L2800V|MACF1_ENST00000567887.1_Missense_Mutation_p.L4899V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4867					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L3302V(1)|p.L2800V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCTCTACTTCTTTCTGTACC	0.428																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9904-9906)CTT>GTT		microfilament and actin filament cross-linker							118.0	133.0	128.0					1																	39853098		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853098C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14599C>G	1.37:g.39853098C>G	ENSP00000362006:p.Leu4867Val					MACF1_uc010ois.1_Missense_Mutation_p.L2800V|MACF1_uc001cda.1_Missense_Mutation_p.L2687V|MACF1_uc001cdc.1_Missense_Mutation_p.L1866V	p.L3302V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	10035	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4867			Spectrin 4.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9904C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.990|8.990	0.977371|0.977371	0.18812|0.18812	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.63462|0.63462	0.2513|0.2513	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P;P;B|.	0.37370|.	0.592;0.539;0.336|.	B;B;B|.	0.40009|.	0.241;0.316;0.108|.	T|T	0.59690|0.59690	-0.7407|-0.7407	10|5	0.28530|.	T|.	0.3|.	.|.	11.988|11.988	0.53159|0.53159	0.1354:0.7341:0.1305:0.0|0.1354:0.7341:0.1305:0.0	.|.	4867;2800;2744|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	2800;4867;2800;2800;2779;3302|1912	ENSP00000439537:L2800V;ENSP00000362006:L4867V;ENSP00000354573:L2800V;ENSP00000313438:L2800V;ENSP00000444364:L2779V;ENSP00000289893:L3302V|.	ENSP00000289893:L3302V|.	L|S	+|+	1|2	0|0	MACF1|MACF1	39625685|39625685	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.617000|2.617000	0.46385|0.46385	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		37	129	0	0	0	0.009718	0	37	129				
CDC20	991	broad.mit.edu	37	1	43825017	43825017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:43825017G>T	ENST00000372462.1	+	1	334	c.131G>T	c.(130-132)cGg>cTg	p.R44L	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.R44L			Q12834	CDC20_HUMAN	cell division cycle 20	44					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.R44L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCACCCATGCGGGCCGCCAAC	0.657																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	Esophageal Squamous(137;1154 1759 10362 10401 46925)	uc001cix.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CGG>CTG		cell division cycle 20							21.0	28.0	26.0					1																	43825017		2195	4296	6491	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825017G>T	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.131G>T	1.37:g.43825017G>T	ENSP00000361540:p.Arg44Leu					CDC20_uc001ciy.2_Missense_Mutation_p.R44L	p.R44L	NM_001255	NP_001246	Q12834	CDC20_HUMAN			2	232	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	44					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.131G>T	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746516	0.49257	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.55930	0.49;0.49	5.93	5.02	0.67125	.	0.054662	0.64402	D	0.000002	T	0.33847	0.0877	N	0.19112	0.55	0.47065	D	0.999309	B	0.26445	0.149	B	0.22753	0.041	T	0.17258	-1.0375	10	0.40728	T	0.16	-27.0788	7.0424	0.25027	0.2835:0.0:0.7165:0.0	.	44	Q12834	CDC20_HUMAN	L	44	ENSP00000308450:R44L;ENSP00000361540:R44L	ENSP00000308450:R44L	R	+	2	0	CDC20	43597604	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.968000	0.70413	1.503000	0.48686	0.655000	0.94253	CGG		0.657	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		16	24	1	0	1.67942e-08	0.006122	1.97132e-08	16	24				
C8A	731	broad.mit.edu	37	1	57351623	57351623	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:57351623C>T	ENST00000361249.3	+	7	975	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	293	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.F293F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAAGAATCTTCACAAAGGTGC	0.368																																							uc001cyo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(877-879)TTC>TTT		complement component 8, alpha polypeptide							68.0	65.0	66.0					1																	57351623		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351623C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.879C>T	1.37:g.57351623C>T							p.F293F	NM_000562	NP_000553	P07357	CO8A_HUMAN			7	1011	+			293			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.879C>T	CCDS606.1																																																																																				0.368	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		5	51	0	0	0	0.001168	0	5	51				
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000263441.7_Silent_p.T388T|DNAJC6_ENST00000371069.4_Silent_p.T458T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413																																							uc001dcd.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1201-1203)ACG>ACA		DnaJ (Hsp40) homolog, subfamily C, member 6		G		1,4405	2.1+/-5.4	0,1,2202	134.0	116.0	122.0		1203	-2.3	0.8	1	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		401/914	65855119	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855119G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1203G>A	1.37:g.65855119G>A						DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc010opc.1_Silent_p.T388T|DNAJC6_uc001dce.1_Silent_p.T458T	p.T401T	NM_014787	NP_055602	O75061	AUXI_HUMAN			10	1367	+			401					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1203G>A	CCDS30739.1																																																																																				0.413	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			9	33	0	0	0	0.004482	0	9	33				
LEPR	3953	broad.mit.edu	37	1	66067113	66067113	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:66067113G>T	ENST00000349533.6	+	9	1218	c.1033G>T	c.(1033-1035)Ggg>Tgg	p.G345W	LEPR_ENST00000371060.3_Missense_Mutation_p.G345W|LEPR_ENST00000371059.3_Missense_Mutation_p.G345W|LEPR_ENST00000344610.8_Missense_Mutation_p.G345W|LEPR_ENST00000371058.1_Missense_Mutation_p.G345W|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G345W(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACAAGTGTTGGGTCTAATGT	0.343																																							uc001dci.2		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1033-1035)GGG>TGG		leptin receptor isoform 1							114.0	111.0	112.0					1																	66067113		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067113G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1033G>T	1.37:g.66067113G>T	ENSP00000330393:p.Gly345Trp					LEPR_uc001dcg.2_Missense_Mutation_p.G345W|LEPR_uc001dch.2_Missense_Mutation_p.G345W|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G345W|LEPR_uc001dck.2_Missense_Mutation_p.G345W	p.G345W	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1235	+			345			Extracellular (Potential).|Ig-like.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1033G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257907	0.59321	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.18	5.18	0.71444	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.143214	0.64402	D	0.000006	D	0.91808	0.7408	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.92265	0.5820	10	0.87932	D	0	-16.4991	18.8853	0.92375	0.0:0.0:1.0:0.0	.	345;345;345	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	W	345	ENSP00000340884:G345W;ENSP00000330393:G345W;ENSP00000360099:G345W;ENSP00000360098:G345W;ENSP00000360097:G345W	ENSP00000340884:G345W	G	+	1	0	LEPR	65839701	1.000000	0.71417	0.121000	0.21740	0.665000	0.39181	6.916000	0.75776	2.688000	0.91661	0.655000	0.94253	GGG		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		28	43	1	0	2.4375e-19	0.007291	3.38e-19	28	43				
IL12RB2	3595	broad.mit.edu	37	1	67787401	67787401	+	Missense_Mutation	SNP	C	C	G	rs140166116		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:67787401C>G	ENST00000262345.1	+	3	833	c.193C>G	c.(193-195)Cgt>Ggt	p.R65G	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R65G|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R65G|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R65G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	65					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.R65G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTATTCCAGACGTAACAAGTT	0.428																																							uc001ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(193-195)CGT>GGT		interleukin 12 receptor, beta 2 precursor							149.0	140.0	143.0					1																	67787401		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787401C>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.193C>G	1.37:g.67787401C>G	ENSP00000262345:p.Arg65Gly					IL12RB2_uc010oqi.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqj.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqm.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqn.1_RNA	p.R65G	NM_001559	NP_001550	Q99665	I12R2_HUMAN			3	833	+			65			Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.193C>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237347	0.10023	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.85	-0.429	0.12303	Immunoglobulin C2-set-like, ligand-binding (1);	1.119560	0.06355	N	0.710621	T	0.32763	0.0840	N	0.08118	0	0.09310	N	1	B;B;B;B	0.16166	0.016;0.009;0.001;0.006	B;B;B;B	0.20577	0.006;0.024;0.001;0.03	T	0.14924	-1.0455	10	0.21540	T	0.41	1.7456	6.3506	0.21373	0.0:0.0961:0.5035:0.4004	.	65;65;65;65	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	G	65	ENSP00000262345:R65G;ENSP00000360039:R65G;ENSP00000445276:R65G;ENSP00000442443:R65G	ENSP00000262345:R65G	R	+	1	0	IL12RB2	67559989	0.000000	0.05858	0.022000	0.16811	0.007000	0.05969	-0.706000	0.05047	-0.246000	0.09611	-0.312000	0.09012	CGT		0.428	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		31	97	0	0	0	0.009535	0	31	97				
LRRC7	57554	broad.mit.edu	37	1	70503915	70503915	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:70503915C>A	ENST00000035383.5	+	19	2324	c.2294C>A	c.(2293-2295)aCt>aAt	p.T765N	LRRC7_ENST00000310961.5_Missense_Mutation_p.T770N|LRRC7_ENST00000415775.2_Missense_Mutation_p.T49N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	765						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T765N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GATACTTTCACTGACAACTGG	0.507																																							uc001dep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2293-2295)ACT>AAT		leucine rich repeat containing 7							152.0	142.0	146.0					1																	70503915		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503915C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2294C>A	1.37:g.70503915C>A	ENSP00000035383:p.Thr765Asn					LRRC7_uc009wbg.2_Missense_Mutation_p.T49N|LRRC7_uc001deq.2_Missense_Mutation_p.T6N	p.T765N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2324	+			765					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2294C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256266	0.22965	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37752	1.18;1.25;2.35	5.58	5.58	0.84498	.	0.639568	0.15463	N	0.261020	T	0.18130	0.0435	N	0.22421	0.69	0.28490	N	0.914533	B;B;B	0.27351	0.176;0.036;0.046	B;B;B	0.30943	0.122;0.043;0.039	T	0.23619	-1.0183	10	0.62326	D	0.03	.	18.5578	0.91091	0.0:1.0:0.0:0.0	.	49;765;765	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	N	770;765;49;588	ENSP00000309245:T770N;ENSP00000035383:T765N;ENSP00000394867:T49N	ENSP00000035383:T765N	T	+	2	0	LRRC7	70276503	0.861000	0.29849	0.993000	0.49108	0.274000	0.26718	5.338000	0.65947	2.638000	0.89438	0.467000	0.42956	ACT		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	101	1	0	1.22384e-17	0.013726	1.68358e-17	31	101				
SNX7	51375	broad.mit.edu	37	1	99156718	99156718	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:99156718G>C	ENST00000306121.3	+	3	460	c.451G>C	c.(451-453)Gca>Cca	p.A151P	SNX7_ENST00000529992.1_Missense_Mutation_p.A151P|SNX7_ENST00000370189.5_Missense_Mutation_p.A87P	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	87	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A87P(1)|p.A151P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ACTGGAAGAAGCACACCCCAC	0.363																																							uc010ouc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(451-453)GCA>CCA		sorting nexin 7 isoform a							83.0	79.0	80.0					1																	99156718		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99156718G>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.451G>C	1.37:g.99156718G>C	ENSP00000304429:p.Ala151Pro					SNX7_uc001dsa.2_Missense_Mutation_p.A87P|SNX7_uc010oud.1_Missense_Mutation_p.A151P	p.A151P	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	3	503	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	87			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.451G>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878976	0.72294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.98	5.05	0.67936	.	0.200083	0.53938	D	0.000052	T	0.52853	0.1760	M	0.62088	1.915	0.54753	D	0.999982	D;D;D	0.76494	0.999;0.997;0.981	D;P;P	0.72338	0.977;0.86;0.528	T	0.57294	-0.7836	10	0.51188	T	0.08	-14.4262	16.4594	0.84031	0.0:0.0:0.8678:0.1322	.	151;151;87	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	P	87;151;151;87	ENSP00000359208:A87P;ENSP00000434731:A151P;ENSP00000304429:A151P;ENSP00000388266:A87P	ENSP00000304429:A151P	A	+	1	0	SNX7	98929306	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	4.184000	0.58323	1.493000	0.48517	0.650000	0.86243	GCA		0.363	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			11	24	0	0	0	0.008291	0	11	24				
CELSR2	1952	broad.mit.edu	37	1	109815340	109815340	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:109815340C>A	ENST00000271332.3	+	30	8194	c.8133C>A	c.(8131-8133)gaC>gaA	p.D2711E	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2711					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D2711E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGGTCAAGACCAGCAGCATG	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)	NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(8131-8133)GAC>GAA		cadherin EGF LAG seven-pass G-type receptor 2							40.0	44.0	43.0					1																	109815340		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815340C>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8133C>A	1.37:g.109815340C>A	ENSP00000271332:p.Asp2711Glu						p.D2711E	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	30	8194	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2711			Cytoplasmic (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8133C>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	2.013	-0.426577	0.04701	.	.	ENSG00000143126	ENST00000271332	T	0.66460	-0.21	5.42	1.3	0.21679	.	.	.	.	.	T	0.20373	0.0490	L	0.29908	0.895	0.23138	N	0.998239	B	0.06786	0.001	B	0.01281	0.0	T	0.32025	-0.9922	9	0.02654	T	1	.	5.6261	0.17482	0.0:0.5658:0.1323:0.3019	.	2711	Q9HCU4	CELR2_HUMAN	E	2711	ENSP00000271332:D2711E	ENSP00000271332:D2711E	D	+	3	2	CELSR2	109616863	0.840000	0.29493	0.997000	0.53966	0.873000	0.50193	0.177000	0.16801	0.246000	0.21394	0.561000	0.74099	GAC		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	37	1	0	6.40141e-05	0.010729	6.90609e-05	12	37				
KCNC4	3749	broad.mit.edu	37	1	110766518	110766518	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:110766518G>T	ENST00000369787.3	+	2	1638	c.1611G>T	c.(1609-1611)cgG>cgT	p.R537R	KCNC4_ENST00000438661.2_Silent_p.R537R|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.R537R	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	537					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R537R(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAGGAAACGGGCAGGTGAGA	0.562																																							uc001dzh.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1609-1611)CGG>CGT		Shaw-related voltage-gated potassium channel							53.0	58.0	57.0					1																	110766518		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110766518G>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1611G>T	1.37:g.110766518G>T						KCNC4_uc001dzf.2_Silent_p.R537R|KCNC4_uc009wfr.2_Silent_p.R537R|KCNC4_uc001dzg.2_Silent_p.R537R|KCNC4_uc001dzi.2_RNA	p.R537R	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1668	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	537			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1611G>T	CCDS821.1																																																																																				0.562	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		15	26	1	0	1.37285e-15	0.004007	1.84944e-15	15	26				
HIPK1	204851	broad.mit.edu	37	1	114499818	114499818	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:114499818C>G	ENST00000369558.1	+	7	1897	c.1665C>G	c.(1663-1665)atC>atG	p.I555M	HIPK1_ENST00000340480.4_Missense_Mutation_p.I181M|HIPK1_ENST00000426820.2_Missense_Mutation_p.I555M|HIPK1_ENST00000406344.1_Missense_Mutation_p.I161M|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369559.4_Missense_Mutation_p.I555M|HIPK1_ENST00000369555.2_Missense_Mutation_p.I555M|HIPK1_ENST00000369554.2_Missense_Mutation_p.I555M|HIPK1_ENST00000369553.1_Missense_Mutation_p.I161M			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	555					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I555M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAGTCAGATCAAGAGTCCCT	0.393																																							uc001eem.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1663-1665)ATC>ATG		homeodomain-interacting protein kinase 1 isoform							153.0	129.0	137.0					1																	114499818		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499818C>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1665C>G	1.37:g.114499818C>G	ENSP00000358571:p.Ile555Met					HIPK1_uc001eel.2_Missense_Mutation_p.I555M|HIPK1_uc001een.2_Missense_Mutation_p.I555M|HIPK1_uc001eeo.2_Missense_Mutation_p.I181M|HIPK1_uc001eep.2_Missense_Mutation_p.I161M	p.I555M	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1826	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	555					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1665C>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424376	0.62733	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.81;0.83;0.81;0.81;0.83;3.82;1.83;1.83	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.45276	0.1334	L	0.36672	1.1	0.45979	D	0.99879	D;P;D	0.60575	0.975;0.952;0.988	P;B;D	0.72338	0.796;0.395;0.977	T	0.28744	-1.0034	10	0.34782	T	0.22	.	10.2244	0.43216	0.1374:0.7896:0.0:0.073	.	161;555;555	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	M	626;555;555;555;555;555;181;161;161	ENSP00000407442:I626M;ENSP00000358572:I555M;ENSP00000409673:I555M;ENSP00000358567:I555M;ENSP00000358568:I555M;ENSP00000358571:I555M;ENSP00000340956:I181M;ENSP00000358566:I161M;ENSP00000384960:I161M	ENSP00000340956:I181M	I	+	3	3	HIPK1	114301341	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.319000	0.19522	2.861000	0.98227	0.650000	0.86243	ATC		0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		11	76	0	0	0	0.013537	0	11	76				
FLG	2312	broad.mit.edu	37	1	152282032	152282032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:152282032G>T	ENST00000368799.1	-	3	5365	c.5330C>A	c.(5329-5331)tCc>tAc	p.S1777Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1777Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGGGCGGACTCAGACTG	0.607									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5329-5331)TCC>TAC		filaggrin							205.0	212.0	209.0					1																	152282032		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282032G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5330C>A	1.37:g.152282032G>T	ENSP00000357789:p.Ser1777Tyr						p.S1777Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5366	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1777			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5330C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319790	0.23994	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	4.64	0.35	0.16037	.	.	.	.	.	T	0.03305	0.0096	M	0.83483	2.645	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.28681	-1.0036	9	0.87932	D	0	0.0123	5.0931	0.14720	0.1923:0.3131:0.4945:0.0	.	1777	P20930	FILA_HUMAN	Y	1777;12	ENSP00000357789:S1777Y	ENSP00000271820:S12Y	S	-	2	0	FLG	150548656	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.682000	0.25335	-0.114000	0.11936	-0.259000	0.10710	TCC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		130	263	1	0	1.60004e-37	0.01441	2.46891e-37	130	263				
PAQR6	79957	broad.mit.edu	37	1	156214604	156214604	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:156214604G>C	ENST00000292291.5	-	7	866	c.708C>G	c.(706-708)ctC>ctG	p.L236L	PAQR6_ENST00000356983.2_Silent_p.L130L|PAQR6_ENST00000335852.1_Silent_p.L130L|PAQR6_ENST00000368270.1_Silent_p.L212L|PAQR6_ENST00000540423.1_Silent_p.L233L|PAQR6_ENST00000492619.1_5'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	236						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L130L(1)|p.L236L(1)		lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGGAGGCGAAGAGGAAGCCAG	0.672																																					GBM(16;219 398 12385 32425 38531)	GBM(16;219 398 12385 32425 38531)	uc001fnu.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(706-708)CTC>CTG		progestin and adipoQ receptor family member VI							43.0	45.0	44.0					1																	156214604		2203	4300	6503	SO:0001819	synonymous_variant	79957					integral to membrane	receptor activity	g.chr1:156214604G>C	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.708C>G	1.37:g.156214604G>C						PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Missense_Mutation_p.S14C|PAQR6_uc001fnv.1_Silent_p.L212L|PAQR6_uc010phg.1_Silent_p.L233L|PAQR6_uc001fnx.1_Silent_p.L130L|PAQR6_uc001fnw.1_Silent_p.L130L|PAQR6_uc001fnz.1_Silent_p.L130L|PAQR6_uc010phh.1_Silent_p.L236L|PAQR6_uc001foa.1_Silent_p.L130L|PAQR6_uc001fob.1_RNA	p.L236L	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN			7	778	-	Hepatocellular(266;0.158)		236			Helical; (Potential).		B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Silent	SNP	ENST00000292291.5	37	c.708C>G	CCDS1136.1																																																																																				0.672	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		10	63	0	0	0	0.006214	0	10	63				
BCAN	63827	broad.mit.edu	37	1	156622224	156622224	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:156622224T>A	ENST00000329117.5	+	8	1818	c.1482T>A	c.(1480-1482)tcT>tcA	p.S494S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S494S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	494					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.S494S(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGGCCTCTCTCCCCACTG	0.622																																							uc001fpp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1480-1482)TCT>TCA		brevican isoform 1							13.0	13.0	13.0					1																	156622224		2200	4296	6496	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622224T>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1482T>A	1.37:g.156622224T>A						BCAN_uc001fpo.2_Silent_p.S494S	p.S494S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	1818	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		494					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.1482T>A	CCDS1149.1																																																																																				0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	11	0	0	0	0.006214	0	9	11				
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:157557276C>G	ENST00000271532.1	-	5	772	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	213	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E213K(1)|p.E213Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498																																							uc001fqw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(637-639)GAA>CAA		Fc receptor-like 4 precursor							160.0	162.0	161.0					1																	157557276		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557276C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.637G>C	1.37:g.157557276C>G	ENSP00000271532:p.Glu213Gln					FCRL4_uc010phy.1_RNA	p.E213Q	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	773	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	213			Ig-like C2-type 3.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.637G>C	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184946	0.38609	.	.	ENSG00000163518	ENST00000271532	T	0.11063	2.81	4.71	0.544	0.17185	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.329531	0.21891	N	0.067596	T	0.04363	0.0120	L	0.39326	1.205	0.21933	N	0.999467	P	0.36874	0.572	P	0.48952	0.596	T	0.41610	-0.9499	10	0.20519	T	0.43	.	5.1839	0.15174	0.0:0.4171:0.3782:0.2047	.	213	Q96PJ5	FCRL4_HUMAN	Q	213	ENSP00000271532:E213Q	ENSP00000271532:E213Q	E	-	1	0	FCRL4	155823900	0.031000	0.19500	0.644000	0.29465	0.936000	0.57629	-0.633000	0.05483	0.006000	0.14734	0.467000	0.42956	GAA		0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		32	176	0	0	0	0.012213	0	32	176				
KIRREL	55243	broad.mit.edu	37	1	158059508	158059508	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158059508G>T	ENST00000359209.6	+	10	1239	c.1172G>T	c.(1171-1173)gGg>gTg	p.G391V	KIRREL_ENST00000416935.2_Splice_Site_p.G291V|KIRREL_ENST00000368172.1_Splice_Site_p.G205V|KIRREL_ENST00000368173.3_Splice_Site_p.G407V|KIRREL_ENST00000392272.2_Splice_Site_p.G288V|KIRREL_ENST00000360089.4_Splice_Site_p.G227V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	391					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.G227V(2)|p.G407V(2)|p.G391V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTGCTTGCAGGGCCCCCCATC	0.582																																							uc001frn.3		NA																	5	Substitution - Missense(5)		lung(3)|large_intestine(2)	ovary(1)	1						c.(1171-1173)GGG>GTG		kin of IRRE like precursor							132.0	122.0	125.0					1																	158059508		2203	4300	6503	SO:0001630	splice_region_variant	55243					integral to membrane		g.chr1:158059508G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1172-1G>T	1.37:g.158059508G>T						KIRREL_uc010pib.1_Missense_Mutation_p.G291V|KIRREL_uc009wsq.2_Missense_Mutation_p.G227V|KIRREL_uc001fro.3_Missense_Mutation_p.G205V	p.G391V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			10	1576	+	all_hematologic(112;0.0378)		391			Extracellular (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1172G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978093	0.74360	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.39834	N	0.001255	T	0.49712	0.1573	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.97110	0.979;1.0;1.0;1.0	T	0.50338	-0.8840	9	.	.	.	.	16.3856	0.83503	0.0:0.0:1.0:0.0	.	291;227;205;391	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	V	227;407;288;391;291;205	ENSP00000353202:G227V;ENSP00000357155:G407V;ENSP00000376098:G288V;ENSP00000352138:G391V;ENSP00000389674:G291V;ENSP00000357154:G205V	.	G	+	2	0	KIRREL	156326132	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	9.552000	0.98115	2.463000	0.83235	0.460000	0.39030	GGG		0.582	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	Missense_Mutation	50	63	1	0	7.77372e-23	0.01441	1.13869e-22	50	63				
OR10R2	343406	broad.mit.edu	37	1	158450321	158450321	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158450321G>C	ENST00000368152.1	+	1	654	c.654G>C	c.(652-654)gtG>gtC	p.V218V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V218V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACGAATTTGTGATATTCATTT	0.413																																							uc010pik.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(652-654)GTG>GTC		olfactory receptor, family 10, subfamily R,							156.0	145.0	149.0					1																	158450321		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450321G>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.654G>C	1.37:g.158450321G>C						uc001fso.1_RNA	p.V218V	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	654	+	all_hematologic(112;0.0378)		218			Helical; Name=5; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.654G>C	CCDS30898.1																																																																																				0.413	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		26	160	0	0	0	0.00632	0	26	160				
SPTA1	6708	broad.mit.edu	37	1	158627313	158627313	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:158627313G>A	ENST00000368147.4	-	19	2939	c.2759C>T	c.(2758-2760)cCt>cTt	p.P920L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	920					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.P920L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTACAATAGGTTCCTTCTC	0.458																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2758-2760)CCT>CTT		spectrin, alpha, erythrocytic 1							146.0	149.0	149.0					1																	158627313		1979	4162	6141	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627313G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2759C>T	1.37:g.158627313G>A	ENSP00000357129:p.Pro920Leu						p.P920L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2958	-	all_hematologic(112;0.0378)		920			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2759C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504617	0.64410	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	4.68	4.68	0.58851	.	0.000000	0.31989	N	0.006747	T	0.42899	0.1223	L	0.57130	1.785	0.80722	D	1	B	0.31989	0.35	P	0.46585	0.521	T	0.34950	-0.9808	10	0.12430	T	0.62	.	16.6727	0.85271	0.0:0.0:1.0:0.0	.	920	P02549	SPTA1_HUMAN	L	920	ENSP00000357130:P920L;ENSP00000357129:P920L	ENSP00000357129:P920L	P	-	2	0	SPTA1	156893937	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	6.648000	0.74359	2.569000	0.86673	0.655000	0.94253	CCT		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		27	159	0	0	0	0.003954	0	27	159				
CADM3	57863	broad.mit.edu	37	1	159170655	159170655	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:159170655C>T	ENST00000368125.4	+	9	1297	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	CTA-134P22.2_ENST00000415675.2_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000368124.4_Silent_p.I414I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	380					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I414I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACGGCCATCATCAATGCAG	0.597																																							uc001ftl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1138-1140)ATC>ATT		cell adhesion molecule 3 isoform 2							94.0	89.0	90.0					1																	159170655		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170655C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1140C>T	1.37:g.159170655C>T						CADM3_uc001ftk.2_Silent_p.I414I|uc001ftm.1_RNA	p.I380I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			9	1282	+	all_hematologic(112;0.0429)		380			Cytoplasmic (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1140C>T	CCDS44251.1																																																																																				0.597	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		13	88	0	0	0	0.00245	0	13	88				
ATP1A2	477	broad.mit.edu	37	1	160106720	160106720	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:160106720C>T	ENST00000361216.3	+	20	2828	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	ATP1A2_ENST00000392233.3_Silent_p.F913F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	913					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.F913F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTGGAGTTCACGTGCCACA	0.577																																							uc001fvc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2737-2739)TTC>TTT		Na+/K+ -ATPase alpha 2 subunit proprotein							229.0	175.0	193.0					1																	160106720		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106720C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2739C>T	1.37:g.160106720C>T						ATP1A2_uc001fvb.2_Silent_p.F913F|ATP1A2_uc001fvd.2_Silent_p.F632F	p.F913F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		20	2871	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		913			Extracellular (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2739C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	c	10.43	1.348025	0.24426	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.56	3.65	0.41850	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47459	-0.9116	4	.	.	.	.	10.6163	0.45451	0.0:0.9059:0.0:0.0941	.	.	.	.	L	607	.	.	S	+	2	0	ATP1A2	158373344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.151000	0.50670	1.271000	0.44313	0.651000	0.88453	TCA		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		38	194	0	0	0	0.007835	0	38	194				
USP21	27005	broad.mit.edu	37	1	161130616	161130616	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:161130616G>T	ENST00000289865.8	+	2	407	c.186G>T	c.(184-186)cgG>cgT	p.R62R	USP21_ENST00000368001.1_Silent_p.R62R|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Silent_p.R62R	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	62					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R62R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGATGAACGGCTCAAGAAAC	0.667																																							uc010pke.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(184-186)CGG>CGT		ubiquitin-specific protease 21							53.0	55.0	54.0					1																	161130616		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130616G>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.186G>T	1.37:g.161130616G>T						USP21_uc010pkc.1_Silent_p.R62R|USP21_uc010pkd.1_Silent_p.R62R|USP21_uc010pkf.1_Silent_p.R62R	p.R62R	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	563	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		62					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.186G>T	CCDS30920.1																																																																																				0.667	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			40	64	1	0	1.57019e-19	0.007835	2.18316e-19	40	64				
C1orf105	92346	broad.mit.edu	37	1	172425554	172425554	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:172425554G>T	ENST00000367727.4	+	4	396		c.e4-1		C1orf105_ENST00000367725.4_Splice_Site|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105									p.?(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTTCCCCTCAGGCCAGGAGGA	0.507																																							uc001gik.2		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e4-1		hypothetical protein LOC92346							118.0	116.0	117.0					1																	172425554		2203	4300	6503	SO:0001630	splice_region_variant	92346							g.chr1:172425554G>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.199-1G>T	1.37:g.172425554G>T							p.A67_splice	NM_139240	NP_640333	O95561	CA105_HUMAN			4	395	+								Q8IY02	Splice_Site	SNP	ENST00000367727.4	37	c.199_splice	CCDS1301.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568675	0.28003	.	.	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5942	0.45327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf105	170692177	0.973000	0.33851	0.083000	0.20561	0.173000	0.22820	3.566000	0.53805	2.184000	0.69523	0.591000	0.81541	.		0.507	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240	Intron	54	78	1	0	1.95512e-22	0.01441	2.83984e-22	54	78				
TNR	7143	broad.mit.edu	37	1	175372452	175372452	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:175372452G>A	ENST00000367674.2	-	4	1508	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TNR_ENST00000263525.2_Missense_Mutation_p.P267L			Q92752	TENR_HUMAN	tenascin R	267	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P267L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACAGTCCCCAGGGCACCTCAG	0.637																																							uc001gkp.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(799-801)CCT>CTT		tenascin R precursor							122.0	82.0	95.0					1																	175372452		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372452G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.800C>T	1.37:g.175372452G>A	ENSP00000356646:p.Pro267Leu					TNR_uc009wwu.1_Missense_Mutation_p.P267L|TNR_uc010pmz.1_Missense_Mutation_p.P267L	p.P267L	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	881	-	Renal(580;0.146)		267			Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.800C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301139	0.60195	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.24723	1.84;1.84	6.17	6.17	0.99709	.	0.059983	0.64402	D	0.000001	T	0.50171	0.1600	L	0.54908	1.71	0.80722	D	1	D;B	0.89917	1.0;0.011	D;B	0.85130	0.997;0.01	T	0.25779	-1.0122	10	0.52906	T	0.07	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	267;267	B4DIX8;Q92752	.;TENR_HUMAN	L	267	ENSP00000356646:P267L;ENSP00000263525:P267L	ENSP00000263525:P267L	P	-	2	0	TNR	173639075	1.000000	0.71417	0.978000	0.43139	0.956000	0.61745	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	CCT		0.637	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		24	41	0	0	0	0.00278	0	24	41				
PAPPA2	60676	broad.mit.edu	37	1	176762727	176762727	+	Silent	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:176762727C>G	ENST00000367662.3	+	20	6216	c.5052C>G	c.(5050-5052)ccC>ccG	p.P1684P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1684	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1684P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTAATCCCCCCCAGTGACC	0.468																																							uc001gkz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5050-5052)CCC>CCG		pappalysin 2 isoform 1							203.0	201.0	202.0					1																	176762727		1965	4151	6116	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762727C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5052C>G	1.37:g.176762727C>G						PAPPA2_uc009www.2_RNA	p.P1684P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			20	6216	+			1684			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.5052C>G	CCDS41438.1																																																																																				0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			22	37	0	0	0	0.004656	0	22	37				
BRINP3	339479	broad.mit.edu	37	1	190068088	190068088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:190068088G>T	ENST00000367462.3	-	8	1592	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.P352Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	454					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.P454Q(1)									GCGGTTGTCTGGTGCGCATGT	0.632																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1360-1362)CCA>CAA		family with sequence similarity 5, member C							67.0	62.0	64.0					1																	190068088		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068088G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1361C>A	1.37:g.190068088G>T	ENSP00000356432:p.Pro454Gln					FAM5C_uc010pot.1_Missense_Mutation_p.P352Q	p.P454Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1593	-	Prostate(682;0.198)		454					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1361C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256097	0.05829	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.41065	1.01;1.01	5.65	4.71	0.59529	Epidermal growth factor-like (1);	0.243789	0.41938	N	0.000794	T	0.27205	0.0667	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.13548	-1.0505	10	0.25751	T	0.34	.	11.3977	0.49851	0.0:0.0:0.6716:0.3284	.	352;454	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	454;352	ENSP00000356432:P454Q;ENSP00000438022:P352Q	ENSP00000356432:P454Q	P	-	2	0	FAM5C	188334711	0.119000	0.22226	0.006000	0.13384	0.632000	0.37999	1.963000	0.40452	1.318000	0.45170	0.591000	0.81541	CCA		0.632	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		27	73	1	0	2.48779e-11	0.005443	3.13233e-11	27	73				
PPFIA4	8497	broad.mit.edu	37	1	203026012	203026012	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:203026012C>G	ENST00000447715.2	+	24	2716	c.2275C>G	c.(2275-2277)Cgc>Ggc	p.R759G	PPFIA4_ENST00000599966.1_Missense_Mutation_p.R275G|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R275G|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R275G|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R488G|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R760G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	759					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.R275G(1)|p.R906G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCATTGGCCGCCTGTTTGG	0.627																																							uc001gyz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(823-825)CGC>GGC		protein tyrosine phosphatase, receptor type, f							53.0	59.0	57.0					1																	203026012		2154	4273	6427	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203026012C>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2275C>G	1.37:g.203026012C>G	ENSP00000402576:p.Arg759Gly					PPFIA4_uc009xaj.2_Missense_Mutation_p.R906G|PPFIA4_uc010pqf.1_Missense_Mutation_p.R488G|PPFIA4_uc001gza.2_Missense_Mutation_p.R275G|PPFIA4_uc001gzb.1_5'UTR	p.R275G	NM_015053	NP_055868	O75335	LIPA4_HUMAN			6	1416	+			275					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.823C>G		.	.	.	.	.	.	.	.	.	.	c	29.5	5.015664	0.93404	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.19	5.19	0.71726	.	0.000000	0.45361	D	0.000364	T	0.56499	0.1989	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.71674	0.982;0.998;0.99;0.97	P;D;D;P	0.67231	0.81;0.95;0.942;0.649	T	0.63207	-0.6689	10	0.87932	D	0	-20.9162	18.9165	0.92507	0.0:1.0:0.0:0.0	.	488;759;275;275	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	G	760;759;275;488;275	ENSP00000356209:R760G;ENSP00000402576:R759G;ENSP00000295706:R275G;ENSP00000400379:R488G;ENSP00000272198:R275G	ENSP00000272198:R275G	R	+	1	0	PPFIA4	201292635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.648000	0.83479	2.697000	0.92050	0.651000	0.88453	CGC		0.627	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		30	25	0	0	0	0.012213	0	30	25				
PROX1	5629	broad.mit.edu	37	1	214171068	214171068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:214171068G>T	ENST00000366958.4	+	2	1798	c.1190G>T	c.(1189-1191)gGg>gTg	p.G397V	PROX1_ENST00000498508.2_Missense_Mutation_p.G397V|PROX1_ENST00000261454.4_Missense_Mutation_p.G397V|PROX1_ENST00000435016.1_Missense_Mutation_p.G397V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	397					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.G397V(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCAGTCAATGGGGAAAACCAC	0.577																																							uc001hkh.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1189-1191)GGG>GTG		prospero homeobox 1							96.0	99.0	98.0					1																	214171068		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171068G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1190G>T	1.37:g.214171068G>T	ENSP00000355925:p.Gly397Val					PROX1_uc001hkg.1_Missense_Mutation_p.G397V	p.G397V	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1462	+			397					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1190G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291718	0.23564	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.49139	0.8;0.79;0.8;0.8	5.4	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.76328	2.33	0.80722	D	1	D	0.58620	0.983	D	0.65443	0.935	T	0.70156	-0.4949	10	0.59425	D	0.04	-3.9599	14.0873	0.64964	0.0726:0.0:0.9274:0.0	.	397	Q92786	PROX1_HUMAN	V	397	ENSP00000420283:G397V;ENSP00000355925:G397V;ENSP00000400694:G397V;ENSP00000261454:G397V	ENSP00000261454:G397V	G	+	2	0	PROX1	212237691	1.000000	0.71417	0.997000	0.53966	0.195000	0.23768	7.876000	0.87215	1.283000	0.44513	-0.253000	0.11424	GGG		0.577	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		28	73	1	0	5.60225e-13	0.009535	7.35649e-13	28	73				
TARBP1	6894	broad.mit.edu	37	1	234529116	234529116	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:234529116G>C	ENST00000040877.1	-	28	4551	c.4552C>G	c.(4552-4554)Cta>Gta	p.L1518V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1518					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L1518V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACCTCCACTAGAGGAAGCCAC	0.418																																							uc001hwd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4552-4554)CTA>GTA		TAR RNA binding protein 1							67.0	62.0	64.0					1																	234529116		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529116G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4552C>G	1.37:g.234529116G>C	ENSP00000040877:p.Leu1518Val						p.L1518V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		28	4552	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1518					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4552C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940376	0.52972	.	.	ENSG00000059588	ENST00000040877	T	0.43294	0.95	5.83	-1.99	0.07457	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000002	T	0.35682	0.0940	N	0.25286	0.73	0.49687	D	0.999817	P	0.52316	0.952	P	0.51355	0.667	T	0.21930	-1.0231	10	0.49607	T	0.09	-23.0228	13.8217	0.63325	0.2919:0.0:0.7081:0.0	.	1518	Q13395	TARB1_HUMAN	V	1518	ENSP00000040877:L1518V	ENSP00000040877:L1518V	L	-	1	2	TARBP1	232595739	0.992000	0.36948	0.981000	0.43875	0.329000	0.28539	0.302000	0.19192	-0.135000	0.11495	-0.290000	0.09829	CTA		0.418	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		9	32	0	0	0	0.008291	0	9	32				
ARID4B	51742	broad.mit.edu	37	1	235377133	235377133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235377133C>A	ENST00000264183.3	-	17	2289	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E598*|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	598					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E598*(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCCACCTTCGACATCAGAA	0.388																																							uc001hwq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1792-1794)GAA>TAA		AT rich interactive domain 4B isoform 1							228.0	212.0	217.0					1																	235377133		2203	4300	6503	SO:0001587	stop_gained	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377133C>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1792G>T	1.37:g.235377133C>A	ENSP00000264183:p.Glu598*					ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E279*	p.E598*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2290	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	598					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	c.1792G>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	44	10.985372	0.99499	.	.	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	.	.	.	5.24	5.24	0.73138	.	0.112936	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.3398	18.8221	0.92102	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000264183:E598X	E	-	1	0	ARID4B	233443756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.439000	0.82584	0.650000	0.86243	GAA		0.388	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		48	88	1	0	6.27289e-28	0.01441	9.45479e-28	48	88				
ARID4B	51742	broad.mit.edu	37	1	235418974	235418975	+	Splice_Site	DNP	CC	CC	AA			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235418974_235418975CC>AA	ENST00000264183.3	-	5	771_772	c.274_275GG>TT	c.(274-276)GGt>TTt	p.G92F	ARID4B_ENST00000366603.2_Splice_Site_p.G92F|ARID4B_ENST00000349213.3_Splice_Site_p.G92F	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	92					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TATTTTCTTACCTACAGTGTAC	0.302																																							uc001hwq.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e5+1		AT rich interactive domain 4B isoform 1																																				SO:0001630	splice_region_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235418974_235418975CC>AA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.274_275delinsAA	1.37:g.235418974_235418975delinsAA						ARID4B_uc001hwr.2_Splice_Site_p.V92_splice|ARID4B_uc001hws.3_Splice_Site_p.V92_splice|ARID4B_uc001hwu.1_Splice_Site_p.V92_splice	p.V92_splice	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		5	772	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)						A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Splice_Site	DNP	ENST00000264183.3	37	c.274_splice	CCDS31061.1																																																																																				0.302	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	Missense_Mutation	17	14	0	0	0	0.004672	0	17	14				
LYST	1130	broad.mit.edu	37	1	235969806	235969806	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:235969806C>A	ENST00000389794.3	-	6	2804	c.2630G>T	c.(2629-2631)gGc>gTc	p.G877V	LYST_ENST00000389793.2_Missense_Mutation_p.G877V|LYST_ENST00000536965.1_Missense_Mutation_p.G877V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	877					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.G877V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTTGAGGCCAGCATAAAA	0.393																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2629-2631)GGC>GTC		lysosomal trafficking regulator							113.0	117.0	116.0					1																	235969806		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969806C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2630G>T	1.37:g.235969806C>A	ENSP00000374444:p.Gly877Val					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.G877V	p.G877V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2805	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	877					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2630G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334463	0.60853	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68765	-0.35;-0.35;0.79	5.48	1.28	0.21552	.	1.445410	0.03208	N	0.175748	T	0.65439	0.2691	L	0.50333	1.59	0.53688	D	0.999971	P;P	0.43633	0.813;0.722	B;B	0.42030	0.373;0.333	T	0.51419	-0.8708	10	0.48119	T	0.1	.	10.1959	0.43054	0.0:0.7243:0.0:0.2757	.	877;877	Q99698-3;Q99698	.;LYST_HUMAN	V	877	ENSP00000374444:G877V;ENSP00000374443:G877V;ENSP00000438315:G877V	ENSP00000374443:G877V	G	-	2	0	LYST	234036429	0.314000	0.24563	0.226000	0.23910	0.928000	0.56348	1.464000	0.35288	-0.013000	0.14199	-0.345000	0.07892	GGC		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			48	110	1	0	2.81731e-22	0.01441	4.06944e-22	48	110				
OR2G3	81469	broad.mit.edu	37	1	247769413	247769413	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:247769413C>A	ENST00000320002.2	+	1	558	c.526C>A	c.(526-528)Cat>Aat	p.H176N	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H176N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGGCTGGACCATTTTATTTG	0.448																																							uc010pyz.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(526-528)CAT>AAT		olfactory receptor, family 2, subfamily G,							168.0	155.0	159.0					1																	247769413		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769413C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.526C>A	1.37:g.247769413C>A	ENSP00000326301:p.His176Asn						p.H176N	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	526	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		176			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.526C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	6.155	0.396803	0.11638	.	.	ENSG00000177476	ENST00000320002	T	0.00164	8.64	3.65	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	U	0.002026	T	0.00356	0.0011	M	0.72624	2.21	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45760	-0.9239	10	0.42905	T	0.14	.	9.9077	0.41386	0.3675:0.6325:0.0:0.0	.	176	Q8NGZ4	OR2G3_HUMAN	N	176	ENSP00000326301:H176N	ENSP00000326301:H176N	H	+	1	0	OR2G3	245836036	0.003000	0.15002	0.007000	0.13788	0.026000	0.11368	0.353000	0.20130	0.284000	0.22305	-0.478000	0.04885	CAT		0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			38	65	1	0	4.44401e-20	0.010771	6.24564e-20	38	65				
OR2L13	284521	broad.mit.edu	37	1	248153979	248153979	+	Intron	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248153979A>T	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CGTATGAGAAAAAGAGTGTGT	0.468																																							uc001idv.1		NA																	0					0						c.(166-168)AAA>ATA		RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;																																				SO:0001627	intron_variant	26247							g.chr1:248153979A>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53293A>T	1.37:g.248153979A>T						OR2L13_uc001ids.2_Intron	p.K56I	NR_002145						1	411	+								Q5VUR5	Missense_Mutation	SNP	ENST00000366478.2	37	c.167A>T	CCDS1637.1																																																																																				0.468	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911		59	57	0	0	0	0.01441	0	59	57				
OR2M5	127059	broad.mit.edu	37	1	248308469	248308469	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248308469C>A	ENST00000366476.1	+	1	20	c.20C>A	c.(19-21)aCc>aAc	p.T7N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T7N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGAATCAGACCTTCAACTCT	0.428																																							uc010pze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(19-21)ACC>AAC		olfactory receptor, family 2, subfamily M,							212.0	209.0	210.0					1																	248308469		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308469C>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.20C>A	1.37:g.248308469C>A	ENSP00000355432:p.Thr7Asn						p.T7N	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	20	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		7			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.20C>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	9.405	1.079049	0.20227	.	.	ENSG00000162727	ENST00000366476	T	0.53857	0.6	2.86	-0.601	0.11638	.	0.000000	0.32987	U	0.005416	T	0.42944	0.1225	M	0.63169	1.94	0.09310	N	1	B	0.20164	0.042	B	0.21151	0.033	T	0.40664	-0.9551	10	0.66056	D	0.02	.	5.2858	0.15700	0.3538:0.5344:0.0:0.1118	.	7	A3KFT3	OR2M5_HUMAN	N	7	ENSP00000355432:T7N	ENSP00000355432:T7N	T	+	2	0	OR2M5	246375092	0.000000	0.05858	0.002000	0.10522	0.485000	0.33311	0.594000	0.24014	0.004000	0.14682	0.492000	0.49549	ACC		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		80	159	1	0	1.13027e-35	0.01441	1.73887e-35	80	159				
OR2T6	254879	broad.mit.edu	37	1	248550931	248550931	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248550931T>A	ENST00000355728.2	+	1	22	c.22T>A	c.(22-24)Ttg>Atg	p.L8M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L8M(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGAAACCTTGACCAGAGG	0.403																																							uc001iei.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(22-24)TTG>ATG		olfactory receptor, family 2, subfamily T,							103.0	104.0	103.0					1																	248550931		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550931T>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.22T>A	1.37:g.248550931T>A	ENSP00000347965:p.Leu8Met						p.L8M	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	22	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.22T>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	8.699	0.909200	0.17833	.	.	ENSG00000198104	ENST00000355728	T	0.20463	2.07	4.9	-0.574	0.11738	.	0.679950	0.12210	N	0.489426	T	0.13030	0.0316	L	0.37630	1.12	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.26950	-1.0088	10	0.34782	T	0.22	.	3.2427	0.06787	0.1171:0.0832:0.3247:0.475	.	8	Q8NHC8	OR2T6_HUMAN	M	8	ENSP00000347965:L8M	ENSP00000347965:L8M	L	+	1	2	OR2T6	246617554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.532000	0.02217	0.268000	0.21939	-0.329000	0.08387	TTG		0.403	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		32	61	0	0	0	0.013726	0	32	61				
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr1:248637272C>A	ENST00000359594.2	+	1	646	c.621C>A	c.(619-621)tgC>tgA	p.C207*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537																																							uc001iel.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(619-621)TGC>TGA		olfactory receptor, family 2, subfamily T,							213.0	170.0	184.0					1																	248637272		2136	4218	6354	SO:0001587	stop_gained	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637272C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.621C>A	1.37:g.248637272C>A	ENSP00000352604:p.Cys207*						p.C207*	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	621	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207			Helical; Name=5; (Potential).		B2RNJ1	Nonsense_Mutation	SNP	ENST00000359594.2	37	c.621C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.944679	0.53079	.	.	ENSG00000196539	ENST00000359594	.	.	.	2.37	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5717	0.22543	0.2856:0.7144:0.0:0.0	.	.	.	.	X	207	.	ENSP00000352604:C207X	C	+	3	2	OR2T3	246703895	0.000000	0.05858	0.329000	0.25429	0.353000	0.29299	-1.489000	0.02306	1.014000	0.39417	0.186000	0.17326	TGC		0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		87	137	1	0	4.08182e-41	0.01441	6.35494e-41	87	137				
AKR1C2	1646	broad.mit.edu	37	10	5040898	5040898	+	Missense_Mutation	SNP	G	G	C	rs139670873		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:5040898G>C	ENST00000380753.4	-	5	676	c.489C>G	c.(487-489)atC>atG	p.I163M	AKR1C2_ENST00000421196.3_Missense_Mutation_p.I137M|AKR1C2_ENST00000407674.1_Missense_Mutation_p.I163M|RP11-499O7.7_ENST00000451575.2_RNA|RP11-499O7.7_ENST00000440414.1_RNA	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	163					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.I163M(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	TGGACACCCCGATGGACTTGG	0.512																																							uc010qan.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)ATC>ATG		aldo-keto reductase family 1, member C2	NADH(DB00157)|Ursodeoxycholic acid(DB01586)						159.0	135.0	144.0					10																	5040898		2203	4300	6503	SO:0001583	missense	1646				digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5040898G>C	L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.489C>G	10.37:g.5040898G>C	ENSP00000370129:p.Ile163Met					AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Missense_Mutation_p.I137M|AKR1C2_uc001ihs.2_Missense_Mutation_p.I163M|AKR1C2_uc001iht.2_Missense_Mutation_p.I163M	p.I163M	NM_205845	NP_995317	P52895	AK1C2_HUMAN			5	668	-			163					A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Missense_Mutation	SNP	ENST00000380753.4	37	c.489C>G	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682900	0.29872	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674	T;T;T	0.35973	1.28;1.28;1.28	2.78	-3.24	0.05094	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000005	T	0.62466	0.2430	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64769	-0.6329	10	0.87932	D	0	.	8.9986	0.36068	0.8249:0.0:0.1751:0.0	.	137;163	B4DK69;P52895	.;AK1C2_HUMAN	M	163;137;163	ENSP00000370129:I163M;ENSP00000392694:I137M;ENSP00000385221:I163M	ENSP00000370129:I163M	I	-	3	3	AKR1C2	5030898	0.078000	0.21339	0.973000	0.42090	0.366000	0.29705	-0.855000	0.04295	-0.820000	0.04318	0.508000	0.49915	ATC		0.512	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354		3	61	0	0	0	0.004672	0	3	61				
FAM171A1	221061	broad.mit.edu	37	10	15255941	15255941	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:15255941T>A	ENST00000378116.4	-	8	1652	c.1646A>T	c.(1645-1647)gAg>gTg	p.E549V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	549						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E549V(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTAGGTCTCTCGAGGTGATC	0.547																																							uc001iob.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(1645-1647)GAG>GTG		hypothetical protein LOC221061 precursor							132.0	135.0	134.0					10																	15255941		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255941T>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1646A>T	10.37:g.15255941T>A	ENSP00000367356:p.Glu549Val						p.E549V	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	1653	-			549			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.1646A>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980934	0.53827	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.36340	1.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56992	-0.7887	10	0.46703	T	0.11	-32.4983	15.8062	0.78513	0.0:0.0:0.0:1.0	.	549	Q5VUB5	F1711_HUMAN	V	549;548	ENSP00000367356:E549V	ENSP00000367356:E549V	E	-	2	0	FAM171A1	15295947	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	4.907000	0.63300	2.317000	0.78254	0.460000	0.39030	GAG		0.547	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		25	81	0	0	0	0.00333	0	25	81				
CUBN	8029	broad.mit.edu	37	10	16942702	16942702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:16942702G>A	ENST00000377833.4	-	53	8397	c.8332C>T	c.(8332-8334)Cag>Tag	p.Q2778*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2778	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.Q2778*(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)	ACGACCAGCTGATTGGAACCT	0.443																																							uc001ioo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8332-8334)CAG>TAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						196.0	165.0	175.0					10																	16942702		2203	4300	6503	SO:0001587	stop_gained	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.chr10:16942702G>A	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.8332C>T	10.37:g.16942702G>A	ENSP00000367064:p.Gln2778*					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.Q134*	p.Q2778*	NM_001081	NP_001072	O60494	CUBN_HUMAN			53	8384	-			2778			CUB 20.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.8332C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	47	13.828161	0.99765	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.59	4.69	0.59074	.	0.000000	0.42420	D	0.000713	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	10.8111	0.46547	0.0:0.1165:0.6371:0.2463	.	.	.	.	X	2778	.	ENSP00000367064:Q2778X	Q	-	1	0	CUBN	16982708	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	2.877000	0.48506	1.507000	0.48752	-0.121000	0.15023	CAG		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	62	0	0	0	0.013537	0	13	62				
CUBN	8029	broad.mit.edu	37	10	16949593	16949593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:16949593C>T	ENST00000377833.4	-	49	7684	c.7619G>A	c.(7618-7620)gGa>gAa	p.G2540E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2540	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.G2540E(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)	CATTGTGTTTCCTGAAGATTT	0.413																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7618-7620)GGA>GAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111.0	92.0	99.0					10																	16949593		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.chr10:16949593C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7619G>A	10.37:g.16949593C>T	ENSP00000367064:p.Gly2540Glu					CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	p.G2540E	NM_001081	NP_001072	O60494	CUBN_HUMAN			49	7671	-			2540			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7619G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256223	0.59321	.	.	ENSG00000107611	ENST00000377833	T	0.34472	1.36	5.38	4.47	0.54385	CUB (5);	0.000000	0.46145	D	0.000306	T	0.67961	0.2949	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77547	-0.2547	10	0.87932	D	0	.	15.6572	0.77150	0.0:0.7414:0.2586:0.0	.	2540	O60494	CUBN_HUMAN	E	2540	ENSP00000367064:G2540E	ENSP00000367064:G2540E	G	-	2	0	CUBN	16989599	1.000000	0.71417	0.996000	0.52242	0.416000	0.31233	4.159000	0.58157	1.367000	0.46095	0.650000	0.86243	GGA		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	33	0	0	0	0.006214	0	9	33				
MKX	283078	broad.mit.edu	37	10	28023610	28023610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:28023610C>G	ENST00000375790.5	-	5	1045	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	MKX_ENST00000419761.1_Missense_Mutation_p.E205Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	205					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E205Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCCCGTGACTCTGGCCTCACT	0.502																																							uc001ity.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)GAG>CAG		mohawk homeobox							158.0	152.0	154.0					10																	28023610		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023610C>G	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.613G>C	10.37:g.28023610C>G	ENSP00000364946:p.Glu205Gln					MKX_uc001itx.3_Missense_Mutation_p.E205Q	p.E205Q	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			5	838	-			205					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.613G>C	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159765	0.57368	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.65732	-0.17;-0.17	5.56	5.56	0.83823	.	0.173377	0.51477	N	0.000096	T	0.59445	0.2194	L	0.51422	1.61	0.43632	D	0.996021	B	0.02656	0.0	B	0.06405	0.002	T	0.52968	-0.8504	10	0.29301	T	0.29	-18.4839	19.5918	0.95518	0.0:1.0:0.0:0.0	.	205	Q8IYA7	MKX_HUMAN	Q	205	ENSP00000364946:E205Q;ENSP00000400896:E205Q	ENSP00000364946:E205Q	E	-	1	0	MKX	28063616	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.107000	0.77047	2.626000	0.88956	0.558000	0.71614	GAG		0.502	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		43	47	0	0	0	0.013114	0	43	47				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	43	0	0	0	0.009096	0	4	43				
OR13A1	79290	broad.mit.edu	37	10	45798999	45798999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:45798999A>T	ENST00000553795.1	-	4	1180	c.872T>A	c.(871-873)tTg>tAg	p.L291*	OR13A1_ENST00000374401.2_Nonsense_Mutation_p.L291*|OR13A1_ENST00000536058.1_Nonsense_Mutation_p.L291*	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L291*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGGCCAGCCAACTTGCTCTT	0.542																																							uc001jcc.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(871-873)TTG>TAG		olfactory receptor, family 13, subfamily A,							70.0	65.0	67.0					10																	45798999		2203	4300	6503	SO:0001587	stop_gained	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45798999A>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.872T>A	10.37:g.45798999A>T	ENSP00000451950:p.Leu291*					OR13A1_uc001jcd.1_Nonsense_Mutation_p.L287*	p.L291*	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	1181	-			291			Helical; Name=7; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Nonsense_Mutation	SNP	ENST00000553795.1	37	c.872T>A	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.316356	0.81469	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	.	.	.	5.68	4.52	0.55395	.	0.690457	0.11862	N	0.522323	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.7853	5.9311	0.19140	0.748:0.1685:0.0835:0.0	.	.	.	.	X	291	.	ENSP00000311379:L291X	L	-	2	0	OR13A1	45119005	0.002000	0.14202	0.988000	0.46212	0.653000	0.38743	1.943000	0.40253	0.950000	0.37743	0.529000	0.55759	TTG		0.542	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		9	45	0	0	0	0.008291	0	9	45				
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:48390446C>A	ENST00000224600.4	-	1	545	c.432G>T	c.(430-432)ctG>ctT	p.L144L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	144	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L144L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCATCATGCTCAGCACCTCCT	0.642																																							uc001jez.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(430-432)CTG>CTT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						69.0	75.0	73.0					10																	48390446		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390446C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.432G>T	10.37:g.48390446C>A							p.L144L	NM_002900	NP_002891	P10745	RET3_HUMAN			1	546	-			144			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.432G>T	CCDS7218.1																																																																																				0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		9	69	1	0	0.000442599	0.006214	0.000467788	9	69				
PGBD3	267004	broad.mit.edu	37	10	50723384	50723384	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:50723384C>T	ENST00000374127.3	-	2	1978	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	PGBD3_ENST00000508005.2_Missense_Mutation_p.E593K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E1061K|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.E1061K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E1061K	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	593								p.E593K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACCTGCTATTCAGTGTGATAT	0.393																																							uc001jht.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(1777-1779)GAA>AAA		hypothetical protein LOC267004							127.0	114.0	119.0					10																	50723384		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50723384C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1777G>A	10.37:g.50723384C>T	ENSP00000363242:p.Glu593Lys					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.E1061K|PGBD3_uc001jhu.2_Missense_Mutation_p.E1061K	p.E593K	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	2032	-			593					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1777G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928355	0.18131	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.14266	2.52;2.52;3.4;3.4	0.468	0.468	0.16732	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.21020	N	0.999801	P;B	0.46578	0.88;0.012	P;B	0.50270	0.636;0.001	T	0.28106	-1.0054	8	0.11485	T	0.65	.	.	.	.	.	1061;593	E7EV46;Q8N328	.;PGBD3_HUMAN	K	593;593;1061;1061	ENSP00000363242:E593K;ENSP00000426963:E593K;ENSP00000423550:E1061K;ENSP00000387966:E1061K	ENSP00000387966:E1061K	E	-	1	0	PGBD3;RP11-123B3.6	50393390	0.119000	0.22226	0.207000	0.23584	0.261000	0.26267	-0.054000	0.11826	0.488000	0.27723	0.491000	0.48974	GAA		0.393	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			16	56	0	0	0	0.003163	0	16	56				
ZWINT	11130	broad.mit.edu	37	10	58118196	58118196	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:58118196C>T	ENST00000373944.3	-	8	855	c.817G>A	c.(817-819)Gat>Aat	p.D273N	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.D153N|ZWINT_ENST00000361148.6_Missense_Mutation_p.D226N|ZWINT_ENST00000395405.1_Missense_Mutation_p.D273N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	273					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.D273N(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AAATTTACATCTCCAGCAGGT	0.522																																							uc001jjx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GAT>AAT		ZW10 interactor isoform a							103.0	95.0	98.0					10																	58118196		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118196C>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.817G>A	10.37:g.58118196C>T	ENSP00000363055:p.Asp273Asn					ZWINT_uc001jjy.1_Missense_Mutation_p.D226N|ZWINT_uc001jka.1_Missense_Mutation_p.D273N	p.D273N	NM_007057	NP_008988	O95229	ZWINT_HUMAN			8	854	-			273					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.817G>A	CCDS7249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.898|8.898	0.955689|0.955689	0.18507|0.18507	.|.	.|.	ENSG00000122952|ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148|ENST00000373940	T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84|.	3.82|3.82	1.85|1.85	0.25348|0.25348	.|.	0.852476|.	0.09589|.	N|.	0.781721|.	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P|.	0.36535|.	0.557;0.557|.	B;B|.	0.36289|.	0.221;0.167|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|6	0.87932|0.51188	D|T	0|0.08	-11.2027|-11.2027	5.9189|5.9189	0.19070|0.19070	0.2327:0.5522:0.2151:0.0|0.2327:0.5522:0.2151:0.0	.|.	226;273|.	A6NNV6;O95229|.	.;ZWINT_HUMAN|.	N|K	273;273;153;226|86	ENSP00000363055:D273N;ENSP00000378801:D273N;ENSP00000322850:D153N;ENSP00000354921:D226N|.	ENSP00000322850:D153N|ENSP00000363051:R86K	D|R	-|-	1|2	0|0	ZWINT|ZWINT	57788202|57788202	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.029000|0.029000	0.11900|0.11900	-0.260000|-0.260000	0.08708|0.08708	0.523000|0.523000	0.28482|0.28482	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.522	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			17	31	0	0	0	0.007413	0	17	31				
SLC16A9	220963	broad.mit.edu	37	10	61424037	61424037	+	Silent	SNP	C	C	A	rs2306162	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:61424037C>A	ENST00000395348.3	-	4	1020	c.384G>T	c.(382-384)acG>acT	p.T128T	SLC16A9_ENST00000395347.1_Silent_p.T128T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	128					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.T128T(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATACTGGCACGTAATGGTCA	0.403																																							uc010qig.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(382-384)ACG>ACT		solute carrier family 16 (monocarboxylic acid							144.0	135.0	138.0					10																	61424037		2203	4300	6503	SO:0001819	synonymous_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61424037C>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.384G>T	10.37:g.61424037C>A							p.T128T	NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN			4	833	-			128			Extracellular (Potential).		Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	c.384G>T	CCDS7256.1																																																																																				0.403	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		12	49	1	0	0.000151284	0.001855	0.000162202	12	49				
PALD1	27143	broad.mit.edu	37	10	72292514	72292514	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:72292514C>A	ENST00000263563.6	+	6	1039	c.771C>A	c.(769-771)ccC>ccA	p.P257P		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	257						cytosol (GO:0005829)		p.P257P(1)									ACAAGCGGCCCCTCTTCCTGC	0.622																																							uc001jrd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(769-771)CCC>CCA		KIAA1274							154.0	131.0	139.0					10																	72292514		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72292514C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.771C>A	10.37:g.72292514C>A							p.P257P	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			6	1052	+			257					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.771C>A	CCDS31215.1																																																																																				0.622	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		34	39	1	0	1.26612e-14	0.003271	1.68816e-14	34	39				
PALD1	27143	broad.mit.edu	37	10	72300942	72300942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:72300942C>T	ENST00000263563.6	+	16	2261	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	665						cytosol (GO:0005829)		p.Q665*(1)									CCTCAGCGGCCAGGGCCGTAC	0.607																																							uc001jrd.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1993-1995)CAG>TAG		KIAA1274							55.0	59.0	58.0					10																	72300942		2203	4300	6503	SO:0001587	stop_gained	27143							g.chr10:72300942C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1993C>T	10.37:g.72300942C>T	ENSP00000263563:p.Gln665*					KIAA1274_uc001jre.3_5'UTR	p.Q665*	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			16	2274	+			665					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	c.1993C>T	CCDS31215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	41|41	8.880927|8.880927	0.98988|0.98988	.|.	.|.	ENSG00000107719|ENSG00000107719	ENST00000426268|ENST00000263563;ENST00000373214	.|.	.|.	.|.	3.52|3.52	3.52|3.52	0.40303|0.40303	.|.	.|0.198321	.|0.42420	.|D	.|0.000706	T|.	0.23330|.	0.0564|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30119|.	-0.9989|.	3|.	.|0.02654	.|T	.|1	-12.4411|-12.4411	9.6539|9.6539	0.39914|0.39914	0.3528:0.6472:0.0:0.0|0.3528:0.6472:0.0:0.0	.|.	.|.	.|.	.|.	L|X	45|665	.|.	.|ENSP00000263563:Q665X	P|Q	+|+	2|1	0|0	KIAA1274|KIAA1274	71970948|71970948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	3.110000|3.110000	0.50352|0.50352	1.812000|1.812000	0.52913|0.52913	0.435000|0.435000	0.28638|0.28638	CCA|CAG		0.607	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		31	41	0	0	0	0.012213	0	31	41				
DLG5	9231	broad.mit.edu	37	10	79590564	79590564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:79590564C>T	ENST00000372391.2	-	10	1821	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	DLG5_ENST00000372388.2_Missense_Mutation_p.D606N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	606					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.D606N(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGCCGAGTCGTGGGAGCTG	0.562																																							uc001jzk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(1816-1818)GAC>AAC		discs large homolog 5							127.0	102.0	110.0					10																	79590564		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79590564C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1816G>A	10.37:g.79590564C>T	ENSP00000361467:p.Asp606Asn					DLG5_uc001jzj.2_Missense_Mutation_p.D361N|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.D210N	p.D606N	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		10	1886	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		606					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1816G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	34	5.334923	0.95758	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.16743	2.32;2.32	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.000000	0.41396	D	0.000889	T	0.38188	0.1031	L	0.50333	1.59	0.48341	D	0.999634	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.01053	-1.1467	10	0.29301	T	0.29	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	496;606;606	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	N	606;606;155	ENSP00000361467:D606N;ENSP00000361464:D606N	ENSP00000361464:D606N	D	-	1	0	DLG5	79260570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.666000	0.90696	0.561000	0.74099	GAC		0.562	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	37	0	0	0	0.013537	0	10	37				
GRID1	2894	broad.mit.edu	37	10	87615902	87615902	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:87615902C>A	ENST00000327946.7	-	7	1082	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	333					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A333S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTGAAAGGCGTTGGCCAGC	0.512										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(997-999)GCC>TCC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						109.0	94.0	99.0					10																	87615902		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87615902C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.997G>T	10.37:g.87615902C>A	ENSP00000330148:p.Ala333Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.A333S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			7	1098	-			333			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.997G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201227	0.94997	.	.	ENSG00000182771	ENST00000327946	D	0.94576	-3.46	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97034	0.9752	10	0.66056	D	0.02	.	18.2321	0.89937	0.0:1.0:0.0:0.0	.	333	Q9ULK0	GRID1_HUMAN	S	333	ENSP00000330148:A333S	ENSP00000330148:A333S	A	-	1	0	GRID1	87605882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.554000	0.86153	0.650000	0.86243	GCC		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		17	32	1	0	9.16793e-09	0.00499	1.08348e-08	17	32				
OPALIN	93377	broad.mit.edu	37	10	98105779	98105779	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:98105779C>A	ENST00000371172.3	-	6	750	c.345G>T	c.(343-345)gtG>gtT	p.V115V	OPALIN_ENST00000419479.1_Silent_p.V105V|OPALIN_ENST00000393871.1_Silent_p.V92V|OPALIN_ENST00000536387.1_Silent_p.V105V|OPALIN_ENST00000393870.2_Silent_p.V104V	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	115						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V105V(1)|p.V115V(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						AACGGTCATGCACAGGTTCCT	0.498																																							uc001kmj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(343-345)GTG>GTT		transmembrane protein 10 isoform a							202.0	171.0	182.0					10																	98105779		2203	4300	6503	SO:0001819	synonymous_variant	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105779C>A	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.345G>T	10.37:g.98105779C>A						OPALIN_uc010qor.1_Silent_p.V105V|OPALIN_uc001kmi.2_Silent_p.V105V|OPALIN_uc001kmk.2_Silent_p.V92V|OPALIN_uc010qos.1_RNA	p.V115V	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN			6	784	-			115					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Silent	SNP	ENST00000371172.3	37	c.345G>T	CCDS7448.1																																																																																				0.498	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		32	110	1	0	2.68265e-12	0.013726	3.47009e-12	32	110				
SFRP5	6425	broad.mit.edu	37	10	99531423	99531423	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:99531423G>A	ENST00000266066.3	-	1	286	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	56	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|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 JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I56I(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GGTCGGCAGGGATGTCAAGGC	0.687																																							uc001kor.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(166-168)ATC>ATT		secreted frizzled-related protein 5 precursor							15.0	18.0	17.0					10																	99531423		2191	4284	6475	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99531423G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.168C>T	10.37:g.99531423G>A							p.I56I	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	1	334	-		Colorectal(252;0.234)	56			FZ.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.168C>T	CCDS7472.1																																																																																				0.687	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		3	25	0	0	0	0.004672	0	3	25				
ATRNL1	26033	broad.mit.edu	37	10	117040882	117040882	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr10:117040882C>A	ENST00000355044.3	+	14	2244	c.2118C>A	c.(2116-2118)acC>acA	p.T706T		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	706	PSI 2.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T706T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGAACTACACCAAATGTCATG	0.348																																							uc001lcg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2116-2118)ACC>ACA		attractin-like 1 precursor							82.0	77.0	79.0					10																	117040882		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117040882C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2118C>A	10.37:g.117040882C>A							p.T706T	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	14	2504	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	706			PSI 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2118C>A	CCDS7592.1																																																																																				0.348	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		10	37	1	0	3.07112e-06	0.010729	3.40508e-06	10	37				
CDHR5	53841	broad.mit.edu	37	11	617536	617536	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:617536C>G	ENST00000358353.3	-	16	2675	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.E591Q|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.E785Q|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	785					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.E785Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TACCCGCCCTCCGGCCGCCGC	0.716																																							uc001lqj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2353-2355)GAG>CAG		mucin and cadherin-like isoform 1							25.0	26.0	26.0					11																	617536		2190	4284	6474	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617536C>G	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2353G>C	11.37:g.617536C>G	ENSP00000351118:p.Glu785Gln					IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.E591Q|CDHR5_uc009ycc.2_Missense_Mutation_p.E619Q|CDHR5_uc009ycd.2_Missense_Mutation_p.E779Q|CDHR5_uc001lql.2_Missense_Mutation_p.E785Q	p.E785Q	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			15	2458	-			785			Cytoplasmic (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.2353G>C	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958264	0.34565	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.59224	0.28;0.28;0.33	3.95	3.03	0.35002	.	.	.	.	.	T	0.59376	0.2189	L	0.50333	1.59	0.09310	N	1	D;P;P	0.63046	0.992;0.827;0.827	P;B;B	0.54174	0.744;0.345;0.345	T	0.46219	-0.9207	9	0.37606	T	0.19	-27.7686	7.8626	0.29517	0.0:0.879:0.0:0.121	.	779;591;785	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	Q	785;785;591	ENSP00000380676:E785Q;ENSP00000351118:E785Q;ENSP00000345726:E591Q	ENSP00000345726:E591Q	E	-	1	0	CDHR5	607536	0.128000	0.22383	0.088000	0.20740	0.322000	0.28314	1.752000	0.38349	0.788000	0.33755	0.511000	0.50034	GAG		0.716	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		5	20	0	0	0	0.001168	0	5	20				
OR52I2	143502	broad.mit.edu	37	11	4608963	4608963	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:4608963A>T	ENST00000312614.4	+	1	943	c.921A>T	c.(919-921)ctA>ctT	p.L307L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L307L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTCCTGCTAGCTGACCTGT	0.512																																							uc010qyh.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(919-921)CTA>CTT		olfactory receptor, family 52, subfamily I,							215.0	198.0	204.0					11																	4608963		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608963A>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.921A>T	11.37:g.4608963A>T							p.L307L	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	921	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	307			Helical; Name=7; (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.921A>T	CCDS31355.1																																																																																				0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		31	80	0	0	0	0.008361	0	31	80				
OR51A4	401666	broad.mit.edu	37	11	4967800	4967800	+	Silent	SNP	G	G	A	rs373266822		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:4967800G>A	ENST00000380373.2	-	1	556	c.531C>T	c.(529-531)tcC>tcT	p.S177S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S177S(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGGAATGGGATAATTGGT	0.413																																							uc010qys.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(529-531)TCC>TCT		olfactory receptor, family 51, subfamily A,							132.0	126.0	128.0					11																	4967800		2191	4283	6474	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967800G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.531C>T	11.37:g.4967800G>A							p.S177S	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	531	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	177			Extracellular (Potential).			Silent	SNP	ENST00000380373.2	37	c.531C>T	CCDS31367.1																																																																																				0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		15	125	0	0	0	0.008871	0	15	125				
C11orf42	160298	broad.mit.edu	37	11	6231697	6231697	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:6231697C>T	ENST00000316375.2	+	2	740	c.690C>T	c.(688-690)ctC>ctT	p.L230L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	230	Pro-rich.							p.L230L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCCAACCTCAGCATCATGC	0.607																																							uc001mcj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(688-690)CTC>CTT		hypothetical protein LOC160298							76.0	86.0	83.0					11																	6231697		2201	4296	6497	SO:0001819	synonymous_variant	160298							g.chr11:6231697C>T	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.690C>T	11.37:g.6231697C>T							p.L230L	NM_173525	NP_775796	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	738	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	230			Pro-rich.			Silent	SNP	ENST00000316375.2	37	c.690C>T	CCDS7759.1																																																																																				0.607	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		18	59	0	0	0	0.012319	0	18	59				
CALCB	797	broad.mit.edu	37	11	15098972	15098972	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:15098972G>T	ENST00000533448.1	+	4	476	c.365G>T	c.(364-366)cGc>cTc	p.R122L	CALCB_ENST00000324229.6_Missense_Mutation_p.R122L|CALCB_ENST00000523376.1_Missense_Mutation_p.R133L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	122					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R122L(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCAGGCGCCGCAGGGACCTT	0.542																																							uc001mlx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGC>CTC		calcitonin-related polypeptide, beta precursor							43.0	40.0	41.0					11																	15098972		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15098972G>T		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.365G>T	11.37:g.15098972G>T	ENSP00000433490:p.Arg122Leu					CALCB_uc009ygr.1_Missense_Mutation_p.R122L	p.R122L	NM_000728	NP_000719	P10092	CALCB_HUMAN			4	438	+			122					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.365G>T	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788422	0.90367	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.64618	-0.11;-0.11;-0.11	5.08	5.08	0.68730	Calcitonin peptide-like (1);	0.456574	0.18267	N	0.146435	D	0.82360	0.5020	M	0.86028	2.79	0.40571	D	0.981302	D	0.89917	1.0	D	0.91635	0.999	D	0.85483	0.1180	10	0.87932	D	0	-1.53	18.8279	0.92125	0.0:0.0:1.0:0.0	.	122	P10092	CALCB_HUMAN	L	133;122;122	ENSP00000428882:R133L;ENSP00000346017:R122L;ENSP00000433490:R122L	ENSP00000346017:R122L	R	+	2	0	CALCB	15055548	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.420000	0.73349	2.501000	0.84356	0.462000	0.41574	CGC		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		7	17	1	0	0.00448238	0.004482	0.0046064	7	17				
DCDC1	341019	broad.mit.edu	37	11	31115714	31115714	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:31115714G>A	ENST00000597505.1	-	14	2000	c.2001C>T	c.(1999-2001)gtC>gtT	p.V667V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	82					intracellular signal transduction (GO:0035556)			p.V286V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGGCATGAAGGACAATATTGG	0.423																																							uc009yjk.1		NA																	1	Substitution - coding silent(1)		lung(1)		NA						c.(343-345)GTC>GTT		RecName: Full=Doublecortin domain-containing protein 5;							101.0	106.0	104.0					11																	31115714		2059	4214	6273	SO:0001819	synonymous_variant	0							g.chr11:31115714G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2001C>T	11.37:g.31115714G>A						uc009yjl.1_Silent_p.V43V|DCDC1_uc001msu.1_Silent_p.V286V	p.V115V							4	414	-								A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.345C>T																																																																																					0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		9	23	0	0	0	0.010729	0	9	23				
PAX6	5080	broad.mit.edu	37	11	31815103	31815103	+	Splice_Site	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:31815103T>A	ENST00000379132.3	-	10	1197		c.e10-2		PAX6_ENST00000379129.2_Splice_Site|PAX6_ENST00000379115.4_Splice_Site|PAX6_ENST00000379111.2_Splice_Site|PAX6_ENST00000379123.5_Splice_Site|PAX6_ENST00000419022.1_Splice_Site|PAX6_ENST00000379107.2_Splice_Site|PAX6_ENST00000241001.8_Splice_Site			P26367	PAX6_HUMAN	paired box 6						astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AGGAGGAAACTGAGGGCAAGA	0.498									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																														uc001mtd.3		NA																	2	Unknown(2)		lung(1)|endometrium(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	GRCh37	CS951501	PAX6	S		c.e10-1		paired box gene 6 isoform a							121.0	123.0	123.0					11																	31815103		2202	4299	6501	SO:0001630	splice_region_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815103T>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.917-2A>T	11.37:g.31815103T>A						PAX6_uc001mte.3_Splice_Site_p.V306_splice|PAX6_uc001mtg.3_Splice_Site_p.V320_splice|PAX6_uc001mtf.3_Splice_Site_p.V306_splice|PAX6_uc001mth.3_Splice_Site_p.V306_splice|PAX6_uc009yjr.2_Splice_Site_p.V306_splice	p.V306_splice	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			10	1807	-	Lung SC(675;0.225)							Q6N006|Q99413	Splice_Site	SNP	ENST00000379132.3	37	c.917_splice	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213647	0.39102	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373	.	.	.	5.77	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3178	0.54966	0.1263:0.0:0.0:0.8737	.	.	.	.	.	-1	.	.	.	-	.	.	PAX6	31771679	1.000000	0.71417	0.992000	0.48379	0.316000	0.28119	7.475000	0.81041	2.179000	0.69175	0.523000	0.50628	.		0.498	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	Intron	7	36	0	0	0	0.001984	0	7	36				
MADD	8567	broad.mit.edu	37	11	47296127	47296127	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:47296127G>A	ENST00000311027.5	+	3	241	c.76G>A	c.(76-78)Gat>Aat	p.D26N	MADD_ENST00000402192.2_Missense_Mutation_p.D26N|MADD_ENST00000402799.1_Missense_Mutation_p.D26N|MADD_ENST00000407859.3_Missense_Mutation_p.D26N|MADD_ENST00000342922.4_Missense_Mutation_p.D26N|MADD_ENST00000349238.3_Missense_Mutation_p.D26N|MADD_ENST00000395344.3_Missense_Mutation_p.D26N|MADD_ENST00000395336.3_Missense_Mutation_p.D26N|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000406482.1_Missense_Mutation_p.D26N|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.D26N(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCGAGCAGTGATAGCGTGGC	0.498																																							uc001ner.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(76-78)GAT>AAT		MAP-kinase activating death domain-containing							129.0	129.0	129.0					11																	47296127		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296127G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.76G>A	11.37:g.47296127G>A	ENSP00000310933:p.Asp26Asn					MADD_uc001neq.2_Missense_Mutation_p.D26N|MADD_uc001nev.1_Missense_Mutation_p.D26N|MADD_uc001nes.1_Missense_Mutation_p.D26N|MADD_uc001net.1_Missense_Mutation_p.D26N|MADD_uc009yln.1_Missense_Mutation_p.D26N|MADD_uc001neu.1_Missense_Mutation_p.D26N|MADD_uc001nex.2_Missense_Mutation_p.D26N|MADD_uc001nez.2_Missense_Mutation_p.D26N|MADD_uc001new.2_Missense_Mutation_p.D26N	p.D26N	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	267	+			26			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.76G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457419	0.63401	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T	0.06068	3.45;3.36;3.35;3.45;3.45;3.35;3.36;3.45;3.45	5.98	5.98	0.97165	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	N	0.12182	0.205	0.80722	D	1	D;B;D;P;P;B;B;D;B;B	0.89917	1.0;0.226;0.999;0.724;0.532;0.216;0.34;0.999;0.112;0.104	D;B;D;B;B;B;B;D;B;B	0.87578	0.991;0.132;0.992;0.37;0.37;0.28;0.234;0.998;0.056;0.316	T	0.39901	-0.9591	10	0.30078	T	0.28	-24.5534	20.4561	0.99145	0.0:0.0:1.0:0.0	.	26;26;26;26;26;26;26;26;26;26	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	N	26	ENSP00000343902:D26N;ENSP00000385585:D26N;ENSP00000384435:D26N;ENSP00000304505:D26N;ENSP00000310933:D26N;ENSP00000384204:D26N;ENSP00000378753:D26N;ENSP00000378745:D26N;ENSP00000384287:D26N	ENSP00000310933:D26N	D	+	1	0	MADD	47252703	1.000000	0.71417	0.989000	0.46669	0.462000	0.32619	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAT		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			34	104	0	0	0	0.013726	0	34	104				
OR4S1	256148	broad.mit.edu	37	11	48328531	48328531	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:48328531A>G	ENST00000319988.1	+	1	757	c.757A>G	c.(757-759)Atg>Gtg	p.M253V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M253V(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGCCCCCCATGTTCATGTA	0.488																																							uc010rhu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)ATG>GTG		olfactory receptor, family 4, subfamily S,							239.0	218.0	225.0					11																	48328531		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328531A>G	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.757A>G	11.37:g.48328531A>G	ENSP00000321447:p.Met253Val						p.M253V	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	757	+			253			Helical; Name=6; (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.757A>G	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	9.366	1.069375	0.20147	.	.	ENSG00000176555	ENST00000319988	T	0.35421	1.31	5.02	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17023	0.0409	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.16247	-1.0409	9	0.54805	T	0.06	.	1.8052	0.03079	0.5735:0.1696:0.0932:0.1637	.	253	Q8NGB4	OR4S1_HUMAN	V	253	ENSP00000321447:M253V	ENSP00000321447:M253V	M	+	1	0	OR4S1	48285107	0.000000	0.05858	0.335000	0.25508	0.834000	0.47266	-0.673000	0.05239	0.872000	0.35775	0.533000	0.62120	ATG		0.488	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		26	69	0	0	0	0.005443	0	26	69				
OR4C46	119749	broad.mit.edu	37	11	51515622	51515622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:51515622C>A	ENST00000328188.1	+	1	341	c.341C>A	c.(340-342)aCt>aAt	p.T114N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T114N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATCCTACTTACTGTGATGGCC	0.478																																							uc010ric.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)ACT>AAT		olfactory receptor, family 4, subfamily C,							154.0	149.0	150.0					11																	51515622		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515622C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.341C>A	11.37:g.51515622C>A	ENSP00000329056:p.Thr114Asn						p.T114N	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	341	+			114			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.341C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	7.758	0.704704	0.15172	.	.	ENSG00000185926	ENST00000328188	T	0.00912	5.55	2.63	0.65	0.17812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.03608	0.0103	M	0.93150	3.385	0.09310	N	1	P	0.52842	0.956	P	0.50970	0.655	T	0.18178	-1.0345	10	0.87932	D	0	.	6.3464	0.21351	0.0:0.7265:0.0:0.2735	.	114	A6NHA9	O4C46_HUMAN	N	114	ENSP00000329056:T114N	ENSP00000329056:T114N	T	+	2	0	OR4C46	51372198	0.000000	0.05858	0.163000	0.22734	0.017000	0.09413	0.595000	0.24029	0.050000	0.15949	0.134000	0.15878	ACT		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		31	67	1	0	9.78306e-22	0.009535	1.4053e-21	31	67				
OR4C15	81309	broad.mit.edu	37	11	55322326	55322326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55322326C>G	ENST00000314644.2	+	1	544	c.544C>G	c.(544-546)Ccc>Gcc	p.P182A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATTTGCAAGCCCTTGCATTA	0.498										HNSCC(20;0.049)																													uc010rig.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(544-546)CCC>GCC		olfactory receptor, family 4, subfamily C,							116.0	106.0	109.0					11																	55322326		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322326C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.544C>G	11.37:g.55322326C>G	ENSP00000324958:p.Pro182Ala	HNSCC(20;0.049)					p.P182A	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	544	+			128			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.544C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129564	0.77549	.	.	ENSG00000181939	ENST00000314644	T	0.01838	4.61	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25005	0.0607	H	0.98370	4.215	0.43588	D	0.99593	D	0.89917	1.0	D	0.91635	0.999	T	0.45352	-0.9267	9	0.87932	D	0	.	16.0842	0.81025	0.0:1.0:0.0:0.0	.	128	Q8NGM1	OR4CF_HUMAN	A	182	ENSP00000324958:P182A	ENSP00000324958:P182A	P	+	1	0	OR4C15	55078902	0.996000	0.38824	1.000000	0.80357	0.791000	0.44710	5.072000	0.64389	2.665000	0.90641	0.385000	0.25706	CCC		0.498	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		22	48	0	0	0	0.012319	0	22	48				
OR4C6	219432	broad.mit.edu	37	11	55433434	55433434	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55433434C>T	ENST00000314259.3	+	1	821	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P264P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACTCACCCCATAGACAAGG	0.483																																							uc001nht.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(790-792)CCC>CCT		olfactory receptor, family 4, subfamily C,							105.0	103.0	104.0					11																	55433434		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433434C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.792C>T	11.37:g.55433434C>T						OR4C6_uc010rik.1_Silent_p.P264P	p.P264P	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1057	+			264			Extracellular (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.792C>T	CCDS31506.1																																																																																				0.483	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		19	50	0	0	0	0.007413	0	19	50				
OR5L1	219437	broad.mit.edu	37	11	55579618	55579618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55579618C>A	ENST00000333973.2	+	1	765	c.676C>A	c.(676-678)Ctg>Atg	p.L226M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L226M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCACCATCCTGAAGATGGG	0.502																																							uc001nhw.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(676-678)CTG>ATG		olfactory receptor, family 5, subfamily L,							192.0	158.0	169.0					11																	55579618		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579618C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.676C>A	11.37:g.55579618C>A	ENSP00000335529:p.Leu226Met						p.L226M	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	676	+		all_epithelial(135;0.208)	226			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.676C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	17.12	3.307430	0.60305	.	.	ENSG00000186117	ENST00000333973	T	0.00309	8.16	4.12	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	0.175895	0.27491	N	0.019127	T	0.00440	0.0014	M	0.76328	2.33	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.50004	-0.8878	10	0.56958	D	0.05	-14.6796	4.9837	0.14180	0.276:0.5529:0.0:0.1711	.	226	Q8NGL2	OR5L1_HUMAN	M	226	ENSP00000335529:L226M	ENSP00000335529:L226M	L	+	1	2	OR5L1	55336194	0.000000	0.05858	0.004000	0.12327	0.787000	0.44495	-0.245000	0.08890	-0.199000	0.10317	0.428000	0.28381	CTG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		14	49	1	0	1.05317e-09	0.00245	1.27065e-09	14	49				
OR5I1	10798	broad.mit.edu	37	11	55703699	55703699	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55703699G>C	ENST00000301532.3	-	1	177	c.178C>G	c.(178-180)Ccc>Gcc	p.P60A		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	60					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATACATGGGGGTTTGAAGG	0.393																																							uc010ris.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)CCC>GCC		olfactory receptor, family 5, subfamily I,							62.0	63.0	63.0					11																	55703699		2199	4296	6495	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703699G>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.178C>G	11.37:g.55703699G>C	ENSP00000301532:p.Pro60Ala						p.P60A	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	178	-			60			Helical; Name=2; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.178C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893307	0.72524	.	.	ENSG00000167825	ENST00000301532	T	0.02015	4.5	5.05	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.145674	0.32134	N	0.006534	T	0.14056	0.0340	M	0.89214	3.015	0.34357	D	0.69051	D	0.76494	0.999	D	0.80764	0.994	T	0.18178	-1.0345	10	0.87932	D	0	.	11.5349	0.50631	0.0883:0.0:0.9117:0.0	.	60	Q13606	OR5I1_HUMAN	A	60	ENSP00000301532:P60A	ENSP00000301532:P60A	P	-	1	0	OR5I1	55460275	1.000000	0.71417	0.906000	0.35671	0.964000	0.63967	4.184000	0.58323	1.256000	0.44068	0.637000	0.83480	CCC		0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	27	0	0	0	0.008291	0	11	27				
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55872708C>T	ENST00000313503.1	+	1	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L64F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.423										HNSCC(53;0.14)																													uc010riy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(190-192)CTT>TTT		olfactory receptor, family 8, subfamily H,							237.0	222.0	227.0					11																	55872708		2201	4292	6493	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872708C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.190C>T	11.37:g.55872708C>T	ENSP00000323982:p.Leu64Phe	HNSCC(53;0.14)					p.L64F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	190	+	Esophageal squamous(21;0.00693)		64			Helical; Name=2; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.190C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	16.62	3.174497	0.57692	.	.	ENSG00000181767	ENST00000313503	T	0.14391	2.51	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.57932	0.2087	H	0.99425	4.56	0.38509	D	0.948433	D	0.89917	1.0	D	0.97110	1.0	T	0.81424	-0.0939	10	0.87932	D	0	.	16.1516	0.81626	0.0:1.0:0.0:0.0	.	64	Q8N162	OR8H2_HUMAN	F	64	ENSP00000323982:L64F	ENSP00000323982:L64F	L	+	1	0	OR8H2	55629284	0.957000	0.32711	0.997000	0.53966	0.555000	0.35460	0.698000	0.25571	1.952000	0.56665	0.440000	0.28878	CTT		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		36	141	0	0	0	0.010771	0	36	141				
OR8H3	390152	broad.mit.edu	37	11	55890038	55890038	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55890038C>T	ENST00000313472.3	+	1	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L64F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.433																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(190-192)CTT>TTT		olfactory receptor, family 8, subfamily H,							245.0	247.0	246.0					11																	55890038		2201	4293	6494	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890038C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.190C>T	11.37:g.55890038C>T	ENSP00000323928:p.Leu64Phe						p.L64F	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	190	+	Esophageal squamous(21;0.00693)		64			Helical; Name=2; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.190C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495941	0.26774	.	.	ENSG00000181761	ENST00000313472	T	0.14391	2.51	3.44	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.51075	0.1653	H	0.99425	4.56	0.28474	N	0.915277	D	0.89917	1.0	D	0.97110	1.0	T	0.55153	-0.8185	10	0.87932	D	0	.	6.6112	0.22753	0.1785:0.7212:0.0:0.1003	.	64	Q8N146	OR8H3_HUMAN	F	64	ENSP00000323928:L64F	ENSP00000323928:L64F	L	+	1	0	OR8H3	55646614	0.825000	0.29262	0.998000	0.56505	0.085000	0.17905	0.028000	0.13644	1.621000	0.50320	0.173000	0.16961	CTT		0.433	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		13	220	0	0	0	0.014323	0	13	220				
OR8J3	81168	broad.mit.edu	37	11	55904959	55904960	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:55904959_55904960GG>TT	ENST00000301529.1	-	1	234_235	c.235_236CC>AA	c.(235-237)CCt>AAt	p.P79N		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGCATTTTAGGGGCAATGACA	0.416																																							uc010riz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(235-237)CCT>AAT		olfactory receptor, family 8, subfamily J,																																				SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904959_55904960GG>TT		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.235_236delinsTT	11.37:g.55904959_55904960delinsTT	ENSP00000301529:p.Pro79Asn						p.P79N	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	235_236	-	Esophageal squamous(21;0.00693)		79			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	DNP	ENST00000301529.1	37	c.235_236CC>AA	CCDS31520.1																																																																																				0.416	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		27	50	0	0	0	0.004672	0	27	50				
OR9G1	390174	broad.mit.edu	37	11	56468369	56468369	+	Missense_Mutation	SNP	G	G	T	rs202014060		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:56468369G>T	ENST00000312153.1	+	1	506	c.506G>T	c.(505-507)cGt>cTt	p.R169L		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	169			R -> C (in dbSNP:rs11228733).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R169L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AACTTCTGCCGTGAAAACATC	0.428																																							uc010rjn.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(505-507)TGT>TTT		olfactory receptor, family 9, subfamily G,							149.0	146.0	147.0					11																	56468369		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468369G>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.506G>T	11.37:g.56468369G>T	ENSP00000309012:p.Arg169Leu						p.C169F	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	506	+			169			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.506G>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	6.403	0.442415	0.12164	.	.	ENSG00000174914	ENST00000312153	T	0.36878	1.23	4.52	-2.91	0.05631	GPCR, rhodopsin-like superfamily (1);	1.857160	0.02459	N	0.086381	T	0.41926	0.1180	L	0.49126	1.545	0.09310	N	1	B	0.18741	0.03	B	0.32762	0.152	T	0.52719	-0.8538	10	0.52906	T	0.07	0.8926	14.9069	0.70727	0.2659:0.0:0.7341:0.0	.	169	Q8NH87	OR9G1_HUMAN	L	169	ENSP00000309012:R169L	ENSP00000309012:R169L	R	+	2	0	OR9G1	56224945	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.570000	0.05895	-0.778000	0.04566	-1.341000	0.01249	CGT		0.428	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		9	63	1	0	1.12685e-05	0.004482	1.23621e-05	9	63				
MS4A12	54860	broad.mit.edu	37	11	60268517	60268517	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:60268517G>T	ENST00000016913.4	+	3	333		c.e3-1		MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TCTTTTTTCAGGTGATCCAGA	0.353																																							uc001npr.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		membrane-spanning 4-domains, subfamily A, member							250.0	250.0	250.0					11																	60268517		2203	4300	6503	SO:0001630	splice_region_variant	54860					integral to membrane	receptor activity	g.chr11:60268517G>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.277-1G>T	11.37:g.60268517G>T							p.V93_splice	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			3	334	+								F5GX98|Q8N6L4	Splice_Site	SNP	ENST00000016913.4	37	c.277_splice	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240236	0.39598	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0807	0.64919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A12	60025093	1.000000	0.71417	0.984000	0.44739	0.497000	0.33675	4.730000	0.62015	2.375000	0.81037	0.462000	0.41574	.		0.353	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1		Intron	40	116	1	0	4.32679e-17	0.006999	5.92087e-17	40	116				
CDC42BPG	55561	broad.mit.edu	37	11	64604410	64604410	+	Silent	SNP	C	C	T	rs147432161		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:64604410C>T	ENST00000342711.5	-	10	1286	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.L429L(1)		central_nervous_system(1)|lung(3)	4						GCTTCCTGCTCAGCTCCACCT	0.662																																							uc001obs.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(1285-1287)CTG>CTA		CDC42 binding protein kinase gamma (DMPK-like)		C		1,4401	2.1+/-5.4	0,1,2200	63.0	64.0	64.0		1287	3.7	0.9	11	dbSNP_134	64	0,8594		0,0,4297	no	coding-synonymous	CDC42BPG	NM_017525.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		429/1552	64604410	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64604410C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1287G>A	11.37:g.64604410C>T							p.L429L	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			10	1287	-			429			Potential.			Silent	SNP	ENST00000342711.5	37	c.1287G>A	CCDS31601.1																																																																																				0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		9	61	0	0	0	0.008291	0	9	61				
PCNXL3	399909	broad.mit.edu	37	11	65386199	65386199	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:65386199G>A	ENST00000355703.3	+	6	1905	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	456	Ser-rich.					integral component of membrane (GO:0016021)		p.E337K(2)|p.E456K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTACTCCCCTGAGAGCTCCCG	0.657																																							uc001oey.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1366-1368)GAG>AAG		pecanex-like 3							32.0	32.0	32.0					11																	65386199		1878	4100	5978	SO:0001583	missense	399909					integral to membrane		g.chr11:65386199G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1366G>A	11.37:g.65386199G>A	ENSP00000347931:p.Glu456Lys						p.E456K	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			6	1366	+			456			Ser-rich.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.1366G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516299	0.85495	.	.	ENSG00000197136	ENST00000355703	T	0.00824	5.65	5.23	4.32	0.51571	.	0.000000	0.39985	N	0.001211	T	0.02083	0.0065	L	0.29908	0.895	0.29892	N	0.825146	P	0.52842	0.956	P	0.62184	0.899	T	0.43458	-0.9390	10	0.42905	T	0.14	.	9.8226	0.40891	0.0945:0.0:0.9055:0.0	.	456	Q9H6A9	PCX3_HUMAN	K	456	ENSP00000347931:E456K	ENSP00000347931:E456K	E	+	1	0	PCNXL3	65142775	1.000000	0.71417	0.862000	0.33874	0.995000	0.86356	4.130000	0.57964	1.221000	0.43506	0.561000	0.74099	GAG		0.657	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	27	0	0	0	0.004672	0	3	27				
EFEMP2	30008	broad.mit.edu	37	11	65635480	65635480	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:65635480G>A	ENST00000307998.6	-	10	1252	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.S341L	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	341					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.S341L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAATGGATGAAGGCTGCTC	0.622																																							uc001ofy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)TCA>TTA		EGF-containing fibulin-like extracellular matrix							93.0	84.0	87.0					11																	65635480		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635480G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1022C>T	11.37:g.65635480G>A	ENSP00000309953:p.Ser341Leu					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.S341L	p.S341L	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1216	-			341					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1022C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182325	0.21870	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	T;D;T	0.81908	-1.49;-1.55;-1.48	5.37	5.37	0.77165	.	0.000000	0.45867	D	0.000339	T	0.75481	0.3855	N	0.19112	0.55	0.30134	N	0.804559	D;B	0.59357	0.985;0.063	P;B	0.50537	0.643;0.026	T	0.69079	-0.5240	10	0.11485	T	0.65	.	12.3397	0.55087	0.0:0.1704:0.8296:0.0	.	341;341	E9PRU1;O95967	.;FBLN4_HUMAN	L	57;341;341	ENSP00000436521:S57L;ENSP00000434151:S341L;ENSP00000309953:S341L	ENSP00000309953:S341L	S	-	2	0	EFEMP2	65392056	0.931000	0.31567	0.989000	0.46669	0.872000	0.50106	1.501000	0.35693	2.529000	0.85273	0.455000	0.32223	TCA		0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		4	68	0	0	0	0.000602	0	4	68				
EFEMP2	30008	broad.mit.edu	37	11	65635499	65635499	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:65635499G>C	ENST00000307998.6	-	10	1233	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.L335V	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	335					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.L335V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TCTCGACATAGAGGGTTGGAG	0.612																																							uc001ofy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1003-1005)CTA>GTA		EGF-containing fibulin-like extracellular matrix							74.0	68.0	70.0					11																	65635499		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635499G>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1003C>G	11.37:g.65635499G>C	ENSP00000309953:p.Leu335Val					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.L335V	p.L335V	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1197	-			335					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1003C>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154671	0.38021	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	T;D;T	0.81821	-1.49;-1.54;-1.47	5.37	4.43	0.53597	.	0.000000	0.41605	D	0.000854	T	0.66607	0.2806	N	0.24115	0.695	0.32075	N	0.593962	P;B	0.42039	0.769;0.035	B;B	0.37550	0.253;0.027	T	0.68554	-0.5378	10	0.17832	T	0.49	.	13.6919	0.62550	0.0:0.1562:0.8438:0.0	.	335;335	E9PRU1;O95967	.;FBLN4_HUMAN	V	51;335;335	ENSP00000436521:L51V;ENSP00000434151:L335V;ENSP00000309953:L335V	ENSP00000309953:L335V	L	-	1	2	EFEMP2	65392075	0.996000	0.38824	1.000000	0.80357	0.835000	0.47333	3.598000	0.54038	1.226000	0.43582	0.455000	0.32223	CTA		0.612	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	49	0	0	0	0.004672	0	3	49				
CNIH2	254263	broad.mit.edu	37	11	66049783	66049783	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:66049783G>C	ENST00000311445.6	+	2	393	c.135G>C	c.(133-135)ggG>ggC	p.G45G	CNIH2_ENST00000528852.1_Silent_p.G45G|YIF1A_ENST00000526497.1_5'Flank|CNIH2_ENST00000530519.1_3'UTR	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	45					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.G45G(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCGACCAGGGGAACCCTGCGC	0.617																																							uc001ohi.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)GGG>GGC		cornichon homolog 2							72.0	67.0	68.0					11																	66049783		2200	4295	6495	SO:0001819	synonymous_variant	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66049783G>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.135G>C	11.37:g.66049783G>C						CNIH2_uc001ohh.2_Silent_p.G45G|CNIH2_uc009yrb.1_RNA	p.G45G	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN			2	367	+			45			Lumenal (Potential).			Silent	SNP	ENST00000311445.6	37	c.135G>C	CCDS8131.1																																																																																				0.617	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		6	46	0	0	0	0.001168	0	6	46				
ACTN3	89	broad.mit.edu	37	11	66325509	66325509	+	lincRNA	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:66325509C>A	ENST00000504911.1	-	0	1160				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							ACATCGCCAACGCCTGGCGGG	0.612																																							uc001oio.1		NA																	0					0						c.(1138-1140)AAC>AAA		actinin, alpha 3							27.0	33.0	31.0					11																	66325509		2182	4285	6467			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66325509C>A																													11.37:g.66325509C>A						ACTN3_uc010rpi.1_RNA	p.N380K	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			11	1158	+			380			Spectrin 1.			Missense_Mutation	SNP	ENST00000504911.1	37	c.1140C>A																																																																																					0.612	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			11	10	1	0	5.50884e-06	0.013537	6.06906e-06	11	10				
CORO1B	57175	broad.mit.edu	37	11	67209219	67209219	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:67209219C>T	ENST00000341356.5	-	4	549	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	CORO1B_ENST00000545016.1_Missense_Mutation_p.V147M|CORO1B_ENST00000393893.1_Missense_Mutation_p.V147M|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000453768.2_Missense_Mutation_p.V147M	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	147					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.V147M(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTGAGCAGCACGTTTCGGGCC	0.672																																							uc001olj.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(439-441)GTG>ATG		coronin, actin binding protein, 1B							40.0	33.0	35.0					11																	67209219		2197	4294	6491	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209219C>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.439G>A	11.37:g.67209219C>T	ENSP00000340211:p.Val147Met					CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.V147M|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.V147M|CORO1B_uc010rps.1_Missense_Mutation_p.V147M|CORO1B_uc009yrv.1_Missense_Mutation_p.V147M	p.V147M	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	475	-			147			WD 2.		B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.439G>A	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213016	0.58452	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.6	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34507	N	0.003906	T	0.74450	0.3718	M	0.66939	2.045	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.988;0.968;0.992	T	0.78201	-0.2296	10	0.87932	D	0	-24.221	17.2104	0.86929	0.0:1.0:0.0:0.0	.	147;147;147	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	M	147;147;174;147;147	ENSP00000377471:V147M;ENSP00000340211:V147M;ENSP00000416006:V147M;ENSP00000438056:V147M	ENSP00000340211:V147M	V	-	1	0	CORO1B	66965795	1.000000	0.71417	0.959000	0.39883	0.157000	0.22087	4.716000	0.61916	2.361000	0.80049	0.563000	0.77884	GTG		0.672	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	24	0	0	0	0.001984	0	4	24				
C2CD3	26005	broad.mit.edu	37	11	73814377	73814377	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:73814377C>G	ENST00000334126.7	-	14	2605	c.2379G>C	c.(2377-2379)caG>caC	p.Q793H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q793H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	793					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.Q793H(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCCATTTGTCTGATTGACTA	0.463																																							uc001ouu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(2377-2379)CAG>CAC		C2 calcium-dependent domain containing 3							194.0	166.0	176.0					11																	73814377		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814377C>G	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2379G>C	11.37:g.73814377C>G	ENSP00000334379:p.Gln793His						p.Q793H	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			14	2606	-	Breast(11;4.16e-06)		793					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2379G>C		.	.	.	.	.	.	.	.	.	.	C	16.92	3.254444	0.59212	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11385	2.78;2.8	5.82	3.74	0.42951	.	0.588945	0.17891	N	0.158506	T	0.16557	0.0398	L	0.56769	1.78	0.09310	N	1	P	0.41569	0.755	P	0.44946	0.465	T	0.04065	-1.0980	10	0.66056	D	0.02	-0.8591	11.0908	0.48115	0.0:0.7765:0.0:0.2235	.	793	Q4AC94-1	.	H	793	ENSP00000334379:Q793H;ENSP00000323339:Q793H	ENSP00000323339:Q793H	Q	-	3	2	C2CD3	73492025	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	-0.042000	0.12063	0.646000	0.30693	0.655000	0.94253	CAG		0.463	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		21	65	0	0	0	0.012319	0	21	65				
GRM5	2915	broad.mit.edu	37	11	88386426	88386426	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:88386426G>T	ENST00000305447.4	-	3	1206	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	GRM5_ENST00000305432.5_Missense_Mutation_p.P353T|GRM5_ENST00000393297.1_Missense_Mutation_p.P353T|GRM5_ENST00000418177.2_Missense_Mutation_p.P353T|GRM5_ENST00000455756.2_Missense_Mutation_p.P353T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	353					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P353T(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGAAACCAAGGGTTTCGGTGG	0.448																																							uc001pcq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1057-1059)CCT>ACT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						90.0	91.0	90.0					11																	88386426		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386426G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1057C>A	11.37:g.88386426G>T	ENSP00000306138:p.Pro353Thr					GRM5_uc009yvm.2_Missense_Mutation_p.P353T	p.P353T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1257	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	353			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1057C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792313	0.90453	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92831	0.6280	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	353;353	P41594-2;P41594	.;GRM5_HUMAN	T	353	ENSP00000402912:P353T;ENSP00000405690:P353T;ENSP00000305905:P353T;ENSP00000306138:P353T;ENSP00000376975:P353T	.	P	-	1	0	GRM5	88026074	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CCT		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		27	41	1	0	4.7796e-09	0.004656	5.71355e-09	27	41				
NAALAD2	10003	broad.mit.edu	37	11	89896592	89896592	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:89896592G>T	ENST00000534061.1	+	10	1420	c.1190G>T	c.(1189-1191)aGt>aTt	p.S397I	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S364I|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S304I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	397	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.S397I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAACTGATGAGTAAAGGTAAA	0.423																																							uc001pdf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1189-1191)AGT>ATT		N-acetylated alpha-linked acidic dipeptidase 2							103.0	106.0	105.0					11																	89896592		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896592G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1190G>T	11.37:g.89896592G>T	ENSP00000432481:p.Ser397Ile					NAALAD2_uc009yvx.2_Missense_Mutation_p.S364I|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.S304I	p.S397I	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			10	1299	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	397			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1190G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983807	0.35036	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	T;T;T	0.39787	1.06;1.06;1.06	5.51	0.779	0.18550	Peptidase M28 (1);	0.690545	0.14613	N	0.308904	T	0.30355	0.0762	L	0.39514	1.22	0.09310	N	1	B;B	0.30193	0.112;0.272	B;B	0.34536	0.062;0.185	T	0.20075	-1.0286	9	.	.	.	-2.4064	5.4073	0.16328	0.3733:0.1533:0.4734:0.0	.	397;304	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	I	397;364;304	ENSP00000432481:S397I;ENSP00000320083:S364I;ENSP00000435249:S304I	.	S	+	2	0	NAALAD2	89536240	0.015000	0.18098	0.001000	0.08648	0.935000	0.57460	0.355000	0.20163	0.179000	0.19938	0.591000	0.81541	AGT		0.423	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		24	94	1	0	3.6726e-16	0.003954	4.9863e-16	24	94				
FAT3	120114	broad.mit.edu	37	11	92564916	92564916	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:92564916A>T	ENST00000298047.6	+	13	9627	c.9610A>T	c.(9610-9612)Agc>Tgc	p.S3204C	FAT3_ENST00000409404.2_Missense_Mutation_p.S3204C|FAT3_ENST00000525166.1_Missense_Mutation_p.S3054C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3204	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3204C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTACAACATCAGCGTGCGGGC	0.557										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(9610-9612)AGC>TGC		FAT tumor suppressor homolog 3							70.0	76.0	74.0					11																	92564916		2167	4268	6435	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92564916A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9610A>T	11.37:g.92564916A>T	ENSP00000298047:p.Ser3204Cys	TCGA Ovarian(4;0.039)					p.S3204C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			13	9627	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3204			Cadherin 29.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9610A>T		.	.	.	.	.	.	.	.	.	.	A	19.53	3.845149	0.71603	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01871	4.59;4.59;4.59	5.19	4.04	0.47022	.	.	.	.	.	T	0.04092	0.0114	L	0.52905	1.665	0.80722	D	1	P	0.44006	0.824	B	0.42625	0.393	T	0.43032	-0.9416	9	0.72032	D	0.01	.	12.4486	0.55666	0.8597:0.1403:0.0:0.0	.	3204	Q8TDW7-3	.	C	3204;3204;3054	ENSP00000298047:S3204C;ENSP00000387040:S3204C;ENSP00000432586:S3054C	ENSP00000298047:S3204C	S	+	1	0	FAT3	92204564	0.939000	0.31865	0.921000	0.36526	0.777000	0.43975	4.370000	0.59517	0.894000	0.36317	0.533000	0.62120	AGC		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	10	0	0	0	0.00308	0	7	10				
MMP27	64066	broad.mit.edu	37	11	102573542	102573542	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:102573542C>A	ENST00000260229.4	-	4	652	c.561G>T	c.(559-561)ccG>ccT	p.P187P		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	187					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P187P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CACCCAGACCCGGACCAGGAG	0.443																																							uc001phd.1		NA																	2	Substitution - coding silent(2)		lung(1)|central_nervous_system(1)	ovary(2)|skin(1)	3						c.(559-561)CCG>CCT		matrix metalloproteinase 27 precursor							84.0	88.0	86.0					11																	102573542		2203	4299	6502	SO:0001819	synonymous_variant	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102573542C>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.561G>T	11.37:g.102573542C>A							p.P187P	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	4	584	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	187					Q6UWK6	Silent	SNP	ENST00000260229.4	37	c.561G>T	CCDS8319.1																																																																																				0.443	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		18	78	1	0	9.16793e-09	0.00499	1.08348e-08	18	78				
DIXDC1	85458	broad.mit.edu	37	11	111864406	111864406	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:111864406G>T	ENST00000440460.2	+	15	1673	c.1376G>T	c.(1375-1377)cGa>cTa	p.R459L	DIXDC1_ENST00000315253.5_Missense_Mutation_p.R248L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	460					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.R459L(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATCTAGAGCGAGAGCTAGAA	0.463																																							uc001pml.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1378-1380)CGA>CTA		DIX domain containing 1 isoform a							89.0	85.0	86.0					11																	111864406		1932	4128	6060	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111864406G>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1376G>T	11.37:g.111864406G>T	ENSP00000394352:p.Arg459Leu					DIXDC1_uc001pmm.2_Missense_Mutation_p.R249L|DIXDC1_uc001pmn.2_Missense_Mutation_p.R166L|DIXDC1_uc010rwq.1_Missense_Mutation_p.R125L	p.R460L	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	15	1676	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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)	460					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1379G>T		.	.	.	.	.	.	.	.	.	.	G	23.6	4.436301	0.83885	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.23348	1.91;1.91	5.28	5.28	0.74379	.	0.338132	0.28290	N	0.015898	T	0.37210	0.0995	.	.	.	0.48511	D	0.999667	P;P;D	0.60160	0.914;0.788;0.987	B;B;P	0.50934	0.275;0.268;0.654	T	0.05886	-1.0858	9	0.42905	T	0.14	-40.1134	16.435	0.83872	0.0:0.0:1.0:0.0	.	125;248;460	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	L	459;248	ENSP00000394352:R459L;ENSP00000314068:R248L	ENSP00000314068:R248L	R	+	2	0	DIXDC1	111369616	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.514000	0.67043	2.622000	0.88805	0.650000	0.86243	CGA		0.463	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		13	24	1	0	1.3612e-06	0.003163	1.52549e-06	13	24				
HTR3A	3359	broad.mit.edu	37	11	113848528	113848528	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:113848528C>T	ENST00000504030.2	+	2	548	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.L41L|HTR3A_ENST00000355556.2_Silent_p.L41L|HTR3A_ENST00000299961.5_Silent_p.L20L|HTR3A_ENST00000506841.2_Silent_p.L35L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	35					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.L35L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCCCGCTCTGCTGAGGCTGTC	0.572																																							uc010rxb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)CTG>TTG		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						73.0	59.0	63.0					11																	113848528		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113848528C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.103C>T	11.37:g.113848528C>T						HTR3A_uc010rxa.1_Silent_p.L41L|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.L20L	p.L41L	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	2	354	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	35			Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.121C>T																																																																																					0.572	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		5	36	0	0	0	0.000602	0	5	36				
SPA17	53340	broad.mit.edu	37	11	124551353	124551353	+	Missense_Mutation	SNP	G	G	C	rs187798202	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:124551353G>C	ENST00000532692.1	+	2	1644	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	SPA17_ENST00000227135.2_Missense_Mutation_p.E75Q|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	75					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)		p.E75Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCATGCATTCGAGGTATGGTC	0.378																																							uc001qap.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAG>CAG		sperm autoantigenic protein 17							107.0	101.0	103.0					11																	124551353		2201	4299	6500	SO:0001583	missense	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124551353G>C	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.223G>C	11.37:g.124551353G>C	ENSP00000432305:p.Glu75Gln						p.E75Q	NM_017425	NP_059121	Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	3	359	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	75					B2R4F2|Q9BXF7	Missense_Mutation	SNP	ENST00000532692.1	37	c.223G>C	CCDS8450.1	.	.	.	.	.	.	.	.	.	.	G	8.551	0.875437	0.17395	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	5.81	0.645	0.17782	.	0.379200	0.24806	N	0.035459	T	0.07369	0.0186	N	0.00413	-1.525	0.23496	N	0.997552	B	0.11235	0.004	B	0.08055	0.003	T	0.38929	-0.9638	9	0.15499	T	0.54	-5.2384	10.0046	0.41949	0.364:0.5639:0.0721:0.0	.	75	Q15506	SP17_HUMAN	Q	75	.	ENSP00000227135:E75Q	E	+	1	0	SPA17	124056563	0.997000	0.39634	0.997000	0.53966	0.619000	0.37552	0.452000	0.21795	-0.131000	0.11578	-0.484000	0.04775	GAG		0.378	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		6	37	0	0	0	0.004482	0	6	37				
GLB1L3	112937	broad.mit.edu	37	11	134180979	134180979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr11:134180979C>A	ENST00000431683.2	+	13	1202	c.1202C>A	c.(1201-1203)cCc>cAc	p.P401H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	401					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.P62H(1)|p.P401H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCGAGTACCCAAACTTCCT	0.597																																							uc009zdf.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1201-1203)CCC>CAC		galactosidase, beta 1 like 3							179.0	186.0	184.0					11																	134180979		2028	4172	6200	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134180979C>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1202C>A	11.37:g.134180979C>A	ENSP00000396615:p.Pro401His					GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	p.P401H	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1562	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	401					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1202C>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866394	0.51588	.	.	ENSG00000166105	ENST00000431683	D	0.98192	-4.78	4.87	3.95	0.45737	.	0.057812	0.64402	D	0.000001	D	0.99155	0.9708	H	0.96333	3.805	0.18873	N	0.999981	D	0.89917	1.0	D	0.79784	0.993	D	0.95675	0.8727	10	0.87932	D	0	.	10.702	0.45933	0.1904:0.8096:0.0:0.0	.	401	Q8NCI6	GLBL3_HUMAN	H	401	ENSP00000396615:P401H	ENSP00000396615:P401H	P	+	2	0	GLB1L3	133686189	0.487000	0.25988	0.015000	0.15790	0.009000	0.06853	3.968000	0.56809	1.384000	0.46424	0.455000	0.32223	CCC		0.597	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		44	150	1	0	1.56793e-16	0.01441	2.13995e-16	44	150				
KDM5A	5927	broad.mit.edu	37	12	493250	493250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:493250G>C	ENST00000399788.2	-	3	675	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L105V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	105	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L105V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGGATCTTCAGAGTAGATCCT	0.383			T	NUP98	AML																																		uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(313-315)CTG>GTG		retinoblastoma binding protein 2 isoform 1							125.0	121.0	122.0					12																	493250		1821	4082	5903	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:493250G>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.313C>G	12.37:g.493250G>C	ENSP00000382688:p.Leu105Val					KDM5A_uc001qie.1_Missense_Mutation_p.L105V|KDM5A_uc010sdn.1_Intron|KDM5A_uc010sdo.1_Intron	p.L105V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			3	676	-			105			ARID.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.313C>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625123	0.66901	.	.	ENSG00000073614	ENST00000399788;ENST00000382815;ENST00000536014;ENST00000543507	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.38	-5.08	0.02929	ARID/BRIGHT DNA-binding domain (5);	0.300406	0.27782	N	0.017865	T	0.62901	0.2466	M	0.69523	2.12	0.34643	D	0.720873	B;B	0.31241	0.027;0.315	B;B	0.38616	0.1;0.277	T	0.65063	-0.6259	10	0.87932	D	0	-8.5892	17.7465	0.88422	0.2844:0.0:0.7156:0.0	.	105;105	P29375;P29375-2	KDM5A_HUMAN;.	V	105;105;86;114	ENSP00000382688:L105V;ENSP00000372265:L105V;ENSP00000438203:L86V;ENSP00000444251:L114V	ENSP00000372265:L105V	L	-	1	2	KDM5A	363511	0.965000	0.33210	0.539000	0.28077	0.991000	0.79684	0.568000	0.23623	-1.000000	0.03438	-0.484000	0.04775	CTG		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		33	87	0	0	0	0.012213	0	33	87				
CHD4	1108	broad.mit.edu	37	12	6707449	6707449	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:6707449T>G	ENST00000357008.2	-	11	1788	c.1625A>C	c.(1624-1626)cAg>cCg	p.Q542P	CHD4_ENST00000544040.1_Missense_Mutation_p.Q535P|CHD4_ENST00000544484.1_Missense_Mutation_p.Q539P|CHD4_ENST00000309577.6_Missense_Mutation_p.Q542P	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	542	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.Q542P(2)		central_nervous_system(2)	2						CACAAAGAACTGCCGCTCTGG	0.572																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(1624-1626)CAG>CCG		chromodomain helicase DNA binding protein 4							116.0	122.0	120.0					12																	6707449		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707449T>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1625A>C	12.37:g.6707449T>G	ENSP00000349508:p.Gln542Pro					CHD4_uc001qpn.2_Missense_Mutation_p.Q535P|CHD4_uc001qpp.2_Missense_Mutation_p.Q539P	p.Q542P	NM_001273	NP_001264	Q14839	CHD4_HUMAN			11	1789	-			542			Chromo 1.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1625A>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870913	0.51695	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	3.87	3.87	0.44632	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.062982	0.64402	D	0.000004	T	0.69895	0.3162	N	0.22421	0.69	0.50313	D	0.999865	P;P;P	0.37864	0.61;0.484;0.531	B;P;B	0.47626	0.275;0.552;0.099	T	0.74805	-0.3540	10	0.87932	D	0	27.6225	13.1473	0.59470	0.0:0.0:0.0:1.0	.	542;542;535	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	P	539;535;542;542;516	ENSP00000440392:Q539P;ENSP00000440542:Q535P;ENSP00000312419:Q542P;ENSP00000349508:Q542P	ENSP00000312419:Q542P	Q	-	2	0	CHD4	6577710	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.841000	0.86834	1.749000	0.51849	0.260000	0.18958	CAG		0.572	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		52	91	0	0	0	0.01441	0	52	91				
PRB3	5544	broad.mit.edu	37	12	11420885	11420885	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:11420885C>G	ENST00000279573.7	-	3	433	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	PRB3_ENST00000538488.1_Missense_Mutation_p.E100Q|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.E100Q			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	100	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.E100Q(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGTTGTCCTTCTGGCTTTCCC	0.627																																							uc001qzs.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(298-300)GAA>CAA		proline-rich protein BstNI subfamily 3							152.0	187.0	175.0					12																	11420885		2057	4217	6274	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420885C>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.298G>C	12.37:g.11420885C>G	ENSP00000279573:p.Glu100Gln					PRB4_uc001qzf.1_Intron	p.E100Q	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	336	-			100			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.298G>C		.	.	.	.	.	.	.	.	.	.	.	0.020	-1.432559	0.01108	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.03580	3.88;3.88	0.704	-1.41	0.08941	.	1.448910	0.05547	N	0.566748	T	0.02083	0.0065	.	.	.	0.09310	N	1	B	0.26845	0.161	B	0.14023	0.01	T	0.47045	-0.9147	9	0.17369	T	0.5	.	3.8859	0.09097	0.2159:0.4827:0.3014:0.0	.	100	Q04118	PRB3_HUMAN	Q	100	ENSP00000371264:E100Q;ENSP00000442626:E100Q	ENSP00000279573:E100Q	E	-	1	0	PRB3	11312152	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.576000	0.05854	-1.094000	0.03054	0.134000	0.15878	GAA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		8	374	0	0	0	0.004482	0	8	374				
ETV6	2120	broad.mit.edu	37	12	12022455	12022455	+	Silent	SNP	G	G	C	rs375865123		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:12022455G>C	ENST00000396373.4	+	5	835	c.561G>C	c.(559-561)acG>acC	p.T187T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	187					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T187T(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CACCTATCACGACAAATCACC	0.617			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																		uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(559-561)ACG>ACC		ets variant 6							181.0	192.0	188.0					12																	12022455		2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022455G>C	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.561G>C	12.37:g.12022455G>C						ETV6_uc001raa.1_5'UTR	p.T187T	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	835	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	187					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.561G>C	CCDS8643.1																																																																																				0.617	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		58	171	0	0	0	0.01441	0	58	171				
SOX5	6660	broad.mit.edu	37	12	23999001	23999001	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:23999001C>T	ENST00000451604.2	-	3	498	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	SOX5_ENST00000381381.2_Missense_Mutation_p.E120K|SOX5_ENST00000309359.1_Missense_Mutation_p.E120K|SOX5_ENST00000545921.1_Missense_Mutation_p.E123K|SOX5_ENST00000541847.1_Missense_Mutation_p.E123K|SOX5_ENST00000441133.2_Missense_Mutation_p.E98K|SOX5_ENST00000537393.1_Missense_Mutation_p.E98K|SOX5_ENST00000546136.1_Missense_Mutation_p.E120K|SOX5_ENST00000541536.1_Missense_Mutation_p.E120K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	133					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E133K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGCGCCGTTCAGGAGTTCCC	0.517																																							uc001rfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)	6						c.(397-399)GAA>AAA		SRY (sex determining region Y)-box 5 isoform a							137.0	124.0	128.0					12																	23999001		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999001C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.397G>A	12.37:g.23999001C>T	ENSP00000398273:p.Glu133Lys					SOX5_uc001rfx.2_Missense_Mutation_p.E120K|SOX5_uc001rfy.2_Missense_Mutation_p.E120K|SOX5_uc010siv.1_Missense_Mutation_p.E120K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E85K|SOX5_uc001rga.2_Missense_Mutation_p.E98K	p.E133K	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	499	-			133					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.397G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966635	0.97156	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97850	-4.54;-4.54;-4.57;-4.55;-4.53;-4.57;-4.54	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.974;1.0	D;D;D;D	0.87578	0.994;0.998;0.953;0.998	D	0.99509	1.0955	10	0.66056	D	0.02	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	98;98;120;133	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	K	120;120;120;133;85;98;120;123;123;98;120	ENSP00000437487:E120K;ENSP00000308927:E120K;ENSP00000370788:E120K;ENSP00000398273:E133K;ENSP00000439832:E98K;ENSP00000441973:E120K;ENSP00000443520:E123K	ENSP00000308927:E120K	E	-	1	0	SOX5	23890268	1.000000	0.71417	0.686000	0.30086	0.990000	0.78478	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	GAA		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		24	71	0	0	0	0.00333	0	24	71				
PUS7L	83448	broad.mit.edu	37	12	44148624	44148624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:44148624C>A	ENST00000416848.2	-	2	913	c.425G>T	c.(424-426)tGt>tTt	p.C142F	PUS7L_ENST00000344862.5_Missense_Mutation_p.C142F|PUS7L_ENST00000553166.1_Missense_Mutation_p.C142F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.C142F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	142					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.C142F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTTACATCACAGGCAAAATT	0.368																																							uc001rnq.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(424-426)TGT>TTT		pseudouridylate synthase 7 homolog (S.							98.0	97.0	97.0					12																	44148624		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148624C>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.425G>T	12.37:g.44148624C>A	ENSP00000415899:p.Cys142Phe					PUS7L_uc001rnr.3_Missense_Mutation_p.C142F|PUS7L_uc001rns.3_Missense_Mutation_p.C142F|PUS7L_uc009zkb.2_Intron	p.C142F	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	914	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	142					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.425G>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298319	0.01364	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.22743	2.0;2.0;2.0;1.94	5.26	-0.115	0.13560	Pseudouridine synthase, catalytic domain (1);	0.857663	0.10913	N	0.620282	T	0.11024	0.0269	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40997	-0.9533	10	0.10111	T	0.7	1.322	5.4587	0.16604	0.3601:0.4484:0.0:0.1915	.	142	Q9H0K6	PUS7L_HUMAN	F	142	ENSP00000415899:C142F;ENSP00000343081:C142F;ENSP00000447706:C142F;ENSP00000446865:C142F	ENSP00000343081:C142F	C	-	2	0	PUS7L	42434891	0.000000	0.05858	0.002000	0.10522	0.374000	0.29953	0.218000	0.17622	-0.116000	0.11893	0.591000	0.81541	TGT		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		48	15	1	0	2.13384e-23	0.01441	3.13445e-23	48	15				
AGAP2	116986	broad.mit.edu	37	12	58121198	58121198	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:58121198G>T	ENST00000547588.1	-	17	3024	c.3025C>A	c.(3025-3027)Cgc>Agc	p.R1009S	AGAP2_ENST00000257897.3_Missense_Mutation_p.R653S|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2-AS1_ENST00000542466.2_Silent_p.A141A	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1009	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R1009S(1)|p.R653S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACACGCGGTTGGCCGTG	0.672																																							uc001spq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(3025-3027)CGC>AGC		centaurin, gamma 1 isoform PIKE-L							61.0	50.0	53.0					12																	58121198		2203	4299	6502	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121198G>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.3025C>A	12.37:g.58121198G>T	ENSP00000449241:p.Arg1009Ser					AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1008S|AGAP2_uc001spr.2_Missense_Mutation_p.R653S|LOC100130776_uc001sps.3_Silent_p.A141A	p.R1009S	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			17	3025	-			1009			Arf-GAP.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.3025C>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.00|10.00	1.233319|1.233319	0.22626|0.22626	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.41065	.|1.01;1.01	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	.|0.269566	.|0.41823	.|N	.|0.000819	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.00465|0.00465	-1.465|-1.465	0.32541|0.32541	N|N	0.5337|0.5337	.|B;B;B	.|0.26120	.|0.0;0.117;0.142	.|B;B;B	.|0.12156	.|0.003;0.004;0.007	T|T	0.29610|0.29610	-1.0006|-1.0006	5|10	.|0.02654	.|T	.|1	.|.	11.4729|11.4729	0.50280|0.50280	0.0:0.0:0.5534:0.4466|0.0:0.0:0.5534:0.4466	.|.	.|653;1009;1009	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	Q|S	852|653;1009	.|ENSP00000257897:R653S;ENSP00000449241:R1009S	.|ENSP00000257897:R653S	P|R	-|-	2|1	0|0	AGAP2|AGAP2	56407465|56407465	0.672000|0.672000	0.27530|0.27530	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	-0.115000|-0.115000	0.10741|0.10741	1.210000|1.210000	0.43336|0.43336	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.672	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		6	8	1	0	2.0095e-06	0.001984	2.24236e-06	6	8				
USP15	9958	broad.mit.edu	37	12	62783402	62783402	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:62783402A>T	ENST00000280377.5	+	13	1633	c.1575A>T	c.(1573-1575)atA>atT	p.I525I	USP15_ENST00000353364.3_Silent_p.I496I|USP15_ENST00000393654.3_Silent_p.I500I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	525	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I496I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTACTGATATATACAATCATA	0.313																																					Melanoma(181;615 2041 39364 49691 50001)	Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1573-1575)ATA>ATT		ubiquitin specific peptidase 15							85.0	96.0	92.0					12																	62783402		2203	4299	6502	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62783402A>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1575A>T	12.37:g.62783402A>T						USP15_uc001srb.1_Silent_p.I496I	p.I525I	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	13	1584	+			525					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1575A>T	CCDS58251.1																																																																																				0.313	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		42	54	0	0	0	0.009718	0	42	54				
TMCC3	57458	broad.mit.edu	37	12	94975550	94975550	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:94975550C>A	ENST00000261226.4	-	2	974	c.843G>T	c.(841-843)ctG>ctT	p.L281L	TMCC3_ENST00000551457.1_Silent_p.L250L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	281						integral component of membrane (GO:0016021)		p.L281L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTGGCTGTCCAGTGTGCTGG	0.577																																							uc001tdj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(841-843)CTG>CTT		transmembrane and coiled-coil domain family 3							96.0	94.0	95.0					12																	94975550		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94975550C>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.843G>T	12.37:g.94975550C>A						TMCC3_uc001tdi.2_Silent_p.L250L	p.L281L	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	961	-			281					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.843G>T	CCDS31877.1																																																																																				0.577	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		24	23	1	0	3.28513e-13	0.003954	4.32472e-13	24	23				
HECTD4	283450	broad.mit.edu	37	12	112622620	112622620	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:112622620C>T	ENST00000430131.2	-	60	10029	c.8884G>A	c.(8884-8886)Gat>Aat	p.D2962N	HECTD4_ENST00000550722.1_Missense_Mutation_p.D3238N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3212N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2962					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D2962N(1)|p.D3212N(1)									TGGCAGGCATCGGCGATGGCG	0.682																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(8884-8886)GAT>AAT		chromosome 12 open reading frame 51							87.0	108.0	101.0					12																	112622620		2177	4264	6441	SO:0001583	missense	283450							g.chr12:112622620C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8884G>A	12.37:g.112622620C>T	ENSP00000404379:p.Asp2962Asn						p.D2962N	NM_001109662	NP_001103132					54	8902	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8884G>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.954690	0.92726	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.62788	0.01;0.03;-0.0	5.61	5.61	0.85477	.	.	.	.	.	T	0.71169	0.3308	L	0.29908	0.895	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	T	0.74054	-0.3788	9	0.87932	D	0	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	2962	Q9Y4D8	K0614_HUMAN	N	3212;2962;3238	ENSP00000366783:D3212N;ENSP00000404379:D2962N;ENSP00000449784:D3238N	ENSP00000366783:D3212N	D	-	1	0	C12orf51	111107003	1.000000	0.71417	0.877000	0.34402	0.640000	0.38277	7.065000	0.76727	2.643000	0.89663	0.650000	0.86243	GAT		0.682	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		44	45	0	0	0	0.011902	0	44	45				
RBM19	9904	broad.mit.edu	37	12	114385258	114385258	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:114385258C>T	ENST00000545145.2	-	11	1366	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RBM19_ENST00000392561.3_Missense_Mutation_p.E430K|RBM19_ENST00000261741.5_Missense_Mutation_p.E430K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	430	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E430K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGGAGCTCAGACAGGGGA	0.577																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1288-1290)GAG>AAG		RNA binding motif protein 19							111.0	95.0	101.0					12																	114385258		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114385258C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1288G>A	12.37:g.114385258C>T	ENSP00000442053:p.Glu430Lys					RBM19_uc001tvn.3_Missense_Mutation_p.E430K|RBM19_uc001tvm.2_Missense_Mutation_p.E430K	p.E430K	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			11	1432	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		430			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1288G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929194	0.92389	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.17370	2.28;2.28;2.28	5.15	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.01951	-1.1241	10	0.52906	T	0.07	-26.8776	14.0188	0.64541	0.0:0.9251:0.0:0.0748	.	430	Q9Y4C8	RBM19_HUMAN	K	430	ENSP00000442053:E430K;ENSP00000376344:E430K;ENSP00000261741:E430K	ENSP00000261741:E430K	E	-	1	0	RBM19	112869641	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	4.580000	0.60942	2.412000	0.81896	0.655000	0.94253	GAG		0.577	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		9	17	0	0	0	0.004482	0	9	17				
CAMKK2	10645	broad.mit.edu	37	12	121712118	121712118	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:121712118T>G	ENST00000324774.5	-	2	1040	c.212A>C	c.(211-213)gAc>gCc	p.D71A	CAMKK2_ENST00000404169.3_Missense_Mutation_p.D71A|CAMKK2_ENST00000392474.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000337174.3_Missense_Mutation_p.D71A|CAMKK2_ENST00000412367.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000538733.1_Missense_Mutation_p.D71A|CAMKK2_ENST00000347034.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392473.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000446440.2_Missense_Mutation_p.D71A|CAMKK2_ENST00000402834.4_Missense_Mutation_p.D71A	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	71					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.D71A(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGGGCCGGTCCCGCGCCAA	0.682																																							uc001tzu.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|large_intestine(1)|stomach(1)	3						c.(211-213)GAC>GCC		calcium/calmodulin-dependent protein kinase							24.0	26.0	25.0					12																	121712118		2202	4297	6499	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121712118T>G	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.212A>C	12.37:g.121712118T>G	ENSP00000312741:p.Asp71Ala					CAMKK2_uc001tzt.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzv.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzw.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzx.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzy.2_Missense_Mutation_p.D71A|CAMKK2_uc001uaa.1_Missense_Mutation_p.D71A|CAMKK2_uc001uab.2_Missense_Mutation_p.D71A|CAMKK2_uc001uac.2_Missense_Mutation_p.D71A|CAMKK2_uc001uad.1_Missense_Mutation_p.D71A	p.D71A	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			2	336	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		71					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.212A>C	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258412	0.39896	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.86;-0.85;-0.83;-0.84;-0.88;-0.84;-0.88;-0.85;-0.84;1.73;1.24	4.58	1.99	0.26369	.	0.099808	0.40818	N	0.001003	T	0.56108	0.1963	N	0.24115	0.695	0.29280	N	0.870072	B;B;B;B;B;B;B	0.09022	0.0;0.001;0.001;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.003;0.004;0.004;0.004;0.002;0.004	T	0.53457	-0.8436	10	0.66056	D	0.02	-0.0555	6.3358	0.21294	0.0:0.0864:0.1588:0.7548	.	71;71;71;71;71;71;71	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	A	71;71;71;71;71;71;71;54;71;71;71;71	ENSP00000376266:D71A;ENSP00000321230:D71A;ENSP00000445944:D71A;ENSP00000336634:D71A;ENSP00000312741:D71A;ENSP00000388368:D71A;ENSP00000384600:D71A;ENSP00000388273:D71A;ENSP00000376265:D71A;ENSP00000444894:D71A;ENSP00000445400:D71A	ENSP00000312741:D71A	D	-	2	0	CAMKK2	120196501	0.984000	0.35163	0.995000	0.50966	0.790000	0.44656	0.696000	0.25541	0.732000	0.32470	0.379000	0.24179	GAC		0.682	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		22	7	0	0	0	0.003954	0	22	7				
AACS	65985	broad.mit.edu	37	12	125618592	125618592	+	Silent	SNP	C	C	T	rs575536966		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:125618592C>T	ENST00000316519.6	+	15	1799	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	AACS_ENST00000261686.6_Silent_p.T531T|AACS_ENST00000316543.10_Silent_p.T129T|AACS_ENST00000545511.1_Missense_Mutation_p.P111L|AACS_ENST00000543665.1_Missense_Mutation_p.P31L	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	531					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.T531T(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCCCAAGACCGGGGGCATCG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18307	0.0		0.0	False		,,,				2504	0.0						uc001uhc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1591-1593)ACC>ACT		acetoacetyl-CoA synthetase							77.0	65.0	69.0					12																	125618592		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125618592C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1593C>T	12.37:g.125618592C>T						AACS_uc001uhd.2_Silent_p.T531T|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.T129T	p.T531T	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	15	1799	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		531					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.1593C>T	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.102|0.102	-1.150511|-1.150511	0.01700|0.01700	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000545511;ENST00000543665|ENST00000535001	.|.	.|.	.|.	5.75|5.75	-11.5|-11.5	0.00074|0.00074	.|.	.|.	.|.	.|.	.|.	T|T	0.49081|0.49081	0.1536|0.1536	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66736|0.66736	-0.5848|-0.5848	5|5	0.59425|0.72032	D|D	0.04|0.01	.|.	3.2523|3.2523	0.06819|0.06819	0.2957:0.1459:0.0702:0.4882|0.2957:0.1459:0.0702:0.4882	.|.	.|.	.|.	.|.	L|W	111;31|245	.|.	ENSP00000442007:P31L|ENSP00000441909:R245W	P|R	+|+	2|1	0|2	AACS|AACS	124184545|124184545	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.531000|0.531000	0.34715|0.34715	-6.173000|-6.173000	0.00077|0.00077	-3.640000|-3.640000	0.00128|0.00128	-2.069000|-2.069000	0.00389|0.00389	CCG|CGG		0.622	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		13	8	0	0	0	0.003163	0	13	8				
PGAM5	192111	broad.mit.edu	37	12	133291502	133291502	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr12:133291502G>C	ENST00000498926.2	+	2	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PXMP2_ENST00000545677.1_Missense_Mutation_p.R123T|PGAM5_ENST00000317555.2_Missense_Mutation_p.E84Q	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	84					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)	p.E84Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		TGGGGAAGAAGAGCTGGCGTC	0.537																																							uc009zyv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GAG>CAG		phosphoglycerate mutase family member 5							165.0	122.0	136.0					12																	133291502		2203	4300	6503	SO:0001583	missense	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133291502G>C	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.250G>C	12.37:g.133291502G>C	ENSP00000438465:p.Glu84Gln					PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.E84Q	p.E84Q	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	2	277	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		84					A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	c.250G>C	CCDS53845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.85|11.85	1.761353|1.761353	0.31228|0.31228	.|.	.|.	ENSG00000247077|ENSG00000176894	ENST00000317555;ENST00000498926|ENST00000545677	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.384560|.	0.30620|.	N|.	0.009238|.	T|T	0.73908|0.73908	0.3647|0.3647	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;D|.	0.53312|.	0.06;0.959|.	B;P|.	0.51193|.	0.027;0.662|.	T|T	0.78013|0.78013	-0.2370|-0.2370	9|6	0.36615|0.87932	T|D	0.2|0	-26.1034|-26.1034	17.5103|17.5103	0.87758|0.87758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	84;84|.	Q96HS1;Q96HS1-2|.	PGAM5_HUMAN;.|.	Q|T	84|123	.|.	ENSP00000321503:E84Q|ENSP00000444697:R123T	E|R	+|+	1|2	0|0	PGAM5|PXMP2	131801575|131801575	1.000000|1.000000	0.71417|0.71417	0.037000|0.037000	0.18230|0.18230	0.396000|0.396000	0.30629|0.30629	6.307000|6.307000	0.72815|0.72815	2.136000|2.136000	0.66102|0.66102	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.537	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		7	42	0	0	0	0.004482	0	7	42				
SACS	26278	broad.mit.edu	37	13	23910525	23910525	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:23910525C>A	ENST00000382292.3	-	9	7763	c.7490G>T	c.(7489-7491)gGa>gTa	p.G2497V	SACS_ENST00000382298.3_Missense_Mutation_p.G2497V|SACS_ENST00000402364.1_Missense_Mutation_p.G1747V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2497					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G2497V(1)|p.G2350V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGGACTGCTCCTAGTTTTAC	0.398																																							uc001uon.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(7489-7491)GGA>GTA		sacsin							146.0	136.0	140.0					13																	23910525		2203	4298	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910525C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7490G>T	13.37:g.23910525C>A	ENSP00000371729:p.Gly2497Val					SACS_uc001uoo.2_Missense_Mutation_p.G2350V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G2497V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8079	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2497					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7490G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997959	0.74818	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93659	-3.26;-3.26;-3.26	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.96236	0.9172	10	0.87932	D	0	.	19.8766	0.96875	0.0:1.0:0.0:0.0	.	2497	Q9NZJ4	SACS_HUMAN	V	2497;1747;2497	ENSP00000371729:G2497V;ENSP00000385844:G1747V;ENSP00000371735:G2497V	ENSP00000371729:G2497V	G	-	2	0	SACS	22808525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.698000	0.92095	0.561000	0.74099	GGA		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		49	88	1	0	5.13769e-22	0.01441	7.40055e-22	49	88				
B3GALTL	145173	broad.mit.edu	37	13	31898026	31898026	+	Silent	SNP	C	C	T	rs547723685	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:31898026C>T	ENST00000343307.4	+	14	1472	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	441					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F441F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCCCTCTCTTCCATCAGGTGA	0.463																																							uc010aaz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1321-1323)TTC>TTT		beta 1,3-galactosyltransferase-like							318.0	289.0	299.0					13																	31898026		2203	4300	6503	SO:0001819	synonymous_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31898026C>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1323C>T	13.37:g.31898026C>T						B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Silent_p.F46F	p.F441F	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	14	1433	+		Lung SC(185;0.0257)	441			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	c.1323C>T	CCDS9341.1																																																																																				0.463	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		92	144	0	0	0	0.01441	0	92	144				
OLFM4	10562	broad.mit.edu	37	13	53616044	53616044	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:53616044G>T	ENST00000219022.2	+	3	435		c.e3-1			NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4						cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTTTCTTTCAGGTGAGGGAAT	0.388																																							uc001vhl.2		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e3-1		olfactomedin 4 precursor							63.0	62.0	63.0					13																	53616044		2203	4300	6503	SO:0001630	splice_region_variant	10562				cell adhesion	extracellular space		g.chr13:53616044G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.358-1G>T	13.37:g.53616044G>T						OLFM4_uc001vhk.1_Splice_Site_p.V120_splice	p.V120_splice	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	358	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						O95362|Q5VWG0|Q86T22	Splice_Site	SNP	ENST00000219022.2	37	c.358_splice	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361006	0.41801	.	.	ENSG00000102837	ENST00000219022	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OLFM4	52514045	1.000000	0.71417	0.996000	0.52242	0.242000	0.25591	7.931000	0.87625	2.709000	0.92574	0.655000	0.94253	.		0.388	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	Intron	11	31	1	0	1.58986e-06	0.008291	1.77791e-06	11	31				
TDRD3	81550	broad.mit.edu	37	13	61084791	61084791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:61084791G>T	ENST00000196169.3	+	10	1552	c.764G>T	c.(763-765)aGa>aTa	p.R255I	TDRD3_ENST00000535286.1_Missense_Mutation_p.R348I|TDRD3_ENST00000377881.2_Missense_Mutation_p.R255I|TDRD3_ENST00000377894.2_Missense_Mutation_p.R255I	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	255					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R255I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGGCGAATAAGATCTGAAGAT	0.368																																					Colon(36;164 906 35820 50723)	Colon(36;164 906 35820 50723)	uc001via.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(763-765)AGA>ATA		tudor domain containing 3 isoform 2							99.0	101.0	100.0					13																	61084791		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61084791G>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.764G>T	13.37:g.61084791G>T	ENSP00000196169:p.Arg255Ile					TDRD3_uc010aef.2_Missense_Mutation_p.R80I|TDRD3_uc001vhz.3_Missense_Mutation_p.R255I|TDRD3_uc010aeg.2_Missense_Mutation_p.R348I|TDRD3_uc001vib.3_Missense_Mutation_p.R254I	p.R255I	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	10	1552	+		Prostate(109;0.173)|Breast(118;0.174)	255					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.764G>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232452	0.95207	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.994	D	0.95421	0.8507	10	0.31617	T	0.26	-22.2458	19.8994	0.96980	0.0:0.0:1.0:0.0	.	348;254;255	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	I	255;255;255;348	ENSP00000196169:R255I;ENSP00000367113:R255I;ENSP00000367126:R255I;ENSP00000440190:R348I	ENSP00000196169:R255I	R	+	2	0	TDRD3	59982792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.042000	0.93793	2.703000	0.92315	0.650000	0.86243	AGA		0.368	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		15	28	1	0	1.5739e-10	0.004007	1.93481e-10	15	28				
UGGT2	55757	broad.mit.edu	37	13	96485250	96485250	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:96485250C>G	ENST00000376747.3	-	38	4529	c.4459G>C	c.(4459-4461)Gaa>Caa	p.E1487Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1487	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E1487Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCACCCATTCTGGGACAATT	0.353																																							uc001vmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4459-4461)GAA>CAA		UDP-glucose ceramide glucosyltransferase-like 2							197.0	176.0	183.0					13																	96485250		2201	4299	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96485250C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4459G>C	13.37:g.96485250C>G	ENSP00000365938:p.Glu1487Gln					UGGT2_uc001vms.2_Missense_Mutation_p.E207Q	p.E1487Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			38	4629	-			1487			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.4459G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962105	0.92791	.	.	ENSG00000102595	ENST00000376747	T	0.23754	1.89	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68473	-0.5399	10	0.87932	D	0	-25.4093	20.2079	0.98282	0.0:1.0:0.0:0.0	.	1487	Q9NYU1	UGGG2_HUMAN	Q	1487	ENSP00000365938:E1487Q	ENSP00000365938:E1487Q	E	-	1	0	UGGT2	95283251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.988000	0.76212	2.781000	0.95711	0.655000	0.94253	GAA		0.353	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		12	50	0	0	0	0.010729	0	12	50				
RNF113B	140432	broad.mit.edu	37	13	98829362	98829362	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:98829362G>T	ENST00000267291.6	-	1	157	c.129C>A	c.(127-129)caC>caA	p.H43Q	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	43							zinc ion binding (GO:0008270)	p.H43Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTCTCTCCGTGCTCGGGGT	0.697																																							uc001vnk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(127-129)CAC>CAA		ring finger protein 113B							21.0	21.0	21.0					13																	98829362		2202	4300	6502	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829362G>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.129C>A	13.37:g.98829362G>T	ENSP00000267291:p.His43Gln					FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.H43Q	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	160	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		43					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.129C>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.585672	0.00872	.	.	ENSG00000139797	ENST00000267291	T	0.27890	1.64	1.17	-1.28	0.09318	.	2.244820	0.02756	U	0.117983	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.10337	-1.0634	10	0.27082	T	0.32	.	3.7841	0.08692	0.1867:0.0:0.5885:0.2247	.	43	Q8IZP6	R113B_HUMAN	Q	43	ENSP00000267291:H43Q	ENSP00000267291:H43Q	H	-	3	2	RNF113B	97627363	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.096000	0.11059	-1.343000	0.02219	-2.697000	0.00138	CAC		0.697	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		13	12	1	0	4.3838e-07	0.001855	4.9556e-07	13	12				
MYO16	23026	broad.mit.edu	37	13	109562458	109562458	+	Missense_Mutation	SNP	G	G	A	rs371106684		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:109562458G>A	ENST00000357550.2	+	15	1860	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	MYO16_ENST00000457511.2_Missense_Mutation_p.E119K|MYO16_ENST00000251041.5_Missense_Mutation_p.E607K|MYO16_ENST00000356711.2_Missense_Mutation_p.E607K	NM_001198950.1	NP_001185879.1			myosin XVI									p.E607K(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATCTGCTGAAGAAAAATATGG	0.348																																							uc001vqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1819-1821)GAA>AAA		myosin heavy chain Myr 8							154.0	163.0	160.0					13																	109562458		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109562458G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1819G>A	13.37:g.109562458G>A	ENSP00000350160:p.Glu607Lys					MYO16_uc010agk.1_Missense_Mutation_p.E629K|MYO16_uc001vqu.1_Missense_Mutation_p.E407K|MYO16_uc010tjh.1_Missense_Mutation_p.E119K	p.E607K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		16	1945	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		607			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1819G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	9.203	1.029043	0.19512	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.2	5.2	0.72013	Myosin head, motor domain (2);	0.000000	0.41500	U	0.000879	D	0.84924	0.5580	M	0.63208	1.945	0.51767	D	0.999934	B;B;B	0.33288	0.406;0.171;0.085	B;B;B	0.31245	0.126;0.081;0.065	D	0.83388	0.0016	9	.	.	.	.	15.9179	0.79535	0.0:0.0:1.0:0.0	.	119;607;607	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	K	607;607;607;607;395;119	ENSP00000349145:E607K;ENSP00000350160:E607K;ENSP00000251041:E607K;ENSP00000401633:E119K	.	E	+	1	0	MYO16	108360459	1.000000	0.71417	0.375000	0.26029	0.816000	0.46133	5.451000	0.66632	2.426000	0.82243	0.591000	0.81541	GAA		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		38	103	0	0	0	0.005524	0	38	103				
IRS2	8660	broad.mit.edu	37	13	110434431	110434431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:110434431C>A	ENST00000375856.3	-	1	4484	c.3970G>T	c.(3970-3972)Gac>Tac	p.D1324Y		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1324				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500). {ECO:0000305}.	brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.D1324Y(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GACAAGAAGTCAATGCTGGCG	0.701																																					Melanoma(100;613 2409 40847)	Melanoma(100;613 2409 40847)	uc001vqv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3970-3972)GAC>TAC		insulin receptor substrate 2							19.0	22.0	21.0					13																	110434431		2170	4254	6424	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434431C>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3970G>T	13.37:g.110434431C>A	ENSP00000365016:p.Asp1324Tyr						p.D1324Y	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4484	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1324	LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).				Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3970G>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502601	0.44455	.	.	ENSG00000185950	ENST00000375856	T	0.58358	0.34	4.23	4.23	0.50019	.	0.069075	0.56097	U	0.000024	T	0.55162	0.1903	L	0.27053	0.805	0.42862	D	0.994118	D	0.61080	0.989	P	0.56916	0.809	T	0.62849	-0.6767	10	0.87932	D	0	-30.7995	15.7953	0.78404	0.0:1.0:0.0:0.0	.	1324	Q9Y4H2	IRS2_HUMAN	Y	1324	ENSP00000365016:D1324Y	ENSP00000365016:D1324Y	D	-	1	0	IRS2	109232432	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.067000	0.71193	2.179000	0.69175	0.551000	0.68910	GAC		0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	9	1	0	0.00448238	0.004482	0.0046064	7	9				
ARHGEF7	8874	broad.mit.edu	37	13	111896599	111896599	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr13:111896599C>T	ENST00000375741.2	+	9	1221	c.971C>T	c.(970-972)tCt>tTt	p.S324F	ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S303F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S146F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S274F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.S231F|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S68F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S146F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S221F|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.S146F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.S146F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S303F(1)|p.S146F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAATATGTTCTTTCCAGCAA	0.308																																							uc001vrs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(970-972)TCT>TTT		PAK-interacting exchange factor beta isoform c							62.0	65.0	64.0					13																	111896599		2202	4293	6495	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111896599C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.971C>T	13.37:g.111896599C>T	ENSP00000364893:p.Ser324Phe					ARHGEF7_uc001vrr.2_Missense_Mutation_p.S303F|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S274F|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Missense_Mutation_p.S146F|ARHGEF7_uc001vrv.3_Missense_Mutation_p.S146F|ARHGEF7_uc001vrw.3_Missense_Mutation_p.S146F|ARHGEF7_uc001vrx.3_Missense_Mutation_p.S146F|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S221F|ARHGEF7_uc010tjp.1_Missense_Mutation_p.S68F|ARHGEF7_uc010agn.1_Missense_Mutation_p.S68F	p.S324F	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		9	1221	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		324			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.971C>T	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442249	0.83993	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.14	5.14	0.70334	Dbl homology (DH) domain (5);	0.102831	0.64402	D	0.000002	T	0.74427	0.3715	L	0.52573	1.65	0.80722	D	1	P;P;P;P;D;P	0.53462	0.836;0.952;0.836;0.913;0.96;0.915	P;P;P;P;D;P	0.64776	0.777;0.893;0.777;0.713;0.929;0.831	T	0.76332	-0.2998	10	0.62326	D	0.03	.	18.2208	0.89901	0.0:1.0:0.0:0.0	.	68;221;68;274;324;303	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	F	303;324;274;231;301;146;146;146;146;221;146;68	ENSP00000325994:S303F;ENSP00000364893:S324F;ENSP00000364891:S274F;ENSP00000359657:S231F;ENSP00000418067:S146F;ENSP00000218789:S146F;ENSP00000364888:S146F;ENSP00000397068:S146F;ENSP00000364889:S221F;ENSP00000364875:S146F;ENSP00000417596:S68F	ENSP00000218789:S146F	S	+	2	0	ARHGEF7	110694600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	2.372000	0.80975	0.563000	0.77884	TCT		0.308	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		10	46	0	0	0	0.010729	0	10	46				
POTEG	404785	broad.mit.edu	37	14	19553698	19553698	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:19553698C>T	ENST00000409832.3	+	1	334	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	94								p.L94L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.622																																							uc001vuz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(280-282)CTC>CTT		POTE ankyrin domain family, member G							49.0	60.0	57.0					14																	19553698		1537	3266	4803	SO:0001819	synonymous_variant	404785							g.chr14:19553698C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.282C>T	14.37:g.19553698C>T						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.L94L	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	334	+			94					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.282C>T	CCDS32018.1																																																																																				0.622	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		12	582	0	0	0	0.00278	0	12	582				
OR4N2	390429	broad.mit.edu	37	14	20296313	20296313	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:20296313G>T	ENST00000315947.1	+	1	706	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A236S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAAAACAAGGCCATGTCCAC	0.502																																							uc010tkv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(706-708)GCC>TCC		olfactory receptor, family 4, subfamily N,							108.0	109.0	109.0					14																	20296313		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296313G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.706G>T	14.37:g.20296313G>T	ENSP00000319601:p.Ala236Ser						p.A236S	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	706	+	all_cancers(95;0.00108)		236			Helical; Name=6; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.706G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.907903	0.52333	.	.	ENSG00000176294	ENST00000315947	T	0.00359	7.87	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	T	0.01092	0.0036	M	0.91818	3.245	0.35734	D	0.818156	D	0.89917	1.0	D	0.79108	0.992	T	0.52609	-0.8553	10	0.87932	D	0	-13.8286	15.4109	0.74917	0.0:0.0:1.0:0.0	.	236	Q8NGD1	OR4N2_HUMAN	S	236	ENSP00000319601:A236S	ENSP00000319601:A236S	A	+	1	0	OR4N2	19366153	1.000000	0.71417	0.987000	0.45799	0.144000	0.21451	4.379000	0.59575	2.575000	0.86900	0.585000	0.79938	GCC		0.502	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			52	89	1	0	1.66251e-12	0.01441	2.16667e-12	52	89				
OR4K15	81127	broad.mit.edu	37	14	20443737	20443738	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:20443737_20443738CC>AA	ENST00000305051.5	+	1	135_136	c.60_61CC>AA	c.(58-63)tcCCtt>tcAAtt	p.L21I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L21I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATTAAGTCCCTTCCAAAATC	0.391																																							uc010tkx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-63)TCCCTT>TCAATT		olfactory receptor, family 4, subfamily K,																																				SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443737_20443738CC>AA		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	Exception_encountered	14.37:g.20443737_20443738delinsAA	ENSP00000304077:p.Leu21Ile						p.L21I	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	60_61	+	all_cancers(95;0.00108)		21			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	DNP	ENST00000305051.5	37	c.60_61CC>AA	CCDS32026.1																																																																																				0.391	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			19	60	0	0	0	0.004672	0	19	60				
RNASE7	84659	broad.mit.edu	37	14	21511199	21511199	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:21511199G>T	ENST00000298690.4	+	2	305	c.48G>T	c.(46-48)ctG>ctT	p.L16L	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	16					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)	p.L16L(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCTTCTGCTGCTGGGGCTGT	0.597																																							uc001vzk.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(46-48)CTG>CTT		ribonuclease, RNase A family, 7 precursor							46.0	45.0	46.0					14																	21511199		2202	4300	6502	SO:0001819	synonymous_variant	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511199G>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.48G>T	14.37:g.21511199G>T						NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	p.L16L	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	305	+	all_cancers(95;0.000759)		16					P80927|P83685|Q546N3	Silent	SNP	ENST00000298690.4	37	c.48G>T	CCDS41914.1																																																																																				0.597	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		9	17	1	0	0.00448238	0.004482	0.0046064	9	17				
OR10G3	26533	broad.mit.edu	37	14	22038045	22038045	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:22038045G>A	ENST00000303532.1	-	1	830	c.831C>T	c.(829-831)ccC>ccT	p.P277P		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P277P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGATGGCCGTGGGGACTAGGG	0.567																																							uc010tmb.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(829-831)CCC>CCT		olfactory receptor, family 10, subfamily G,							73.0	76.0	75.0					14																	22038045		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038045G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.831C>T	14.37:g.22038045G>A							p.P277P	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	831	-	all_cancers(95;0.000987)		277			Helical; Name=7; (Potential).		Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.831C>T	CCDS32046.1																																																																																				0.567	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			24	57	0	0	0	0.003954	0	24	57				
NGDN	25983	broad.mit.edu	37	14	23944783	23944783	+	Missense_Mutation	SNP	G	G	A	rs148302816		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:23944783G>A	ENST00000408901.3	+	5	327	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NGDN_ENST00000556580.1_5'Flank|NGDN_ENST00000397154.3_Missense_Mutation_p.R100H	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	100	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R100H(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAAAGCTTCGTCCCTTGGAC	0.428																																							uc001wjy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(298-300)CGT>CAT		neuroguidin isoform 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131.0	131.0	131.0		299,299	6.2	1.0	14	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NGDN	NM_001042635.1,NM_015514.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	100/316,100/312	23944783	1,13005	2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23944783G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.299G>A	14.37:g.23944783G>A	ENSP00000386134:p.Arg100His					NGDN_uc001wjz.2_Missense_Mutation_p.R100H|NGDN_uc001wka.2_5'Flank	p.R100H	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	326	+	all_cancers(95;0.000251)		100			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.299G>A	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941912	0.73557	0.0	1.16E-4	ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128	T;T	0.43688	0.94;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68693	-0.5341	10	0.72032	D	0.01	-0.0433	19.6509	0.95805	0.0:0.0:1.0:0.0	.	100;100	Q8NEJ9-2;Q8NEJ9	.;NGDN_HUMAN	H	100;100;75	ENSP00000386134:R100H;ENSP00000380340:R100H	ENSP00000380340:R100H	R	+	2	0	NGDN	23014623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.941000	0.99782	0.655000	0.94253	CGT		0.428	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		46	59	0	0	0	0.01441	0	46	59				
PRKD1	5587	broad.mit.edu	37	14	30095757	30095757	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:30095757G>A	ENST00000331968.5	-	12	1960	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	PRKD1_ENST00000415220.2_Silent_p.I585I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	577					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I577I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATACTGTGCTGATGTCCTAGA	0.303																																							uc001wqh.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1729-1731)ATC>ATT		protein kinase D1							51.0	54.0	53.0					14																	30095757		2203	4298	6501	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30095757G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1731C>T	14.37:g.30095757G>A							p.I577I	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	12	1912	-	Hepatocellular(127;0.0604)		577					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1731C>T	CCDS9637.1																																																																																				0.303	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		13	39	0	0	0	0.00245	0	13	39				
PRKD1	5587	broad.mit.edu	37	14	30396585	30396585	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:30396585G>A	ENST00000331968.5	-	1	363	c.134C>T	c.(133-135)cCg>cTg	p.P45L	PRKD1_ENST00000415220.2_Missense_Mutation_p.P45L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	45					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P45L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCCCCCGACCGGGGCCGCGAC	0.756																																							uc001wqh.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(133-135)CCG>CTG		protein kinase D1							5.0	7.0	7.0					14																	30396585		2084	4088	6172	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30396585G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.134C>T	14.37:g.30396585G>A	ENSP00000333568:p.Pro45Leu						p.P45L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	1	315	-	Hepatocellular(127;0.0604)		45					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.134C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469019	0.43839	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.64803	-0.12;-0.12	3.45	3.45	0.39498	.	0.642328	0.12395	U	0.472608	T	0.50871	0.1641	L	0.29908	0.895	0.36118	D	0.845283	B	0.22851	0.076	B	0.17433	0.018	T	0.57843	-0.7741	10	0.66056	D	0.02	.	12.3938	0.55373	0.0:0.0:1.0:0.0	.	45	Q15139	KPCD1_HUMAN	L	45	ENSP00000333568:P45L;ENSP00000390535:P45L	ENSP00000333568:P45L	P	-	2	0	PRKD1	29466336	0.968000	0.33430	0.877000	0.34402	0.472000	0.32918	1.980000	0.40618	1.471000	0.48121	0.460000	0.39030	CCG		0.756	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		4	6	0	0	0	0.009096	0	4	6				
FRMD6	122786	broad.mit.edu	37	14	52188726	52188726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:52188726G>T	ENST00000344768.5	+	12	1616	c.1420G>T	c.(1420-1422)Gaa>Taa	p.E474*	RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000553556.1_Nonsense_Mutation_p.E116*|FRMD6_ENST00000395718.2_Nonsense_Mutation_p.E466*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.E397*|FRMD6_ENST00000356218.4_Nonsense_Mutation_p.E466*			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	474					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.E466*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAGTCTCTGGAAGTCAGCCC	0.468																																							uc001wzd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1420-1422)GAA>TAA		FERM domain containing 6							123.0	116.0	118.0					14																	52188726		2203	4300	6503	SO:0001587	stop_gained	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188726G>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1420G>T	14.37:g.52188726G>T	ENSP00000343899:p.Glu474*					FRMD6_uc001wzb.2_Nonsense_Mutation_p.E466*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.E466*|FRMD6_uc001wze.2_Nonsense_Mutation_p.E397*|FRMD6_uc001wzf.2_Nonsense_Mutation_p.E167*|FRMD6_uc001wzg.2_Nonsense_Mutation_p.E116*	p.E474*	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			12	1705	+	all_epithelial(31;0.0163)|Breast(41;0.089)		474					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Nonsense_Mutation	SNP	ENST00000344768.5	37	c.1420G>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404137	0.96051	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	.	.	.	5.65	5.65	0.86999	.	0.217325	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	.	.	.	X	466;466;474;397;114;116	.	ENSP00000343899:E474X	E	+	1	0	FRMD6	51258476	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.984000	0.76186	2.835000	0.97688	0.650000	0.86243	GAA		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		13	39	1	0	1.49906e-05	0.00245	1.63078e-05	13	39				
OTX2	5015	broad.mit.edu	37	14	57268855	57268855	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:57268855G>A	ENST00000555006.1	-	4	876	c.468C>T	c.(466-468)tcC>tcT	p.S156S	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000339475.5_Silent_p.S164S|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Silent_p.S156S			P32243	OTX2_HUMAN	orthodenticle homeobox 2	156					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S164S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTGGGGAGATGGAAGCTGGGC	0.542																																							uc001xcp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(466-468)TCC>TCT		orthodenticle homeobox 2 isoform b							124.0	111.0	115.0					14																	57268855		2203	4300	6503	SO:0001819	synonymous_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268855G>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.468C>T	14.37:g.57268855G>A						OTX2_uc010aou.2_Silent_p.S156S|OTX2_uc001xcq.2_Silent_p.S164S	p.S156S	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	639	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		156					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	c.468C>T	CCDS41960.1																																																																																				0.542	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		6	46	0	0	0	0.001168	0	6	46				
DACT1	51339	broad.mit.edu	37	14	59108331	59108331	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:59108331G>T	ENST00000335867.4	+	3	524	c.500G>T	c.(499-501)gGg>gTg	p.G167V	DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.G167V|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000555845.1_3'UTR			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	167					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.G167V(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGAGTGATGGGGCTTCAGGA	0.423																																							uc001xdw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(499-501)GGG>GTG		dapper 1 isoform 1							228.0	213.0	218.0					14																	59108331		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59108331G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.500G>T	14.37:g.59108331G>T	ENSP00000337439:p.Gly167Val					DACT1_uc010trv.1_5'UTR|DACT1_uc001xdx.2_Missense_Mutation_p.G167V|DACT1_uc010trw.1_5'UTR	p.G167V	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			3	664	+			167					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.500G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499294	0.64298	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.59364	0.27;0.27	5.31	5.31	0.75309	.	0.049710	0.85682	D	0.000000	T	0.75874	0.3909	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.77507	-0.2562	10	0.87932	D	0	-24.5136	19.1722	0.93583	0.0:0.0:1.0:0.0	.	167;167	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	167	ENSP00000378582:G167V;ENSP00000337439:G167V	ENSP00000337439:G167V	G	+	2	0	DACT1	58178084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.016000	0.57159	2.763000	0.94921	0.563000	0.77884	GGG		0.423	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		25	101	1	0	4.22769e-11	0.00632	5.29735e-11	25	101				
ADAM20	8748	broad.mit.edu	37	14	70991507	70991507	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:70991507G>C	ENST00000256389.3	-	2	362	c.118C>G	c.(118-120)Cta>Gta	p.L40V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L40V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CATCTGTCTAGAGCAGAAGAG	0.537																																							uc001xme.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)CTA>GTA		ADAM metallopeptidase domain 20 preproprotein							178.0	130.0	146.0					14																	70991507		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991507G>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.118C>G	14.37:g.70991507G>C	ENSP00000256389:p.Leu40Val						p.L40V	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	363	-			Error:Variant_position_missing_in_O43506_after_alignment					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.118C>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280222	0.23392	.	.	ENSG00000134007	ENST00000256389	T	0.01025	5.43	3.83	0.954	0.19595	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48019	-0.9071	6	0.62326	D	0.03	.	6.6002	0.22697	0.3098:0.0:0.6902:0.0	.	.	.	.	V	40	ENSP00000256389:L40V	ENSP00000256389:L40V	L	-	1	2	ADAM20	70061260	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.035000	0.12205	0.076000	0.16826	-0.145000	0.13849	CTA		0.537	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			39	56	0	0	0	0.00874	0	39	56				
PCNX	22990	broad.mit.edu	37	14	71518646	71518646	+	Silent	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:71518646T>C	ENST00000304743.2	+	24	4940	c.4494T>C	c.(4492-4494)tcT>tcC	p.S1498S	PCNX_ENST00000439984.3_Silent_p.S1387S|PCNX_ENST00000238570.5_Silent_p.S1498S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1498						integral component of membrane (GO:0016021)		p.S1498S(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCTTCTTCTCTACTCCACTGA	0.433																																							uc001xmo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4492-4494)TCT>TCC		pecanex-like 1							195.0	185.0	189.0					14																	71518646		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71518646T>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4494T>C	14.37:g.71518646T>C						PCNX_uc010are.1_Silent_p.S1387S|PCNX_uc010arf.1_Silent_p.S358S	p.S1498S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	24	4940	+			1498					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.4494T>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425613	0.25639	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.84	-0.0785	0.13714	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	.	5.9882	0.19446	0.0:0.3216:0.1302:0.5482	.	.	.	.	P	557	.	.	L	+	2	0	PCNX	70588399	0.993000	0.37304	0.913000	0.36048	0.994000	0.84299	0.290000	0.18975	-0.235000	0.09767	0.455000	0.32223	CTA		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		71	85	0	0	0	0.01441	0	71	85				
ACOT1	641371	broad.mit.edu	37	14	74008311	74008311	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:74008311A>G	ENST00000311148.4	+	2	880	c.572A>G	c.(571-573)tAt>tGt	p.Y191C	HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.Y191C|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	191					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.Y191C(1)		endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CTGGCTTACTATAACTATGAA	0.517																																							uc001xol.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)TAT>TGT		acyl-CoA thioesterase 1							220.0	172.0	189.0					14																	74008311		1988	3601	5589	SO:0001583	missense	641371				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74008311A>G	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.572A>G	14.37:g.74008311A>G	ENSP00000311224:p.Tyr191Cys					HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Missense_Mutation_p.Y191C	p.Y191C	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	2	770	+			191					A1L173|Q3I5F9	Missense_Mutation	SNP	ENST00000311148.4	37	c.572A>G	CCDS32117.1	.	.	.	.	.	.	.	.	.	.	-	6.629	0.484411	0.12641	.	.	ENSG00000184227	ENST00000311148;ENST00000557556	T;T	0.43294	0.95;0.95	3.61	2.45	0.29901	.	0.387634	0.29846	N	0.011043	T	0.34832	0.0911	M	0.64170	1.965	0.43647	D	0.996055	B;B	0.25955	0.138;0.138	B;B	0.24541	0.054;0.054	T	0.18461	-1.0336	10	0.52906	T	0.07	-0.9156	4.6648	0.12660	0.7403:0.0:0.0929:0.1668	.	191;191	E9KL42;Q86TX2	.;ACOT1_HUMAN	C	191	ENSP00000311224:Y191C;ENSP00000451764:Y191C	ENSP00000311224:Y191C	Y	+	2	0	ACOT1	73078064	0.000000	0.05858	0.977000	0.42913	0.035000	0.12851	1.013000	0.29937	0.575000	0.29434	0.347000	0.21830	TAT		0.517	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		41	37	0	0	0	0.005524	0	41	37				
FBLN5	10516	broad.mit.edu	37	14	92353592	92353592	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:92353592G>A	ENST00000342058.4	-	7	1277	c.684C>T	c.(682-684)ttC>ttT	p.F228F	FBLN5_ENST00000556154.1_Silent_p.F233F|FBLN5_ENST00000267620.10_Silent_p.F269F	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	228	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			F -> L (in Ref. 4; AAQ89257). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.F228F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCGGCAGATGAAAGAGCCGT	0.537																																							uc001xzx.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(682-684)TTC>TTT		fibulin 5 precursor							211.0	175.0	187.0					14																	92353592		2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353592G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.684C>T	14.37:g.92353592G>A						FBLN5_uc010aud.2_Silent_p.F233F|FBLN5_uc010aue.2_Silent_p.F269F	p.F228F	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			7	1157	-		all_cancers(154;0.0722)	228	F -> L (in Ref. 4; AAQ89257).		EGF-like 4; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.684C>T	CCDS9898.1																																																																																				0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			5	95	0	0	0	0.001168	0	5	95				
UNC79	57578	broad.mit.edu	37	14	94156556	94156556	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:94156556C>T	ENST00000393151.2	+	46	7296	c.7296C>T	c.(7294-7296)gcC>gcT	p.A2432A	UNC79_ENST00000256339.4_Silent_p.A2255A|UNC79_ENST00000553484.1_Silent_p.A2454A|UNC79_ENST00000555664.1_Silent_p.A2393A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2432					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2255A(1)|p.A2454A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCCAAATGCCTCCTCTCCCT	0.498																																							uc001ybv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(6829-6831)GCC>GCT		hypothetical protein LOC57578							185.0	154.0	164.0					14																	94156556		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94156556C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7296C>T	14.37:g.94156556C>T						KIAA1409_uc001ybs.1_Silent_p.A2255A	p.A2277A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	44	6914	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2432					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.6831C>T																																																																																					0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		21	53	0	0	0	0.00278	0	21	53				
SERPINA10	51156	broad.mit.edu	37	14	94754747	94754747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:94754747G>T	ENST00000393096.1	-	3	1333	c.868C>A	c.(868-870)Ctg>Atg	p.L290M	SERPINA10_ENST00000554173.1_Missense_Mutation_p.L290M|SERPINA10_ENST00000554723.1_Missense_Mutation_p.L330M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L290M	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	290					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L290M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGTAGGGCAGTTTGAGGACA	0.512																																							uc001yct.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(868-870)CTG>ATG		serine (or cysteine) proteinase inhibitor, clade							147.0	119.0	128.0					14																	94754747		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94754747G>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.868C>A	14.37:g.94754747G>T	ENSP00000376809:p.Leu290Met					SERPINA10_uc001ycu.3_Missense_Mutation_p.L290M	p.L290M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1334	-		all_cancers(154;0.105)	290					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.868C>A	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939249	0.34189	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.37	3.52	0.40303	Serpin domain (3);	0.000000	0.49916	D	0.000138	D	0.89746	0.6804	L	0.48935	1.535	0.51012	D	0.999909	D	0.89917	1.0	D	0.87578	0.998	D	0.85608	0.1256	10	0.13108	T	0.6	.	8.2675	0.31824	0.1397:0.0:0.7346:0.1257	.	290	Q9UK55	ZPI_HUMAN	M	330;290;290;290	ENSP00000450896:L330M;ENSP00000376809:L290M;ENSP00000261994:L290M;ENSP00000450971:L290M	ENSP00000261994:L290M	L	-	1	2	SERPINA10	93824500	1.000000	0.71417	0.822000	0.32727	0.375000	0.29983	2.198000	0.42705	1.259000	0.44117	0.313000	0.20887	CTG		0.512	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		24	35	1	0	1.1804e-14	0.003954	1.57791e-14	24	35				
CEP170B	283638	broad.mit.edu	37	14	105350346	105350346	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:105350346C>T	ENST00000414716.3	+	9	1458	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	CEP170B_ENST00000418279.1_Silent_p.D340D|CEP170B_ENST00000453495.1_Silent_p.D411D|CEP170B_ENST00000556508.1_Silent_p.D340D	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	410						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.D410D(1)|p.D341D(1)									AGTTCTTCGACGAGGACACAC	0.657																																							uc010axb.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1228-1230)GAC>GAT		hypothetical protein LOC283638 isoform 1							33.0	39.0	37.0					14																	105350346		2055	4172	6227	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105350346C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1230C>T	14.37:g.105350346C>T						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.D340D|KIAA0284_uc001yps.2_Silent_p.D316D	p.D410D	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	9	1454	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	410					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.1230C>T	CCDS45175.1																																																																																				0.657	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	2	0	0	0	0.009096	0	3	2				
NUDT14	256281	broad.mit.edu	37	14	105643016	105643016	+	Missense_Mutation	SNP	C	C	A	rs141847132		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr14:105643016C>A	ENST00000392568.2	-	4	376	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'Flank	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	95	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.G95C(1)|p.G95S(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCGCTGAGCCGGGCAGGGCT	0.677										HNSCC(42;0.11)																													uc010tyn.1		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	skin(1)	1						c.(283-285)GGC>TGC		nudix-type motif 14							46.0	45.0	45.0					14																	105643016		2199	4289	6488	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643016C>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.283G>T	14.37:g.105643016C>A	ENSP00000376349:p.Gly95Cys	HNSCC(42;0.11)				NUDT14_uc001yqi.2_RNA	p.G95C	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	397	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	95			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.283G>T	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492614	0.44352	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.92	3.92	0.45320	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.264215	0.35646	N	0.003069	T	0.66386	0.2784	L	0.46157	1.445	0.38437	D	0.946596	D	0.76494	0.999	D	0.71414	0.973	T	0.68554	-0.5378	9	0.49607	T	0.09	-17.3214	11.7227	0.51691	0.0:1.0:0.0:0.0	.	95	O95848	NUD14_HUMAN	C	95	.	ENSP00000376349:G95C	G	-	1	0	NUDT14	104714061	0.973000	0.33851	0.432000	0.26747	0.068000	0.16541	4.405000	0.59741	2.480000	0.83734	0.563000	0.77884	GGC		0.677	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		14	48	1	0	7.93312e-07	0.00245	8.90977e-07	14	48				
GABRA5	2558	broad.mit.edu	37	15	27159959	27159959	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:27159959C>T	ENST00000335625.5	+	7	1395	c.507C>T	c.(505-507)atC>atT	p.I169I	GABRA5_ENST00000400081.3_Silent_p.I169I|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.I169I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	169					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|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)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I169I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GCTTGACCATCTCTGCAGAGT	0.468																																							uc001zbd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(505-507)ATC>ATT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						76.0	77.0	77.0					15																	27159959		1970	4168	6138	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27159959C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.507C>T	15.37:g.27159959C>T						GABRB3_uc001zbb.2_Intron	p.I169I	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	8	846	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	169			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.507C>T	CCDS45194.1																																																																																				0.468	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			9	17	0	0	0	0.001855	0	9	17				
LTK	4058	broad.mit.edu	37	15	41796253	41796253	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:41796253G>T	ENST00000263800.6	-	20	2632	c.2536C>A	c.(2536-2538)Ccc>Acc	p.P846T	LTK_ENST00000561619.1_Missense_Mutation_p.P544T|LTK_ENST00000355166.5_Missense_Mutation_p.P785T|LTK_ENST00000453182.2_Missense_Mutation_p.P716T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	846					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P846T(1)|p.P785T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATTTGAGGGGCTTGAGGCCA	0.607										TSP Lung(18;0.14)																													uc001zoa.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|central_nervous_system(1)	7						c.(2536-2538)CCC>ACC		leukocyte receptor tyrosine kinase isoform 1							39.0	45.0	43.0					15																	41796253		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41796253G>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2536C>A	15.37:g.41796253G>T	ENSP00000263800:p.Pro846Thr	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.P785T|LTK_uc010ucx.1_Missense_Mutation_p.P716T|LTK_uc010bcg.2_Missense_Mutation_p.P544T	p.P846T	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	20	2714	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	846			Cytoplasmic (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.2536C>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	7.360	0.624684	0.14193	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.75477	-0.94;-0.71;-0.89	4.52	-1.19	0.09585	.	0.556043	0.13481	N	0.384684	T	0.43233	0.1238	N	0.08118	0	0.18873	N	0.999986	B;B;B;B	0.12013	0.005;0.001;0.004;0.001	B;B;B;B	0.12156	0.003;0.002;0.007;0.003	T	0.21177	-1.0253	10	0.12766	T	0.61	.	1.5061	0.02486	0.1688:0.1316:0.3873:0.3123	.	716;716;785;846	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	T	785;846;716	ENSP00000347293:P785T;ENSP00000263800:P846T;ENSP00000392196:P716T	ENSP00000263800:P846T	P	-	1	0	LTK	39583545	0.522000	0.26266	0.939000	0.37840	0.848000	0.48234	1.317000	0.33631	-0.308000	0.08792	-0.136000	0.14681	CCC		0.607	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			26	13	1	0	3.1745e-13	0.008361	4.18969e-13	26	13				
MGA	23269	broad.mit.edu	37	15	41991273	41991273	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:41991273A>T	ENST00000570161.1	+	4	2104	c.2104A>T	c.(2104-2106)Aga>Tga	p.R702*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R702*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R702*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R702*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R702*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R702*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACAGAGCAAGAATTTCCCA	0.393																																							uc001zog.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2104-2106)AGA>TGA		MAX-interacting protein isoform 2							76.0	72.0	73.0					15																	41991273		1829	4083	5912	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41991273A>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2104A>T	15.37:g.41991273A>T	ENSP00000457035:p.Arg702*					MGA_uc010ucy.1_Nonsense_Mutation_p.R702*|MGA_uc010ucz.1_Nonsense_Mutation_p.R702*	p.R702*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	5	2195	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	702					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.2104A>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	39	7.387281	0.98252	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.08	2.59	0.31030	.	3.548680	0.00559	N	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4269	0.44385	0.6534:0.3466:0.0:0.0	.	.	.	.	X	702	.	ENSP00000219905:R702X	R	+	1	2	MGA	39778565	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.834000	0.39171	0.786000	0.33708	0.459000	0.35465	AGA		0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	6	0	0	0	0.001984	0	6	6				
SIN3A	25942	broad.mit.edu	37	15	75705247	75705247	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr15:75705247G>C	ENST00000394947.3	-	5	927	c.613C>G	c.(613-615)Cct>Gct	p.P205A	SIN3A_ENST00000394949.4_Missense_Mutation_p.P205A|SIN3A_ENST00000360439.4_Missense_Mutation_p.P205A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.P205A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACCTGGCCAGGAGTTGTCACA	0.542																																							uc002bai.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(613-615)CCT>GCT		transcriptional co-repressor Sin3A							207.0	166.0	180.0					15																	75705247		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75705247G>C	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.613C>G	15.37:g.75705247G>C	ENSP00000378402:p.Pro205Ala					SIN3A_uc002baj.2_Missense_Mutation_p.P205A|SIN3A_uc010uml.1_Missense_Mutation_p.P205A	p.P205A	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			5	872	-			205			Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.613C>G	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050484	0.93740	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.65364	-0.15;-0.15;-0.15	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	D	0.66847	0.947	T	0.80070	-0.1536	10	0.72032	D	0.01	-14.8912	19.5674	0.95401	0.0:0.0:1.0:0.0	.	205	Q96ST3	SIN3A_HUMAN	A	205	ENSP00000378402:P205A;ENSP00000378403:P205A;ENSP00000353622:P205A	ENSP00000353622:P205A	P	-	1	0	SIN3A	73492300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.867000	0.99620	2.873000	0.98535	0.561000	0.74099	CCT		0.542	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		6	32	0	0	0	0.004482	0	6	32				
SYNGR3	9143	broad.mit.edu	37	16	2042716	2042716	+	Silent	SNP	G	G	A	rs201344943	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2042716G>A	ENST00000248121.2	+	3	575	c.417G>A	c.(415-417)acG>acA	p.T139T	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R51Q	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	139	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)		p.T139T(1)		endometrium(1)|lung(2)	3						GGCCGGCCACGACGCAGGCGG	0.716													G|||	2	0.000399361	0.0	0.0	5008	,	,		8635	0.0		0.001	False		,,,				2504	0.001						uc002cod.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)ACG>ACA		synaptogyrin 3							16.0	16.0	16.0					16																	2042716		2176	4271	6447	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042716G>A	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.417G>A	16.37:g.2042716G>A							p.T139T	NM_004209	NP_004200	O43761	SNG3_HUMAN			3	553	+			139			MARVEL.		B2R9S0	Silent	SNP	ENST00000248121.2	37	c.417G>A	CCDS10456.1																																																																																				0.716	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			8	5	0	0	0	0.010729	0	8	5				
ZNF598	90850	broad.mit.edu	37	16	2048280	2048280	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2048280C>G	ENST00000563630.1	-	12	2745	c.2503G>C	c.(2503-2505)Gac>Cac	p.D835H	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.D890H|ZNF598_ENST00000562103.1_Missense_Mutation_p.D835H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D890H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTCGTCGTCCCGGGCAGCA	0.687																																							uc002cof.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(2668-2670)GAC>CAC		zinc finger protein 598							81.0	93.0	89.0					16																	2048280		2146	4235	6381	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2048280C>G	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2503G>C	16.37:g.2048280C>G	ENSP00000455882:p.Asp835His					ZNF598_uc002coe.1_Missense_Mutation_p.D254H	p.D890H	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			14	2683	-			890					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.2668G>C		.	.	.	.	.	.	.	.	.	.	.	18.53	3.643709	0.67244	.	.	ENSG00000167962	ENST00000431526	T	0.22945	1.93	4.75	4.75	0.60458	.	0.215683	0.48286	D	0.000200	T	0.51227	0.1662	M	0.75447	2.3	0.48135	D	0.999591	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.56559	-0.7959	10	0.87932	D	0	-34.7777	16.8975	0.86104	0.0:1.0:0.0:0.0	.	890;882	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	H	890	ENSP00000411409:D890H	ENSP00000411409:D890H	D	-	1	0	ZNF598	1988281	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.736000	0.55052	2.465000	0.83290	0.563000	0.77884	GAC		0.687	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		38	46	0	0	0	0.006999	0	38	46				
CASKIN1	57524	broad.mit.edu	37	16	2231382	2231382	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2231382C>A	ENST00000343516.6	-	18	2079	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	663					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.A663S(1)|p.A492S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTCATGGCAGCCTGCAGCTCG	0.697																																							uc010bsg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1987-1989)GCT>TCT		CASK interacting protein 1							12.0	20.0	17.0					16																	2231382		1998	4153	6151	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2231382C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1987G>T	16.37:g.2231382C>A	ENSP00000345436:p.Ala663Ser						p.A663S	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			18	2019	-			663					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1987G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117765	0.37339	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.65732	-0.17	4.29	4.29	0.51040	.	.	.	.	.	T	0.55689	0.1936	L	0.47716	1.5	0.40230	D	0.977838	B	0.23442	0.085	B	0.17979	0.02	T	0.56817	-0.7916	9	0.40728	T	0.16	-4.9956	15.457	0.75325	0.0:1.0:0.0:0.0	.	663	Q8WXD9	CSKI1_HUMAN	S	663;492	ENSP00000345436:A663S	ENSP00000345436:A663S	A	-	1	0	CASKIN1	2171383	0.902000	0.30710	1.000000	0.80357	0.967000	0.64934	1.712000	0.37940	2.224000	0.72417	0.555000	0.69702	GCT		0.697	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		10	11	1	0	0.000978159	0.010729	0.00101932	10	11				
SRRM2	23524	broad.mit.edu	37	16	2813861	2813861	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:2813861G>A	ENST00000301740.8	+	11	3881	c.3332G>A	c.(3331-3333)aGa>aAa	p.R1111K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1111	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R1111K(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGGCATCCAGATCTCCAATA	0.478																																							uc002crk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3331-3333)AGA>AAA		splicing coactivator subunit SRm300							84.0	85.0	85.0					16																	2813861		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813861G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3332G>A	16.37:g.2813861G>A	ENSP00000301740:p.Arg1111Lys					SRRM2_uc002crj.1_Missense_Mutation_p.R1015K|SRRM2_uc002crl.1_Missense_Mutation_p.R1111K|SRRM2_uc010bsu.1_Missense_Mutation_p.R1015K	p.R1111K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3881	+			1111			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3332G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727025	0.03158	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92446	-3.04	5.92	-1.89	0.07689	.	0.359987	0.27433	N	0.019388	T	0.78691	0.4323	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64651	-0.6357	10	0.02654	T	1	-0.9162	5.9816	0.19411	0.208:0.0:0.4611:0.3309	.	1111	Q9UQ35	SRRM2_HUMAN	K	1111;1111;363	ENSP00000301740:R1111K	ENSP00000301740:R1111K	R	+	2	0	SRRM2	2753862	0.161000	0.22892	0.037000	0.18230	0.148000	0.21650	0.207000	0.17395	-0.101000	0.12219	-0.136000	0.14681	AGA		0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			37	21	0	0	0	0.007835	0	37	21				
THOC6	79228	broad.mit.edu	37	16	3076108	3076108	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:3076108C>G	ENST00000326266.8	+	4	561	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V	HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.L65V|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.L89V|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.L65V|HCFC1R1_ENST00000248089.3_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	89					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.L89V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGATCGACATCTGCTTAGTGC	0.562																																							uc002ctb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(265-267)CTG>GTG		WD repeat domain 58 isoform 1							146.0	154.0	151.0					16																	3076108		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076108C>G	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.265C>G	16.37:g.3076108C>G	ENSP00000326531:p.Leu89Val					HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.L89V|THOC6_uc002ctc.2_Missense_Mutation_p.L65V|THOC6_uc002cta.2_Missense_Mutation_p.L65V	p.L89V	NM_024339	NP_077315	Q86W42	THOC6_HUMAN			4	561	+			89			WD 2.		B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.265C>G	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059802	0.55325	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.39229	1.09;1.09	5.55	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.82823	2.61	0.50039	D	0.999845	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.61855	-0.6977	10	0.37606	T	0.19	-3.608	10.3185	0.43751	0.0:0.857:0.0:0.143	.	89;89	Q86W42-3;Q86W42	.;THOC6_HUMAN	V	89	ENSP00000326531:L89V;ENSP00000253952:L89V	ENSP00000253952:L89V	L	+	1	2	THOC6	3016109	0.998000	0.40836	0.961000	0.40146	0.980000	0.70556	3.713000	0.54882	2.620000	0.88729	0.561000	0.74099	CTG		0.562	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		4	96	0	0	0	0.000602	0	4	96				
NDE1	54820	broad.mit.edu	37	16	15771799	15771799	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:15771799G>T	ENST00000396353.2	+	5	1205	c.379G>T	c.(379-381)Gcc>Tcc	p.A127S	NDE1_ENST00000396355.1_Missense_Mutation_p.A127S|NDE1_ENST00000396354.1_Missense_Mutation_p.A127S|NDE1_ENST00000342673.5_Missense_Mutation_p.A127S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	127	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)	p.A127S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CCTGGAAAGAGCCAAGCGGTA	0.537																																							uc002ddt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)GCC>TCC		nuclear distribution gene E homolog 1							104.0	100.0	101.0					16																	15771799		2197	4300	6497	SO:0001583	missense	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15771799G>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.379G>T	16.37:g.15771799G>T	ENSP00000379641:p.Ala127Ser					NDE1_uc010uzy.1_Missense_Mutation_p.A127S|NDE1_uc002dds.2_Missense_Mutation_p.A127S	p.A127S	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN			3	422	+			127			Interaction with PAFAH1B1 (By similarity).|Potential.		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37	c.379G>T		.	.	.	.	.	.	.	.	.	.	G	14.82	2.650990	0.47362	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.18	5.18	0.71444	.	0.050554	0.85682	D	0.000000	T	0.67126	0.2860	L	0.47716	1.5	0.80722	D	1	B;P	0.37141	0.242;0.584	B;P	0.49276	0.131;0.605	T	0.60271	-0.7296	9	0.20046	T	0.44	-37.2866	18.0781	0.89433	0.0:0.0:1.0:0.0	.	127;127	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	S	127	.	ENSP00000345892:A127S	A	+	1	0	NDE1	15679300	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.664000	0.83830	2.572000	0.86782	0.655000	0.94253	GCC		0.537	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		16	22	1	0	6.94344e-10	0.006122	8.43596e-10	16	22				
UMOD	7369	broad.mit.edu	37	16	20352544	20352544	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:20352544C>T	ENST00000570689.1	-	7	1592	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E	UMOD_ENST00000424589.1_Silent_p.E515E|UMOD_ENST00000302509.4_Silent_p.E482E|UMOD_ENST00000396142.2_Silent_p.E482E|UMOD_ENST00000396138.4_Silent_p.E531E|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396134.2_Silent_p.E515E			P07911	UROM_HUMAN	uromodulin	482	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.E482E(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGAAAAGCCTCAGTGGACA	0.607																																							uc002dgz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1444-1446)GAG>GAA		uromodulin precursor							95.0	74.0	81.0					16																	20352544		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352544C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1446G>A	16.37:g.20352544C>T						UMOD_uc002dha.2_Silent_p.E482E|UMOD_uc002dhb.2_Silent_p.E515E	p.E482E	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1575	-			482			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1446G>A	CCDS10583.1																																																																																				0.607	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			8	36	0	0	0	0.004482	0	8	36				
ACSM5	54988	broad.mit.edu	37	16	20432712	20432712	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:20432712G>T	ENST00000331849.4	+	5	903	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	252					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V252V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGTTTTGTGGCCAGCGGAA	0.592																																							uc002dhe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(754-756)GTG>GTT		acyl-CoA synthetase medium-chain family member 5							28.0	28.0	28.0					16																	20432712		2203	4299	6502	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20432712G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.756G>T	16.37:g.20432712G>T							p.V252V	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			5	903	+			252					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.756G>T	CCDS10585.1																																																																																				0.592	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		11	11	1	0	1.08611e-07	0.010729	1.244e-07	11	11				
PRKCB	5579	broad.mit.edu	37	16	24166083	24166083	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:24166083G>A	ENST00000321728.7	+	10	1319	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	PRKCB_ENST00000303531.7_Missense_Mutation_p.D382N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D382N(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GATCCAAGATGATGACGTGGA	0.537																																							uc002dmd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1144-1146)GAT>AAT		protein kinase C, beta isoform 1	Vitamin E(DB00163)						173.0	133.0	146.0					16																	24166083		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166083G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1144G>A	16.37:g.24166083G>A	ENSP00000318315:p.Asp382Asn					PRKCB_uc002dme.2_Missense_Mutation_p.D382N	p.D382N	NM_212535	NP_997700	P05771	KPCB_HUMAN			10	1341	+			382			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1144G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287555	0.95517	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.65178	-0.14;-0.14	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	N	0.11255	0.115	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.78314	0.985;0.991	T	0.72606	-0.4242	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	382;382	P05771-2;P05771	.;KPCB_HUMAN	N	382	ENSP00000318315:D382N;ENSP00000305355:D382N	ENSP00000305355:D382N	D	+	1	0	PRKCB	24073584	1.000000	0.71417	0.568000	0.28447	0.731000	0.41821	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAT		0.537	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	27	0	0	0	0.001168	0	5	27				
IL4R	3566	broad.mit.edu	37	16	27374394	27374394	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:27374394G>T	ENST00000395762.2	+	11	1980	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	IL4R_ENST00000380922.3_Missense_Mutation_p.G559V|IL4R_ENST00000543915.2_Missense_Mutation_p.G574V|IL4R_ENST00000170630.2_Missense_Mutation_p.G574V	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	574	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.G574V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCACCAGTGGCTATCAGGAG	0.642																																							uc002don.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1720-1722)GGC>GTC		interleukin 4 receptor alpha chain isoform a							26.0	32.0	30.0					16																	27374394		2196	4300	6496	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374394G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1721G>T	16.37:g.27374394G>T	ENSP00000379111:p.Gly574Val					IL4R_uc002dop.3_Missense_Mutation_p.G559V|IL4R_uc010bxy.2_Missense_Mutation_p.G574V|IL4R_uc002doo.2_Missense_Mutation_p.G414V	p.G574V	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1963	+			574			Required for IL4-induced gene expression.|Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1721G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788811	0.70337	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.20598	2.07;2.07;2.06;2.07	4.81	4.81	0.61882	.	2.315500	0.02596	N	0.100563	T	0.50429	0.1615	M	0.66939	2.045	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70227	0.968;0.968;0.968	T	0.02533	-1.1145	10	0.87932	D	0	-33.411	13.4648	0.61247	0.0:0.0:1.0:0.0	.	559;574;574	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	V	574;574;559;574	ENSP00000379111:G574V;ENSP00000441667:G574V;ENSP00000370309:G559V;ENSP00000170630:G574V	ENSP00000170630:G574V	G	+	2	0	IL4R	27281895	1.000000	0.71417	0.985000	0.45067	0.807000	0.45602	2.190000	0.42630	2.243000	0.73865	0.555000	0.69702	GGC		0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			8	27	1	0	0.000274275	0.004482	0.000291067	8	27				
SRCAP	10847	broad.mit.edu	37	16	30732519	30732519	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:30732519C>T	ENST00000262518.4	+	21	3648	c.3263C>T	c.(3262-3264)tCc>tTc	p.S1088F	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.S1088F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1088	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S1088F(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGTTGCCATCCCCCCTGGGG	0.592																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3262-3264)TCC>TTC		Snf2-related CBP activator protein							91.0	98.0	96.0					16																	30732519		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732519C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3263C>T	16.37:g.30732519C>T	ENSP00000262518:p.Ser1088Phe					SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.S945F|SRCAP_uc010bzz.1_Missense_Mutation_p.S658F	p.S1088F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3648	+			1088			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3263C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314390	0.23908	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91464	-2.85;-2.82	5.36	5.36	0.76844	.	.	.	.	.	D	0.83866	0.5347	N	0.14661	0.345	0.80722	D	1	P;P	0.43094	0.799;0.697	P;B	0.44990	0.466;0.276	T	0.82631	-0.0362	9	0.39692	T	0.17	-6.0325	9.9285	0.41507	0.0:0.9105:0.0:0.0895	.	1088;1088	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	1088	ENSP00000262518:S1088F;ENSP00000378499:S1088F	ENSP00000262518:S1088F	S	+	2	0	SRCAP	30640020	0.973000	0.33851	0.996000	0.52242	0.770000	0.43624	2.873000	0.48475	2.788000	0.95919	0.557000	0.71058	TCC		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		23	47	0	0	0	0.00632	0	23	47				
CDH1	999	broad.mit.edu	37	16	68862125	68862125	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:68862125A>G	ENST00000261769.5	+	14	2404	c.2213A>G	c.(2212-2214)aAa>aGa	p.K738R	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.K677R	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	738					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.K738R(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCGGTGGTCAAAGAGCCCTTA	0.512			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		1	Substitution - Missense(1)		lung(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(2212-2214)AAA>AGA		cadherin 1, type 1 preproprotein							117.0	108.0	111.0					16																	68862125		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68862125A>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2213A>G	16.37:g.68862125A>G	ENSP00000261769:p.Lys738Arg					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.K677R	p.K738R	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	14	2337	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	738			Cytoplasmic (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2213A>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	32	5.138258	0.94560	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.59638	0.25;0.28	6.07	6.07	0.98685	.	0.000000	0.52532	D	0.000061	T	0.78635	0.4314	M	0.82823	2.61	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.97110	0.983;1.0	T	0.81733	-0.0798	10	0.87932	D	0	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	677;738	Q9UII8;P12830	.;CADH1_HUMAN	R	738;756;677	ENSP00000261769:K738R;ENSP00000414946:K677R	ENSP00000261769:K738R	K	+	2	0	CDH1	67419626	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.149000	0.77396	2.326000	0.78906	0.533000	0.62120	AAA		0.512	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		35	34	0	0	0	0.00623	0	35	34				
HYDIN	54768	broad.mit.edu	37	16	71025199	71025199	+	Intron	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:71025199C>G	ENST00000393567.2	-	25	4015					NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E1296Q(1)|p.E1248Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTACCCTCCCCATGGAAA	0.483																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3886-3888)GAG>CAG		hydrocephalus inducing isoform a							64.0	62.0	63.0					16																	71025199		1860	4098	5958	SO:0001627	intron_variant	54768							g.chr16:71025199C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3864+21G>C	16.37:g.71025199C>G							p.E1296Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			25	4014	-		Ovarian(137;0.0654)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3886G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	4.671	0.124683	0.08931	.	.	ENSG00000157423	ENST00000316490	.	.	.	3.21	-1.03	0.10102	.	1.552660	0.05189	U	0.502792	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B	0.26483	0.15	B	0.19391	0.025	T	0.19031	-1.0318	9	0.17369	T	0.5	.	3.4487	0.07490	0.0:0.4424:0.1994:0.3583	.	1296	F8WD23	.	Q	1296	.	ENSP00000313052:E1296Q	E	-	1	0	HYDIN	69582700	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.514000	0.06298	-0.163000	0.10946	0.436000	0.28706	GAG		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	45	0	0	0	0.010729	0	6	45				
HPR	3250	broad.mit.edu	37	16	72110531	72110531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:72110531G>T	ENST00000540303.2	+	5	630	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	HPR_ENST00000228226.8_Missense_Mutation_p.V237F|HPR_ENST00000356967.5_Missense_Mutation_p.V200F|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.V200F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAAGGTGCTTGTTAATGAGAG	0.458																																							uc002fby.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)GTT>TTT		haptoglobin-related protein precursor							171.0	119.0	136.0					16																	72110531		1976	4153	6129	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110531G>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.598G>T	16.37:g.72110531G>T	ENSP00000441828:p.Val200Phe					TXNL4B_uc010cgl.2_Intron	p.V200F	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	628	+		Ovarian(137;0.125)	200			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.598G>T	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	6.642	0.486892	0.12641	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91521	-2.86;-2.86;-2.86	2.46	0.317	0.15861	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.487233	0.21293	N	0.076938	T	0.75708	0.3886	N	0.02830	-0.485	0.28505	N	0.91382	B	0.33135	0.399	B	0.38755	0.281	T	0.70204	-0.4936	10	0.72032	D	0.01	.	3.4488	0.07490	0.3892:0.2011:0.4098:0.0	.	200	P00739	HPTR_HUMAN	F	200;200;237	ENSP00000349451:V200F;ENSP00000441828:V200F;ENSP00000228226:V237F	ENSP00000228226:V237F	V	+	1	0	HP	70668032	0.000000	0.05858	0.086000	0.20670	0.604000	0.37047	-0.524000	0.06222	-0.019000	0.14055	0.194000	0.17425	GTT		0.458	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		20	32	1	0	5.03518e-11	0.007413	6.29398e-11	20	32				
ADAMTS18	170692	broad.mit.edu	37	16	77325355	77325355	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:77325355C>G	ENST00000282849.5	-	21	3628	c.3210G>C	c.(3208-3210)ttG>ttC	p.L1070F	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1070	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1070F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCTCACACCCAAACCACAGG	0.473																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3208-3210)TTG>TTC		ADAM metallopeptidase with thrombospondin type 1							161.0	164.0	163.0					16																	77325355		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325355C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3210G>C	16.37:g.77325355C>G	ENSP00000282849:p.Leu1070Phe						p.L1070F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3629	-			1070			TSP type-1 4.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3210G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	3.568	-0.088261	0.07097	.	.	ENSG00000140873	ENST00000282849	T	0.54071	0.59	5.8	2.49	0.30216	.	0.403557	0.24909	N	0.034629	T	0.35128	0.0921	L	0.43923	1.385	0.24024	N	0.996137	B	0.15719	0.014	B	0.25614	0.062	T	0.11991	-1.0565	10	0.14656	T	0.56	.	0.6978	0.00902	0.1595:0.2536:0.2889:0.298	.	1070	Q8TE60	ATS18_HUMAN	F	1070	ENSP00000282849:L1070F	ENSP00000282849:L1070F	L	-	3	2	ADAMTS18	75882856	0.436000	0.25586	0.434000	0.26772	0.740000	0.42216	0.708000	0.25719	0.743000	0.32719	-0.251000	0.11542	TTG		0.473	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			40	104	0	0	0	0.005524	0	40	104				
ZDHHC7	55625	broad.mit.edu	37	16	85010788	85010788	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr16:85010788G>A	ENST00000313732.4	-	7	1015	c.663C>T	c.(661-663)atC>atT	p.I221I	ZDHHC7_ENST00000564466.1_Silent_p.I258I|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	221					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.I258I(1)|p.I221I(1)		large_intestine(6)|lung(4)	10						GGCACAGGAAGATCAACAGGA	0.458																																							uc002fiq.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(661-663)ATC>ATT		zinc finger, DHHC-type containing 7 isoform 2							155.0	139.0	144.0					16																	85010788		2199	4300	6499	SO:0001819	synonymous_variant	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85010788G>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.663C>T	16.37:g.85010788G>A						ZDHHC7_uc010voi.1_Silent_p.I258I|ZDHHC7_uc002fir.1_RNA	p.I221I	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN			7	1016	-			221			Helical; (Potential).		D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	37	c.663C>T	CCDS10950.1																																																																																				0.458	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		3	60	0	0	0	0.004672	0	3	60				
PELP1	27043	broad.mit.edu	37	17	4576080	4576080	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:4576080C>T	ENST00000574876.1	-	16	2223	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.E646K|PELP1_ENST00000436683.2_Missense_Mutation_p.E589K|PELP1_ENST00000572293.1_Missense_Mutation_p.E786K|PELP1_ENST00000301396.4_Missense_Mutation_p.E880K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	736	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.E786K(1)|p.E880K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ATGGGGTCCTCATTTGAGCCT	0.597																																							uc002fyi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2206-2208)GAG>AAG		proline, glutamic acid and leucine rich protein							22.0	25.0	24.0					17																	4576080		1905	4111	6016	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4576080C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2206G>A	17.37:g.4576080C>T	ENSP00000461625:p.Glu736Lys					PELP1_uc010vsf.1_Missense_Mutation_p.E589K	p.E736K	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			16	2432	-			736			Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.2206G>A	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456599	0.43634	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.51574	0.83;0.7;1.44	5.2	5.2	0.72013	.	0.490233	0.18777	N	0.131424	T	0.33789	0.0875	L	0.29908	0.895	0.35899	D	0.830232	P;P	0.52842	0.956;0.956	B;B	0.40940	0.275;0.344	T	0.32640	-0.9899	10	0.06494	T	0.89	-20.2425	16.2349	0.82365	0.0:1.0:0.0:0.0	.	589;736	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	880;646;589	ENSP00000301396:E880K;ENSP00000269230:E646K;ENSP00000416231:E589K	ENSP00000269230:E646K	E	-	1	0	AC091153.1	4522829	0.211000	0.23529	0.981000	0.43875	0.982000	0.71751	2.280000	0.43443	2.420000	0.82092	0.561000	0.74099	GAG		0.597	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		5	9	0	0	0	0.000602	0	5	9				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	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		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	GRCh37	CM034930	TP53	M		c.(712-714)TGT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7577568C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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_Missense_Mutation_p.C238Y|TP53_uc002gih.2_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y	p.C238Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	17	0	0	0	0.006122	0	15	17				
ALOXE3	59344	broad.mit.edu	37	17	8012568	8012568	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:8012568G>A	ENST00000448843.2	-	12	1826	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	ALOXE3_ENST00000318227.3_Missense_Mutation_p.R628W|ALOXE3_ENST00000380149.1_Missense_Mutation_p.R652W	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	496	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R628W(1)|p.R496W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CCGCGGGCCCGCAGGCTGTCC	0.647																																							uc010cnr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(1486-1488)CGG>TGG		arachidonate lipoxygenase 3 isoform 2							59.0	54.0	56.0					17																	8012568		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8012568G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1486C>T	17.37:g.8012568G>A	ENSP00000400581:p.Arg496Trp					ALOXE3_uc002gka.2_Missense_Mutation_p.R652W|ALOXE3_uc010vuo.1_Missense_Mutation_p.R628W	p.R496W	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			12	1856	-			496			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1486C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.959667	0.74016	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.76709	-1.04;-1.04;-1.04	5.06	4.03	0.46877	Lipoxygenase, C-terminal (3);	0.392090	0.28895	N	0.013799	D	0.85199	0.5642	M	0.75264	2.295	0.27498	N	0.952065	D;D;D	0.89917	1.0;0.977;0.977	D;P;P	0.71414	0.973;0.67;0.67	T	0.77281	-0.2646	10	0.72032	D	0.01	-29.1763	9.9515	0.41642	0.0:0.1381:0.7044:0.1575	.	628;496;496	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	W	652;628;496	ENSP00000369494:R652W;ENSP00000314879:R628W;ENSP00000400581:R496W	ENSP00000314879:R628W	R	-	1	2	ALOXE3	7953293	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.069000	0.11542	2.649000	0.89929	0.556000	0.70494	CGG		0.647	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			16	11	0	0	0	0.00499	0	16	11				
MYH8	4626	broad.mit.edu	37	17	10310251	10310251	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:10310251G>A	ENST00000403437.2	-	18	2105	c.2011C>T	c.(2011-2013)Cac>Tac	p.H671Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	671	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.H671Y(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTACGAAGTGAGGGTGTGTG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2011-2013)CAC>TAC		myosin, heavy chain 8, skeletal muscle,							96.0	88.0	91.0					17																	10310251		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310251G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2011C>T	17.37:g.10310251G>A	ENSP00000384330:p.His671Tyr					uc002gml.1_Intron	p.H671Y	NM_002472	NP_002463	P13535	MYH8_HUMAN			18	2106	-			671			Actin-binding.|Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2011C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604100	0.87157	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.74526	-0.85	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.43416	U	0.000579	D	0.88768	0.6526	M	0.89601	3.045	0.80722	D	1	D	0.59767	0.986	D	0.71656	0.974	D	0.90605	0.4547	10	0.66056	D	0.02	.	18.6502	0.91428	0.0:0.0:1.0:0.0	.	671	P13535	MYH8_HUMAN	Y	671	ENSP00000384330:H671Y	ENSP00000252173:H671Y	H	-	1	0	MYH8	10250976	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.503000	0.97984	2.652000	0.90054	0.650000	0.86243	CAC		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	44	0	0	0	0.006214	0	8	44				
MYH2	4620	broad.mit.edu	37	17	10450921	10450921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:10450921C>A	ENST00000245503.5	-	4	603	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K73N|MYH2_ENST00000532183.2_Missense_Mutation_p.K73N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	73					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K73N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTGATCATCCTTCACTGTCA	0.433																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(217-219)AAG>AAT		myosin heavy chain IIa							282.0	248.0	259.0					17																	10450921		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10450921C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.219G>T	17.37:g.10450921C>A	ENSP00000245503:p.Lys73Asn					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K73N|MYH2_uc010coj.2_Missense_Mutation_p.K73N	p.K73N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			4	347	-			73			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.219G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429948	0.43122	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.95	2.79	0.32731	Myosin, N-terminal, SH3-like (1);	0.000000	0.41194	U	0.000930	D	0.86091	0.5850	M	0.76574	2.34	0.49582	D	0.999808	P;B	0.35033	0.481;0.0	P;B	0.45310	0.476;0.018	D	0.83773	0.0221	10	0.62326	D	0.03	.	6.4311	0.21796	0.0:0.627:0.0:0.3729	.	73;73	Q567P6;Q9UKX2	.;MYH2_HUMAN	N	73	ENSP00000433944:K73N;ENSP00000245503:K73N;ENSP00000380367:K73N;ENSP00000399348:K73N;ENSP00000416072:K73N	ENSP00000245503:K73N	K	-	3	2	MYH2	10391646	0.934000	0.31675	0.998000	0.56505	0.996000	0.88848	0.062000	0.14389	0.700000	0.31782	0.650000	0.86243	AAG		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		51	35	1	0	2.31418e-15	0.01441	3.10949e-15	51	35				
RNF112	7732	broad.mit.edu	37	17	19316938	19316938	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:19316938A>T	ENST00000461366.1	+	6	984	c.769A>T	c.(769-771)Agc>Tgc	p.S257C	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	257	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S257C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCCTGAGCTGAGCAGGGAAAC	0.617																																							uc010vyw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(769-771)AGC>TGC		ring finger protein 112							64.0	72.0	69.0					17																	19316938		2148	4256	6404	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316938A>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.769A>T	17.37:g.19316938A>T	ENSP00000454919:p.Ser257Cys					RNF112_uc010vyv.1_Missense_Mutation_p.S257C|RNF112_uc010vyx.1_Missense_Mutation_p.S140C	p.S257C	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			6	968	+			257					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.769A>T	CCDS58529.1																																																																																				0.617	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		9	9	0	0	0	0.006214	0	9	9				
KSR1	8844	broad.mit.edu	37	17	25932628	25932628	+	Nonsense_Mutation	SNP	G	G	T	rs372634021		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:25932628G>T	ENST00000319524.6	+	15	1849	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	KSR1_ENST00000268763.6_Nonsense_Mutation_p.E480*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.E595*|KSR1_ENST00000398988.3_Nonsense_Mutation_p.E480*			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E617*(1)|p.E595*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAGCTGGGCGAGCCCATCGG	0.711																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(3)|central_nervous_system(1)	4						c.(1438-1440)GAG>TAG		kinase suppressor of ras							10.0	13.0	12.0					17																	25932628		1924	4106	6030	SO:0001587	stop_gained	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932628G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1849G>T	17.37:g.25932628G>T	ENSP00000323178:p.Glu617*					KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Nonsense_Mutation_p.E259*	p.E480*	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	15	1883	+	Lung NSC(42;0.00836)		615			Protein kinase.		F8WEA9|H7BYU0|Q13476	Nonsense_Mutation	SNP	ENST00000319524.6	37	c.1438G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.508500|9.508500	0.99190|0.99190	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.043741|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75177	.|0.3814	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72978	.|-0.4127	.|3	0.31617|.	T|.	0.26|.	.|.	18.7549|18.7549	0.91828|0.91828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	617;595;480;480|330	.|.	ENSP00000268763:E480X|.	E|R	+|+	1|2	0|0	KSR1|KSR1	22956755|22956755	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.972000|0.972000	0.66771|0.66771	9.715000|9.715000	0.98748|0.98748	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.711	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	7	1	0	1.024e-07	0.000602	1.18067e-07	4	7				
LASP1	3927	broad.mit.edu	37	17	37071325	37071325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:37071325G>T	ENST00000318008.6	+	6	869	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	LASP1_ENST00000433206.2_Missense_Mutation_p.A124S|LASP1_ENST00000435347.3_Missense_Mutation_p.A180S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	180					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)	p.A180S(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GCAGCCGGTGGCCCAGTCCTA	0.647			T	MLL	AML																																		uc002hra.2		NA		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(538-540)GCC>TCC		LIM and SH3 protein 1							58.0	66.0	64.0					17																	37071325		2203	4294	6497	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37071325G>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.538G>T	17.37:g.37071325G>T	ENSP00000325240:p.Ala180Ser					LASP1_uc010cvq.2_Missense_Mutation_p.W57C|LASP1_uc010wdz.1_Missense_Mutation_p.A124S	p.A180S	NM_006148	NP_006139	Q14847	LASP1_HUMAN			6	869	+			180					B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.538G>T	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	4.829	0.154152	0.09236	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	T;T;T;T	0.38560	1.23;1.13;1.23;2.8	5.12	1.44	0.22558	Src homology-3 domain (1);	1.000150	0.08070	N	0.999696	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31364	-0.9946	10	0.06365	T	0.9	.	2.8906	0.05675	0.3137:0.0:0.3681:0.3182	.	124;180	B4DGQ0;Q14847	.;LASP1_HUMAN	S	180;124;180;144	ENSP00000325240:A180S;ENSP00000401048:A124S;ENSP00000392853:A180S;ENSP00000391897:A144S	ENSP00000325240:A180S	A	+	1	0	LASP1	34324851	0.117000	0.22190	0.362000	0.25862	0.944000	0.59088	0.926000	0.28804	0.395000	0.25257	0.462000	0.41574	GCC		0.647	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		18	94	1	0	6.44725e-10	0.014323	7.85145e-10	18	94				
KRT34	3885	broad.mit.edu	37	17	39538048	39538048	+	Splice_Site	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:39538048C>T	ENST00000394001.1	-	2	505		c.e2-1			NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34						epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CACACAGAATCTGAAAAGAAA	0.483																																							uc002hwm.2		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e2-1		keratin 34							71.0	70.0	70.0					17																	39538048		2203	4300	6503	SO:0001630	splice_region_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538048C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.475-1G>A	17.37:g.39538048C>T							p.I159_splice	NM_021013	NP_066293	O76011	KRT34_HUMAN			2	487	-		Breast(137;0.000496)						Q8IUT8|Q8N4W2	Splice_Site	SNP	ENST00000394001.1	37	c.475_splice	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476149	0.44044	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4843	0.90823	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT34	36791574	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.392000	0.66272	2.611000	0.88343	0.650000	0.86243	.		0.483	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	Intron	19	32	0	0	0	0.008871	0	19	32				
AOC2	314	broad.mit.edu	37	17	40996835	40996835	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:40996835G>C	ENST00000253799.3	+	1	219	c.192G>C	c.(190-192)ttG>ttC	p.L64F	AOC2_ENST00000452774.2_Missense_Mutation_p.L64F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	64					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L64F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGAGGAGTTGACAGCTGTGA	0.657																																							uc002ibu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(190-192)TTG>TTC		amine oxidase, copper containing 2 isoform b							143.0	155.0	151.0					17																	40996835		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996835G>C	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.192G>C	17.37:g.40996835G>C	ENSP00000253799:p.Leu64Phe					AOC2_uc002ibt.2_Missense_Mutation_p.L64F	p.L64F	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	227	+		Breast(137;0.000143)	64					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.192G>C	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795007	0.31777	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.63913	-0.07;-0.07	5.13	4.17	0.49024	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.159695	0.43747	D	0.000529	T	0.76543	0.4002	M	0.80746	2.51	0.47949	D	0.999555	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.966	T	0.77135	-0.2699	10	0.49607	T	0.09	-40.0111	9.0039	0.36100	0.0742:0.0:0.7799:0.1458	.	64;64	O75106;O75106-2	AOC2_HUMAN;.	F	64	ENSP00000253799:L64F;ENSP00000406134:L64F	ENSP00000253799:L64F	L	+	3	2	AOC2	38250361	0.992000	0.36948	0.920000	0.36463	0.147000	0.21601	2.248000	0.43160	1.415000	0.47037	-0.122000	0.15005	TTG		0.657	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		64	238	0	0	0	0.01441	0	64	238				
LRRC37A2	474170	broad.mit.edu	37	17	44626163	44626163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:44626163C>T	ENST00000576629.1	+	10	4153	c.3658C>T	c.(3658-3660)Cag>Tag	p.Q1220*	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.Q1220*			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1220						integral component of membrane (GO:0016021)		p.Q1220*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCCCCACACACAGCAGGGGCC	0.582																																							uc002ikn.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(3658-3660)CAG>TAG		c114 SLIT-like testicular protein precursor							55.0	100.0	85.0					17																	44626163		2188	4299	6487	SO:0001587	stop_gained	474170					integral to membrane		g.chr17:44626163C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3658C>T	17.37:g.44626163C>T	ENSP00000459551:p.Gln1220*					ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Nonsense_Mutation_p.Q181*|LRRC37A2_uc010dax.1_Nonsense_Mutation_p.Q150*	p.Q1220*	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3661	+		Melanoma(429;0.211)	1220			Extracellular (Potential).		B7ZMC3	Nonsense_Mutation	SNP	ENST00000576629.1	37	c.3658C>T	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	c	41	9.007531	0.99035	.	.	ENSG00000238083	ENST00000333412	.	.	.	2.96	-0.323	0.12709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	3.0979	0.06315	0.2831:0.2362:0.4807:0.0	.	.	.	.	X	1220	.	ENSP00000333071:Q1220X	Q	+	1	0	LRRC37A2	41981479	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.087000	0.11215	0.135000	0.18707	-1.382000	0.01172	CAG		0.582	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		19	133	0	0	0	0.014323	0	19	133				
EFCAB3	146779	broad.mit.edu	37	17	60484419	60484419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:60484419C>A	ENST00000305286.3	+	8	791	c.713C>A	c.(712-714)tCa>tAa	p.S238*	EFCAB3_ENST00000450662.2_Nonsense_Mutation_p.S290*	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	238							calcium ion binding (GO:0005509)	p.S238*(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGCCCATATTCAAAAATACCC	0.368																																							uc002izu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(712-714)TCA>TAA		EF-hand calcium binding domain 3 isoform b							122.0	121.0	121.0					17																	60484419		2203	4300	6503	SO:0001587	stop_gained	146779						calcium ion binding	g.chr17:60484419C>A	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.713C>A	17.37:g.60484419C>A	ENSP00000302649:p.Ser238*					EFCAB3_uc010wpc.1_Nonsense_Mutation_p.S290*	p.S238*	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		8	791	+			238					J3KQM8	Nonsense_Mutation	SNP	ENST00000305286.3	37	c.713C>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090829	0.55968	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	.	.	.	5.79	5.79	0.91817	.	0.140519	0.31859	N	0.006946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	15.5371	0.76013	0.0:1.0:0.0:0.0	.	.	.	.	X	290;238	.	ENSP00000302649:S238X	S	+	2	0	EFCAB3	57838151	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	4.014000	0.57145	2.746000	0.94184	0.460000	0.39030	TCA		0.368	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		17	82	1	0	1.33834e-09	0.007413	1.61096e-09	17	82				
MAP3K3	4215	broad.mit.edu	37	17	61744398	61744398	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:61744398C>T	ENST00000361733.3	+	6	800	c.480C>T	c.(478-480)ccC>ccT	p.P160P	MAP3K3_ENST00000577395.1_Silent_p.P160P|MAP3K3_ENST00000584573.1_Silent_p.P191P|MAP3K3_ENST00000579585.1_Silent_p.P191P|MAP3K3_ENST00000361357.3_Silent_p.P191P	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	160					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.P160P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCCCCGAGCCCAGAAGCAGGC	0.478																																							uc002jbg.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						c.(478-480)CCC>CCT		mitogen-activated protein kinase kinase kinase 3							69.0	67.0	68.0					17																	61744398		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61744398C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.480C>T	17.37:g.61744398C>T						MAP3K3_uc002jbe.2_Silent_p.P191P|MAP3K3_uc002jbf.2_Silent_p.P191P|MAP3K3_uc002jbh.2_Silent_p.P191P|MAP3K3_uc010wpo.1_Silent_p.P75P|MAP3K3_uc010wpp.1_Silent_p.P160P	p.P160P	NM_002401	NP_002392	Q99759	M3K3_HUMAN			6	799	+			160					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.480C>T	CCDS32702.1																																																																																				0.478	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		12	41	0	0	0	0.013537	0	12	41				
ABCA8	10351	broad.mit.edu	37	17	66928614	66928614	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:66928614A>T	ENST00000269080.2	-	6	749	c.612T>A	c.(610-612)gtT>gtA	p.V204V	ABCA8_ENST00000586539.1_Silent_p.V204V|ABCA8_ENST00000430352.2_Silent_p.V204V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	204					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V204V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTTTCCAGTAACTGACATCA	0.338																																							uc002jhp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(610-612)GTT>GTA		ATP-binding cassette, sub-family A member 8							99.0	96.0	97.0					17																	66928614		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928614A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.612T>A	17.37:g.66928614A>T						ABCA8_uc002jhq.2_Silent_p.V204V|ABCA8_uc010wqq.1_Silent_p.V204V|ABCA8_uc010wqr.1_Silent_p.V143V|ABCA8_uc002jhr.2_Silent_p.V204V|ABCA8_uc002jhs.2_Silent_p.V204V|ABCA8_uc002jht.2_Silent_p.V204V	p.V204V	NM_007168	NP_009099	O94911	ABCA8_HUMAN			6	791	-	Breast(10;4.56e-13)		204					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.612T>A	CCDS11680.1																																																																																				0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		16	65	0	0	0	0.007413	0	16	65				
SDK2	54549	broad.mit.edu	37	17	71427796	71427796	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:71427796A>T	ENST00000392650.3	-	11	1325	c.1325T>A	c.(1324-1326)tTg>tAg	p.L442*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.L442*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	442	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L442*(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCACTGGCCAAGATGCGCTC	0.672																																							uc010dfm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1324-1326)TTG>TAG		sidekick 2							48.0	46.0	46.0					17																	71427796		2203	4300	6503	SO:0001587	stop_gained	54549				cell adhesion	integral to membrane		g.chr17:71427796A>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1325T>A	17.37:g.71427796A>T	ENSP00000376421:p.Leu442*					SDK2_uc010dfn.2_Nonsense_Mutation_p.L121*	p.L442*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1325	-			442			Ig-like C2-type 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	ENST00000392650.3	37	c.1325T>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	38	6.872235	0.97901	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.	.	.	4.75	3.62	0.41486	.	0.393867	0.23327	N	0.049399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9538	0.47345	0.8425:0.1575:0.0:0.0	.	.	.	.	X	66;442;442;442	.	ENSP00000324967:L442X	L	-	2	0	SDK2	68939391	1.000000	0.71417	0.744000	0.31058	0.718000	0.41266	8.469000	0.90395	0.617000	0.30160	0.383000	0.25322	TTG		0.672	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	27	0	0	0	0.001984	0	3	27				
TTYH2	94015	broad.mit.edu	37	17	72209803	72209803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:72209803G>C	ENST00000269346.4	+	1	151	c.77G>C	c.(76-78)cGc>cCc	p.R26P	CTD-2514K5.2_ENST00000499670.2_RNA|CTD-2514K5.2_ENST00000531617.1_RNA|CTD-2514K5.2_ENST00000532794.1_RNA|TTYH2_ENST00000529107.1_5'Flank	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	26						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R26P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GTCGGCCTGCGCCTGCAGCCC	0.697																																							uc002jkc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(76-78)CGC>CCC		tweety 2 isoform 1							42.0	39.0	40.0					17																	72209803		2202	4298	6500	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72209803G>C		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.77G>C	17.37:g.72209803G>C	ENSP00000269346:p.Arg26Pro					TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank	p.R26P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			1	108	+			26			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.77G>C	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506103	0.64410	.	.	ENSG00000141540	ENST00000269346	T	0.09817	2.94	3.38	2.4	0.29515	.	0.000000	0.64402	U	0.000010	T	0.12135	0.0295	L	0.55481	1.735	0.80722	D	1	P	0.42649	0.786	P	0.44359	0.447	T	0.03673	-1.1014	10	0.52906	T	0.07	-16.9187	5.3566	0.16065	0.2673:0.0:0.7327:0.0	.	26	Q9BSA4	TTYH2_HUMAN	P	26	ENSP00000269346:R26P	ENSP00000269346:R26P	R	+	2	0	TTYH2	69721398	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	3.576000	0.53878	0.618000	0.30179	0.543000	0.68304	CGC		0.697	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			3	11	0	0	0	0.009096	0	3	11				
SEC14L1	6397	broad.mit.edu	37	17	75196674	75196674	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:75196674G>C	ENST00000413679.2	+	9	1231	c.928G>C	c.(928-930)Gta>Cta	p.V310L	SEC14L1_ENST00000431431.2_Missense_Mutation_p.V276L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V310L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V310L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V310L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V276L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V310L|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V310L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	310					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V310L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCAGCATCAGGTAGACTACAT	0.483																																							uc002jto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(928-930)GTA>CTA		SEC14 (S. cerevisiae)-like 1 isoform a							145.0	136.0	139.0					17																	75196674		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75196674G>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.928G>C	17.37:g.75196674G>C	ENSP00000394716:p.Val310Leu					SEC14L1_uc010dhc.2_Missense_Mutation_p.V310L|SEC14L1_uc010wth.1_Missense_Mutation_p.V310L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V310L|SEC14L1_uc010wti.1_Missense_Mutation_p.V276L	p.V310L	NM_003003	NP_002994	Q92503	S14L1_HUMAN			9	1195	+			310					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.928G>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875244	0.91664	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.73258	-0.61;-0.61;-0.61;-0.61;-0.61;-0.73	5.41	5.41	0.78517	Cellular retinaldehyde-binding/triple function, C-terminal (1);Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	M	0.64170	1.965	0.80722	D	1	P;P	0.44260	0.83;0.739	B;B	0.41510	0.359;0.196	T	0.72707	-0.4212	10	0.41790	T	0.15	-35.635	18.549	0.91057	0.0:0.0:1.0:0.0	.	310;310	Q92503-2;Q92503	.;S14L1_HUMAN	L	310;310;310;310;310;276	ENSP00000376268:V310L;ENSP00000406030:V310L;ENSP00000390392:V310L;ENSP00000408169:V310L;ENSP00000394716:V310L;ENSP00000389838:V276L	ENSP00000376268:V310L	V	+	1	0	SEC14L1	72708269	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.437000	0.97535	2.687000	0.91594	0.655000	0.94253	GTA		0.483	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		50	60	0	0	0	0.01441	0	50	60				
EPB41L3	23136	broad.mit.edu	37	18	5489094	5489094	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:5489094C>A	ENST00000341928.2	-	2	429	c.89G>T	c.(88-90)gGg>gTg	p.G30V	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G30V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G30V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G30V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G30V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	30					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G30V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAcgggcgcccccgcgcgccc	0.721																																							uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(88-90)GGG>GTG		erythrocyte membrane protein band 4.1-like 3																																				SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489094C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.89G>T	18.37:g.5489094C>A	ENSP00000343158:p.Gly30Val					EPB41L3_uc010wzh.1_Missense_Mutation_p.G30V|EPB41L3_uc002kmu.1_Missense_Mutation_p.G30V|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.G52V|EPB41L3_uc002kmv.1_5'UTR	p.G30V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	175	-			30					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.89G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212781	0.39102	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	T;D;T;D	0.82255	-1.4;-1.55;-1.4;-1.59	5.38	3.51	0.40186	.	1.444510	0.03821	N	0.267564	D	0.90106	0.6909	M	0.62723	1.935	0.52501	D	0.999955	D;B;B;B	0.89917	1.0;0.02;0.288;0.19	D;B;B;B	0.91635	0.999;0.034;0.177;0.086	T	0.75150	-0.3419	10	0.40728	T	0.16	.	9.7441	0.40435	0.1486:0.5639:0.2875:0.0	.	30;30;30;30	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	V	30;30;30;30;111	ENSP00000343158:G30V;ENSP00000441174:G30V;ENSP00000341138:G30V;ENSP00000382981:G30V	ENSP00000343158:G30V	G	-	2	0	EPB41L3	5479094	0.920000	0.31207	0.092000	0.20876	0.070000	0.16714	1.488000	0.35551	0.585000	0.29608	0.563000	0.77884	GGG		0.721	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		17	17	1	0	5.01169e-05	0.00499	5.41805e-05	17	17				
KLHL14	57565	broad.mit.edu	37	18	30260371	30260371	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30260371C>A	ENST00000359358.4	-	6	1868		c.e6+1			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.?(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAATTACTTGCCTGAAATGTA	0.438																																							uc002kxm.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e6+1		kelch-like 14							123.0	122.0	122.0					18																	30260371		2203	4300	6503	SO:0001630	splice_region_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260371C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1429+1G>T	18.37:g.30260371C>A						KLHL14_uc010dmd.1_Missense_Mutation_p.A25S	p.G477_splice	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			6	1817	-								A6NNW1|B4DHA0|Q8WU41	Splice_Site	SNP	ENST00000359358.4	37	c.1429_splice	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278278	0.80692	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL14	28514369	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	.		0.438	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		Intron	71	66	1	0	1.65906e-26	0.01441	2.4862e-26	71	66				
CCDC178	374864	broad.mit.edu	37	18	30806759	30806759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30806759G>A	ENST00000383096.3	-	16	1836	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q552*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q552*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	552								p.Q552*(2)									AGTATTACCTGAAGCACCATT	0.323																																							uc002kxn.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1654-1656)CAG>TAG		hypothetical protein LOC374864 isoform 1							69.0	70.0	70.0					18																	30806759		2203	4300	6503	SO:0001587	stop_gained	374864							g.chr18:30806759G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1654C>T	18.37:g.30806759G>A	ENSP00000372576:p.Gln552*					C18orf34_uc010dme.1_Nonsense_Mutation_p.Q66*|C18orf34_uc010xbr.1_Nonsense_Mutation_p.Q552*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q552*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.Q552*	p.Q552*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			15	1796	-			552					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.1654C>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	38	6.741061	0.97805	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	5.16	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.9695	11.5168	0.50526	0.0:0.0:0.8214:0.1786	.	.	.	.	X	552	.	ENSP00000300227:Q552X	Q	-	1	0	C18orf34	29060757	1.000000	0.71417	0.996000	0.52242	0.602000	0.36980	2.707000	0.47143	2.557000	0.86248	0.655000	0.94253	CAG		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		11	42	0	0	0	0.010729	0	11	42				
CCDC178	374864	broad.mit.edu	37	18	30873253	30873253	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:30873253C>A	ENST00000383096.3	-	12	1228	c.1046G>T	c.(1045-1047)aGt>aTt	p.S349I	CCDC178_ENST00000406524.2_Missense_Mutation_p.S349I|CCDC178_ENST00000403303.1_Missense_Mutation_p.S349I|CCDC178_ENST00000402325.1_Missense_Mutation_p.S349I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.S349I|CCDC178_ENST00000583930.1_Missense_Mutation_p.S349I|CCDC178_ENST00000579947.1_Missense_Mutation_p.S349I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	349								p.S349I(2)									ATCAAATAGACTGTTAAGTTG	0.299																																							uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1045-1047)AGT>ATT		hypothetical protein LOC374864 isoform 1							89.0	84.0	86.0					18																	30873253		2196	4288	6484	SO:0001583	missense	374864							g.chr18:30873253C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1046G>T	18.37:g.30873253C>A	ENSP00000372576:p.Ser349Ile					C18orf34_uc010xbr.1_Missense_Mutation_p.S349I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S349I|C18orf34_uc002kxp.2_Missense_Mutation_p.S349I	p.S349I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			11	1188	-			349			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1046G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	4.023	0.001826	0.07819	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	3.59	-7.17	0.01511	.	.	.	.	.	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.32620	0.378;0.007;0.002;0.002	B;B;B;B	0.34931	0.192;0.002;0.002;0.002	T	0.09907	-1.0653	9	0.40728	T	0.16	9.2112	1.3904	0.02249	0.3312:0.3444:0.1116:0.2129	.	349;349;349;349	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	349	ENSP00000385591:S349I;ENSP00000372576:S349I;ENSP00000300227:S349I;ENSP00000385867:S349I;ENSP00000385234:S349I	ENSP00000300227:S349I	S	-	2	0	C18orf34	29127251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.895000	0.01606	-2.963000	0.00289	-0.658000	0.03865	AGT		0.299	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	23	1	0	4.14922e-12	0.004007	5.34058e-12	14	23				
ASXL3	80816	broad.mit.edu	37	18	31314323	31314324	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31314323_31314324GG>CT	ENST00000269197.5	+	10	1026_1027	c.1026_1027GG>CT	c.(1024-1029)aaGGaa>aaCTaa	p.342_343KE>N*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	342					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.K342_E343>N*(1)|p.K49_E50>N*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATTGAGAAGGAAAAGAAAAC	0.327																																							uc010dmg.1		NA																	2	Complex - compound substitution(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1024-1029)AAGGAA>AACTAA		additional sex combs like 3																																				SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31314323_31314324GG>CT	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		Exception_encountered	18.37:g.31314323_31314324delinsCT	ENSP00000269197:p.K342_E343delinsN*					ASXL3_uc002kxq.2_Nonsense_Mutation_p.49_50KE>N*	p.342_343KE>N*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			10	1081_1082	+			342_343					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	DNP	ENST00000269197.5	37	c.1026_1027GG>CT	CCDS45847.1																																																																																				0.327	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	16	0	0	0	0.004672	0	8	16				
ASXL3	80816	broad.mit.edu	37	18	31323015	31323015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31323015G>T	ENST00000269197.5	+	12	3203	c.3203G>T	c.(3202-3204)cGa>cTa	p.R1068L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1068	Ala-rich.				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.R775L(1)|p.R1068L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGGGCCCAGCGAGAGGCTGCT	0.617																																							uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3202-3204)CGA>CTA		additional sex combs like 3							22.0	24.0	24.0					18																	31323015		1858	4083	5941	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323015G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3203G>T	18.37:g.31323015G>T	ENSP00000269197:p.Arg1068Leu					ASXL3_uc002kxq.2_Missense_Mutation_p.R775L	p.R1068L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3258	+			1068			Ala-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3203G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103861	0.76983	.	.	ENSG00000141431	ENST00000269197	T	0.56776	0.44	5.9	5.04	0.67666	.	0.858943	0.09929	N	0.737425	T	0.72953	0.3525	M	0.69358	2.11	0.41614	D	0.988926	D	0.89917	1.0	D	0.85130	0.997	T	0.69011	-0.5258	10	0.87932	D	0	.	15.0365	0.71751	0.0687:0.0:0.9313:0.0	.	1068	Q9C0F0	ASXL3_HUMAN	L	1068	ENSP00000269197:R1068L	ENSP00000269197:R1068L	R	+	2	0	ASXL3	29577013	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.369000	0.79578	1.506000	0.48736	-0.133000	0.14855	CGA		0.617	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			9	11	1	0	1.08611e-07	0.010729	1.244e-07	9	11				
ASXL3	80816	broad.mit.edu	37	18	31324969	31324969	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:31324969T>A	ENST00000269197.5	+	12	5157	c.5157T>A	c.(5155-5157)gcT>gcA	p.A1719A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1719					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.A1719A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGAAGAGGCTATTTCCTTGG	0.572																																							uc010dmg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5155-5157)GCT>GCA		additional sex combs like 3							77.0	80.0	79.0					18																	31324969		2028	4206	6234	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324969T>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5157T>A	18.37:g.31324969T>A						ASXL3_uc002kxq.2_Silent_p.A1426A	p.A1719A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5212	+			1719					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5157T>A	CCDS45847.1																																																																																				0.572	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			13	39	0	0	0	0.013537	0	13	39				
TCEB3B	51224	broad.mit.edu	37	18	44561102	44561102	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:44561102G>T	ENST00000332567.4	-	1	886	c.534C>A	c.(532-534)ctC>ctA	p.L178L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	178					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L178L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGGCATCCGGAGGGGAGCTG	0.692																																							uc002lcr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(532-534)CTC>CTA		elongin A2							31.0	38.0	35.0					18																	44561102		2198	4290	6488	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561102G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.534C>A	18.37:g.44561102G>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.L178L	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	887	-			178					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.534C>A	CCDS11932.1																																																																																				0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		26	42	1	0	1.61788e-16	0.012213	2.20235e-16	26	42				
ME2	4200	broad.mit.edu	37	18	48439200	48439200	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:48439200G>C	ENST00000321341.5	+	4	544	c.272G>C	c.(271-273)aGa>aCa	p.R91T	ME2_ENST00000382927.3_Missense_Mutation_p.R91T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	91					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.R91T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATACAAGAAAGAAATGAGAAA	0.348																																							uc002ley.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(271-273)AGA>ACA		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						99.0	103.0	102.0					18																	48439200		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439200G>C	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.272G>C	18.37:g.48439200G>C	ENSP00000321070:p.Arg91Thr					ME2_uc010dpd.2_Missense_Mutation_p.R91T	p.R91T	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	528	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	91	R->T: Abolishes activation by fumarate.			Allosteric activator.	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.272G>C	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055681	0.93793	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.47177	0.85;0.85	5.58	5.58	0.84498	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.58302	1.8	0.80722	D	1	P;D	0.65815	0.66;0.995	P;D	0.67103	0.86;0.949	T	0.56050	-0.8043	10	0.25106	T	0.35	-29.047	18.7159	0.91675	0.0:0.0:1.0:0.0	.	91;91	Q9BWL6;P23368	.;MAOM_HUMAN	T	91	ENSP00000321070:R91T;ENSP00000372384:R91T	ENSP00000321070:R91T	R	+	2	0	ME2	46693198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.755000	0.98912	2.782000	0.95742	0.655000	0.94253	AGA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		20	81	0	0	0	0.008871	0	20	81				
BCL2	596	broad.mit.edu	37	18	60985525	60985525	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:60985525G>A	ENST00000398117.1	-	1	1836	c.375C>T	c.(373-375)acC>acT	p.T125T	BCL2_ENST00000589955.1_Silent_p.T125T|BCL2_ENST00000333681.4_Silent_p.T125T|BCL2_ENST00000444484.1_Silent_p.T125T	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	125					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.T125T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GTCCCCGCGCGGTGAAGGGCG	0.667			T	IGH@	"""NHL, CLL"""																																		uc002lit.1		NA		Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(373-375)ACC>ACT		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						85.0	99.0	94.0					18																	60985525		2203	4300	6503	SO:0001819	synonymous_variant	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60985525G>A	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.375C>T	18.37:g.60985525G>A						BCL2_uc002liu.1_Silent_p.T125T|BCL2_uc002liv.1_Silent_p.T125T	p.T125T	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	2	868	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	125					C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	c.375C>T	CCDS11981.1																																																																																				0.667	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		9	51	0	0	0	0.008291	0	9	51				
CDH19	28513	broad.mit.edu	37	18	64178894	64178894	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:64178894C>T	ENST00000262150.2	-	10	1779	c.1487G>A	c.(1486-1488)aGa>aAa	p.R496K	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	605	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R496K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGATTCATCTCTATCCACTGC	0.318																																							uc002lkc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1486-1488)AGA>AAA		cadherin 19, type 2 preproprotein							87.0	87.0	87.0					18																	64178894		2203	4298	6501	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178894C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1487G>A	18.37:g.64178894C>T	ENSP00000262150:p.Arg496Lys					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.R496K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1625	-		Esophageal squamous(42;0.0132)	496			Cadherin 5.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1487G>A	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795113	0.31777	.	.	ENSG00000071991	ENST00000262150	T	0.49432	0.78	5.03	3.24	0.37175	Cadherin (4);Cadherin-like (1);	0.394447	0.28908	N	0.013755	T	0.25717	0.0626	N	0.16743	0.435	0.80722	D	1	B	0.14805	0.011	B	0.24974	0.057	T	0.10776	-1.0615	10	0.02654	T	1	.	8.1634	0.31211	0.0:0.6835:0.0:0.3165	.	496	Q9H159	CAD19_HUMAN	K	496	ENSP00000262150:R496K	ENSP00000262150:R496K	R	-	2	0	CDH19	62329874	0.932000	0.31603	0.998000	0.56505	0.949000	0.60115	0.253000	0.18296	0.815000	0.34398	0.585000	0.79938	AGA		0.318	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		16	61	0	0	0	0.00499	0	16	61				
CBLN2	147381	broad.mit.edu	37	18	70209225	70209225	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:70209225G>A	ENST00000269503.4	-	3	944	c.171C>T	c.(169-171)ccC>ccT	p.P57P	CBLN2_ENST00000585159.1_Silent_p.P57P|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	57					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.P57P(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CCAGCACGATGGGCTCCGTGT	0.731																																							uc002lku.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(169-171)CCC>CCT		cerebellin 2 precursor							27.0	26.0	27.0					18																	70209225		2201	4297	6498	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209225G>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.171C>T	18.37:g.70209225G>A						CBLN2_uc002lkv.2_Silent_p.P57P	p.P57P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	406	-		Esophageal squamous(42;0.131)	57					Q53Z56	Silent	SNP	ENST00000269503.4	37	c.171C>T	CCDS11999.1																																																																																				0.731	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		5	13	0	0	0	0.000602	0	5	13				
SALL3	27164	broad.mit.edu	37	18	76753481	76753481	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:76753481T>G	ENST00000537592.2	+	2	1490	c.1490T>G	c.(1489-1491)aTc>aGc	p.I497S	SALL3_ENST00000536229.3_Missense_Mutation_p.I364S|SALL3_ENST00000575389.2_Missense_Mutation_p.I497S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	497					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.I497S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCTCGGGCATCCCCTACGGC	0.652																																							uc002lmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1489-1491)ATC>AGC		sal-like 3							43.0	38.0	40.0					18																	76753481		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753481T>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1490T>G	18.37:g.76753481T>G	ENSP00000441823:p.Ile497Ser					SALL3_uc010dra.2_Missense_Mutation_p.I104S	p.I497S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1490	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	497					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1490T>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	9.851	1.193731	0.22037	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10573	2.86	4.87	4.87	0.63330	.	0.000000	0.56097	D	0.000022	T	0.34366	0.0895	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.83275	0.917;0.996	T	0.15235	-1.0444	10	0.87932	D	0	-29.6674	14.6605	0.68868	0.0:0.0:0.0:1.0	.	229;497	F5GXY4;Q9BXA9	.;SALL3_HUMAN	S	497;497;229	ENSP00000441823:I497S	ENSP00000299466:I497S	I	+	2	0	SALL3	74854469	1.000000	0.71417	0.089000	0.20774	0.594000	0.36715	7.803000	0.85983	2.044000	0.60594	0.460000	0.39030	ATC		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		13	8	0	0	0	0.013537	0	13	8				
CTDP1	9150	broad.mit.edu	37	18	77455253	77455253	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr18:77455253A>T	ENST00000299543.7	+	2	490	c.343A>T	c.(343-345)Agc>Tgc	p.S115C	CTDP1_ENST00000075430.7_Missense_Mutation_p.S115C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	115					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.S115C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGAAGGATGCAGCCACCCGGT	0.498																																							uc002lnh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)AGC>TGC		CTD (carboxy-terminal domain, RNA polymerase II,							131.0	114.0	120.0					18																	77455253		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77455253A>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.343A>T	18.37:g.77455253A>T	ENSP00000299543:p.Ser115Cys					CTDP1_uc002lni.1_Missense_Mutation_p.S115C|CTDP1_uc010drd.1_Missense_Mutation_p.S115C	p.S115C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	2	490	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	115					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.343A>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638249	0.29157	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.12039	2.76;2.72	4.8	4.8	0.61643	.	0.172021	0.64402	D	0.000007	T	0.18215	0.0437	L	0.58101	1.795	0.46774	D	0.999198	B;B	0.33777	0.425;0.131	B;B	0.35813	0.211;0.063	T	0.02282	-1.1183	10	0.54805	T	0.06	-38.2617	14.6723	0.68953	1.0:0.0:0.0:0.0	.	115;115	Q9Y5B0-4;Q9Y5B0	.;CTDP1_HUMAN	C	115	ENSP00000299543:S115C;ENSP00000075430:S115C	ENSP00000075430:S115C	S	+	1	0	CTDP1	75556241	1.000000	0.71417	0.975000	0.42487	0.163000	0.22366	6.159000	0.71856	1.927000	0.55829	0.533000	0.62120	AGC		0.498	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		14	15	0	0	0	0.00245	0	14	15				
ABCA7	10347	broad.mit.edu	37	19	1061853	1061853	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:1061853G>C	ENST00000263094.6	+	41	5767	c.5536G>C	c.(5536-5538)Gcc>Ccc	p.A1846P	ABCA7_ENST00000433129.1_Missense_Mutation_p.A1846P|ABCA7_ENST00000435683.2_Missense_Mutation_p.A1708P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1846	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.A1846P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACACATTGGCCAGCAGGGG	0.637																																							uc002lqw.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(5536-5538)GCC>CCC		ATP-binding cassette, sub-family A, member 7							86.0	74.0	78.0					19																	1061853		2203	4299	6502	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1061853G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5536G>C	19.37:g.1061853G>C	ENSP00000263094:p.Ala1846Pro					ABCA7_uc002lqy.2_Missense_Mutation_p.A299P|ABCA7_uc010dsc.2_RNA	p.A1846P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	41	5767	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1846			ABC transporter 2.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5536G>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234779	0.05983	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.92199	-2.99;-2.99	3.57	1.16	0.20824	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	T	0.70430	0.3223	N	0.00327	-1.64	0.22779	N	0.998748	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.65001	-0.6274	9	0.25106	T	0.35	.	6.9813	0.24704	0.1775:0.3345:0.4879:0.0	.	971;1846	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	P	1846	ENSP00000263094:A1846P;ENSP00000414062:A1846P	ENSP00000263094:A1846P	A	+	1	0	ABCA7	1012853	0.595000	0.26857	0.710000	0.30468	0.015000	0.08874	1.159000	0.31749	0.683000	0.31428	-0.311000	0.09066	GCC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		5	20	0	0	0	0.001168	0	5	20				
CACTIN	58509	broad.mit.edu	37	19	3611929	3611929	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:3611929G>A	ENST00000429344.2	-	10	2321	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.R689W|CACTIN_ENST00000248420.5_Missense_Mutation_p.R757W	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	757					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R689W(1)|p.R757W(1)									CGTCACCGCCGATAGCGGTAG	0.647																																							uc002lyh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2269-2271)CGG>TGG		chromosome 19 open reading frame 29							37.0	42.0	40.0					19																	3611929		1992	4145	6137	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3611929G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2269C>T	19.37:g.3611929G>A	ENSP00000415078:p.Arg757Trp					C19orf29_uc010xho.1_Missense_Mutation_p.R216W|C19orf29_uc010dtn.2_Missense_Mutation_p.R605W|C19orf29_uc002lyi.3_Missense_Mutation_p.R757W|C19orf29_uc010dto.2_RNA	p.R757W	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2322	-		Hepatocellular(1079;0.137)	757					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2269C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162491	0.38217	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.31	2.1	0.27182	Cactin protein, cactus-binding domain, C-terminal (1);	0.194703	0.43110	D	0.000617	T	0.78457	0.4286	M	0.89840	3.065	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76903	-0.2787	9	0.87932	D	0	.	6.1123	0.20108	0.0901:0.0:0.5799:0.33	.	757;757	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	W	757;757;689	.	ENSP00000221899:R689W	R	-	1	2	C19orf29	3562929	1.000000	0.71417	0.893000	0.35052	0.037000	0.13140	4.268000	0.58883	0.541000	0.28827	-0.152000	0.13540	CGG		0.647	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			6	13	0	0	0	0.001168	0	6	13				
ANKRD24	170961	broad.mit.edu	37	19	4207248	4207248	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:4207248G>T	ENST00000600132.1	+	8	752	c.476G>T	c.(475-477)gGc>gTc	p.G159V	RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000262970.5_Missense_Mutation_p.G249V|ANKRD24_ENST00000318934.4_Missense_Mutation_p.G159V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	159								p.G249V(1)|p.G51V(1)|p.G159V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCGGCTGGTGGCTGTCTCTCC	0.537											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010dtt.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(475-477)GGC>GTC		ankyrin repeat domain 24							59.0	61.0	60.0					19																	4207248		2019	4192	6211	SO:0001583	missense	170961							g.chr19:4207248G>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.476G>T	19.37:g.4207248G>T	ENSP00000471252:p.Gly159Val		OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617	ANKRD24_uc002lzs.2_Missense_Mutation_p.G130V|ANKRD24_uc002lzt.2_Missense_Mutation_p.G131V	p.G159V	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	8	752	+			159			ANK 3.		O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.476G>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007042	0.74932	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.73681	-0.77;-0.77	4.87	4.87	0.63330	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.90518	0.7029	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93324	0.6695	9	0.87932	D	0	-27.8194	14.9074	0.70730	0.0:0.0:1.0:0.0	.	159;249	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	V	159;249	ENSP00000321731:G159V;ENSP00000262970:G249V	ENSP00000262970:G249V	G	+	2	0	ANKRD24	4158248	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	7.102000	0.77005	2.530000	0.85305	0.456000	0.33151	GGC		0.537	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		10	8	1	0	0.00136819	0.013537	0.00141725	10	8				
MUC16	94025	broad.mit.edu	37	19	9090220	9090220	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:9090220T>A	ENST00000397910.4	-	1	1798	c.1595A>T	c.(1594-1596)cAg>cTg	p.Q532L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	532	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.Q532L(2)		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						CTGTGTGTGCTGGGGTTCACT	0.542																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1594-1596)CAG>CTG		mucin 16							93.0	91.0	91.0					19																	9090220		2099	4232	6331	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090220T>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.1595A>T	19.37:g.9090220T>A	ENSP00000381008:p.Gln532Leu						p.Q532L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1799	-			532			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1595A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	9.684	1.150117	0.21371	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	1.45	0.395	0.16304	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	.	.	.	P	0.50710	0.938	P	0.49012	0.598	T	0.44847	-0.9301	8	0.87932	D	0	.	3.268	0.06871	0.0:0.2471:0.0:0.7529	.	532	B5ME49	.	L	532	ENSP00000381008:Q532L	ENSP00000381008:Q532L	Q	-	2	0	MUC16	8951220	0.004000	0.15560	0.003000	0.11579	0.898000	0.52572	-0.076000	0.11412	0.057000	0.16193	0.260000	0.18958	CAG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	9	0	0	0	0.010504	0	19	9				
OR1M1	125963	broad.mit.edu	37	19	9204055	9204055	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:9204055C>T	ENST00000429566.3	+	1	201	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I45I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACCTGCTCATCATCCTGGCCA	0.547																																							uc010xkj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(133-135)ATC>ATT		olfactory receptor, family 1, subfamily M,							136.0	106.0	116.0					19																	9204055		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204055C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.135C>T	19.37:g.9204055C>T							p.I45I	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	135	+			45			Helical; Name=1; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.135C>T	CCDS32896.1																																																																																				0.547	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			10	37	0	0	0	0.010729	0	10	37				
ICAM5	7087	broad.mit.edu	37	19	10402220	10402220	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:10402220G>A	ENST00000221980.4	+	3	471	c.408G>A	c.(406-408)gaG>gaA	p.E136E	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	136	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E136E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGGTGGGCGAGAACTTCACCC	0.692																																							uc002mnu.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(406-408)GAG>GAA		intercellular adhesion molecule 5 precursor							62.0	74.0	70.0					19																	10402220		2132	4157	6289	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402220G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.408G>A	19.37:g.10402220G>A						ICAM5_uc002mnv.3_Silent_p.E11E	p.E136E	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	473	+			136			Extracellular (Potential).|Ig-like C2-type 2.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.408G>A	CCDS12233.1																																																																																				0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		30	101	0	0	0	0.009535	0	30	101				
ZNF823	55552	broad.mit.edu	37	19	11833307	11833307	+	Nonsense_Mutation	SNP	G	G	A	rs200817135		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:11833307G>A	ENST00000341191.6	-	4	1195	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R166*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	348					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.R348*(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCATGATTTCGAACTGAACTA	0.418										HNSCC(68;0.2)																													uc002msm.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1042-1044)CGA>TGA		ZFP-36 for a zinc finger protein							126.0	124.0	125.0					19																	11833307		2203	4300	6503	SO:0001587	stop_gained	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833307G>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1042C>T	19.37:g.11833307G>A	ENSP00000340683:p.Arg348*	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Nonsense_Mutation_p.R166*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R304*	p.R348*	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	1168	-			348			C2H2-type 7.		A0PJL4|B7Z8D4|Q6P4A9	Nonsense_Mutation	SNP	ENST00000341191.6	37	c.1042C>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	g	39	7.789012	0.98489	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	.	.	.	0.632	0.632	0.17705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.1241	0.25461	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	166;348;304	.	ENSP00000340683:R348X	R	-	1	2	ZNF823	11694307	0.000000	0.05858	0.005000	0.12908	0.912000	0.54170	0.429000	0.21412	0.618000	0.30179	0.298000	0.19748	CGA		0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		29	67	0	0	0	0.007291	0	29	67				
CYP4F11	57834	broad.mit.edu	37	19	16025572	16025572	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:16025572C>A	ENST00000402119.4	-	9	1675	c.1249G>T	c.(1249-1251)Ggc>Tgc	p.G417C	CYP4F11_ENST00000591841.1_Splice_Site_p.G92C|CYP4F11_ENST00000248041.8_Splice_Site_p.G417C|CYP4F11_ENST00000326742.8_Splice_Site_p.G417C	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.G417C(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAGCACCTTTGGGGATG	0.632																																							uc002nbu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1249-1251)GGC>TGC		cytochrome P450 family 4 subfamily F polypeptide							71.0	74.0	73.0					19																	16025572		2203	4300	6503	SO:0001630	splice_region_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025572C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1249+1G>T	19.37:g.16025572C>A						CYP4F11_uc010eab.1_Missense_Mutation_p.G417C|CYP4F11_uc002nbt.2_Missense_Mutation_p.G417C	p.G417C	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			10	1285	-			417						Missense_Mutation	SNP	ENST00000402119.4	37	c.1249G>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.189064	0.78789	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.81330	-1.48;-1.48;-1.48	2.74	2.74	0.32292	.	0.000000	0.64402	U	0.000002	D	0.92047	0.7480	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93333	0.6703	9	.	.	.	.	11.2185	0.48840	0.0:1.0:0.0:0.0	.	417;417	F8W978;Q9HBI6	.;CP4FB_HUMAN	C	417	ENSP00000384588:G417C;ENSP00000248041:G417C;ENSP00000319859:G417C	.	G	-	1	0	CYP4F11	15886572	1.000000	0.71417	0.995000	0.50966	0.329000	0.28539	6.723000	0.74742	1.513000	0.48852	0.462000	0.41574	GGC;GGC;GGT		0.632	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	Missense_Mutation	50	15	1	0	2.74695e-27	0.01441	4.12837e-27	50	15				
TSHZ3	57616	broad.mit.edu	37	19	31769592	31769592	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:31769592C>T	ENST00000240587.4	-	2	1434	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	369					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q186Q(1)|p.Q369Q(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGCCCCATTCTGGTGGCCGT	0.562																																							uc002nsy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1105-1107)CAG>CAA		zinc finger protein 537							234.0	226.0	229.0					19																	31769592		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769592C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1107G>A	19.37:g.31769592C>T							p.Q369Q	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1172	-	Esophageal squamous(110;0.226)		369					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1107G>A	CCDS12421.2																																																																																				0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		10	139	0	0	0	0.001855	0	10	139				
KIRREL2	84063	broad.mit.edu	37	19	36350469	36350469	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:36350469C>T	ENST00000360202.5	+	5	807	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KIRREL2_ENST00000592409.1_Silent_p.V203V|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.V153V|KIRREL2_ENST00000262625.7_Silent_p.V203V	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	203	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.V203V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCTTTGTCTGCCGGGCCC	0.617																																							uc002ocb.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(607-609)GTC>GTT		kin of IRRE-like 2 isoform c							67.0	65.0	66.0					19																	36350469		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36350469C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.609C>T	19.37:g.36350469C>T						KIRREL2_uc002obz.3_Silent_p.V203V|KIRREL2_uc002oca.3_Silent_p.V153V|KIRREL2_uc002occ.3_Silent_p.V150V|KIRREL2_uc002ocd.3_Silent_p.V200V	p.V203V	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	821	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		203			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.609C>T	CCDS12481.1																																																																																				0.617	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		16	61	0	0	0	0.008871	0	16	61				
PSG5	5673	broad.mit.edu	37	19	43680272	43680272	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:43680272G>T	ENST00000366175.3	-	3	589	c.459C>A	c.(457-459)atC>atA	p.I153I	PSG5_ENST00000342951.6_Silent_p.I153I|PSG5_ENST00000404580.1_Silent_p.I153I|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Silent_p.I246I|PSG5_ENST00000407356.1_Silent_p.I153I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	153	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I153I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTGAGTTGTTGATGGTGATGT	0.473																																							uc002ovu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(457-459)ATC>ATA		pregnancy specific beta-1-glycoprotein 5							237.0	220.0	225.0					19																	43680272		2202	4295	6497	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43680272G>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.459C>A	19.37:g.43680272G>T						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.I153I|PSG5_uc002ovv.2_Silent_p.I246I|PSG5_uc002ovw.2_Intron	p.I153I	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	590	-		Prostate(69;0.00899)	153			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.459C>A	CCDS12617.1																																																																																				0.473	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		138	65	1	0	6.47883e-55	0.01441	1.01171e-54	138	65				
ZNF221	7638	broad.mit.edu	37	19	44471324	44471325	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44471324_44471325GG>TT	ENST00000251269.5	+	6	1998_1999	c.1670_1671GG>TT	c.(1669-1671)gGG>gTT	p.G557V	ZNF221_ENST00000587682.1_Missense_Mutation_p.G557V|ZNF221_ENST00000592350.1_Missense_Mutation_p.G557V	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	557			G -> R (in dbSNP:rs366111). {ECO:0000269|PubMed:12743021, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		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.G557V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGGGTCCACGGGGGAGAGCGAC	0.45																																							uc002oxx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1669-1671)GGG>GTT		zinc finger protein 221																																				SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471324_44471325GG>TT	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		Exception_encountered	19.37:g.44471324_44471325delinsTT	ENSP00000251269:p.Gly557Val					ZNF221_uc010ejb.1_Missense_Mutation_p.G557V|ZNF221_uc010xws.1_Missense_Mutation_p.G557V	p.G557V	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1998_1999	+		Prostate(69;0.0352)	557					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	DNP	ENST00000251269.5	37	c.1670_1671GG>TT	CCDS12633.1																																																																																				0.450	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			14	23	0	0	0	0.004672	0	14	23				
ZNF234	10780	broad.mit.edu	37	19	44661190	44661190	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44661190G>C	ENST00000426739.2	+	6	1279	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.E341Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E341Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CCACACAGGAGAGAAACCTTA	0.448																																							uc002oym.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GAG>CAG		zinc finger protein 234							62.0	69.0	67.0					19																	44661190		2176	4293	6469	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661190G>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1021G>C	19.37:g.44661190G>C	ENSP00000400878:p.Glu341Gln					ZNF234_uc002oyl.3_Missense_Mutation_p.E341Q	p.E341Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1328	+		Prostate(69;0.0435)	341					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1021G>C	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907482	0.52333	.	.	ENSG00000167380	ENST00000426739	T	0.25912	1.77	4.12	0.6	0.17524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	L	0.54965	1.715	0.20489	N	0.999895	D	0.59357	0.985	P	0.51415	0.669	T	0.14587	-1.0467	9	0.87932	D	0	.	6.7099	0.23272	0.1739:0.1469:0.6792:0.0	.	341	Q14588	ZN234_HUMAN	Q	341	ENSP00000400878:E341Q	ENSP00000400878:E341Q	E	+	1	0	ZNF226	49353030	1.000000	0.71417	0.093000	0.20910	0.810000	0.45777	3.711000	0.54868	0.114000	0.18032	0.591000	0.81541	GAG		0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			14	39	0	0	0	0.001855	0	14	39				
ZNF226	7769	broad.mit.edu	37	19	44681648	44681648	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:44681648C>G	ENST00000590089.1	+	7	2600	c.2233C>G	c.(2233-2235)Cat>Gat	p.H745D	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.H745D|ZNF226_ENST00000337433.5_Missense_Mutation_p.H745D			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H745D(1)					Prostate(69;0.0352)|all_neural(266;0.202)				ACTACAGTCTCATCAGCGAGT	0.423																																					Pancreas(115;581 1665 13228 19278 50070)	Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2233-2235)CAT>GAT		zinc finger protein 226 isoform a							129.0	138.0	135.0					19																	44681648		2194	4295	6489	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681648C>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2233C>G	19.37:g.44681648C>G	ENSP00000465121:p.His745Asp					ZNF226_uc002oyq.2_Missense_Mutation_p.H628D|ZNF226_uc002oyr.2_Missense_Mutation_p.H628D|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.H745D|ZNF226_uc002oyt.2_Missense_Mutation_p.H745D	p.H745D	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	2377	+		Prostate(69;0.0352)|all_neural(266;0.202)	745			C2H2-type 18.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.2233C>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449047	0.63178	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	D;D	0.86769	-2.17;-2.17	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33477	N	0.004871	D	0.95385	0.8502	H	0.96175	3.78	0.35378	D	0.789658	D	0.89917	1.0	D	0.91635	0.999	D	0.99886	1.1124	10	0.72032	D	0.01	.	15.141	0.72609	0.0:1.0:0.0:0.0	.	745	Q9NYT6	ZN226_HUMAN	D	745	ENSP00000336719:H745D;ENSP00000393265:H745D	ENSP00000336719:H745D	H	+	1	0	ZNF226	49373488	0.996000	0.38824	0.999000	0.59377	0.961000	0.63080	3.540000	0.53611	2.186000	0.69663	0.655000	0.94253	CAT		0.423	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			4	80	0	0	0	0.000602	0	4	80				
AP2A1	160	broad.mit.edu	37	19	50309968	50309968	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:50309968G>C	ENST00000359032.5	+	24	2887	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	AC006942.4_ENST00000600669.1_RNA|AP2A1_ENST00000354293.5_Missense_Mutation_p.E941Q	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	963				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.E963Q(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CACCAGCAAGGAGCCCGTCTC	0.667																																							uc002ppn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2887-2889)GAG>CAG		adaptor-related protein complex 2, alpha 1							49.0	55.0	53.0					19																	50309968		1981	4169	6150	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50309968G>C	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2887G>C	19.37:g.50309968G>C	ENSP00000351926:p.Glu963Gln					AP2A1_uc002ppo.2_Missense_Mutation_p.E941Q|AP2A1_uc010enk.2_Missense_Mutation_p.E94Q	p.E963Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	24	3098	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	963	ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).				Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.2887G>C	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171865	0.94807	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.19394	2.16;2.15	4.97	4.97	0.65823	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain (1);	0.053328	0.64402	D	0.000001	T	0.44561	0.1299	M	0.81341	2.54	0.52501	D	0.99995	P;P	0.45212	0.853;0.785	P;B	0.54965	0.765;0.404	T	0.41484	-0.9506	10	0.46703	T	0.11	.	17.0069	0.86395	0.0:0.0:1.0:0.0	.	941;963	O95782-2;O95782	.;AP2A1_HUMAN	Q	941;963	ENSP00000346246:E941Q;ENSP00000351926:E963Q	ENSP00000346246:E941Q	E	+	1	0	AP2A1	55001780	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.405000	0.97313	2.296000	0.77279	0.561000	0.74099	GAG		0.667	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			4	45	0	0	0	0.000602	0	4	45				
KLK13	26085	broad.mit.edu	37	19	51563277	51563277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:51563277G>T	ENST00000595793.1	-	3	355	c.313C>A	c.(313-315)Cac>Aac	p.H105N	KLK13_ENST00000596955.1_Missense_Mutation_p.H105N|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.H105N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGATAGAGTGGACAACTTCC	0.587																																							uc002pvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CAC>AAC		kallikrein 13 precursor							89.0	89.0	89.0					19																	51563277		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563277G>T		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.313C>A	19.37:g.51563277G>T	ENSP00000470555:p.His105Asn					KLK13_uc002pvl.2_Intron|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_Intron|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Intron|KLK13_uc002pvq.2_Intron|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.H105N	p.H105N	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	356	-		all_neural(266;0.026)	105			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.313C>A	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102524	0.06967	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.463	0.16700	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.289693	0.25112	N	0.033042	T	0.22282	0.0537	N	0.10629	0.01	0.21719	N	0.999572	B;B	0.20052	0.041;0.02	B;B	0.32090	0.14;0.14	T	0.23547	-1.0185	9	0.66056	D	0.02	.	5.9556	0.19271	0.3462:0.0:0.6538:0.0	.	105;105	B5BUM9;Q9UKR3	.;KLK13_HUMAN	N	105	.	ENSP00000156476:H105N	H	-	1	0	KLK13	56255089	0.001000	0.12720	0.698000	0.30274	0.005000	0.04900	0.729000	0.26028	0.367000	0.24454	-1.023000	0.02433	CAC		0.587	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		42	24	1	0	2.77807e-22	0.013114	4.02394e-22	42	24				
ZNF615	284370	broad.mit.edu	37	19	52497585	52497585	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:52497585C>T	ENST00000602063.1	-	6	1093	c.744G>A	c.(742-744)atG>atA	p.M248I	ZNF615_ENST00000376716.5_Missense_Mutation_p.M248I|ZNF615_ENST00000594083.1_Missense_Mutation_p.M259I|ZNF615_ENST00000598071.1_Missense_Mutation_p.M259I|ZNF615_ENST00000391795.3_Missense_Mutation_p.M253I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M259I(1)|p.M248I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTGATGGTCCATTAGTCTGG	0.383																																							uc002pye.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(742-744)ATG>ATA		zinc finger protein 615							157.0	148.0	151.0					19																	52497585		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497585C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.744G>A	19.37:g.52497585C>T	ENSP00000473089:p.Met248Ile					ZNF615_uc002pyf.1_Missense_Mutation_p.M259I|ZNF615_uc002pyg.1_Missense_Mutation_p.M140I|ZNF615_uc002pyh.1_Missense_Mutation_p.M259I|ZNF615_uc010epi.1_Missense_Mutation_p.M255I|ZNF615_uc010ydg.1_Missense_Mutation_p.M253I	p.M248I	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1036	-		all_neural(266;0.117)	248			C2H2-type 2.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.744G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.986255	0.00443	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07216	3.21;3.21	3.42	-1.91	0.07641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.01134	-0.995	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40664	-0.9551	9	0.02654	T	1	.	1.1072	0.01697	0.4185:0.184:0.093:0.3045	.	253;255;259;248	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	248;258;253;258	ENSP00000365906:M248I;ENSP00000375672:M253I	ENSP00000347019:M258I	M	-	3	0	ZNF615	57189397	0.000000	0.05858	0.024000	0.17045	0.635000	0.38103	-5.395000	0.00125	-0.670000	0.05282	-0.266000	0.10368	ATG		0.383	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		6	154	0	0	0	0.001168	0	6	154				
CCDC106	29903	broad.mit.edu	37	19	56163807	56163807	+	Missense_Mutation	SNP	G	G	T	rs563653718		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:56163807G>T	ENST00000586790.1	+	5	1442	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	CCDC106_ENST00000591241.1_Missense_Mutation_p.D145Y|CCDC106_ENST00000591578.1_Missense_Mutation_p.D180Y|CCDC106_ENST00000588740.1_Missense_Mutation_p.D180Y|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.D180Y|U2AF2_ENST00000450554.2_5'Flank			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	180						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D180Y(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAAGGACGCCGACGGGGTCCT	0.637																																							uc002qlr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GAC>TAC		coiled-coil domain containing 106							31.0	32.0	32.0					19																	56163807		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56163807G>T	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.538G>T	19.37:g.56163807G>T	ENSP00000465757:p.Asp180Tyr					CCDC106_uc002qls.2_Missense_Mutation_p.D180Y|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	p.D180Y	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	6	1273	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	180					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.538G>T	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580529	0.65992	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.16	4.16	0.48862	.	0.136529	0.48767	D	0.000168	T	0.67655	0.2916	L	0.40543	1.245	0.54753	D	0.999987	D	0.89917	1.0	D	0.74674	0.984	T	0.71712	-0.4510	9	0.66056	D	0.02	15.6382	15.632	0.76917	0.0:0.0:1.0:0.0	.	180	Q9BWC9	CC106_HUMAN	Y	180	.	ENSP00000309681:D180Y	D	+	1	0	CCDC106	60855619	1.000000	0.71417	0.104000	0.21259	0.465000	0.32709	8.721000	0.91446	2.016000	0.59253	0.555000	0.69702	GAC		0.637	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		19	10	1	0	1.01871e-10	0.008871	1.26126e-10	19	10				
CMPK2	129607	broad.mit.edu	37	2	6991699	6991699	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:6991699C>G	ENST00000256722.5	-	4	1107	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	CMPK2_ENST00000404168.1_Missense_Mutation_p.D370H|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	370					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.D370H(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGATAAGGTCAGGTTTGAGC	0.607																																							uc002qyo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1108-1110)GAC>CAC		UMP-CMP kinase 2 precursor							106.0	111.0	109.0					2																	6991699		2052	4210	6262	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:6991699C>G		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.1108G>C	2.37:g.6991699C>G	ENSP00000256722:p.Asp370His					CMPK2_uc002qyn.1_RNA|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Missense_Mutation_p.D370H	p.D370H	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			4	1217	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		370					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.1108G>C	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042844	0.36085	.	.	ENSG00000134326	ENST00000256722;ENST00000404168	D;D	0.97114	-4.25;-4.25	5.23	5.23	0.72850	.	0.243074	0.43260	D	0.000595	D	0.97835	0.9289	M	0.72894	2.215	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	D	0.98072	1.0399	10	0.54805	T	0.06	-32.5035	19.1591	0.93524	0.0:1.0:0.0:0.0	.	370	Q5EBM0	CMPK2_HUMAN	H	370	ENSP00000256722:D370H;ENSP00000384915:D370H	ENSP00000256722:D370H	D	-	1	0	CMPK2	6909150	0.982000	0.34865	0.806000	0.32338	0.015000	0.08874	2.433000	0.44793	2.596000	0.87737	0.561000	0.74099	GAC		0.607	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		17	102	0	0	0	0.004007	0	17	102				
ADAM17	6868	broad.mit.edu	37	2	9666271	9666271	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:9666271C>T	ENST00000310823.3	-	6	904	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ADAM17_ENST00000497134.1_Missense_Mutation_p.R241K	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	241	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R241K(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTCTTCCCCTCTGCCCATGTA	0.378																																							uc002qzu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(721-723)AGA>AAA		a disintegrin and metalloprotease domain 17							238.0	219.0	225.0					2																	9666271		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9666271C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.722G>A	2.37:g.9666271C>T	ENSP00000309968:p.Arg241Lys					ADAM17_uc010ewy.2_Missense_Mutation_p.R241K|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank	p.R241K	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	6	905	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		241			Peptidase M12B.|Extracellular (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.722G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998303	0.74818	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	D;D	0.86366	-2.11;-2.11	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	L	0.27053	0.805	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.20384	0.029;0.029	T	0.74456	-0.3659	10	0.08381	T	0.77	.	19.8857	0.96911	0.0:1.0:0.0:0.0	.	241;241	B2RNB2;P78536	.;ADA17_HUMAN	K	241	ENSP00000309968:R241K;ENSP00000418728:R241K	ENSP00000309968:R241K	R	-	2	0	ADAM17	9583722	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.380000	0.79704	2.771000	0.95319	0.650000	0.86243	AGA		0.378	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			10	206	0	0	0	0.013537	0	10	206				
IFT172	26160	broad.mit.edu	37	2	27684242	27684242	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:27684242G>C	ENST00000260570.3	-	22	2439	c.2336C>G	c.(2335-2337)cCt>cGt	p.P779R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	779					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.P779R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGCTTTGGCAGGGAGCCCAGC	0.577																																							uc002rku.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2335-2337)CCT>CGT		selective LIM binding factor homolog							102.0	95.0	97.0					2																	27684242		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27684242G>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2336C>G	2.37:g.27684242G>C	ENSP00000260570:p.Pro779Arg						p.P779R	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			22	2387	-	Acute lymphoblastic leukemia(172;0.155)		779					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2336C>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532063	0.85812	.	.	ENSG00000138002	ENST00000260570	T	0.66995	-0.24	5.68	4.79	0.61399	Tetratricopeptide-like helical (1);	0.047856	0.85682	D	0.000000	D	0.84101	0.5398	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87108	0.2183	10	0.72032	D	0.01	-11.0424	13.2385	0.59983	0.0776:0.0:0.9224:0.0	.	779	Q9UG01	IF172_HUMAN	R	779	ENSP00000260570:P779R	ENSP00000260570:P779R	P	-	2	0	IFT172	27537746	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.679000	0.98649	1.393000	0.46605	0.585000	0.79938	CCT		0.577	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		4	125	0	0	0	0.009096	0	4	125				
C2orf16	84226	broad.mit.edu	37	2	27800697	27800697	+	Missense_Mutation	SNP	C	C	T	rs369137474		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:27800697C>T	ENST00000408964.2	+	1	1309	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	420						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.P420S(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTAGAGGTGCCCCTGAAGCA	0.468																																							uc002rkz.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1258-1260)CCC>TCC		hypothetical protein LOC84226							73.0	71.0	72.0					2																	27800697		1894	4115	6009	SO:0001583	missense	84226							g.chr2:27800697C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1258C>T	2.37:g.27800697C>T	ENSP00000386190:p.Pro420Ser						p.P420S	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1309	+	Acute lymphoblastic leukemia(172;0.155)		420					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1258C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	0.955	-0.705229	0.03255	.	.	ENSG00000221843	ENST00000408964	T	0.04654	3.58	2.98	-2.3	0.06785	.	.	.	.	.	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	B	0.21381	0.055	B	0.18871	0.023	T	0.46707	-0.9172	9	0.02654	T	1	.	7.6977	0.28604	0.0:0.3524:0.0:0.6476	.	420	Q68DN1	CB016_HUMAN	S	420	ENSP00000386190:P420S	ENSP00000386190:P420S	P	+	1	0	C2orf16	27654201	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-2.689000	0.00832	-0.609000	0.05724	-0.471000	0.05019	CCC		0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		42	42	0	0	0	0.006999	0	42	42				
CLIP4	79745	broad.mit.edu	37	2	29390370	29390371	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:29390370_29390371GA>TT	ENST00000320081.5	+	14	1942_1943	c.1687_1688GA>TT	c.(1687-1689)GAa>TTa	p.E563L	CLIP4_ENST00000404424.1_Missense_Mutation_p.E563L|CLIP4_ENST00000401605.1_Missense_Mutation_p.E563L|CLIP4_ENST00000401617.2_Missense_Mutation_p.E456L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	563								p.E563L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TACCCTTTCAGAAATTTCTTCA	0.322																																							uc002rmv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1687-1689)GAA>TTA		CAP-GLY domain containing linker protein family,																																				SO:0001583	missense	79745							g.chr2:29390370_29390371GA>TT	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	Exception_encountered	2.37:g.29390370_29390371delinsTT	ENSP00000327009:p.Glu563Leu					CLIP4_uc002rmu.2_Missense_Mutation_p.E563L|CLIP4_uc002rmw.2_RNA	p.E563L	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			14	1926_1927	+	Acute lymphoblastic leukemia(172;0.155)		563					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	DNP	ENST00000320081.5	37	c.1687_1688GA>TT	CCDS1770.1																																																																																				0.322	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		19	64	0	0	0	0.004672	0	19	64				
CHAC2	494143	broad.mit.edu	37	2	53999058	53999058	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:53999058G>A	ENST00000295304.4	+	2	245	c.150G>A	c.(148-150)gtG>gtA	p.V50V	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	50								p.V50V(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAAGAGTTGTGACTCTTGTTG	0.269																																							uc002rxk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)GTG>GTA		ChaC, cation transport regulator-like 2							64.0	75.0	71.0					2																	53999058		2197	4292	6489	SO:0001819	synonymous_variant	494143							g.chr2:53999058G>A	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.150G>A	2.37:g.53999058G>A						ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.V50V	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	245	+			50					Q8WVI8	Silent	SNP	ENST00000295304.4	37	c.150G>A	CCDS33196.1																																																																																				0.269	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		18	129	0	0	0	0.010504	0	18	129				
BCL11A	53335	broad.mit.edu	37	2	60688324	60688324	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:60688324G>T	ENST00000335712.6	-	4	1950	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	BCL11A_ENST00000358510.4_Missense_Mutation_p.L541M|BCL11A_ENST00000356842.4_Missense_Mutation_p.L575M|BCL11A_ENST00000538214.1_Missense_Mutation_p.L541M|BCL11A_ENST00000537768.1_Missense_Mutation_p.L244M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	575					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.L575M(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCCTCGGCCAGGTGGCCGCGC	0.667			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1723-1725)CTG>ATG		B-cell CLL/lymphoma 11A isoform 1							23.0	24.0	23.0					2																	60688324		2192	4284	6476	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688324G>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1723C>A	2.37:g.60688324G>T	ENSP00000338774:p.Leu575Met					BCL11A_uc002sab.2_Missense_Mutation_p.L575M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.L244M|BCL11A_uc010ypj.1_Missense_Mutation_p.L541M|BCL11A_uc002sad.1_Missense_Mutation_p.L423M|BCL11A_uc002saf.1_Missense_Mutation_p.L541M	p.L575M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1951	-			575					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1723C>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602734	0.13939	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09445	2.98;3.27;3.12;3.29;3.23	5.83	4.95	0.65309	.	0.000000	0.51477	D	0.000094	T	0.20251	0.0487	L	0.50333	1.59	0.39859	D	0.973355	D;D;D;D;B	0.59357	0.985;0.969;0.982;0.974;0.164	P;P;P;P;B	0.58391	0.838;0.55;0.737;0.646;0.013	T	0.01557	-1.1325	10	0.45353	T	0.12	-1.6601	9.1732	0.37096	0.2164:0.0:0.7836:0.0	.	541;244;541;575;575	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	M	575;600;541;244;575;541	ENSP00000349300:L575M;ENSP00000438303:L541M;ENSP00000443712:L244M;ENSP00000338774:L575M;ENSP00000351307:L541M	ENSP00000338774:L575M	L	-	1	2	BCL11A	60541828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.486000	0.53215	1.460000	0.47911	0.650000	0.86243	CTG		0.667	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		15	16	1	0	3.41278e-10	0.00499	4.17564e-10	15	16				
PAPOLG	64895	broad.mit.edu	37	2	61014693	61014693	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:61014693T>C	ENST00000238714.3	+	15	1583	c.1334T>C	c.(1333-1335)gTa>gCa	p.V445A		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	445					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.V445A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTCGGAGAGTAGAAAATGCA	0.303																																					GBM(183;1497 2932 21839 46797)	GBM(183;1497 2932 21839 46797)	uc002sai.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1333-1335)GTA>GCA		poly(A) polymerase gamma							89.0	87.0	87.0					2																	61014693		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61014693T>C	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1334T>C	2.37:g.61014693T>C	ENSP00000238714:p.Val445Ala					PAPOLG_uc002saj.2_Missense_Mutation_p.V134A|PAPOLG_uc002sak.2_Intron|PAPOLG_uc010fch.2_Missense_Mutation_p.V134A	p.V445A	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		15	1565	+	all_hematologic(2;0.0797)		445					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.1334T>C	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751670	0.49362	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.55	5.55	0.83447	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.179383	0.48286	D	0.000191	T	0.45816	0.1361	L	0.40543	1.245	0.39592	D	0.969605	P;B	0.38280	0.625;0.009	B;B	0.43301	0.415;0.01	T	0.40040	-0.9584	9	0.17369	T	0.5	-24.8978	9.912	0.41411	0.0:0.1215:0.0:0.8785	.	134;445	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	A	445;134;113	.	ENSP00000238714:V445A	V	+	2	0	PAPOLG	60868197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.918000	0.56432	2.094000	0.63399	0.533000	0.62120	GTA		0.303	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		7	28	0	0	0	0.004482	0	7	28				
SPRED2	200734	broad.mit.edu	37	2	65561824	65561824	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:65561824C>G	ENST00000356388.4	-	3	477	c.288G>C	c.(286-288)agG>agC	p.R96S	SPRED2_ENST00000443619.2_Missense_Mutation_p.R93S|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	96	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R96S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCCAAACTTCCTATTATCGA	0.448																																							uc002sdr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(286-288)AGG>AGC		sprouty-related protein with EVH-1 domain 2							201.0	189.0	193.0					2																	65561824		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561824C>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.288G>C	2.37:g.65561824C>G	ENSP00000348753:p.Arg96Ser					SPRED2_uc010fcw.2_Missense_Mutation_p.R93S|SPRED2_uc010fcx.1_Intron	p.R96S	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			3	823	-			96			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.288G>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343139	0.41498	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.28	4.28	0.50868	EVH1 (2);Pleckstrin homology-type (1);	0.041576	0.85682	D	0.000000	D	0.97551	0.9198	L	0.45137	1.4	0.58432	D	0.999996	B;D	0.53745	0.088;0.962	B;P	0.61722	0.222;0.893	D	0.96289	0.9212	10	0.46703	T	0.11	-17.5358	9.1794	0.37131	0.0:0.8011:0.0:0.1989	.	93;96	E9PEP0;Q7Z698	.;SPRE2_HUMAN	S	96;93;111;28;96	ENSP00000348753:R96S;ENSP00000393697:R93S;ENSP00000390595:R111S;ENSP00000407627:R28S;ENSP00000406481:R96S	ENSP00000348753:R96S	R	-	3	2	SPRED2	65415328	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.697000	0.25556	2.471000	0.83476	0.655000	0.94253	AGG		0.448	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			5	112	0	0	0	0.000602	0	5	112				
PROKR1	10887	broad.mit.edu	37	2	68873233	68873233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:68873233C>T	ENST00000303786.3	+	2	700	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R94C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	94					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R94C(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAAGAAACTGCGCAACCTCAC	0.552																																							uc010yqj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)CGC>TGC		G protein-coupled receptor 73							196.0	163.0	174.0					2																	68873233		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873233C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.280C>T	2.37:g.68873233C>T	ENSP00000303775:p.Arg94Cys					PROKR1_uc002ses.2_RNA	p.R94C	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			1	280	+			94			Cytoplasmic (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.280C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960025	0.74016	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.46063	0.88;0.88	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80169	-0.1494	10	0.87932	D	0	.	11.5339	0.50626	0.1784:0.8216:0.0:0.0	.	94	Q8TCW9	PKR1_HUMAN	C	94	ENSP00000303775:R94C;ENSP00000377874:R94C	ENSP00000303775:R94C	R	+	1	0	PROKR1	68726737	0.871000	0.30034	0.995000	0.50966	0.975000	0.68041	1.637000	0.37155	2.890000	0.99128	0.650000	0.86243	CGC		0.552	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			27	106	0	0	0	0.00632	0	27	106				
FBXO41	150726	broad.mit.edu	37	2	73492453	73492453	+	Silent	SNP	G	G	T	rs200984173		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:73492453G>T	ENST00000521871.1	-	5	1936	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	FBXO41_ENST00000295133.5_Silent_p.P568P|FBXO41_ENST00000520530.2_Silent_p.P507P			Q8TF61	FBX41_HUMAN	F-box protein 41	507	F-box.							p.P507P(1)|p.P131P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TAGCAGGCCCGGGGCGGGGCG	0.672																																							uc002sjb.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(1)	3						c.(1702-1704)CCC>CCA		F-box protein 41							25.0	30.0	29.0					2																	73492453		1936	4114	6050	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73492453G>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1521C>A	2.37:g.73492453G>T							p.P568P	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			5	1704	-			507			F-box.		G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.1704C>A	CCDS46337.2																																																																																				0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			10	16	1	0	3.86212e-05	0.008291	4.18396e-05	10	16				
REG3G	130120	broad.mit.edu	37	2	79253889	79253889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:79253889G>A	ENST00000272324.5	+	3	311	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	REG3G_ENST00000409471.1_Missense_Mutation_p.G43S|REG3G_ENST00000393897.2_Missense_Mutation_p.G43S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	43					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.G43S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTCCCAAAGGCTCCAAGGC	0.522																																							uc002snw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GGC>AGC		regenerating islet-derived 3 gamma precursor							84.0	81.0	82.0					2																	79253889		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253889G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.127G>A	2.37:g.79253889G>A	ENSP00000272324:p.Gly43Ser					REG3G_uc002snx.2_Missense_Mutation_p.G43S|REG3G_uc010ffu.2_Missense_Mutation_p.G43S	p.G43S	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			3	212	+			43					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.127G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169889	0.38315	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.24723	3.8;3.8;1.84	5.05	3.27	0.37495	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.110989	0.40908	N	0.000998	T	0.37348	0.1000	M	0.89601	3.045	0.09310	N	1	B;B	0.33694	0.421;0.018	B;B	0.37943	0.261;0.188	T	0.39840	-0.9594	10	0.66056	D	0.02	.	7.9399	0.29952	0.1838:0.0:0.8162:0.0	.	43;43	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	43	ENSP00000377475:G43S;ENSP00000272324:G43S;ENSP00000387105:G43S	ENSP00000272324:G43S	G	+	1	0	REG3G	79107397	0.956000	0.32656	0.075000	0.20258	0.062000	0.15995	2.598000	0.46223	0.850000	0.35239	-0.126000	0.14955	GGC		0.522	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		19	17	0	0	0	0.006122	0	19	17				
ANKRD23	200539	broad.mit.edu	37	2	97506548	97506548	+	Silent	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:97506548T>G	ENST00000318357.4	-	4	443	c.402A>C	c.(400-402)ggA>ggC	p.G134G	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Silent_p.G134G	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	134					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.G134G(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TGGGGTCCCCTCCGTCTGTCA	0.602																																							uc002sxa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(400-402)GGA>GGC		diabetes related ankyrin repeat protein							144.0	131.0	135.0					2																	97506548		2203	4300	6503	SO:0001819	synonymous_variant	200539					nucleus		g.chr2:97506548T>G		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.402A>C	2.37:g.97506548T>G						ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Intron	p.G134G	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN			4	431	-			134					Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	c.402A>C	CCDS2027.1																																																																																				0.602	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		19	80	0	0	0	0.010504	0	19	80				
RGPD4	285190	broad.mit.edu	37	2	108488020	108488020	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:108488020G>A	ENST00000408999.3	+	20	3637	c.3560G>A	c.(3559-3561)aGa>aAa	p.R1187K	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1187K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1187					protein targeting to Golgi (GO:0000042)			p.R1187K(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATACTGGCAGAGCTGCCAAG	0.398																																							uc010ywk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3559-3561)AGA>AAA		RANBP2-like and GRIP domain containing 4							1.0	1.0	1.0					2																	108488020		179	475	654	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488020G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3560G>A	2.37:g.108488020G>A	ENSP00000386810:p.Arg1187Lys					RGPD4_uc002tdu.2_Missense_Mutation_p.R374K|RGPD4_uc010ywl.1_RNA	p.R1187K	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3642	+			1187					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3560G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	14.20	2.463942	0.43736	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.39229	1.09;1.09	2.33	2.33	0.28932	.	.	.	.	.	T	0.29093	0.0723	L	0.34521	1.04	0.24406	N	0.99469	B	0.33103	0.397	B	0.31547	0.132	T	0.10291	-1.0636	9	0.14656	T	0.56	-32.9518	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1187	Q7Z3J3	RGPD4_HUMAN	K	1187;1187;945	ENSP00000347081:R1187K;ENSP00000386810:R1187K	ENSP00000347081:R1187K	R	+	2	0	RGPD4	107854452	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	4.693000	0.61753	1.303000	0.44873	0.162000	0.16502	AGA		0.398	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		10	65	0	0	0	0.001855	0	10	65				
POTEE	445582	broad.mit.edu	37	2	132010529	132010529	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:132010529C>A	ENST00000356920.5	+	13	1729	c.1635C>A	c.(1633-1635)caC>caA	p.H545Q	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	545					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H545Q(1)|p.H545H(1)									TGAAGAAGCACGGAAGTACTC	0.393																																							uc002tsn.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1633-1635)CAC>CAA		protein expressed in prostate, ovary, testis,							83.0	75.0	78.0					2																	132010529		2166	4230	6396	SO:0001583	missense	445582						ATP binding	g.chr2:132010529C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1635C>A	2.37:g.132010529C>A	ENSP00000439189:p.His545Gln					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.H145Q|POTEE_uc002tsl.2_Missense_Mutation_p.H127Q|POTEE_uc010fmy.1_Missense_Mutation_p.H9Q	p.H545Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			13	1687	+			545					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1635C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	0.365	-0.937394	0.02340	.	.	ENSG00000188219	ENST00000356920	D	0.81579	-1.51	0.458	-0.916	0.10489	.	.	.	.	.	T	0.61677	0.2366	L	0.32530	0.975	0.09310	N	1	P	0.48350	0.909	B	0.39217	0.294	T	0.53809	-0.8386	8	0.29301	T	0.29	.	.	.	.	.	545	Q6S8J3	POTEE_HUMAN	Q	545	ENSP00000439189:H545Q	ENSP00000439189:H545Q	H	+	3	2	AC131180.1	131726999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.546000	0.02188	-2.295000	0.00662	-2.872000	0.00099	CAC		0.393	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		28	56	1	0	1.75199e-13	0.007291	2.32406e-13	28	56				
XIRP2	129446	broad.mit.edu	37	2	168106534	168106534	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:168106534G>A	ENST00000409195.1	+	9	8721	c.8632G>A	c.(8632-8634)Gaa>Aaa	p.E2878K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2878K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2656K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2703					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E2878K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGACCGCTGAAAGTAAAGC	0.393																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8632-8634)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							86.0	83.0	84.0					2																	168106534		1844	4087	5931	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106534G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8632G>A	2.37:g.168106534G>A	ENSP00000386840:p.Glu2878Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2703K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2656K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E224K	p.E2878K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8650	+			2703					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8632G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928240	0.34002	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02812	4.15;4.15;4.15	6.02	4.21	0.49690	.	0.506319	0.23153	N	0.051329	T	0.04724	0.0128	L	0.59436	1.845	0.28604	N	0.909001	P;P;B	0.42296	0.666;0.775;0.197	B;B;B	0.41412	0.194;0.356;0.09	T	0.17531	-1.0366	10	0.31617	T	0.26	-10.9356	10.9458	0.47299	0.1544:0.0:0.8456:0.0	.	2703;2703;2656	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2878;2878;2656;292	ENSP00000386840:E2878K;ENSP00000295237:E2878K;ENSP00000387255:E2656K	ENSP00000295237:E2878K	E	+	1	0	XIRP2	167814780	1.000000	0.71417	0.800000	0.32199	0.473000	0.32948	2.169000	0.42434	0.860000	0.35481	0.655000	0.94253	GAA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	111	0	0	0	0.001168	0	5	111				
ZNF804A	91752	broad.mit.edu	37	2	185803401	185803401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:185803401C>A	ENST00000302277.6	+	4	3872	c.3278C>A	c.(3277-3279)aCc>aAc	p.T1093N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1093							metal ion binding (GO:0046872)	p.T1093N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGTTCTACCTCTGTAACC	0.537																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3277-3279)ACC>AAC		zinc finger protein 804A							97.0	94.0	95.0					2																	185803401		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803401C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3278C>A	2.37:g.185803401C>A	ENSP00000303252:p.Thr1093Asn						p.T1093N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3872	+			1093					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3278C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619444	0.66787	.	.	ENSG00000170396	ENST00000302277	T	0.14022	2.54	5.06	5.06	0.68205	.	0.000000	0.49916	D	0.000122	T	0.36991	0.0987	M	0.71581	2.175	0.41269	D	0.986837	D	0.76494	0.999	D	0.66716	0.946	T	0.18366	-1.0339	10	0.66056	D	0.02	-10.4535	17.4106	0.87484	0.0:1.0:0.0:0.0	.	1093	Q7Z570	Z804A_HUMAN	N	1093	ENSP00000303252:T1093N	ENSP00000303252:T1093N	T	+	2	0	ZNF804A	185511646	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.461000	0.60115	2.340000	0.79590	0.305000	0.20034	ACC		0.537	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		24	79	1	0	7.38237e-10	0.00632	8.92751e-10	24	79				
CALCRL	10203	broad.mit.edu	37	2	188245253	188245253	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:188245253T>A	ENST00000409998.1	-	8	1130	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S117C|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S117C			Q16602	CALRL_HUMAN	calcitonin receptor-like	117					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.S117C(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTTCTGTTGCTTGCTGGATGT	0.323																																							uc002upv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(349-351)AGC>TGC		calcitonin receptor-like precursor							239.0	245.0	243.0					2																	188245253		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188245253T>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.349A>T	2.37:g.188245253T>A	ENSP00000386972:p.Ser117Cys					CALCRL_uc010frt.2_Missense_Mutation_p.S117C	p.S117C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		7	897	-			117			Extracellular (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.349A>T	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259811	0.80246	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.38401	1.14;1.14;1.14	5.0	5.0	0.66597	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.94021	3.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.74074	-0.3782	10	0.45353	T	0.12	.	12.9704	0.58510	0.0:0.0:0.0:1.0	.	117	Q16602	CALRL_HUMAN	C	117	ENSP00000376177:S117C;ENSP00000386972:S117C;ENSP00000387190:S117C	ENSP00000376177:S117C	S	-	1	0	CALCRL	187953498	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	5.698000	0.68302	2.225000	0.72522	0.460000	0.39030	AGC		0.323	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		117	114	0	0	0	0.01441	0	117	114				
CPS1	1373	broad.mit.edu	37	2	211512694	211512694	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:211512694C>A	ENST00000233072.5	+	26	3445	c.3249C>A	c.(3247-3249)atC>atA	p.I1083I	CPS1_ENST00000451903.2_Silent_p.I632I|CPS1_ENST00000430249.2_Silent_p.I1089I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1083					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.I1083I(1)|p.I1089I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCCTGCAGATCGACAGGGCTG	0.502																																							uc002vee.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3247-3249)ATC>ATA		carbamoyl-phosphate synthetase 1 isoform b							114.0	106.0	109.0					2																	211512694		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211512694C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3249C>A	2.37:g.211512694C>A						CPS1_uc010fur.2_Silent_p.I1089I|CPS1_uc010fus.2_Silent_p.I632I	p.I1083I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	26	3381	+			1083					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3249C>A	CCDS2393.1																																																																																				0.502	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			42	58	1	0	1.44828e-35	0.010771	2.22155e-35	42	58				
IGFBP2	3485	broad.mit.edu	37	2	217525440	217525440	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:217525440G>C	ENST00000233809.4	+	2	732	c.603G>C	c.(601-603)caG>caC	p.Q201H	IGFBP2_ENST00000456764.1_Missense_Mutation_p.Q57H	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	201					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)	p.Q201H(1)		endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		AGCACCGGCAGATGGGCAAGG	0.647																																							uc010zjt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(580-582)CAG>CAC		insulin-like growth factor binding protein 2,							26.0	30.0	29.0					2																	217525440		2060	4196	6256	SO:0001583	missense	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217525440G>C		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.603G>C	2.37:g.217525440G>C	ENSP00000233809:p.Gln201His					IGFBP2_uc010zju.1_Missense_Mutation_p.Q129H	p.Q194H	NM_000597	NP_000588	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	4	732	+		Renal(323;0.0458)	201					Q14619|Q9UCL3	Missense_Mutation	SNP	ENST00000233809.4	37	c.582G>C	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050394	0.55218	.	.	ENSG00000115457	ENST00000434997;ENST00000233809;ENST00000456764	T;T	0.08282	3.12;3.11	4.27	0.12	0.14691	.	0.761364	0.12657	N	0.449914	T	0.16257	0.0391	L	0.39898	1.24	0.45464	D	0.99843	D;D	0.67145	0.996;0.989	D;P	0.75484	0.986;0.827	T	0.06303	-1.0834	10	0.46703	T	0.11	-28.3069	7.6738	0.28473	0.5015:0.0:0.4985:0.0	.	235;201	Q59FF1;P18065	.;IBP2_HUMAN	H	35;201;57	ENSP00000233809:Q201H;ENSP00000389646:Q57H	ENSP00000233809:Q201H	Q	+	3	2	IGFBP2	217233685	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	0.901000	0.28445	-0.188000	0.10499	0.561000	0.74099	CAG		0.647	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		4	17	0	0	0	0.009096	0	4	17				
RNF25	64320	broad.mit.edu	37	2	219529494	219529494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219529494C>A	ENST00000295704.2	-	9	1209	c.769G>T	c.(769-771)Gag>Tag	p.E257*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	257					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E257*(1)|p.E257Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTTTCGCTCAGCCTCAAGG	0.567																																							uc002vit.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(769-771)GAG>TAG		ring finger protein 25							113.0	101.0	105.0					2																	219529494		2203	4300	6503	SO:0001587	stop_gained	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529494C>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.769G>T	2.37:g.219529494C>A	ENSP00000295704:p.Glu257*					RNF25_uc010fvw.2_Nonsense_Mutation_p.E145*	p.E257*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	857	-		Renal(207;0.0474)	257					A8K0D6|Q53HQ5|Q9H874	Nonsense_Mutation	SNP	ENST00000295704.2	37	c.769G>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382641	0.98786	.	.	ENSG00000163481	ENST00000295704	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.365	18.5438	0.91039	0.0:1.0:0.0:0.0	.	.	.	.	X	257	.	ENSP00000295704:E257X	E	-	1	0	RNF25	219237738	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.471000	0.73562	2.826000	0.97356	0.561000	0.74099	GAG		0.567	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		31	27	1	0	1.22384e-17	0.013726	1.68358e-17	31	27				
TTLL4	9654	broad.mit.edu	37	2	219614060	219614060	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219614060G>T	ENST00000392102.1	+	14	3025	c.2685G>T	c.(2683-2685)atG>atT	p.M895I	TTLL4_ENST00000442769.1_Missense_Mutation_p.M831I|TTLL4_ENST00000258398.4_Missense_Mutation_p.M895I|TTLL4_ENST00000457313.1_Missense_Mutation_p.M730I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	895	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.M895I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTGACATCATGCTAGACGAAA	0.493																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2683-2685)ATG>ATT		tubulin tyrosine ligase-like family, member 4							159.0	132.0	141.0					2																	219614060		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219614060G>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2685G>T	2.37:g.219614060G>T	ENSP00000375951:p.Met895Ile					TTLL4_uc010zkl.1_Missense_Mutation_p.M730I|TTLL4_uc010fvx.2_Missense_Mutation_p.M831I|TTLL4_uc010zkm.1_Missense_Mutation_p.M98I	p.M895I	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	14	3055	+		Renal(207;0.0915)	895			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2685G>T	CCDS2422.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.6|22.6|22.6	4.305754|4.305754|4.305754	0.81247|0.81247|0.81247	.|.|.	.|.|.	ENSG00000135912|ENSG00000135912|ENSG00000135912	ENST00000436668|ENST00000448224|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|.|T;T;T;T	.|.|0.05580	.|.|3.42;3.42;3.42;3.42	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|ATP-grasp fold, subdomain 2 (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.07863|0.07863|0.07863	0.0197|0.0197|0.0197	N|N|N	0.20401|0.20401|0.20401	0.57|0.57|0.57	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;P;B	.|.|0.39576	.|.|0.379;0.374;0.679;0.083	.|.|B;B;B;B	.|.|0.42112	.|.|0.124;0.212;0.376;0.262	T|T|T	0.38156|0.38156|0.38156	-0.9674|-0.9674|-0.9674	5|5|10	.|.|0.39692	.|.|T	.|.|0.17	.|.|.	19.2867|19.2867|19.2867	0.94077|0.94077|0.94077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|98;730;831;895	.|.|B4DJF5;E9PH58;E7EX20;Q14679	.|.|.;.;.;TTLL4_HUMAN	S|F|I	40|186|730;895;831;895	.|.|ENSP00000393332:M730I;ENSP00000375951:M895I;ENSP00000396555:M831I;ENSP00000258398:M895I	.|.|ENSP00000258398:M895I	A|C|M	+|+|+	1|2|3	0|0|0	TTLL4|TTLL4|TTLL4	219322304|219322304|219322304	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	7.949000|7.949000|7.949000	0.87791|0.87791|0.87791	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|TGC|ATG		0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		36	40	1	0	6.53348e-20	0.003755	9.15743e-20	36	40				
CCDC108	255101	broad.mit.edu	37	2	219870197	219870197	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:219870197C>T	ENST00000341552.5	-	32	5093	c.5010G>A	c.(5008-5010)caG>caA	p.Q1670Q	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.Q1670Q|CCDC108_ENST00000441968.1_Silent_p.Q1670Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1670						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Q1670Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTTCTTCTGCTTGGAAA	0.552																																							uc002vjl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(5008-5010)CAG>CAA		coiled-coil domain containing 108 isoform 1							132.0	127.0	129.0					2																	219870197		2202	4300	6502	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219870197C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5010G>A	2.37:g.219870197C>T							p.Q1670Q	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	32	5094	-		Renal(207;0.0915)	1670					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.5010G>A	CCDS2430.2																																																																																				0.552	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		23	74	0	0	0	0.00278	0	23	74				
SPEG	10290	broad.mit.edu	37	2	220333758	220333758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:220333758C>A	ENST00000312358.7	+	12	3611	c.3479C>A	c.(3478-3480)gCc>gAc	p.A1160D	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1160					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A1160D(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGACAGCCGCCTCAGGCCCC	0.692																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3478-3480)GCC>GAC		SPEG complex locus							25.0	31.0	29.0					2																	220333758		1886	4100	5986	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220333758C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3479C>A	2.37:g.220333758C>A	ENSP00000311684:p.Ala1160Asp						p.A1160D	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	12	3479	+		Renal(207;0.0183)	1160					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3479C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182256	0.38511	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64260	-0.09	4.77	4.77	0.60923	Immunoglobulin-like fold (1);	0.170901	0.28114	N	0.016556	T	0.46190	0.1380	N	0.08118	0	0.80722	D	1	P	0.46706	0.883	B	0.43508	0.422	T	0.46428	-0.9192	10	0.23891	T	0.37	.	17.989	0.89163	0.0:1.0:0.0:0.0	.	1160	Q15772	SPEG_HUMAN	D	1160	ENSP00000311684:A1160D	ENSP00000265327:A1160D	A	+	2	0	SPEG	220042002	1.000000	0.71417	0.921000	0.36526	0.328000	0.28507	5.451000	0.66632	2.490000	0.84030	0.655000	0.94253	GCC		0.692	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		15	32	1	0	1.5739e-10	0.004007	1.93481e-10	15	32				
SCG2	7857	broad.mit.edu	37	2	224462309	224462309	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:224462309C>T	ENST00000305409.2	-	2	1924	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P564P(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTTGCTCACCGGGGCCAGCT	0.498																																							uc002vnm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1690-1692)CCG>CCA		secretogranin II precursor							84.0	84.0	84.0					2																	224462309		2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462309C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1692G>A	2.37:g.224462309C>T							p.P564P	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1825	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	564					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.1692G>A	CCDS2457.1																																																																																				0.498	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		34	52	0	0	0	0.003271	0	34	52				
NMUR1	10316	broad.mit.edu	37	2	232389976	232389976	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:232389976G>T	ENST00000305141.4	-	3	1192	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	353					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.P353P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TATAGAGCACGGGGTTGGCCG	0.657																																							uc002vry.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(1057-1059)CCC>CCA		neuromedin U receptor 1							65.0	64.0	64.0					2																	232389976		2203	4300	6503	SO:0001819	synonymous_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232389976G>T	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1059C>A	2.37:g.232389976G>T							p.P353P	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1169	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	353			Helical; Name=7; (Potential).		O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	c.1059C>A	CCDS2486.1																																																																																				0.657	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		10	49	1	0	7.03913e-09	0.013537	8.37608e-09	10	49				
ANKMY1	51281	broad.mit.edu	37	2	241421603	241421603	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:241421603C>A	ENST00000272972.3	-	15	2829	c.2615G>T	c.(2614-2616)gGg>gTg	p.G872V	ANKMY1_ENST00000406958.1_Missense_Mutation_p.G633V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G642V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G648V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G774V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G651V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G961V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G872V	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	872							metal ion binding (GO:0046872)	p.G872V(1)|p.G648V(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACTTACTGCCCCTGCTCCTT	0.617																																							uc002vyz.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2614-2616)GGG>GTG		ankyrin repeat and MYND domain containing 1							106.0	98.0	100.0					2																	241421603		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241421603C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2615G>T	2.37:g.241421603C>A	ENSP00000272972:p.Gly872Val					ANKMY1_uc002vza.1_Missense_Mutation_p.G648V|ANKMY1_uc010fzd.1_Missense_Mutation_p.G961V|ANKMY1_uc002vzb.1_Missense_Mutation_p.G633V|ANKMY1_uc002vzc.1_Missense_Mutation_p.G651V|ANKMY1_uc002vzd.1_Missense_Mutation_p.G695V	p.G872V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	15	2844	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	872					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2615G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	7.152	0.583952	0.13749	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T;T	0.55930	2.9;3.62;0.5;2.23;0.5;4.38;2.47;0.49	2.01	-2.69	0.06022	.	1.715750	0.03943	U	0.287207	T	0.57036	0.2026	L	0.43152	1.355	0.09310	N	1	P;P;P;D;D;P	0.67145	0.627;0.949;0.789;0.996;0.991;0.627	B;P;B;P;P;B	0.59487	0.105;0.578;0.348;0.806;0.858;0.105	T	0.52320	-0.8591	10	0.46703	T	0.11	.	5.9493	0.19237	0.0:0.5166:0.0:0.4834	.	872;642;651;633;648;872	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	V	651;633;872;648;872;642;774;961	ENSP00000362415:G651V;ENSP00000384555:G633V;ENSP00000272972:G872V;ENSP00000355097:G648V;ENSP00000375847:G872V;ENSP00000362417:G642V;ENSP00000383968:G774V;ENSP00000385887:G961V	ENSP00000272972:G872V	G	-	2	0	ANKMY1	241070276	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.442000	0.06871	-0.506000	0.06558	-0.670000	0.03821	GGG		0.617	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		36	65	1	0	1.30015e-28	0.004878	1.97107e-28	36	65				
HAO1	54363	broad.mit.edu	37	20	7920967	7920967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:7920967C>A	ENST00000378789.3	-	1	154	c.103G>T	c.(103-105)Gaa>Taa	p.E35*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	35	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.E35*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAAAGTTTCTTCATCATTT	0.323																																							uc002wmw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(103-105)GAA>TAA		hydroxyacid oxidase 1							66.0	65.0	65.0					20																	7920967		2203	4300	6503	SO:0001587	stop_gained	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7920967C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.103G>T	20.37:g.7920967C>A	ENSP00000368066:p.Glu35*					HAO1_uc010gbu.2_Nonsense_Mutation_p.E35*	p.E35*	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			1	127	-			35			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Nonsense_Mutation	SNP	ENST00000378789.3	37	c.103G>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563488	0.96527	.	.	ENSG00000101323	ENST00000378789	.	.	.	5.16	5.16	0.70880	.	0.239069	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.3059	12.7897	0.57526	0.0:0.7219:0.2781:0.0	.	.	.	.	X	35	.	ENSP00000368066:E35X	E	-	1	0	HAO1	7868967	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	1.904000	0.39868	2.548000	0.85928	0.561000	0.74099	GAA		0.323	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			18	10	1	0	2.35188e-11	0.006122	2.96839e-11	18	10				
PCSK2	5126	broad.mit.edu	37	20	17446099	17446099	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:17446099A>G	ENST00000262545.2	+	11	1646	c.1331A>G	c.(1330-1332)tAc>tGc	p.Y444C	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.Y409C|PCSK2_ENST00000377899.1_Missense_Mutation_p.Y425C	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	444	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.Y444C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTCTTTGGCTACGGGGTCCTT	0.562																																							uc002wpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1330-1332)TAC>TGC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						94.0	71.0	78.0					20																	17446099		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446099A>G	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1331A>G	20.37:g.17446099A>G	ENSP00000262545:p.Tyr444Cys					PCSK2_uc002wpl.2_Missense_Mutation_p.Y425C|PCSK2_uc010zrm.1_Missense_Mutation_p.Y409C|PCSK2_uc002wpn.2_Missense_Mutation_p.Y98C	p.Y444C	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1651	+			444					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1331A>G	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101530	0.76983	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88664	-2.41;-2.41;-2.41	5.41	5.41	0.78517	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.989	D	0.95797	0.8829	10	0.87932	D	0	-23.8966	14.2713	0.66154	1.0:0.0:0.0:0.0	.	409;425;444	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	C	425;444;409	ENSP00000367131:Y425C;ENSP00000262545:Y444C;ENSP00000437458:Y409C	ENSP00000262545:Y444C	Y	+	2	0	PCSK2	17394099	1.000000	0.71417	0.991000	0.47740	0.877000	0.50540	8.948000	0.93006	2.052000	0.61016	0.454000	0.30748	TAC		0.562	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	8	0	0	0	0.001168	0	6	8				
XKR7	343702	broad.mit.edu	37	20	30584765	30584765	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:30584765C>T	ENST00000562532.2	+	3	1419	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	415						integral component of membrane (GO:0016021)		p.L415L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCTACTCGCTCATCATGGTCT	0.592																																							uc002wxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1243-1245)CTC>CTT		XK, Kell blood group complex subunit-related							99.0	91.0	94.0					20																	30584765		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584765C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1245C>T	20.37:g.30584765C>T							p.L415L	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1419	+			415			Helical; (Potential).		Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1245C>T	CCDS33459.1																																																																																				0.592	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		11	55	0	0	0	0.003163	0	11	55				
SLC12A5	57468	broad.mit.edu	37	20	44676138	44676138	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:44676138C>T	ENST00000454036.2	+	15	1951	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	SLC12A5_ENST00000243964.3_Silent_p.F611F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	634					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.F611F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCTCATGTTCATCTGCTCCT	0.577																																							uc010zxl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1900-1902)TTC>TTT		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						169.0	156.0	160.0					20																	44676138		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44676138C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1902C>T	20.37:g.44676138C>T						SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.F611F	p.F634F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			15	1978	+		Myeloproliferative disorder(115;0.0122)	634			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1902C>T	CCDS46610.1																																																																																				0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			12	166	0	0	0	0.010729	0	12	166				
TSHZ2	128553	broad.mit.edu	37	20	51872733	51872733	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:51872733G>T	ENST00000371497.5	+	2	3623	c.2736G>T	c.(2734-2736)ggG>ggT	p.G912G	TSHZ2_ENST00000603338.2_Silent_p.G909G|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.G909G	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	912					multicellular organismal development (GO:0007275)|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.G912G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAACGGGCGGGACAAAATTTC	0.473																																							uc002xwo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2734-2736)GGG>GGT		teashirt zinc finger homeobox 2							68.0	69.0	69.0					20																	51872733		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872733G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2736G>T	20.37:g.51872733G>T							p.G912G	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3692	+			912					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2736G>T	CCDS33490.1																																																																																				0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		13	53	1	0	4.14922e-12	0.004007	5.34058e-12	13	53				
BCAS1	8537	broad.mit.edu	37	20	52561526	52561526	+	Missense_Mutation	SNP	G	G	A	rs147771144		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:52561526G>A	ENST00000395961.3	-	12	1856	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	BCAS1_ENST00000371435.2_Missense_Mutation_p.R486W|BCAS1_ENST00000434986.2_Missense_Mutation_p.R230W|BCAS1_ENST00000371440.3_Missense_Mutation_p.R573W|AC005220.3_ENST00000450473.1_RNA	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	564						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R564W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCAACATCCGCTTTGGTCCC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		20536	0.0		0.001	False		,,,				2504	0.0						uc002xws.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1690-1692)CGG>TGG		breast carcinoma amplified sequence 1		G	TRP/ARG	0,4406		0,0,2203	260.0	232.0	242.0		1690	5.2	1.0	20	dbSNP_134	242	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCAS1	NM_003657.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	564/585	52561526	1,13005	2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52561526G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1690C>T	20.37:g.52561526G>A	ENSP00000379290:p.Arg564Trp					BCAS1_uc010zza.1_Missense_Mutation_p.R230W|BCAS1_uc010zzb.1_Missense_Mutation_p.R490W|BCAS1_uc010gim.2_Missense_Mutation_p.R420W|BCAS1_uc002xwt.2_Missense_Mutation_p.R550W|BCAS1_uc010gil.1_Missense_Mutation_p.R486W	p.R564W	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		12	2028	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		564					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1690C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917775	0.73098	0.0	1.16E-4	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	T;T;T;T;T	0.56103	1.05;1.29;1.24;1.09;0.48	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	T	0.68760	0.3036	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;1.0	T	0.71672	-0.4522	10	0.87932	D	0	-9.0023	11.5302	0.50604	0.0:0.0:0.8086:0.1914	.	564;230;573;486;564;564	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	W	435;573;364;564;486;230	ENSP00000396361:R435W;ENSP00000360495:R573W;ENSP00000379290:R564W;ENSP00000360490:R486W;ENSP00000409956:R230W	ENSP00000360490:R486W	R	-	1	2	BCAS1	51994933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.021000	0.57196	2.423000	0.82170	0.561000	0.74099	CGG		0.478	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		25	139	0	0	0	0.004656	0	25	139				
COL9A3	1299	broad.mit.edu	37	20	61461022	61461023	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:61461022_61461023CC>AA	ENST00000343916.3	+	21	1099_1100	c.1096_1097CC>AA	c.(1096-1098)CCa>AAa	p.P366K		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	366	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P366K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTCTGGAGAGCCAGGCGTCCCT	0.658																																							uc002ydm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)CCA>AAA		alpha 3 type IX collagen precursor																																				SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61461022_61461023CC>AA	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	Exception_encountered	20.37:g.61461022_61461023delinsAA	ENSP00000341640:p.Pro366Lys						p.P366K	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			21	1099_1100	+	Breast(26;5.68e-08)		366			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	DNP	ENST00000343916.3	37	c.1096_1097CC>AA	CCDS13505.1																																																																																				0.658	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		5	3	0	0	0	0.004672	0	5	3				
ARFGAP1	55738	broad.mit.edu	37	20	61907553	61907553	+	Splice_Site	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:61907553G>T	ENST00000370283.4	+	3	310		c.e3+1		ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000519273.2_Splice_Site|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000353546.3_Splice_Site|ARFGAP1_ENST00000370275.4_Splice_Site	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TTCACCTCAGGTCAGTGTCCT	0.647																																							uc002yem.2		NA																	1	Unknown(1)		lung(1)	pancreas(1)	1						c.e3+1		ADP-ribosylation factor GTPase activating							59.0	55.0	56.0					20																	61907553		2203	4300	6503	SO:0001630	splice_region_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907553G>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.170+1G>T	20.37:g.61907553G>T						ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_Splice_Site|ARFGAP1_uc002yel.2_Splice_Site_p.S57_splice|ARFGAP1_uc002yen.2_Splice_Site_p.S57_splice	p.S57_splice	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			3	282	+	all_cancers(38;1.59e-09)							B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Splice_Site	SNP	ENST00000370283.4	37	c.170_splice	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377625	0.61735	.	.	ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARFGAP1	61377998	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.260000	0.95568	2.310000	0.77875	0.462000	0.41574	.		0.647	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	Intron	36	37	1	0	1.66425e-11	0.004878	2.11592e-11	36	37				
KCNQ2	3785	broad.mit.edu	37	20	62046380	62046380	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr20:62046380G>T	ENST00000359125.2	-	13	1575	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	KCNQ2_ENST00000344462.4_Silent_p.P437P|KCNQ2_ENST00000359689.1_Silent_p.P467P|KCNQ2_ENST00000360480.3_Silent_p.P439P|KCNQ2_ENST00000370224.1_Silent_p.P439P|KCNQ2_ENST00000354587.3_Silent_p.P439P|KCNQ2_ENST00000357249.2_Silent_p.P449P	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	467					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P467P(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGTCGGCGCTGGGTGACCGCC	0.672																																							uc002yey.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1399-1401)CCC>CCA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						36.0	40.0	39.0					20																	62046380		2203	4299	6502	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62046380G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1401C>A	20.37:g.62046380G>T						KCNQ2_uc002yez.1_Silent_p.P437P|KCNQ2_uc002yfa.1_Silent_p.P449P|KCNQ2_uc002yfb.1_Silent_p.P439P	p.P467P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		13	1578	-	all_cancers(38;1.24e-11)		467			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.1401C>A	CCDS13520.1																																																																																				0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		41	23	1	0	1.30091e-30	0.006999	1.98963e-30	41	23				
MRPL39	54148	broad.mit.edu	37	21	26966223	26966223	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:26966223C>G	ENST00000352957.4	-	7	790	c.749G>C	c.(748-750)aGa>aCa	p.R250T	MRPL39_ENST00000307301.7_Missense_Mutation_p.R250T	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	250						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R250T(2)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CTTGACTATTCTCTCAGGGTT	0.333																																							uc002ylo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(748-750)AGA>ACA		mitochondrial ribosomal protein L39 isoform a							163.0	162.0	162.0					21																	26966223		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26966223C>G	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.749G>C	21.37:g.26966223C>G	ENSP00000284967:p.Arg250Thr					MRPL39_uc002yln.2_Missense_Mutation_p.R250T	p.R250T	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			7	763	-			250					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.749G>C	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108858	0.56398	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.39056	1.1;1.1;1.1	4.94	4.94	0.65067	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.231325	0.44285	D	0.000464	T	0.34658	0.0905	N	0.25647	0.755	0.38063	D	0.936125	P;P	0.37985	0.458;0.613	B;B	0.41271	0.352;0.352	T	0.12344	-1.0551	10	0.13108	T	0.6	-16.0824	17.9239	0.88976	0.0:1.0:0.0:0.0	.	250;250	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	T	250;250;240	ENSP00000284967:R250T;ENSP00000305682:R250T;ENSP00000404426:R240T	ENSP00000305682:R250T	R	-	2	0	MRPL39	25888094	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.444000	0.66587	2.569000	0.86673	0.561000	0.74099	AGA		0.333	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		7	76	0	0	0	0.004482	0	7	76				
KRTAP6-1	337966	broad.mit.edu	37	21	31986171	31986171	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:31986171C>A	ENST00000329122.2	-	1	78	c.53G>T	c.(52-54)tGt>tTt	p.C18F	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	18						cytosol (GO:0005829)|intermediate filament (GO:0005882)		p.C18F(1)		breast(2)|endometrium(1)|lung(7)	10						TCCATAGCCACAGAACCCATA	0.577																																							uc002yop.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)TGT>TTT		keratin associated protein 6-1							190.0	185.0	186.0					21																	31986171		2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986171C>A	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.53G>T	21.37:g.31986171C>A	ENSP00000332690:p.Cys18Phe					KRTAP20-1_uc011ade.1_5'Flank	p.C18F	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			1	53	-			18						Missense_Mutation	SNP	ENST00000329122.2	37	c.53G>T	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244952	0.22796	.	.	ENSG00000184724	ENST00000329122	T	0.28666	1.6	5.03	3.19	0.36642	.	0.520885	0.14216	U	0.333752	T	0.35682	0.0940	.	.	.	0.25997	N	0.982174	P	0.49696	0.927	P	0.52189	0.692	T	0.23404	-1.0189	9	0.87932	D	0	.	4.1228	0.10112	0.2035:0.6315:0.0:0.165	.	18	Q3LI64	KRA61_HUMAN	F	18	ENSP00000332690:C18F	ENSP00000332690:C18F	C	-	2	0	KRTAP6-1	30908042	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	1.848000	0.39309	1.478000	0.48253	0.643000	0.83706	TGT		0.577	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		32	95	1	0	1.06801e-11	0.009535	1.36454e-11	32	95				
TIAM1	7074	broad.mit.edu	37	21	32526612	32526612	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:32526612G>T	ENST00000286827.3	-	18	3595	c.3124C>A	c.(3124-3126)Cgc>Agc	p.R1042S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R982S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1042C(2)|p.R1042S(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCACCTTGCGCAGCTTATCT	0.567																																							uc002yow.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3124-3126)CGC>AGC		T-cell lymphoma invasion and metastasis 1							93.0	86.0	88.0					21																	32526612		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526612G>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3124C>A	21.37:g.32526612G>T	ENSP00000286827:p.Arg1042Ser					TIAM1_uc011adk.1_Missense_Mutation_p.R1042S|TIAM1_uc011adl.1_Missense_Mutation_p.R982S	p.R1042S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			18	3596	-			1042			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3124C>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175873	0.94807	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.68765	-0.35;-0.35	6.17	6.17	0.99709	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.78309	-0.2254	10	0.66056	D	0.02	.	17.0623	0.86550	0.0:0.0:0.8725:0.1275	.	982;982;1042	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	S	1042;883;982	ENSP00000286827:R1042S;ENSP00000441570:R982S	ENSP00000286827:R1042S	R	-	1	0	TIAM1	31448483	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.725000	0.84808	2.941000	0.99782	0.655000	0.94253	CGC		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		34	48	1	0	7.11191e-15	0.013726	9.53142e-15	34	48				
DSCAM	1826	broad.mit.edu	37	21	41560998	41560998	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:41560998C>A	ENST00000400454.1	-	12	3001	c.2524G>T	c.(2524-2526)Gtg>Ttg	p.V842L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	842	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V842L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTTCTCCCACCTCCTTGGTG	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2524-2526)GTG>TTG		Down syndrome cell adhesion molecule isoform							147.0	144.0	145.0					21																	41560998		1944	4140	6084	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41560998C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2524G>T	21.37:g.41560998C>A	ENSP00000383303:p.Val842Leu					DSCAM_uc002yyr.1_RNA	p.V842L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			12	2976	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	842			Ig-like C2-type 9.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2524G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990559	0.35131	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.38240	1.15;1.15	5.28	3.46	0.39613	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465307	0.21957	N	0.066646	T	0.22399	0.0540	N	0.16790	0.44	0.32201	N	0.577818	B	0.19200	0.034	B	0.26310	0.068	T	0.23368	-1.0190	10	0.17832	T	0.49	.	10.8994	0.47043	0.0:0.7984:0.1305:0.0711	.	842	O60469	DSCAM_HUMAN	L	842;594	ENSP00000383303:V842L;ENSP00000385342:V594L	ENSP00000383303:V842L	V	-	1	0	DSCAM	40482868	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.986000	0.56937	0.589000	0.29677	0.561000	0.74099	GTG		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		62	71	1	0	6.52717e-41	0.01441	1.01016e-40	62	71				
LSS	4047	broad.mit.edu	37	21	47648438	47648438	+	Missense_Mutation	SNP	C	C	G	rs565392079		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr21:47648438C>G	ENST00000397728.3	-	2	168	c.90G>C	c.(88-90)gaG>gaC	p.E30D	LSS_ENST00000356396.4_Missense_Mutation_p.E30D|MCM3AP-AS1_ENST00000591223.1_RNA|LSS_ENST00000464357.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|LSS_ENST00000457828.2_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|LSS_ENST00000522411.1_Missense_Mutation_p.E30D|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	30					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.E30D(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCGGCCCCTCTCGCAGTTGA	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		9806	0.0		0.0	False		,,,				2504	0.0				Pancreas(114;955 2313 34923 50507)	Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(88-90)GAG>GAC		lanosterol synthase isoform 1							9.0	11.0	11.0					21																	47648438		2129	4195	6324	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47648438C>G	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.90G>C	21.37:g.47648438C>G	ENSP00000380837:p.Glu30Asp					LSS_uc011afv.1_Missense_Mutation_p.E30D|LSS_uc002zil.2_Missense_Mutation_p.E30D|LSS_uc002zik.2_5'UTR|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	p.E30D	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			2	169	-	Breast(49;0.214)		30					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.90G>C	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684421	0.14907	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.95	4.05	0.47172	.	0.665354	0.14577	N	0.311130	T	0.17109	0.0411	N	0.11789	0.175	0.48975	D	0.999735	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07121	-1.0789	10	0.07030	T	0.85	.	8.1945	0.31387	0.0:0.8189:0.0:0.1811	.	30;30	E9PEI9;P48449	.;ERG7_HUMAN	D	30;30;30;31	ENSP00000348762:E30D;ENSP00000380837:E30D;ENSP00000429133:E30D;ENSP00000391368:E31D	ENSP00000348762:E30D	E	-	3	2	LSS	46472866	0.001000	0.12720	0.006000	0.13384	0.103000	0.19146	0.919000	0.28692	2.305000	0.77605	0.455000	0.32223	GAG		0.716	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			6	38	0	0	0	0.001984	0	6	38				
CCT8L2	150160	broad.mit.edu	37	22	17072901	17072901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:17072901C>A	ENST00000359963.3	-	1	799	c.540G>T	c.(538-540)ttG>ttT	p.L180F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	180					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.L180F(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAGCTTGGTCAAGTGGTCCA	0.622																																							uc002zlp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)TTG>TTT		T-complex protein 1							68.0	65.0	66.0					22																	17072901		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072901C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.540G>T	22.37:g.17072901C>A	ENSP00000353048:p.Leu180Phe						p.L180F	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	800	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	180					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.540G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.304237	0.40795	.	.	ENSG00000198445	ENST00000359963	D	0.81659	-1.52	1.98	0.885	0.19188	.	0.000000	0.28996	U	0.013474	D	0.83594	0.5288	M	0.73217	2.22	0.23581	N	0.997369	D	0.60575	0.988	D	0.66497	0.944	T	0.71434	-0.4594	10	0.35671	T	0.21	-10.63	4.5091	0.11903	0.0:0.789:0.0:0.211	.	180	Q96SF2	TCPQM_HUMAN	F	180	ENSP00000353048:L180F	ENSP00000353048:L180F	L	-	3	2	CCT8L2	15452901	0.083000	0.21467	0.387000	0.26183	0.211000	0.24417	0.451000	0.21779	0.168000	0.19655	0.379000	0.24179	TTG		0.622	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			11	82	1	0	5.50884e-06	0.013537	6.06906e-06	11	82				
GRAMD4	23151	broad.mit.edu	37	22	47069627	47069627	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr22:47069627G>A	ENST00000406902.1	+	15	1513	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Missense_Mutation_p.E434K			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	434					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E434K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGGTAAAGAGGAGGACGCCGG	0.627																																							uc003bhx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1300-1302)GAG>AAG		death-inducing-protein							89.0	97.0	94.0					22																	47069627		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069627G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1300G>A	22.37:g.47069627G>A	ENSP00000385689:p.Glu434Lys					GRAMD4_uc010had.2_Missense_Mutation_p.E373K|GRAMD4_uc003bhy.2_5'Flank	p.E434K	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	14	1339	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	434					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.1300G>A	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.978983	0.74360	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.45276	0.9;0.9	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	T	0.32436	0.0829	L	0.36672	1.1	0.58432	D	0.999999	P	0.40050	0.7	B	0.31547	0.132	T	0.22243	-1.0222	10	0.48119	T	0.1	-31.5496	16.7981	0.85607	0.0:0.0:1.0:0.0	.	434	Q6IC98	GRAM4_HUMAN	K	434	ENSP00000385689:E434K;ENSP00000354313:E434K	ENSP00000354313:E434K	E	+	1	0	GRAMD4	45448291	1.000000	0.71417	0.318000	0.25279	0.777000	0.43975	8.469000	0.90395	2.298000	0.77334	0.313000	0.20887	GAG		0.627	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		16	70	0	0	0	0.006122	0	16	70				
CNTN6	27255	broad.mit.edu	37	3	1269653	1269653	+	Missense_Mutation	SNP	C	C	T	rs374599521		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:1269653C>T	ENST00000446702.2	+	4	961	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	CNTN6_ENST00000539053.1_Missense_Mutation_p.R40W|CNTN6_ENST00000350110.2_Missense_Mutation_p.R112W			Q9UQ52	CNTN6_HUMAN	contactin 6	112	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R112W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATTCTGAGTCGGAAGGCAAA	0.408																																							uc003boz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(334-336)CGG>TGG		contactin 6 precursor		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	137.0	134.0	135.0		334	4.5	1.0	3		135	0,8600		0,0,4300	no	missense	CNTN6	NM_014461.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	112/1029	1269653	2,13004	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269653C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.334C>T	3.37:g.1269653C>T	ENSP00000407822:p.Arg112Trp					CNTN6_uc010hbo.2_Missense_Mutation_p.R107W|CNTN6_uc011asj.1_Missense_Mutation_p.R40W|CNTN6_uc003bpa.2_Missense_Mutation_p.R112W	p.R112W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	601	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	112			Ig-like C2-type 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.334C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867113	0.72065	4.54E-4	0.0	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.44482	1.03;0.92;1.03	5.38	4.48	0.54585	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.384441	0.21528	N	0.073088	T	0.70631	0.3246	M	0.92169	3.28	0.50171	D	0.999853	D;D	0.89917	0.999;1.0	P;D	0.74674	0.556;0.984	T	0.77653	-0.2507	10	0.87932	D	0	.	12.6167	0.56580	0.4539:0.5461:0.0:0.0	.	40;112	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	W	112;40;112	ENSP00000407822:R112W;ENSP00000442791:R40W;ENSP00000341882:R112W	ENSP00000341882:R112W	R	+	1	2	CNTN6	1244653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.317000	0.43770	1.332000	0.45431	0.557000	0.71058	CGG		0.408	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		18	73	0	0	0	0.007413	0	18	73				
CNTN4	152330	broad.mit.edu	37	3	3085352	3085352	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:3085352G>C	ENST00000397461.1	+	22	3159	c.2775G>C	c.(2773-2775)aaG>aaC	p.K925N	CNTN4_ENST00000448906.2_Missense_Mutation_p.K597N|CNTN4_ENST00000397459.2_Missense_Mutation_p.K597N|CNTN4_ENST00000418658.1_Missense_Mutation_p.K925N|CNTN4_ENST00000358480.3_Missense_Mutation_p.K706N|CNTN4_ENST00000427331.1_Missense_Mutation_p.K925N|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	925	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.K925N(1)|p.K597N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCAAGTGAAGGCCCTGGATA	0.413																																							uc003bpc.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2773-2775)AAG>AAC		contactin 4 isoform a precursor							70.0	71.0	71.0					3																	3085352		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3085352G>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2775G>C	3.37:g.3085352G>C	ENSP00000380602:p.Lys925Asn					CNTN4_uc003bpe.2_Missense_Mutation_p.K597N|CNTN4_uc003bpf.2_Missense_Mutation_p.K596N|CNTN4_uc003bpg.2_Missense_Mutation_p.K181N	p.K925N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	22	2996	+		Ovarian(110;0.156)	925			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2775G>C	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390241	0.62066	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.61	2.42	0.29668	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.239668	0.40728	N	0.001024	T	0.54647	0.1871	M	0.83118	2.625	0.50467	D	0.999877	P;P	0.42973	0.763;0.796	P;P	0.55455	0.776;0.602	T	0.50642	-0.8804	10	0.31617	T	0.26	.	5.4328	0.16463	0.5515:0.0:0.4485:0.0	.	924;925	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	N	925;925;925;706;597;597	ENSP00000396010:K925N;ENSP00000380602:K925N;ENSP00000413642:K925N;ENSP00000351267:K706N;ENSP00000380600:K597N;ENSP00000392077:K597N	ENSP00000351267:K706N	K	+	3	2	CNTN4	3060352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.661000	0.37408	0.723000	0.32274	0.655000	0.94253	AAG		0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			6	27	0	0	0	0.001168	0	6	27				
KCNH8	131096	broad.mit.edu	37	3	19436748	19436748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:19436748G>T	ENST00000328405.2	+	7	1388	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C	KCNH8_ENST00000537696.1_Missense_Mutation_p.W15C|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	374					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.W374C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGTGTATCTGGTACGTCATTG	0.433																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1120-1122)TGG>TGT		potassium voltage-gated channel, subfamily H,							157.0	139.0	145.0					3																	19436748		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436748G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1122G>T	3.37:g.19436748G>T	ENSP00000328813:p.Trp374Cys					KCNH8_uc011awe.1_Missense_Mutation_p.W374C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.W5C	p.W374C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			7	1317	+			374			Helical; Name=Segment S5; (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1122G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629963	0.87660	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.97455	-4.39;1.82	5.79	5.79	0.91817	Ion transport (1);	0.000000	0.30920	U	0.008609	D	0.98852	0.9612	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99184	1.0868	9	.	.	.	.	20.0326	0.97545	0.0:0.0:1.0:0.0	.	15;374;374	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	C	374;15	ENSP00000328813:W374C;ENSP00000446294:W15C	.	W	+	3	0	KCNH8	19411752	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.869000	0.99810	2.732000	0.93576	0.557000	0.71058	TGG		0.433	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		20	40	1	0	8.10497e-08	0.010504	9.36575e-08	20	40				
SGOL1	151648	broad.mit.edu	37	3	20225228	20225228	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:20225228C>T	ENST00000263753.4	-	3	350	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SGOL1_ENST00000412868.1_Missense_Mutation_p.E71K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E71K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Missense_Mutation_p.E71K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E71K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E71K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E71K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E71K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E71K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E71K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E71K|SGOL1_ENST00000412997.1_Missense_Mutation_p.E71K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E71K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E71K	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	71	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.E71K(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTGGATTTTTCATTTTCCAAA	0.318																																							uc003cbs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAA>AAA		shugoshin-like 1 isoform A2							131.0	127.0	128.0					3																	20225228		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225228C>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.211G>A	3.37:g.20225228C>T	ENSP00000263753:p.Glu71Lys					SGOL1_uc003cbr.2_Missense_Mutation_p.E71K|SGOL1_uc010hfa.2_Missense_Mutation_p.E71K|SGOL1_uc003cbt.2_Missense_Mutation_p.E71K|SGOL1_uc003cbu.2_Missense_Mutation_p.E71K|SGOL1_uc003cbv.2_Missense_Mutation_p.E71K|SGOL1_uc003cbw.2_Missense_Mutation_p.E71K|SGOL1_uc003cbx.2_Missense_Mutation_p.E71K|SGOL1_uc003cby.2_Missense_Mutation_p.E71K|SGOL1_uc003cbz.2_Missense_Mutation_p.E71K|SGOL1_uc003cca.2_Missense_Mutation_p.E71K|SGOL1_uc003ccb.2_Missense_Mutation_p.E71K|SGOL1_uc003ccc.2_Missense_Mutation_p.E71K	p.E71K	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			3	398	-			71			Potential.|Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.211G>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667779	0.88348	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.69435	0.3;2.87;-0.4;0.3;-0.4;2.87;0.69;0.3;0.69;0.3	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.77820	2.39	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.993;0.976;0.989;0.994;0.993;0.984;0.988	D	0.84193	0.0446	10	0.87932	D	0	-30.0975	16.0061	0.80363	0.0:0.8656:0.1344:0.0	.	71;71;71;71;71;71;71	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	K	71	ENSP00000394625:E71K;ENSP00000263753:E71K;ENSP00000373284:E71K;ENSP00000414960:E71K;ENSP00000413070:E71K;ENSP00000414129:E71K;ENSP00000410458:E71K;ENSP00000389034:E71K;ENSP00000406880:E71K;ENSP00000394613:E71K	ENSP00000263753:E71K	E	-	1	0	SGOL1	20200232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.410000	0.59774	2.539000	0.85634	0.655000	0.94253	GAA		0.318	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		8	48	0	0	0	0.004482	0	8	48				
DCLK3	85443	broad.mit.edu	37	3	36779860	36779860	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:36779860C>A	ENST00000416516.2	-	2	781	c.291G>T	c.(289-291)agG>agT	p.R97S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R97S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATTTCCCCCTCCCCCACT	0.587																																							uc003cgi.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(289-291)AGG>AGT		doublecortin-like kinase 3							127.0	132.0	131.0					3																	36779860		1903	4108	6011	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779860C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.291G>T	3.37:g.36779860C>A	ENSP00000394484:p.Arg97Ser						p.R97S	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	782	-			97						Missense_Mutation	SNP	ENST00000416516.2	37	c.291G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	5.598	0.295112	0.10622	.	.	ENSG00000163673	ENST00000416516	T	0.72051	-0.62	4.24	0.162	0.14981	.	0.224776	0.22822	N	0.055218	T	0.50463	0.1617	L	0.27053	0.805	0.09310	N	1	B	0.25312	0.123	B	0.20577	0.03	T	0.41395	-0.9511	10	0.66056	D	0.02	.	5.1013	0.14760	0.1415:0.3608:0.0:0.4977	.	97	Q9C098	DCLK3_HUMAN	S	97	ENSP00000394484:R97S	ENSP00000394484:R97S	R	-	3	2	DCLK3	36754864	0.739000	0.28196	0.006000	0.13384	0.195000	0.23768	0.306000	0.19279	-0.098000	0.12285	0.655000	0.94253	AGG		0.587	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		69	105	1	0	6.52717e-41	0.01441	1.01016e-40	69	105				
MLH1	4292	broad.mit.edu	37	3	37089041	37089041	+	Missense_Mutation	SNP	T	T	G	rs63751486|rs63750575		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:37089041T>G	ENST00000231790.2	+	16	1979	c.1763T>G	c.(1762-1764)cTt>cGt	p.L588R	MLH1_ENST00000435176.1_Missense_Mutation_p.L490R|MLH1_ENST00000536378.1_Missense_Mutation_p.L347R|MLH1_ENST00000455445.2_Missense_Mutation_p.L347R|MLH1_ENST00000458205.2_Missense_Mutation_p.L347R|MLH1_ENST00000539477.1_Missense_Mutation_p.L347R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	588	Interaction with EXO1.		L -> P (in HNPCC2). {ECO:0000269|PubMed:10777691}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.L588R(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTTGCCATGCTTGCCTTAGAT	0.478		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		2	Substitution - Missense(1)|Whole gene deletion(1)	p.0?(1)	ovary(1)|lung(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77	GRCh37	CM001244	MLH1	M		c.(1762-1764)CTT>CGT	MMR	MutL protein homolog 1							112.0	104.0	107.0					3																	37089041		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37089041T>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1763T>G	3.37:g.37089041T>G	ENSP00000231790:p.Leu588Arg					MLH1_uc011aye.1_Missense_Mutation_p.L347R|MLH1_uc011ayb.1_Missense_Mutation_p.L347R|MLH1_uc010hge.2_Missense_Mutation_p.L588R|MLH1_uc003cgn.3_Missense_Mutation_p.L347R|MLH1_uc011ayc.1_Missense_Mutation_p.L490R|MLH1_uc011ayd.1_Missense_Mutation_p.L347R|MLH1_uc003cgo.2_Missense_Mutation_p.L347R|MLH1_uc010hgk.2_Intron|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Missense_Mutation_p.L2R|MLH1_uc010hgq.2_Intron	p.L588R	NM_000249	NP_000240	P40692	MLH1_HUMAN			16	1823	+			588		L -> P (in HNPCC2).	Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1763T>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.412590|4.412590	0.83340|0.83340	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378|ENST00000456676	D;D;D;D;D;D|D	0.94793|0.91843	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52|-2.92	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96479|0.96479	0.8851|0.8851	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.995;0.995;0.999|.	D;D;D;D|.	0.73380|.	0.98;0.935;0.935;0.963|.	D|D	0.96735|0.96735	0.9542|0.9542	10|8	0.87932|0.49607	D|T	0|0.09	-14.4681|-14.4681	15.7458|15.7458	0.77939|0.77939	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	490;588;588;588|.	E9PCU2;B2R6K0;Q53GX1;P40692|.	.;.;.;MLH1_HUMAN|.	R|V	588;452;347;347;347;490;347|580	ENSP00000231790:L588R;ENSP00000402667:L347R;ENSP00000443665:L347R;ENSP00000398272:L347R;ENSP00000402564:L490R;ENSP00000444286:L347R|ENSP00000416687:L580V	ENSP00000231790:L588R|ENSP00000416687:L580V	L|L	+|+	2|1	0|2	MLH1|MLH1	37064045|37064045	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.782000|0.782000	0.44232|0.44232	7.830000|7.830000	0.86741|0.86741	2.130000|2.130000	0.65690|0.65690	0.477000|0.477000	0.44152|0.44152	CTT|TTG		0.478	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		36	61	0	0	0	0.004289	0	36	61				
SCN11A	11280	broad.mit.edu	37	3	38950598	38950598	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:38950598C>G	ENST00000302328.3	-	9	1387	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	SCN11A_ENST00000444237.2_Missense_Mutation_p.A397P|SCN11A_ENST00000450244.1_Missense_Mutation_p.A397P|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.A397P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	397					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A397P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTAACAACAGCCAGGGTTAAG	0.473																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1189-1191)GCT>CCT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						176.0	171.0	173.0					3																	38950598		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38950598C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1189G>C	3.37:g.38950598C>G	ENSP00000307599:p.Ala397Pro						p.A397P	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	9	1388	-			397			I.|Helical; Name=S6 of repeat I; (By similarity).		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1189G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066554	0.93898	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.2	5.2	0.72013	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97606	1.0126	10	0.87932	D	0	.	18.7324	0.91739	0.0:1.0:0.0:0.0	.	397	Q9UI33	SCNBA_HUMAN	P	397	ENSP00000307599:A397P;ENSP00000400945:A397P;ENSP00000416757:A397P;ENSP00000408028:A397P	ENSP00000307599:A397P	A	-	1	0	SCN11A	38925602	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.818000	0.86416	2.431000	0.82371	0.460000	0.39030	GCT		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		37	77	0	0	0	0.00874	0	37	77				
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	C	T	rs370480453		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:42299711C>T	ENST00000396169.2	-	5	1132	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	76					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517																																							uc003clc.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)CGA>CAA		cholecystokinin preproprotein		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	92.0	86.0	88.0		227,227	5.2	1.0	3		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCK	NM_000729.4,NM_001174138.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	76/116,76/116	42299711	1,13005	2203	4300	6503	SO:0001583	missense	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42299711C>T		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.227G>A	3.37:g.42299711C>T	ENSP00000379472:p.Arg76Gln					CCK_uc003cld.1_Missense_Mutation_p.R76Q	p.R76Q	NM_000729	NP_000720	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	3	436	-		Ovarian(412;0.0728)	76						Missense_Mutation	SNP	ENST00000396169.2	37	c.227G>A	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779879	0.90195	0.0	1.16E-4	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.24350	1.86;1.86;1.86	5.21	5.21	0.72293	Gastrin/cholecystokinin peptide hormone (1);	0.100240	0.64402	D	0.000005	T	0.56804	0.2010	M	0.85630	2.765	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.61307	-0.7089	10	0.56958	D	0.05	-5.6998	17.9313	0.88998	0.0:1.0:0.0:0.0	.	76	P06307	CCKN_HUMAN	Q	76	ENSP00000379472:R76Q;ENSP00000335657:R76Q;ENSP00000409124:R76Q	ENSP00000335657:R76Q	R	-	2	0	CCK	42274715	0.985000	0.35326	0.995000	0.50966	0.664000	0.39144	2.479000	0.45197	2.702000	0.92279	0.655000	0.94253	CGA		0.517	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		11	46	0	0	0	0.013537	0	11	46				
PRSS42	339906	broad.mit.edu	37	3	46874472	46874472	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:46874472C>A	ENST00000429665.1	-	3	595	c.596G>T	c.(595-597)aGg>aTg	p.R199M	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R199M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACCCAGCACCTGGTCCTACC	0.537																																							uc011bap.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(595-597)AGG>ATG		testis serine protease 2 precursor							100.0	96.0	98.0					3																	46874472		1999	4179	6178	SO:0001583	missense	339906				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:46874472C>A		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.596G>T	3.37:g.46874472C>A	ENSP00000401701:p.Arg199Met					PRSS42_uc003cqj.2_Intron	p.R199M	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN			3	596	-			199			Peptidase S1.			Missense_Mutation	SNP	ENST00000429665.1	37	c.596G>T	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226843	0.39399	.	.	ENSG00000178055	ENST00000429665	D	0.88664	-2.41	4.53	-2.35	0.06684	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.256070	0.05904	N	0.630413	D	0.86066	0.5844	N	0.12569	0.235	0.09310	N	1	D	0.56035	0.974	D	0.64595	0.927	T	0.75235	-0.3389	10	0.46703	T	0.11	.	5.9659	0.19325	0.0:0.1996:0.4217:0.3787	.	199	Q7Z5A4	PRS42_HUMAN	M	199	ENSP00000401701:R199M	ENSP00000401701:R199M	R	-	2	0	PRSS42	46849476	0.000000	0.05858	0.402000	0.26371	0.954000	0.61252	-3.462000	0.00463	-0.818000	0.04329	0.505000	0.49811	AGG		0.537	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		29	33	1	0	2.24059e-21	0.00632	3.19208e-21	29	33				
NBEAL2	23218	broad.mit.edu	37	3	47044777	47044777	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:47044777G>A	ENST00000450053.3	+	35	5877	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1716K|NBEAL2_ENST00000383740.2_Missense_Mutation_p.E179K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1900					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.E1277K(1)|p.E1900K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGCGAGGACGAGCTGGCTGA	0.642																																							uc003cqp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5698-5700)GAG>AAG		neurobeachin-like 2							27.0	34.0	32.0					3																	47044777		1983	4150	6133	SO:0001583	missense	23218						binding	g.chr3:47044777G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5698G>A	3.37:g.47044777G>A	ENSP00000415034:p.Glu1900Lys					NBEAL2_uc010hjm.1_Missense_Mutation_p.E1277K|NBEAL2_uc010hjn.1_Missense_Mutation_p.E296K|NBEAL2_uc010hjo.1_5'Flank	p.E1900K	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	35	5877	+		Acute lymphoblastic leukemia(5;0.0534)	1900					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5698G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.37|15.37	2.814854|2.814854	0.50527|0.50527	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T;T;T|.	0.56941|.	0.44;1.02;0.43|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.353602|.	0.27447|.	N|.	0.019331|.	T|T	0.72431|0.72431	0.3459|0.3459	M|M	0.68317|0.68317	2.08|2.08	0.46336|0.46336	D|D	0.998992|0.998992	P;P|.	0.47191|.	0.891;0.482|.	B;B|.	0.38156|.	0.266;0.03|.	T|T	0.71520|0.71520	-0.4568|-0.4568	10|5	0.66056|.	D|.	0.02|.	.|.	15.19|15.19	0.73035|0.73035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1716;1900|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	K|Q	1716;179;1900|268	ENSP00000292309:E1716K;ENSP00000373246:E179K;ENSP00000415034:E1900K|.	ENSP00000292309:E1716K|.	E|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47019781|47019781	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.047000|0.047000	0.14425|0.14425	7.899000|7.899000	0.87370|0.87370	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	26	0	0	0	0.009096	0	3	26				
CDC25A	993	broad.mit.edu	37	3	48207330	48207330	+	Silent	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:48207330A>T	ENST00000302506.3	-	11	1491	c.1083T>A	c.(1081-1083)tcT>tcA	p.S361S	CDC25A_ENST00000351231.3_Silent_p.S321S|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	361					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.S361S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAATTTCTGGAGAGATGTATT	0.358																																							uc003csh.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|kidney(1)|skin(1)	5						c.(1081-1083)TCT>TCA		cell division cycle 25A isoform a							189.0	190.0	189.0					3																	48207330		2203	4300	6503	SO:0001819	synonymous_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48207330A>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1083T>A	3.37:g.48207330A>T						CDC25A_uc003csi.1_Silent_p.S321S	p.S361S	NM_001789	NP_001780	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	11	1447	-			361					Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	ENST00000302506.3	37	c.1083T>A	CCDS2760.1																																																																																				0.358	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		73	127	0	0	0	0.01441	0	73	127				
MAGI1	9223	broad.mit.edu	37	3	65349172	65349172	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:65349172C>A	ENST00000497477.2	-	20	3261	c.3262G>T	c.(3262-3264)Gac>Tac	p.D1088Y	MAGI1_ENST00000402939.2_Missense_Mutation_p.D1155Y|MAGI1_ENST00000330909.8_Missense_Mutation_p.D1183Y|MAGI1_ENST00000483466.1_Missense_Mutation_p.D1184Y			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1184					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.D1184Y(1)|p.D1155Y(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCAGGACCGTCCTCTGCTAAG	0.502																																							uc003dmn.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(3463-3465)GAC>TAC		membrane associated guanylate kinase, WW and PDZ							235.0	243.0	240.0					3																	65349172		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65349172C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3262G>T	3.37:g.65349172C>A	ENSP00000424369:p.Asp1088Tyr					MAGI1_uc003dmm.2_Missense_Mutation_p.D1183Y|MAGI1_uc003dmo.2_Missense_Mutation_p.D1184Y|MAGI1_uc003dmp.2_Missense_Mutation_p.D1088Y	p.D1155Y	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	21	3989	-		Lung NSC(201;0.0016)	1184			PDZ 6.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3463G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.900953|4.900953	0.92035|0.92035	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.047006|.	0.85682|.	D|.	0.000000|.	D|D	0.86924|0.86924	0.6050|0.6050	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.982;0.987;0.994|.	D|D	0.89021|0.89021	0.3435|0.3435	10|5	0.72032|.	D|.	0.01|.	-33.5077|-33.5077	20.0396|20.0396	0.97574|0.97574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1088;1184;1155;1183|.	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.|.	Y|S	1155;1183;1079;1059;1184;1088;942|1063	ENSP00000385450:D1155Y;ENSP00000331157:D1183Y;ENSP00000418177:D1059Y;ENSP00000420323:D1184Y;ENSP00000424369:D1088Y;ENSP00000420796:D942Y|.	ENSP00000331157:D1183Y|.	D|R	-|-	1|3	0|2	MAGI1|MAGI1	65324212|65324212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.776000|7.776000	0.85560|0.85560	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	GAC|AGG		0.502	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		116	167	1	0	4.94481e-55	0.01441	7.74488e-55	116	167				
OR5H2	79310	broad.mit.edu	37	3	98001900	98001900	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:98001900G>A	ENST00000355273.2	+	1	169	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D57N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TATCTGGAATGACCCACAACT	0.413																																							uc003dsj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(169-171)GAC>AAC		olfactory receptor, family 5, subfamily H,							349.0	323.0	332.0					3																	98001900		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001900G>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.169G>A	3.37:g.98001900G>A	ENSP00000347418:p.Asp57Asn						p.D57N	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	169	+			57			Cytoplasmic (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.169G>A	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249866	0.22880	.	.	ENSG00000197938	ENST00000355273	T	0.02837	4.14	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000850	T	0.09158	0.0226	M	0.71920	2.185	0.09310	N	1	D	0.62365	0.991	D	0.63192	0.912	T	0.06058	-1.0848	10	0.41790	T	0.15	.	6.3723	0.21489	0.1389:0.0:0.8611:0.0	.	57	Q8NGV7	OR5H2_HUMAN	N	57	ENSP00000347418:D57N	ENSP00000347418:D57N	D	+	1	0	OR5H2	99484590	0.001000	0.12720	0.696000	0.30242	0.023000	0.10783	0.107000	0.15375	1.787000	0.52448	0.543000	0.68304	GAC		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			91	197	0	0	0	0.01441	0	91	197				
MYH15	22989	broad.mit.edu	37	3	108205358	108205358	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:108205358G>C	ENST00000273353.3	-	11	1003	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	316	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S316C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGGATTTGCAGATACCAGGAG	0.438																																							uc003dxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(946-948)TCT>TGT		myosin, heavy polypeptide 15							85.0	84.0	84.0					3																	108205358		1875	4113	5988	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108205358G>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.947C>G	3.37:g.108205358G>C	ENSP00000273353:p.Ser316Cys						p.S316C	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			11	1004	-			316			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.947C>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303745	0.60305	.	.	ENSG00000144821	ENST00000273353	D	0.87103	-2.21	5.66	5.66	0.87406	Myosin head, motor domain (2);	.	.	.	.	D	0.95220	0.8450	H	0.94423	3.535	0.41043	D	0.985246	D	0.89917	1.0	D	0.81914	0.995	D	0.96279	0.9205	9	0.87932	D	0	.	15.2628	0.73637	0.0:0.1398:0.8602:0.0	.	316	Q9Y2K3	MYH15_HUMAN	C	316	ENSP00000273353:S316C	ENSP00000273353:S316C	S	-	2	0	MYH15	109688048	1.000000	0.71417	0.072000	0.20136	0.506000	0.33950	6.563000	0.73964	2.672000	0.90937	0.467000	0.42956	TCT		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		3	29	0	0	0	0.004672	0	3	29				
POLQ	10721	broad.mit.edu	37	3	121200641	121200641	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:121200641C>A	ENST00000264233.5	-	19	6117	c.5989G>T	c.(5989-5991)Gat>Tat	p.D1997Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1997					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.D2132Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATCTGGATCTAGTAACCAG	0.413								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5989-5991)GAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							76.0	77.0	77.0					3																	121200641		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121200641C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5989G>T	3.37:g.121200641C>A	ENSP00000264233:p.Asp1997Tyr					POLQ_uc003eed.2_Missense_Mutation_p.D1169Y	p.D1997Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	19	6118	-			1997					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5989G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845398	0.71603	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.23147	1.92	5.17	4.29	0.51040	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.72894	2.215	0.44295	D	0.997165	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54735	-0.8249	10	0.87932	D	0	.	13.9064	0.63839	0.0:0.9269:0.0:0.0731	.	1997;1169	O75417;O75417-2	DPOLQ_HUMAN;.	Y	1620;1997;2133	ENSP00000264233:D1997Y	ENSP00000264233:D1997Y	D	-	1	0	POLQ	122683331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.929000	0.56514	1.408000	0.46895	0.650000	0.86243	GAT		0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		21	53	1	0	2.98393e-07	0.00278	3.39528e-07	21	53				
POLQ	10721	broad.mit.edu	37	3	121207931	121207931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:121207931C>A	ENST00000264233.5	-	16	3975	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1283					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E1418*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAAATTCTCATGCTGGCCT	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3847-3849)GAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							92.0	99.0	97.0					3																	121207931		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207931C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3847G>T	3.37:g.121207931C>A	ENSP00000264233:p.Glu1283*					POLQ_uc003eed.2_Nonsense_Mutation_p.E455*	p.E1283*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3976	-			1283					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.3847G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	39	7.856431	0.98528	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.45	4.58	0.56647	.	0.543702	0.19299	N	0.117693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	9.4888	0.38946	0.0:0.8276:0.0:0.1724	.	.	.	.	X	906;1283;1419	.	ENSP00000264233:E1283X	E	-	1	0	POLQ	122690621	0.974000	0.33945	0.567000	0.28434	0.205000	0.24178	2.727000	0.47311	1.541000	0.49316	0.563000	0.77884	GAG		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		39	90	1	0	5.04308e-16	0.00623	6.82917e-16	39	90				
CASR	846	broad.mit.edu	37	3	122003967	122003967	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:122003967G>A	ENST00000490131.1	+	7	3538	c.3166G>A	c.(3166-3168)Gtg>Atg	p.V1056M	CASR_ENST00000296154.5_Missense_Mutation_p.V1056M|CASR_ENST00000498619.1_Missense_Mutation_p.V1066M	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1056					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.V1056M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCACTTGTAGTGTCCAGTTC	0.522																																							uc003eev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(3166-3168)GTG>ATG		calcium-sensing receptor precursor	Cinacalcet(DB01012)						90.0	87.0	88.0					3																	122003967		2203	4299	6502	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003967G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3166G>A	3.37:g.122003967G>A	ENSP00000418685:p.Val1056Met					CASR_uc003eew.3_Missense_Mutation_p.V1066M	p.V1056M	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3538	+			1056			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3166G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	7.379	0.628363	0.14257	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89343	-2.5;-2.5;-2.5	5.48	4.55	0.56014	.	0.311869	0.28754	N	0.014257	T	0.76835	0.4043	N	0.14661	0.345	0.24468	N	0.994407	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62895	-0.6757	10	0.30854	T	0.27	.	6.5413	0.22382	0.1089:0.0:0.7041:0.187	.	1066;1056	E7ENE0;P41180	.;CASR_HUMAN	M	1056;1066;1056	ENSP00000418685:V1056M;ENSP00000420194:V1066M;ENSP00000296154:V1056M	ENSP00000296154:V1056M	V	+	1	0	CASR	123486657	0.051000	0.20477	0.784000	0.31847	0.924000	0.55760	0.049000	0.14099	1.285000	0.44548	0.555000	0.69702	GTG		0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		26	57	0	0	0	0.00632	0	26	57				
KALRN	8997	broad.mit.edu	37	3	124196146	124196146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:124196146C>T	ENST00000240874.3	+	27	4307	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.Q1384*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.Q1375*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1384	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1384*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGATTCCAACCAGCTTATCCT	0.403																																							uc003ehg.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4150-4152)CAG>TAG		kalirin, RhoGEF kinase isoform 1							164.0	153.0	157.0					3																	124196146		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124196146C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4150C>T	3.37:g.124196146C>T	ENSP00000240874:p.Gln1384*					KALRN_uc010hrv.1_Nonsense_Mutation_p.Q1375*|KALRN_uc003ehf.1_Nonsense_Mutation_p.Q1384*|KALRN_uc011bjy.1_Nonsense_Mutation_p.Q1375*|KALRN_uc003ehh.1_Nonsense_Mutation_p.Q730*	p.Q1384*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			27	4277	+			1384			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.4150C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	44	11.169341	0.99525	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	17.5637	0.87914	0.0:1.0:0.0:0.0	.	.	.	.	X	1375;1384;1384	.	ENSP00000240874:Q1384X	Q	+	1	0	KALRN	125678836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.301000	0.78850	2.675000	0.91044	0.655000	0.94253	CAG		0.403	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		29	55	0	0	0	0.008361	0	29	55				
HEG1	57493	broad.mit.edu	37	3	124731608	124731608	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:124731608G>T	ENST00000311127.4	-	6	2882	c.2815C>A	c.(2815-2817)Cca>Aca	p.P939T	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	939					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P939T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTGAAGCTGGGCTGTACTCT	0.502																																							uc003ehs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2815-2817)CCA>ACA		HEG homolog 1 precursor							180.0	197.0	192.0					3																	124731608		2065	4192	6257	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731608G>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2815C>A	3.37:g.124731608G>T	ENSP00000311502:p.Pro939Thr					HEG1_uc011bke.1_Missense_Mutation_p.P1039T	p.P939T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	2883	-			939			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2815C>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161432	0.38119	.	.	ENSG00000173706	ENST00000311127	D	0.89415	-2.51	4.78	2.95	0.34219	.	0.195504	0.24823	U	0.035315	D	0.82346	0.5017	M	0.61703	1.905	0.09310	N	1	P;P	0.46277	0.875;0.802	B;B	0.40825	0.341;0.184	T	0.72808	-0.4181	10	0.02654	T	1	.	7.3687	0.26790	0.0857:0.0:0.7487:0.1656	.	939;939	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	T	939	ENSP00000311502:P939T	ENSP00000311502:P939T	P	-	1	0	HEG1	126214298	0.970000	0.33590	0.006000	0.13384	0.100000	0.18952	1.321000	0.33678	0.702000	0.31825	0.655000	0.94253	CCA		0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		13	18	1	0	0.00010058	0.013537	0.000108061	13	18				
COL6A5	256076	broad.mit.edu	37	3	130095204	130095204	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:130095204C>T	ENST00000432398.2	+	3	686	c.192C>T	c.(190-192)gcC>gcT	p.A64A	COL6A5_ENST00000265379.6_Silent_p.A64A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	64	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A64A(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCATAGAGGCCAACAAATACC	0.502																																							uc010htj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)GCC>GCT		collagen, type XXIX, alpha 1							118.0	97.0	103.0					3																	130095204		692	1591	2283	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130095204C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.192C>T	3.37:g.130095204C>T						COL29A1_uc010hti.1_RNA	p.A64A	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			3	686	+			64			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.192C>T																																																																																					0.502	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		4	20	0	0	0	0.009096	0	4	20				
ACAD11	84129	broad.mit.edu	37	3	132294687	132294687	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:132294687C>T	ENST00000264990.6	-	17	2901	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.E169K	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	644					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.E644K(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AAAGCGCGTTCCGCCAAACCT	0.463																																							uc003eov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1930-1932)GAA>AAA		putative acyl-CoA dehydrogenase							109.0	102.0	104.0					3																	132294687		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132294687C>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1930G>A	3.37:g.132294687C>T	ENSP00000264990:p.Glu644Lys						p.E644K	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			17	2310	-			644					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1930G>A	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572136	0.96553	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.96168	-3.93;-3.93	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.97942	0.9323	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98626	1.0669	9	0.87932	D	0	.	18.353	0.90344	0.0:1.0:0.0:0.0	.	644	Q709F0	ACD11_HUMAN	K	644;169	ENSP00000264990:E644K;ENSP00000446263:E169K	ENSP00000264990:E644K	E	-	1	0	ACAD11	133777377	1.000000	0.71417	0.429000	0.26710	0.973000	0.67179	7.179000	0.77665	2.615000	0.88500	0.591000	0.81541	GAA		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		10	60	0	0	0	0.010729	0	10	60				
KY	339855	broad.mit.edu	37	3	134329079	134329079	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:134329079C>T	ENST00000423778.2	-	9	918	c.857G>A	c.(856-858)gGc>gAc	p.G286D	KY_ENST00000503669.1_Missense_Mutation_p.G286D|KY_ENST00000508956.1_Missense_Mutation_p.G265D|KY_ENST00000508041.1_5'Flank	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	286					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.G286D(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGGCCGCTGCCCCAGGTGCT	0.582																																							uc010hty.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(856-858)GGC>GAC		kyphoscoliosis peptidase							76.0	83.0	81.0					3																	134329079		2135	4244	6379	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134329079C>T	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.857G>A	3.37:g.134329079C>T	ENSP00000397598:p.Gly286Asp					KY_uc011blw.1_Missense_Mutation_p.G286D|KY_uc011blx.1_Missense_Mutation_p.G265D|KY_uc003eqr.1_Missense_Mutation_p.G52D	p.G286D	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			9	919	-			286					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.857G>A	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806374	0.90623	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.25749	1.78;1.78;1.78	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.50919	1.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.29941	-0.9995	10	0.52906	T	0.07	-10.4183	20.1278	0.97990	0.0:1.0:0.0:0.0	.	265;286;286	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	D	265;286;286;286	ENSP00000421297:G265D;ENSP00000397598:G286D;ENSP00000426777:G286D	ENSP00000309520:G286D	G	-	2	0	KY	135811769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.677000	0.68142	2.768000	0.95171	0.561000	0.74099	GGC		0.582	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		17	37	0	0	0	0.00499	0	17	37				
SLC9A9	285195	broad.mit.edu	37	3	143297460	143297460	+	Silent	SNP	T	T	A	rs151096476	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:143297460T>A	ENST00000316549.6	-	7	1069	c.861A>T	c.(859-861)gcA>gcT	p.A287A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	287					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.A287A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGACCCCATTGCAAATGAGC	0.458																																							uc003evn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(859-861)GCA>GCT		solute carrier family 9 (sodium/hydrogen							111.0	105.0	107.0					3																	143297460		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143297460T>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.861A>T	3.37:g.143297460T>A						SLC9A9_uc011bnk.1_Silent_p.A161A	p.A287A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			7	1043	-			287			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.861A>T	CCDS33872.1																																																																																				0.458	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		11	24	0	0	0	0.008291	0	11	24				
PLSCR4	57088	broad.mit.edu	37	3	145917794	145917794	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:145917794C>A	ENST00000354952.2	-	6	670	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	PLSCR4_ENST00000493382.1_Missense_Mutation_p.D144Y|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.D144Y|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	144					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.D144Y(2)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTTTTAATATCATATCTATTA	0.353																																							uc010huy.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(430-432)GAT>TAT		phospholipid scramblase 4 isoform a							53.0	55.0	54.0					3																	145917794		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917794C>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.430G>T	3.37:g.145917794C>A	ENSP00000347038:p.Asp144Tyr					PLSCR4_uc010huz.2_Missense_Mutation_p.D144Y|PLSCR4_uc003evt.3_Missense_Mutation_p.D144Y|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	p.D144Y	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			6	759	-			144			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.430G>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378744	0.82682	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.94;1.94	4.87	4.87	0.63330	.	0.089923	0.48767	D	0.000178	T	0.49115	0.1538	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.49283	-0.8956	10	0.87932	D	0	.	17.3112	0.87211	0.0:1.0:0.0:0.0	.	144	Q9NRQ2	PLS4_HUMAN	Y	144	ENSP00000347038:D144Y;ENSP00000399315:D144Y;ENSP00000419040:D144Y;ENSP00000417896:D144Y;ENSP00000418173:D144Y	ENSP00000347038:D144Y	D	-	1	0	PLSCR4	147400484	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.549000	0.60726	2.683000	0.91414	0.655000	0.94253	GAT		0.353	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		5	23	1	0	1.23904e-05	0.000602	1.35357e-05	5	23				
VPS8	23355	broad.mit.edu	37	3	184648312	184648312	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:184648312G>A	ENST00000437079.3	+	34	3025	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	VPS8_ENST00000436792.2_Missense_Mutation_p.E950K|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000287546.4_Missense_Mutation_p.E952K|VPS8_ENST00000446204.2_Missense_Mutation_p.E860K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	952							zinc ion binding (GO:0008270)	p.E952K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACACAGTGCAGAGGAGAAGCA	0.393																																							uc003fpb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2848-2850)GAG>AAG		vacuolar protein sorting 8 homolog isoform b							178.0	169.0	172.0					3																	184648312		1991	4171	6162	SO:0001583	missense	23355						zinc ion binding	g.chr3:184648312G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2854G>A	3.37:g.184648312G>A	ENSP00000397879:p.Glu952Lys					VPS8_uc010hyd.1_Missense_Mutation_p.E860K|VPS8_uc010hye.1_Missense_Mutation_p.E379K	p.E950K	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	3019	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		952					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2848G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838694	0.71373	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17528	2.27;2.27;2.27;2.28	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (1);	0.047924	0.85682	D	0.000000	T	0.19366	0.0465	L	0.55481	1.735	0.80722	D	1	B;B;B	0.28584	0.003;0.216;0.01	B;B;B	0.27887	0.003;0.084;0.004	T	0.07443	-1.0772	10	0.09338	T	0.73	-13.2733	19.8893	0.96923	0.0:0.0:1.0:0.0	.	952;860;950	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	K	952;952;950;860	ENSP00000287546:E952K;ENSP00000397879:E952K;ENSP00000404704:E950K;ENSP00000405483:E860K	ENSP00000287546:E952K	E	+	1	0	VPS8	186131006	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.018000	0.76406	2.788000	0.95919	0.650000	0.86243	GAG		0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	47	0	0	0	0.006214	0	8	47				
MFI2	4241	broad.mit.edu	37	3	196733536	196733536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr3:196733536G>A	ENST00000296350.5	-	14	1935	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACCTCGGCTCGGGCCCCGTTG	0.622																																							uc003fxk.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1822-1824)CGA>TGA		melanoma-associated antigen p97 isoform 1							41.0	42.0	42.0					3																	196733536		2203	4300	6503	SO:0001587	stop_gained	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733536G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1822C>T	3.37:g.196733536G>A	ENSP00000296350:p.Arg608*						p.R608*	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	14	1935	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		608			Transferrin-like 2.		Q9BQE2	Nonsense_Mutation	SNP	ENST00000296350.5	37	c.1822C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257811	0.98168	.	.	ENSG00000163975	ENST00000296350	.	.	.	5.24	3.3	0.37823	.	0.069596	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7839	11.9926	0.53184	0.0:0.0:0.6879:0.3121	.	.	.	.	X	608	.	ENSP00000296350:R608X	R	-	1	2	MFI2	198217933	1.000000	0.71417	0.608000	0.28969	0.803000	0.45373	3.901000	0.56303	1.116000	0.41820	0.462000	0.41574	CGA		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			14	13	0	0	0	0.00245	0	14	13				
ZNF595	152687	broad.mit.edu	37	4	59451	59451	+	Splice_Site	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:59451T>G	ENST00000509152.2	+	2	315		c.e2+2		ZNF595_ENST00000526473.2_Splice_Site|ZNF595_ENST00000339368.6_Splice_Site			Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCTCCCTGGGTGAGGATAACT	0.408																																							uc003fzv.1		NA																	0					0						c.e2+2		zinc finger protein 595							347.0	377.0	367.0					4																	59451		2203	4300	6503	SO:0001630	splice_region_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59451T>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.130+2T>G	4.37:g.59451T>G						ZNF595_uc003fzu.1_Splice_Site|ZNF718_uc003fzt.3_Splice_Site_p.G44_splice|ZNF595_uc010iay.1_Splice_Site|ZNF595_uc011bus.1_Splice_Site|ZNF595_uc011but.1_Intron	p.G44_splice	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	286	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Splice_Site	SNP	ENST00000509152.2	37	c.130_splice		.	.	.	.	.	.	.	.	.	.	t	10.55	1.380298	0.24944	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	.	.	.	1.26	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2624	0.20907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF595	49451	1.000000	0.71417	0.457000	0.27056	0.138000	0.21146	2.656000	0.46716	0.549000	0.28973	0.397000	0.26171	.		0.408	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	Intron	17	364	0	0	0	0.014323	0	17	364				
TACC3	10460	broad.mit.edu	37	4	1730169	1730169	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:1730169C>T	ENST00000313288.4	+	4	1146	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	347					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T347I(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GATGGCGCCACCAGCAAAAGG	0.582																																					Ovarian(120;482 2294 11894 35824)	Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1039-1041)ACC>ATC		transforming, acidic coiled-coil containing							51.0	58.0	56.0					4																	1730169		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1730169C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1040C>T	4.37:g.1730169C>T	ENSP00000326550:p.Thr347Ile					TACC3_uc010ibz.2_Missense_Mutation_p.T347I|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	p.T347I	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1148	+		Breast(71;0.212)|all_epithelial(65;0.241)	347					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1040C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406180	0.62288	.	.	ENSG00000013810	ENST00000313288	T	0.11385	2.78	5.4	3.66	0.41972	.	1.233600	0.06122	U	0.669081	T	0.19525	0.0469	L	0.41710	1.295	0.09310	N	1	D;P	0.54047	0.964;0.886	P;B	0.53954	0.738;0.28	T	0.23190	-1.0195	10	0.62326	D	0.03	-4.4148	9.4185	0.38536	0.0:0.8251:0.0:0.1749	.	347;347	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	I	347	ENSP00000326550:T347I	ENSP00000326550:T347I	T	+	2	0	TACC3	1699967	0.000000	0.05858	0.006000	0.13384	0.255000	0.26057	0.086000	0.14935	1.276000	0.44395	0.591000	0.81541	ACC		0.582	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			12	36	0	0	0	0.013537	0	12	36				
ZFYVE28	57732	broad.mit.edu	37	4	2307056	2307056	+	Nonsense_Mutation	SNP	G	G	T	rs369415325		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:2307056G>T	ENST00000290974.2	-	8	1350	c.1011C>A	c.(1009-1011)taC>taA	p.Y337*	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.Y307*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.Y267*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	337					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.Y337*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTGGTCGTCGTACTGCATGG	0.662																																							uc003gex.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1009-1011)TAC>TAA		zinc finger, FYVE domain containing 28							47.0	48.0	48.0					4																	2307056		2203	4300	6503	SO:0001587	stop_gained	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307056G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1011C>A	4.37:g.2307056G>T	ENSP00000290974:p.Tyr337*					ZFYVE28_uc011bvk.1_Nonsense_Mutation_p.Y267*|ZFYVE28_uc011bvl.1_Nonsense_Mutation_p.Y307*|ZFYVE28_uc003gew.1_Nonsense_Mutation_p.Y223*	p.Y337*	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1330	-			337					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Nonsense_Mutation	SNP	ENST00000290974.2	37	c.1011C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	38	7.054262	0.98032	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	.	.	.	5.62	-2.64	0.06114	.	0.064395	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0601	0.59002	0.6064:0.0:0.3936:0.0	.	.	.	.	X	337;307;267	.	ENSP00000290974:Y337X	Y	-	3	2	ZFYVE28	2276854	0.223000	0.23663	0.938000	0.37757	0.794000	0.44872	-0.426000	0.07008	-0.462000	0.06984	-0.482000	0.04802	TAC		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		22	27	1	0	5.35356e-11	0.00278	6.65993e-11	22	27				
JAKMIP1	152789	broad.mit.edu	37	4	6066733	6066733	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:6066733C>A	ENST00000282924.5	-	9	1790	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.K435N|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.K435N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.K250N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.K270N	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	435	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.K435N(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACAACATGCTTCTGTAAAA	0.488																																							uc003giu.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1303-1305)AAG>AAT		janus kinase and microtubule interacting protein							133.0	120.0	124.0					4																	6066733		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6066733C>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1305G>T	4.37:g.6066733C>A	ENSP00000282924:p.Lys435Asn					JAKMIP1_uc010idb.1_Missense_Mutation_p.K435N|JAKMIP1_uc010idc.1_Missense_Mutation_p.K250N|JAKMIP1_uc010idd.1_Missense_Mutation_p.K435N|JAKMIP1_uc011bwc.1_Missense_Mutation_p.K270N|JAKMIP1_uc003giv.3_Missense_Mutation_p.K435N|JAKMIP1_uc010ide.2_Missense_Mutation_p.K435N	p.K435N	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			9	1581	-			435			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1305G>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531494	0.45073	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.33438	1.85;1.41;1.83;1.83;1.42	4.25	4.25	0.50352	.	0.100955	0.43747	D	0.000539	T	0.28366	0.0701	L	0.43923	1.385	0.43172	D	0.994973	B;B;P;P;B	0.36535	0.004;0.003;0.557;0.557;0.01	B;B;B;B;B	0.36092	0.005;0.004;0.217;0.217;0.004	T	0.10800	-1.0614	10	0.38643	T	0.18	.	15.594	0.76562	0.0:1.0:0.0:0.0	.	270;435;250;435;435	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	N	435;250;435;327;435;435;270	ENSP00000386711:K435N;ENSP00000387042:K250N;ENSP00000282924:K435N;ENSP00000386925:K435N;ENSP00000386745:K270N	ENSP00000282924:K435N	K	-	3	2	JAKMIP1	6117634	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.982000	0.56909	2.094000	0.63399	0.561000	0.74099	AAG		0.488	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		20	30	1	0	5.35356e-11	0.00278	6.65993e-11	20	30				
CPZ	8532	broad.mit.edu	37	4	8621162	8621162	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:8621162C>T	ENST00000360986.4	+	11	1951	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	CPZ_ENST00000382480.2_Missense_Mutation_p.H456Y|CPZ_ENST00000315782.6_Missense_Mutation_p.H582Y|CPZ_ENST00000429646.2_Missense_Mutation_p.H201Y	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	593					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.H593Y(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACTTTATTCATGGGCTGCG	0.637																																							uc003glm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1777-1779)CAT>TAT		carboxypeptidase Z isoform 1							51.0	51.0	51.0					4																	8621162		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621162C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1777C>T	4.37:g.8621162C>T	ENSP00000354255:p.His593Tyr					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.H456Y|CPZ_uc003glo.2_Missense_Mutation_p.H582Y|CPZ_uc003glp.2_RNA	p.H593Y	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			11	1903	+			593					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1777C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560926	0.27827	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.57595	0.71;2.09;0.39;1.97	4.64	3.69	0.42338	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);	0.882556	0.09188	U	0.836535	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.14023	0.01;0.004	T	0.01596	-1.1316	10	0.05620	T	0.96	-1.6988	13.802	0.63206	0.1635:0.8365:0.0:0.0	.	582;593	Q66K79-2;Q66K79	.;CBPZ_HUMAN	Y	593;456;582;201	ENSP00000354255:H593Y;ENSP00000371920:H456Y;ENSP00000315074:H582Y;ENSP00000403981:H201Y	ENSP00000315074:H582Y	H	+	1	0	CPZ	8672062	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.088000	0.14979	2.140000	0.66376	0.555000	0.69702	CAT		0.637	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		11	42	0	0	0	0.001855	0	11	42				
LAP3	51056	broad.mit.edu	37	4	17597048	17597048	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:17597048C>T	ENST00000226299.4	+	8	1153	c.879C>T	c.(877-879)atC>atT	p.I293I	AC006160.5_ENST00000511010.1_RNA|RN7SL315P_ENST00000580348.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.I262I	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	293					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.I293I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTATCTCCATCAAGGCTTCTG	0.443																																							uc003gph.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)ATC>ATT		leucine aminopeptidase 3							111.0	102.0	105.0					4																	17597048		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17597048C>T	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.879C>T	4.37:g.17597048C>T							p.I293I	NM_015907	NP_056991	P28838	AMPL_HUMAN			8	1041	+			293					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.879C>T	CCDS3422.1																																																																																				0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			17	56	0	0	0	0.006122	0	17	56				
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region (GO:0005576)		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507																																							uc003grf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(799-801)CGG>TGG		leucine-rich repeat LGI family, member 2							164.0	135.0	145.0					4																	25013978		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25013978G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.799C>T	4.37:g.25013978G>A	ENSP00000371548:p.Arg267Trp						p.R267W	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	898	-		Breast(46;0.173)	267			EAR 2.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.799C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146207	0.77888	.	.	ENSG00000153012	ENST00000382114	D	0.82167	-1.58	4.81	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88822	0.3299	10	0.87932	D	0	-15.222	10.3291	0.43812	0.0:0.0:0.5597:0.4403	.	267	Q8N0V4	LGI2_HUMAN	W	267	ENSP00000371548:R267W	ENSP00000371548:R267W	R	-	1	2	LGI2	24623076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.516000	0.60496	2.373000	0.80994	0.555000	0.69702	CGG		0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			28	84	0	0	0	0.005443	0	28	84				
AASDH	132949	broad.mit.edu	37	4	57221506	57221506	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:57221506T>A	ENST00000205214.6	-	6	1125	c.945A>T	c.(943-945)ttA>ttT	p.L315F	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.L315F|AASDH_ENST00000602986.1_Missense_Mutation_p.L162F|AASDH_ENST00000502617.1_Missense_Mutation_p.L315F|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.L215F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	315					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.L315F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CACCAAGGGCTAATACTCGAA	0.393																																							uc003hbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(943-945)TTA>TTT		aminoadipate-semialdehyde dehydrogenase							124.0	118.0	120.0					4																	57221506		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221506T>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.945A>T	4.37:g.57221506T>A	ENSP00000205214:p.Leu315Phe					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.L162F|AASDH_uc003hbo.2_Missense_Mutation_p.L215F|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.L315F|AASDH_uc003hbp.2_Missense_Mutation_p.L315F	p.L315F	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1098	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	315					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.945A>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067571	0.55539	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.68	0.256	0.15567	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.81802	2.56	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;0.998;1.0	T	0.59532	-0.7437	10	0.72032	D	0.01	-13.1794	5.063	0.14566	0.1242:0.292:0.0:0.5838	.	162;315;315;315	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	F	315;215;315;162;315	ENSP00000205214:L315F;ENSP00000423760:L215F;ENSP00000409656:L315F;ENSP00000421171:L315F	ENSP00000205214:L315F	L	-	3	2	AASDH	56916263	1.000000	0.71417	0.857000	0.33713	0.230000	0.25150	0.589000	0.23939	0.051000	0.15978	0.528000	0.53228	TTA		0.393	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		18	54	0	0	0	0.00499	0	18	54				
UGT2B11	10720	broad.mit.edu	37	4	70080278	70080278	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:70080278C>G	ENST00000446444.1	-	1	171	c.163G>C	c.(163-165)Gta>Cta	p.V55L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	55					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V55L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GATGCCAGTACAGTCACCTCA	0.403																																							uc003heh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(163-165)GTA>CTA		UDP glucuronosyltransferase 2 family,							81.0	89.0	87.0					4																	70080278		2202	4290	6492	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080278C>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.163G>C	4.37:g.70080278C>G	ENSP00000387683:p.Val55Leu					uc003hei.1_RNA	p.V55L	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	172	-			55					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.163G>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.452	1.090877	0.20471	.	.	ENSG00000213759	ENST00000446444	T	0.62232	0.04	1.96	1.04	0.20106	.	0.110831	0.35805	U	0.002974	T	0.71753	0.3377	M	0.88842	2.985	0.09310	N	1	P	0.46327	0.876	P	0.51999	0.687	T	0.64508	-0.6391	10	0.66056	D	0.02	.	7.2887	0.26354	0.2644:0.7356:0.0:0.0	.	55	O75310	UDB11_HUMAN	L	55	ENSP00000387683:V55L	ENSP00000387683:V55L	V	-	1	0	UGT2B11	70114867	0.046000	0.20272	0.015000	0.15790	0.193000	0.23685	0.864000	0.27926	0.141000	0.18875	0.184000	0.17185	GTA		0.403	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		32	77	0	0	0	0.004289	0	32	77				
SLC4A4	8671	broad.mit.edu	37	4	72332251	72332251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:72332251G>T	ENST00000264485.5	+	13	1705	c.1588G>T	c.(1588-1590)Gga>Tga	p.G530*	SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.G530*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.G530*|SLC4A4_ENST00000340595.3_Nonsense_Mutation_p.G486*|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.G486*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	530			G -> R (in pRTA-OA; decreased cotransporter activity; no effect on localization to the basolateral membrane). {ECO:0000303|PubMed:17661077}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G530*(1)|p.G486*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAGCAGCACCGGACCTGTCCT	0.393																																							uc003hfy.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5	GRCh37	CM083160	SLC4A4	M		c.(1588-1590)GGA>TGA		solute carrier family 4, sodium bicarbonate							148.0	140.0	143.0					4																	72332251		2203	4300	6503	SO:0001587	stop_gained	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72332251G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1588G>T	4.37:g.72332251G>T	ENSP00000264485:p.Gly530*					SLC4A4_uc010iic.2_Nonsense_Mutation_p.G530*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.G530*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.G530*|SLC4A4_uc003hgc.3_Nonsense_Mutation_p.G486*|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Nonsense_Mutation_p.G408*|SLC4A4_uc003hgb.3_Nonsense_Mutation_p.G486*	p.G530*	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	1705	+			530			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	ENST00000264485.5	37	c.1588G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	40	8.136192	0.98672	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	530;530;530;486;486	.	ENSP00000264485:G530X	G	+	1	0	SLC4A4	72551115	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	9.869000	0.99810	2.756000	0.94617	0.563000	0.77884	GGA		0.393	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		21	99	1	0	4.96729e-08	0.008871	5.79146e-08	21	99				
PKD2	5311	broad.mit.edu	37	4	88996731	88996731	+	Missense_Mutation	SNP	C	C	T	rs368926162	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:88996731C>T	ENST00000508588.1	+	10	1441	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	PKD2_ENST00000502363.1_Missense_Mutation_p.T349M|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.T931M			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.T931M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGTTTAGGCACGCCAGTGGGA	0.527													C|||	3	0.000599042	0.0	0.0	5008	,	,		17445	0.003		0.0	False		,,,				2504	0.0						uc003hre.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2791-2793)ACG>ATG		polycystin 2							165.0	147.0	153.0					4																	88996731		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88996731C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.1046C>T	4.37:g.88996731C>T	ENSP00000427131:p.Thr349Met					PKD2_uc011cdf.1_Missense_Mutation_p.T349M|PKD2_uc011cdg.1_Missense_Mutation_p.T257M|PKD2_uc011cdh.1_Missense_Mutation_p.T154M	p.T931M	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	15	2858	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	931			C-terminal coiled coil domain.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2792C>T		.	.	.	.	.	.	.	.	.	.	C	15.40	2.821777	0.50633	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92348	-0.4;-3.02;-3.02	4.92	3.12	0.35913	.	0.000000	0.85682	D	0.000000	D	0.92609	0.7652	L	0.56769	1.78	0.49389	D	0.999788	D	0.67145	0.996	P	0.55455	0.776	D	0.91388	0.5133	10	0.87932	D	0	-0.411	10.2423	0.43319	0.0:0.8329:0.0:0.1671	.	931	Q13563	PKD2_HUMAN	M	931;349;349	ENSP00000237596:T931M;ENSP00000427131:T349M;ENSP00000425289:T349M	ENSP00000237596:T931M	T	+	2	0	PKD2	89215755	0.983000	0.35010	0.025000	0.17156	0.459000	0.32528	2.618000	0.46393	0.436000	0.26393	0.585000	0.79938	ACG		0.527	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		40	40	0	0	0	0.00623	0	40	40				
HERC6	55008	broad.mit.edu	37	4	89349840	89349840	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:89349840G>T	ENST00000264346.7	+	16	2103	c.2044G>T	c.(2044-2046)Gtt>Ttt	p.V682F	HERC6_ENST00000380265.5_Missense_Mutation_p.V646F	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	682					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V682F(1)|p.L681L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAGTCGCCTGGTTAAAGATGC	0.368																																							uc011cdi.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(3)|ovary(1)|kidney(1)	5						c.(2044-2046)GTT>TTT		hect domain and RLD 6 isoform 1							35.0	32.0	33.0					4																	89349840		1846	4096	5942	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89349840G>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2044G>T	4.37:g.89349840G>T	ENSP00000264346:p.Val682Phe					HERC6_uc011cdj.1_Missense_Mutation_p.V646F|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.V682F	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	16	2227	+		Hepatocellular(203;0.114)	682					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.2044G>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366236	0.41902	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.80909	1.0;-1.43	4.25	1.56	0.23342	HECT (1);	0.306413	0.23487	N	0.047651	D	0.82838	0.5124	M	0.63843	1.955	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.60068	0.868;0.741	T	0.80712	-0.1260	10	0.87932	D	0	.	5.7257	0.18013	0.34:0.0:0.66:0.0	.	646;682	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	F	646;682	ENSP00000369617:V646F;ENSP00000264346:V682F	ENSP00000264346:V682F	V	+	1	0	HERC6	89568863	1.000000	0.71417	0.818000	0.32626	0.434000	0.31775	1.028000	0.30128	0.540000	0.28808	0.467000	0.42956	GTT		0.368	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			5	7	1	0	0.000602214	0.000602	0.000632629	5	7				
DAPP1	27071	broad.mit.edu	37	4	100774501	100774501	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:100774501C>T	ENST00000512369.1	+	4	553	c.485C>T	c.(484-486)cCt>cTt	p.P162L	DAPP1_ENST00000296414.7_Missense_Mutation_p.P162L	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	162					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)	p.P162L(2)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CCCACAGCACCTTCTGTAAGT	0.408																																							uc003hvf.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(484-486)CCT>CTT		dual adaptor of phosphotyrosine and							72.0	69.0	70.0					4																	100774501		1954	4147	6101	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100774501C>T	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.485C>T	4.37:g.100774501C>T	ENSP00000423602:p.Pro162Leu					DAPP1_uc011cek.1_Intron|DAPP1_uc010ilh.2_Missense_Mutation_p.P162L	p.P162L	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	4	575	+			162					Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.485C>T	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391054	0.42410	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.10382	2.88;2.88	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.24115	0.695	0.80722	D	1	B;B	0.26775	0.159;0.046	B;B	0.18871	0.023;0.01	T	0.27434	-1.0074	10	0.27082	T	0.32	-8.6423	17.7025	0.88299	0.0:1.0:0.0:0.0	.	162;162	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	L	162	ENSP00000296414:P162L;ENSP00000423602:P162L	ENSP00000296414:P162L	P	+	2	0	DAPP1	100993524	1.000000	0.71417	0.954000	0.39281	0.159000	0.22180	6.829000	0.75314	2.466000	0.83321	0.563000	0.77884	CCT		0.408	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			3	3	0	0	0	0.004672	0	3	3				
UBE2D3	7323	broad.mit.edu	37	4	103723778	103723778	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:103723778T>G	ENST00000453744.2	-	5	651	c.138A>C	c.(136-138)caA>caC	p.Q46H	UBE2D3_ENST00000507845.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000394801.4_Missense_Mutation_p.Q46H|UBE2D3_ENST00000338145.3_Missense_Mutation_p.Q46H|UBE2D3_ENST00000343106.5_Missense_Mutation_p.Q46H|UBE2D3_ENST00000505207.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000349311.8_Missense_Mutation_p.Q46H|UBE2D3_ENST00000394804.2_Missense_Mutation_p.Q46H|UBE2D3_ENST00000502404.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000394803.5_Missense_Mutation_p.Q46H|UBE2D3_ENST00000321805.7_Missense_Mutation_p.Q46H|UBE2D3_ENST00000504211.1_Missense_Mutation_p.Q17H|UBE2D3_ENST00000357194.6_Missense_Mutation_p.Q48H|UBE2D3_ENST00000350435.7_Missense_Mutation_p.Q40H	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	46					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Q48H(1)|p.Q46H(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		ATACACCGCCTTGATATGGGC	0.323																																							uc003hwk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(136-138)CAA>CAC		ubiquitin-conjugating enzyme E2D 3 isoform 1							92.0	98.0	96.0					4																	103723778		2203	4300	6503	SO:0001583	missense	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103723778T>G	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.138A>C	4.37:g.103723778T>G	ENSP00000396901:p.Gln46His					UBE2D3_uc003hwi.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.Q46H|UBE2D3_uc011cet.1_Missense_Mutation_p.Q46H|UBE2D3_uc011ceu.1_Missense_Mutation_p.Q46H|UBE2D3_uc003hwo.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwp.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwq.2_Missense_Mutation_p.Q48H|UBE2D3_uc003hwr.2_Missense_Mutation_p.Q46H	p.Q46H	NM_181887	NP_871616	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	5	599	-		Hepatocellular(203;0.217)	46					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	c.138A>C	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733465	0.48939	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404;ENST00000508476;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;0.97	5.74	5.74	0.90152	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.049416	0.85682	N	0.000000	T	0.60064	0.2240	L	0.35487	1.065	0.80722	D	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.15052	0.012;0.009;0.005	T	0.58814	-0.7570	10	0.66056	D	0.02	.	10.6884	0.45856	0.0:0.0802:0.0:0.9198	.	48;46;46	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	H	46;46;46;46;46;46;40;46;46;17;48;17;17;17;17;46;46;46	ENSP00000396901:Q46H;ENSP00000378280:Q46H;ENSP00000378282:Q46H;ENSP00000378283:Q46H;ENSP00000345285:Q46H;ENSP00000318494:Q46H;ENSP00000337262:Q40H;ENSP00000337208:Q46H;ENSP00000344069:Q46H;ENSP00000426620:Q17H;ENSP00000349722:Q48H;ENSP00000426586:Q17H;ENSP00000424359:Q17H;ENSP00000421904:Q17H;ENSP00000424710:Q17H;ENSP00000423487:Q46H;ENSP00000425762:Q46H;ENSP00000421310:Q46H	ENSP00000318494:Q46H	Q	-	3	2	UBE2D3	103942888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.720000	0.54933	2.189000	0.69895	0.402000	0.26972	CAA		0.323	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		33	34	0	0	0	0.012213	0	33	34				
ADAD1	132612	broad.mit.edu	37	4	123336679	123336679	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:123336679G>A	ENST00000296513.2	+	11	1580	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	ADAD1_ENST00000388725.2_Missense_Mutation_p.M447I|ADAD1_ENST00000388724.2_Missense_Mutation_p.M454I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	465	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.M465I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTTCAAATGAACTTGGAAT	0.388																																							uc003ieo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)ATG>ATA		adenosine deaminase domain containing 1							159.0	162.0	161.0					4																	123336679		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336679G>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1395G>A	4.37:g.123336679G>A	ENSP00000296513:p.Met465Ile					ADAD1_uc003iep.2_Missense_Mutation_p.M454I|ADAD1_uc003ieq.2_Missense_Mutation_p.M447I	p.M465I	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			11	1627	+			465			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1395G>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	1.268	-0.613830	0.03690	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93426	-3.22;-3.22;-3.22	5.25	-6.54	0.01860	Adenosine deaminase/editase (3);	0.704445	0.14919	N	0.290788	T	0.80717	0.4676	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.66528	-0.5901	10	0.26408	T	0.33	2.008	10.9914	0.47551	0.3557:0.0989:0.5454:0.0	.	454;465	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	465;454;447	ENSP00000296513:M465I;ENSP00000373376:M454I;ENSP00000373377:M447I	ENSP00000296513:M465I	M	+	3	0	ADAD1	123556129	0.000000	0.05858	0.021000	0.16686	0.155000	0.21991	-0.549000	0.06041	-0.865000	0.04073	-0.345000	0.07892	ATG		0.388	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		31	121	0	0	0	0.009535	0	31	121				
PCDH10	57575	broad.mit.edu	37	4	134084251	134084251	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:134084251C>T	ENST00000264360.5	+	4	3743	c.2917C>T	c.(2917-2919)Ctg>Ttg	p.L973L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	973					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L973L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGCAGCAATCTGCATGTTCC	0.532																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2917-2919)CTG>TTG		protocadherin 10 isoform 1 precursor							146.0	126.0	132.0					4																	134084251		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084251C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2917C>T	4.37:g.134084251C>T							p.L973L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3743	+			973			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2917C>T	CCDS34063.1																																																																																				0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		27	55	0	0	0	0.003954	0	27	55				
INPP4B	8821	broad.mit.edu	37	4	143352393	143352393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:143352393C>A	ENST00000513000.1	-	5	453	c.20G>T	c.(19-21)gGg>gTg	p.G7V	INPP4B_ENST00000506217.1_Missense_Mutation_p.G7V|INPP4B_ENST00000509777.1_Missense_Mutation_p.G7V|INPP4B_ENST00000507861.1_Missense_Mutation_p.G7V|INPP4B_ENST00000508116.1_Missense_Mutation_p.G7V|INPP4B_ENST00000308502.4_Missense_Mutation_p.G7V|INPP4B_ENST00000262992.4_Missense_Mutation_p.G7V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	7					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.G7V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTGATGCCCCTTCCTCTTT	0.418																																							uc003iix.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(19-21)GGG>GTG		inositol polyphosphate-4-phosphatase, type II,							159.0	144.0	149.0					4																	143352393		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143352393C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.20G>T	4.37:g.143352393C>A	ENSP00000425487:p.Gly7Val					INPP4B_uc003iiw.3_Missense_Mutation_p.G7V|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA	p.G7V	NM_003866	NP_003857	O15327	INP4B_HUMAN			5	615	-	all_hematologic(180;0.158)		7					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.20G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210847	0.58343	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788;ENST00000507861;ENST00000503927	T;T;T;T;T;T	0.30448	1.96;1.96;1.96;1.96;1.95;1.53	5.69	3.66	0.41972	.	0.489229	0.20743	N	0.086490	T	0.24661	0.0598	L	0.29908	0.895	0.43300	D	0.995296	B	0.16603	0.018	B	0.28139	0.086	T	0.06991	-1.0796	10	0.48119	T	0.1	.	10.8984	0.47036	0.0:0.7772:0.0:0.2228	.	7	O15327	INP4B_HUMAN	V	7	ENSP00000425487:G7V;ENSP00000262992:G7V;ENSP00000308441:G7V;ENSP00000423954:G7V;ENSP00000422793:G7V;ENSP00000427250:G7V	ENSP00000262992:G7V	G	-	2	0	INPP4B	143571843	0.881000	0.30235	0.914000	0.36105	0.992000	0.81027	1.409000	0.34680	1.405000	0.46838	0.643000	0.83706	GGG		0.418	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		7	22	1	0	0.000274275	0.004482	0.000291067	7	22				
NPY1R	4886	broad.mit.edu	37	4	164247106	164247106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:164247106G>A	ENST00000296533.2	-	2	1132	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	201					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.Q201*(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATGGAAATTGATCAAAGCAC	0.398																																							uc003iqm.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(601-603)CAA>TAA		neuropeptide Y receptor Y1							97.0	86.0	90.0					4																	164247106		2203	4300	6503	SO:0001587	stop_gained	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247106G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.601C>T	4.37:g.164247106G>A	ENSP00000354652:p.Gln201*					NPY1R_uc011cjj.1_Intron	p.Q201*	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	867	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	201			Extracellular (Potential).		B2R6H5	Nonsense_Mutation	SNP	ENST00000296533.2	37	c.601C>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143931	0.77888	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	.	.	.	5.84	0.652	0.17823	.	0.887861	0.09958	N	0.733742	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2191	0.25977	0.0954:0.0755:0.6146:0.2145	.	.	.	.	X	201;23	.	ENSP00000354652:Q201X	Q	-	1	0	NPY1R	164466556	0.000000	0.05858	0.718000	0.30602	0.939000	0.58152	-0.401000	0.07232	0.102000	0.17638	-0.262000	0.10625	CAA		0.398	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			10	15	0	0	0	0.006214	0	10	15				
TKTL2	84076	broad.mit.edu	37	4	164393186	164393186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:164393186G>T	ENST00000280605.3	-	1	1861	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	567						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.Y567*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACCTTCCCTGTAGTGATCCT	0.537																																							uc003iqp.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1699-1701)TAC>TAA		transketolase-like 2							104.0	91.0	96.0					4																	164393186		2203	4300	6503	SO:0001587	stop_gained	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393186G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1701C>A	4.37:g.164393186G>T	ENSP00000280605:p.Tyr567*						p.Y567*	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1862	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	567					A4FVB4|Q8NCT0|Q96M82	Nonsense_Mutation	SNP	ENST00000280605.3	37	c.1701C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267567	0.97426	.	.	ENSG00000151005	ENST00000280605	.	.	.	4.39	0.661	0.17874	.	0.074652	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.667	5.5454	0.17061	0.2602:0.1461:0.5937:0.0	.	.	.	.	X	567	.	ENSP00000280605:Y567X	Y	-	3	2	TKTL2	164612636	0.983000	0.35010	0.006000	0.13384	0.889000	0.51656	1.801000	0.38843	0.079000	0.16929	0.650000	0.86243	TAC		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		15	47	1	0	9.16793e-09	0.00499	1.08348e-08	15	47				
TLL1	7092	broad.mit.edu	37	4	167021921	167021921	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:167021921G>T	ENST00000061240.2	+	21	3582	c.2935G>T	c.(2935-2937)Gat>Tat	p.D979Y	TLL1_ENST00000507499.1_Missense_Mutation_p.D1002Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	979	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D979Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCAATTGGAGATTCAGTTTT	0.333																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2935-2937)GAT>TAT		tolloid-like 1 precursor							138.0	141.0	140.0					4																	167021921		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167021921G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2935G>T	4.37:g.167021921G>T	ENSP00000061240:p.Asp979Tyr					TLL1_uc011cjn.1_Missense_Mutation_p.D1002Y|TLL1_uc011cjo.1_Missense_Mutation_p.D803Y	p.D979Y	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	21	3582	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	979			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2935G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107974	0.56291	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.35605	1.3;1.3	5.49	4.64	0.57946	CUB (5);	0.424226	0.25987	U	0.027031	T	0.59487	0.2197	M	0.81179	2.53	0.80722	D	1	D;D	0.59767	0.986;0.957	D;P	0.63033	0.91;0.812	T	0.65829	-0.6073	10	0.66056	D	0.02	.	14.3259	0.66521	0.0716:0.0:0.9283:0.0	.	1002;979	E9PD25;O43897	.;TLL1_HUMAN	Y	979;1002	ENSP00000061240:D979Y;ENSP00000426082:D1002Y	ENSP00000061240:D979Y	D	+	1	0	TLL1	167241371	1.000000	0.71417	0.862000	0.33874	0.975000	0.68041	5.613000	0.67688	1.448000	0.47680	0.591000	0.81541	GAT		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			23	68	1	0	2.98393e-07	0.00278	3.39528e-07	23	68				
CCDC110	256309	broad.mit.edu	37	4	186379284	186379284	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:186379284C>G	ENST00000307588.3	-	6	2532	c.2457G>C	c.(2455-2457)ttG>ttC	p.L819F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L819F|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.L782F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	819			L -> M (in dbSNP:rs34800518).			nucleus (GO:0005634)		p.L819F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCGTACCTTTCAAATCCGAAG	0.368																																							uc003ixu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2455-2457)TTG>TTC		coiled-coil domain containing 110 isoform a							57.0	55.0	56.0					4																	186379284		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186379284C>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2457G>C	4.37:g.186379284C>G	ENSP00000306776:p.Leu819Phe					CCDC110_uc003ixv.3_Missense_Mutation_p.L782F|CCDC110_uc011ckt.1_Missense_Mutation_p.L819F	p.L819F	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2533	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	819					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2457G>C	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.503223	0.00992	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.14640	2.52;2.49;2.49	5.3	2.6	0.31112	.	0.655782	0.12815	N	0.436844	T	0.12008	0.0292	L	0.42245	1.32	0.22199	N	0.999296	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.21042	-1.0257	10	0.46703	T	0.11	0.1385	7.583	0.27976	0.0:0.6606:0.0:0.3394	.	819;782;819	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	F	782;819;819	ENSP00000377172:L782F;ENSP00000306776:L819F;ENSP00000427246:L819F	ENSP00000306776:L819F	L	-	3	2	CCDC110	186616278	0.340000	0.24792	0.978000	0.43139	0.121000	0.20230	0.034000	0.13776	0.732000	0.32470	0.650000	0.86243	TTG		0.368	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		3	36	0	0	0	0.009096	0	3	36				
SLC6A3	6531	broad.mit.edu	37	5	1443098	1443098	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:1443098G>A	ENST00000270349.9	-	2	342	c.215C>T	c.(214-216)tCc>tTc	p.S72F	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S72F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	72					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.S72F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCCAATGACGGACAGGAGAAA	0.612																																							uc003jck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(214-216)TCC>TTC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						110.0	98.0	102.0					5																	1443098		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443098G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.215C>T	5.37:g.1443098G>A	ENSP00000270349:p.Ser72Phe						p.S72F	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		2	336	-			72			Helical; Name=1; (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.215C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573059	0.65765	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.76968	-1.06;-1.06	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95389	0.8480	10	0.87932	D	0	.	15.2518	0.73552	0.0:0.0:1.0:0.0	.	72	Q01959	SC6A3_HUMAN	F	72	ENSP00000270349:S72F;ENSP00000399806:S72F	ENSP00000270349:S72F	S	-	2	0	SLC6A3	1496098	1.000000	0.71417	0.699000	0.30290	0.835000	0.47333	9.202000	0.95026	2.202000	0.70862	0.561000	0.74099	TCC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		18	139	0	0	0	0.007413	0	18	139				
IRX1	79192	broad.mit.edu	37	5	3600222	3600222	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:3600222A>G	ENST00000302006.3	+	2	1212	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	387					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.N387S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCCCTGCTCAACATGCGCTCC	0.672																																							uc003jde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1159-1161)AAC>AGC		iroquois homeobox protein 1							51.0	46.0	48.0					5																	3600222		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600222A>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1160A>G	5.37:g.3600222A>G	ENSP00000305244:p.Asn387Ser						p.N387S	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	1212	+			387					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1160A>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401923	0.42613	.	.	ENSG00000170549	ENST00000302006	T	0.62941	-0.01	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.52364	1.645	0.58432	D	0.999991	D	0.69078	0.997	D	0.75020	0.985	T	0.71361	-0.4616	10	0.38643	T	0.18	.	13.4544	0.61191	1.0:0.0:0.0:0.0	.	387	P78414	IRX1_HUMAN	S	387	ENSP00000305244:N387S	ENSP00000305244:N387S	N	+	2	0	IRX1	3653222	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	6.835000	0.75344	1.549000	0.49425	0.460000	0.39030	AAC		0.672	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		12	63	0	0	0	0.010729	0	12	63				
SEMA5A	9037	broad.mit.edu	37	5	9044623	9044623	+	Silent	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:9044623G>C	ENST00000382496.5	-	22	3632	c.2967C>G	c.(2965-2967)gtC>gtG	p.V989V	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	989					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.V989V(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGTAAGTATAGACGAGCAGGG	0.562																																							uc003jek.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2965-2967)GTC>GTG		semaphorin 5A precursor							134.0	118.0	123.0					5																	9044623		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044623G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2967C>G	5.37:g.9044623G>C							p.V989V	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			22	3679	-			989			Helical; (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.2967C>G	CCDS3875.1																																																																																				0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	140	0	0	0	0.010729	0	12	140				
DNAH5	1767	broad.mit.edu	37	5	13866016	13866016	+	Splice_Site	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:13866016C>A	ENST00000265104.4	-	27	4221		c.e27-1		CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAATTGATTCTAATAAAAAC	0.333									Kartagener syndrome																														uc003jfd.2		NA																	1	Unknown(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e27-1		dynein, axonemal, heavy chain 5							37.0	42.0	40.0					5																	13866016		2183	4288	6471	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13866016C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4117-1G>T	5.37:g.13866016C>A							p.N1373_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			27	4159	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.4117_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222916	0.79464	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5605	0.99326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13919016	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.811000	0.86092	2.868000	0.98415	0.637000	0.83480	.		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	53	37	1	0	7.34454e-26	0.01441	1.09746e-25	53	37				
ANKH	56172	broad.mit.edu	37	5	14751287	14751287	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:14751287G>A	ENST00000284268.6	-	5	908	c.578C>T	c.(577-579)cCg>cTg	p.P193L	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	193					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.P193L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGAGAGGATCGGGATGAGCAG	0.557																																							uc003jfm.3		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	upper_aerodigestive_tract(1)	1						c.(577-579)CCG>CTG		progressive ankylosis protein							68.0	65.0	66.0					5																	14751287		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14751287G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.578C>T	5.37:g.14751287G>A	ENSP00000284268:p.Pro193Leu						p.P193L	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			5	909	-			193			Helical; (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.578C>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431404	0.96150	.	.	ENSG00000154122	ENST00000284268	D	0.96459	-4.02	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98393	1.0564	10	0.72032	D	0.01	-31.5969	18.4427	0.90673	0.0:0.0:1.0:0.0	.	193	Q9HCJ1	ANKH_HUMAN	L	193	ENSP00000284268:P193L	ENSP00000284268:P193L	P	-	2	0	ANKH	14804287	1.000000	0.71417	0.966000	0.40874	0.929000	0.56500	9.731000	0.98807	2.590000	0.87494	0.650000	0.86243	CCG		0.557	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		7	81	0	0	0	0.001984	0	7	81				
ZNF622	90441	broad.mit.edu	37	5	16465718	16465718	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:16465718C>A	ENST00000308683.2	-	1	183	c.57G>T	c.(55-57)caG>caT	p.Q19H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	19					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q19H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGTGGGCCCGCTGCATGTCCG	0.637																																							uc003jfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)CAG>CAT		zinc finger protein 622							33.0	36.0	35.0					5																	16465718		2203	4294	6497	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465718C>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.57G>T	5.37:g.16465718C>A	ENSP00000310042:p.Gln19His						p.Q19H	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			1	177	-			19			U1-type 1.			Missense_Mutation	SNP	ENST00000308683.2	37	c.57G>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714510	0.89112	.	.	ENSG00000173545	ENST00000308683	T	0.41400	1.0	5.19	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73254	-0.4041	10	0.51188	T	0.08	-17.4996	14.0071	0.64470	0.0:0.9276:0.0:0.0724	.	19	Q969S3	ZN622_HUMAN	H	19	ENSP00000310042:Q19H	ENSP00000310042:Q19H	Q	-	3	2	ZNF622	16518718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.797000	0.55514	1.409000	0.46915	0.650000	0.86243	CAG		0.637	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		55	44	1	0	1.93748e-29	0.01441	2.94588e-29	55	44				
CDH18	1016	broad.mit.edu	37	5	19483608	19483608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:19483608C>A	ENST00000507958.1	-	14	2674	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y	CDH18_ENST00000274170.4_Missense_Mutation_p.D562Y|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.D562Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D562Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAATACACATCCTGAACAGTT	0.468																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1684-1686)GAT>TAT		cadherin 18, type 2 preproprotein							104.0	87.0	93.0					5																	19483608		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483608C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1684G>T	5.37:g.19483608C>A	ENSP00000425093:p.Asp562Tyr					CDH18_uc003jgd.2_Missense_Mutation_p.D562Y|CDH18_uc011cnm.1_Intron	p.D562Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2061	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		562			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1684G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767012	0.90020	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.60797	0.16;0.16;0.16	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.103923	0.64402	D	0.000004	T	0.78362	0.4271	M	0.91354	3.2	0.80722	D	1	D	0.55800	0.973	P	0.56163	0.793	T	0.82606	-0.0374	9	.	.	.	.	18.3739	0.90428	0.0:1.0:0.0:0.0	.	562	Q13634	CAD18_HUMAN	Y	562	ENSP00000371710:D562Y;ENSP00000425093:D562Y;ENSP00000274170:D562Y	.	D	-	1	0	CDH18	19519365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.782000	0.68973	2.696000	0.92011	0.655000	0.94253	GAT		0.468	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		12	51	1	0	1.61879e-10	0.013537	1.98531e-10	12	51				
PRDM9	56979	broad.mit.edu	37	5	23522857	23522857	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:23522857G>T	ENST00000296682.3	+	8	927	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.G249W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCTGAGAATTGGGCCATCAGG	0.587										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(745-747)GGG>TGG		PR domain containing 9							55.0	52.0	53.0					5																	23522857		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522857G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.745G>T	5.37:g.23522857G>T	ENSP00000296682:p.Gly249Trp	HNSCC(3;0.000094)					p.G249W	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	927	+			249			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.745G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630564	0.28978	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.42131	0.98	4.14	-3.39	0.04868	SET domain (1);	0.713668	0.11549	N	0.552923	T	0.50034	0.1592	L	0.59436	1.845	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.44034	-0.9354	10	0.62326	D	0.03	-5.4891	5.4261	0.16427	0.5447:0.1557:0.2996:0.0	.	249	Q9NQV7	PRDM9_HUMAN	W	249;43	ENSP00000296682:G249W	ENSP00000253473:G43W	G	+	1	0	PRDM9	23558614	0.205000	0.23458	0.018000	0.16275	0.179000	0.23085	0.273000	0.18662	-0.756000	0.04703	-0.493000	0.04662	GGG		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		47	32	1	0	1.86633e-21	0.01441	2.66619e-21	47	32				
CDH10	1008	broad.mit.edu	37	5	24491686	24491686	+	Splice_Site	SNP	C	C	A	rs184571175	byFrequency	TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:24491686C>A	ENST00000264463.4	-	11	2382	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	625					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L625L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTTTCTTACCCAGTAGAATGA	0.483										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1873-1875)CTG>CTT		cadherin 10, type 2 preproprotein							69.0	69.0	69.0					5																	24491686		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491686C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1876+1G>T	5.37:g.24491686C>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.L625L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2207	-			625			Helical; (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1875G>T	CCDS3892.1																																																																																				0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Silent	26	116	1	0	7.38237e-10	0.00632	8.92751e-10	26	116				
TARS	6897	broad.mit.edu	37	5	33455797	33455797	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:33455797G>T	ENST00000265112.3	+	6	992	c.681G>T	c.(679-681)ctG>ctT	p.L227L	TARS_ENST00000502553.1_Silent_p.L227L|TARS_ENST00000455217.2_Silent_p.L260L|TARS_ENST00000541634.1_Silent_p.L123L|TARS_ENST00000414361.2_Silent_p.L106L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	227					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.L227L(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAACTTTACTGGCAATGTTTA	0.368																																							uc003jhy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(679-681)CTG>CTT		threonyl-tRNA synthetase	L-Threonine(DB00156)						63.0	67.0	66.0					5																	33455797		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33455797G>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.681G>T	5.37:g.33455797G>T						TARS_uc011cob.1_Silent_p.L215L|TARS_uc010iup.1_Silent_p.L168L|TARS_uc011coc.1_Silent_p.L248L|TARS_uc003jhz.2_Silent_p.L123L|TARS_uc011cod.1_Silent_p.L106L	p.L227L	NM_152295	NP_689508	P26639	SYTC_HUMAN			6	976	+			227					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.681G>T	CCDS3899.1																																																																																				0.368	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		74	54	1	0	1.58458e-29	0.01441	2.41637e-29	74	54				
RXFP3	51289	broad.mit.edu	37	5	33937116	33937116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:33937116G>T	ENST00000330120.3	+	1	626	c.271G>T	c.(271-273)Gtg>Ttg	p.V91L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	91					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.V91L(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTACTGGGTGGTGTGCGCCCT	0.662																																							uc003jic.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(271-273)GTG>TTG		relaxin/insulin-like family peptide receptor 3							73.0	75.0	74.0					5																	33937116		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937116G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.271G>T	5.37:g.33937116G>T	ENSP00000328708:p.Val91Leu						p.V91L	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	628	+			91			Helical; Name=1; (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.271G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058936	0.93846	.	.	ENSG00000182631	ENST00000330120	T	0.21734	1.99	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.29908	0.895	0.58432	D	0.999999	D	0.56746	0.977	P	0.54401	0.751	T	0.01819	-1.1267	10	0.62326	D	0.03	-12.6869	19.5993	0.95554	0.0:0.0:1.0:0.0	.	91	Q9NSD7	RL3R1_HUMAN	L	91	ENSP00000328708:V91L	ENSP00000328708:V91L	V	+	1	0	RXFP3	33972873	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.761000	0.98940	2.704000	0.92352	0.655000	0.94253	GTG		0.662	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		57	30	1	0	8.52529e-16	0.01441	1.15147e-15	57	30				
DAB2	1601	broad.mit.edu	37	5	39383364	39383364	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:39383364C>G	ENST00000320816.6	-	10	1164	c.697G>C	c.(697-699)Gat>Cat	p.D233H	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.D212H|DAB2_ENST00000545653.1_Missense_Mutation_p.D212H|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	233	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.D233H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AACAGGATATCTTTGCTTTCC	0.343																																							uc003jlx.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(697-699)GAT>CAT		disabled homolog 2							93.0	103.0	100.0					5																	39383364		2203	4299	6502	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383364C>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.697G>C	5.37:g.39383364C>G	ENSP00000313391:p.Asp233His					DAB2_uc003jlw.2_Missense_Mutation_p.D212H	p.D233H	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1228	-	all_lung(31;0.000197)		233					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.697G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335025	0.60853	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.50001	0.76;1.01;1.01	5.65	5.65	0.86999	.	0.052032	0.85682	D	0.000000	T	0.67306	0.2879	L	0.59436	1.845	0.54753	D	0.999982	D;D	0.89917	0.999;1.0	P;D	0.72075	0.864;0.976	T	0.67852	-0.5563	10	0.87932	D	0	-17.4505	19.7068	0.96076	0.0:1.0:0.0:0.0	.	233;212	P98082;P98082-3	DAB2_HUMAN;.	H	233;212;212	ENSP00000313391:D233H;ENSP00000439919:D212H;ENSP00000426245:D212H	ENSP00000313391:D233H	D	-	1	0	DAB2	39419121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.703000	0.68340	2.824000	0.97209	0.655000	0.94253	GAT		0.343	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		13	170	0	0	0	0.001855	0	13	170				
MAP1B	4131	broad.mit.edu	37	5	71491552	71491552	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:71491552G>T	ENST00000296755.7	+	5	2668	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	790	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K790N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGAAGGCAAGGCCGCAGAGG	0.532																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2368-2370)AAG>AAT		microtubule-associated protein 1B							47.0	52.0	50.0					5																	71491552		2203	4299	6502	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491552G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2370G>T	5.37:g.71491552G>T	ENSP00000296755:p.Lys790Asn					MAP1B_uc010iyw.1_Missense_Mutation_p.K807N|MAP1B_uc010iyx.1_Missense_Mutation_p.K664N|MAP1B_uc010iyy.1_Missense_Mutation_p.K664N	p.K790N	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2611	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	790			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2370G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.196044	0.22037	.	.	ENSG00000131711	ENST00000296755	T	0.04194	3.68	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000012	T	0.12092	0.0294	L	0.40543	1.245	0.44702	D	0.997691	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.03240	-1.1057	10	0.36615	T	0.2	-14.906	10.7354	0.46122	0.115:0.0:0.885:0.0	.	664;790	A2BDK6;P46821	.;MAP1B_HUMAN	N	790	ENSP00000296755:K790N	ENSP00000296755:K790N	K	+	3	2	MAP1B	71527308	1.000000	0.71417	0.950000	0.38849	0.362000	0.29581	2.524000	0.45589	2.644000	0.89710	0.655000	0.94253	AAG		0.532	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		24	12	1	0	2.21704e-12	0.00278	2.87496e-12	24	12				
BHMT	635	broad.mit.edu	37	5	78416224	78416224	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:78416224G>A	ENST00000274353.5	+	4	444	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	113	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E113K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AGTGGCTGATGAAGGAGATGC	0.428																																							uc003kfu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)GAA>AAA		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						59.0	57.0	58.0					5																	78416224		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78416224G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.337G>A	5.37:g.78416224G>A	ENSP00000274353:p.Glu113Lys					BHMT_uc011cti.1_Intron	p.E113K	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	4	442	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	113			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.337G>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355245	0.82243	.	.	ENSG00000145692	ENST00000274353	T	0.32753	1.44	5.22	5.22	0.72569	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.41124	1.26	0.80722	D	1	B	0.28400	0.21	B	0.39379	0.298	T	0.08432	-1.0722	10	0.27082	T	0.32	-26.4274	19.1596	0.93526	0.0:0.0:1.0:0.0	.	113	Q93088	BHMT1_HUMAN	K	113	ENSP00000274353:E113K	ENSP00000274353:E113K	E	+	1	0	BHMT	78451980	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	9.420000	0.97426	2.602000	0.87976	0.557000	0.71058	GAA		0.428	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		7	18	0	0	0	0.00308	0	7	18				
MCC	4163	broad.mit.edu	37	5	112720857	112720857	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:112720857C>T	ENST00000408903.3	-	2	638	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCATGATCTCAGCCACAGAC	0.433																																							uc003kql.3		NA																	0				ovary(1)	1						c.(223-225)GAG>AAG		mutated in colorectal cancers isoform 1							128.0	117.0	121.0					5																	112720857		1902	4121	6023	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112720857C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.223G>A	5.37:g.112720857C>T	ENSP00000386227:p.Glu75Lys					MCC_uc003kqk.3_RNA	p.E75K	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	639	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	Error:Variant_position_missing_in_P23508_after_alignment					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.223G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855651	0.71834	.	.	ENSG00000171444	ENST00000408903	T	0.70631	-0.5	4.7	4.7	0.59300	.	0.105801	0.37955	N	0.001861	T	0.74168	0.3681	.	.	.	0.38507	D	0.948383	P	0.50528	0.936	P	0.47673	0.554	T	0.80600	-0.1310	9	0.72032	D	0.01	-7.29	17.1098	0.86672	0.0:1.0:0.0:0.0	.	75	P23508-2	.	K	75	ENSP00000386227:E75K	ENSP00000386227:E75K	E	-	1	0	MCC	112748756	1.000000	0.71417	0.988000	0.46212	0.708000	0.40852	5.417000	0.66423	2.542000	0.85734	0.650000	0.86243	GAG		0.433	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		5	64	0	0	0	0.001168	0	5	64				
PGGT1B	5229	broad.mit.edu	37	5	114566676	114566676	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:114566676G>A	ENST00000419445.1	-	6	675	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	PGGT1B_ENST00000379615.3_Intron|PGGT1B_ENST00000514178.1_5'UTR	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	219	Geranylgeranyl diphosphate binding. {ECO:0000250}.				negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GTCTTACCATGAGATTCAAGT	0.338																																							uc003kqw.3		NA																	0					0						c.(655-657)CAT>TAT		geranylgeranyltransferase type 1 beta	Pravastatin(DB00175)						89.0	84.0	86.0					5																	114566676		2202	4299	6501	SO:0001583	missense	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114566676G>A		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.655C>T	5.37:g.114566676G>A	ENSP00000404676:p.His219Tyr					PGGT1B_uc003kqx.3_Missense_Mutation_p.H96Y|PGGT1B_uc010jch.2_Intron	p.H219Y	NM_005023	NP_005014	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	6	676	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	219			PFTB 2.		Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	37	c.655C>T	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022151	0.93462	.	.	ENSG00000164219	ENST00000419445	T	0.56611	0.45	5.82	5.82	0.92795	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.045450	0.85682	D	0.000000	D	0.83110	0.5183	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88182	0.2871	10	0.87932	D	0	-17.3372	19.7015	0.96057	0.0:0.0:1.0:0.0	.	219	P53609	PGTB1_HUMAN	Y	219	ENSP00000404676:H219Y	ENSP00000404676:H219Y	H	-	1	0	PGGT1B	114594575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.305000	0.96197	2.745000	0.94114	0.650000	0.86243	CAT		0.338	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		5	36	0	0	0	0.000602	0	5	36				
SEMA6A	57556	broad.mit.edu	37	5	115782751	115782751	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:115782751C>T	ENST00000343348.6	-	19	3438	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	SEMA6A_ENST00000510263.1_Missense_Mutation_p.R884Q|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R901Q|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R263Q|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R361Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R311Q|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	884					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.R884Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGAGGCCTCCCGCTGTGGAAC	0.582																																							uc010jck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2650-2652)CGG>CAG		sema domain, transmembrane domain (TM), and							95.0	102.0	100.0					5																	115782751		1928	4101	6029	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782751C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2651G>A	5.37:g.115782751C>T	ENSP00000345512:p.Arg884Gln					SEMA6A_uc003krx.3_Missense_Mutation_p.R901Q|SEMA6A_uc011cwe.1_Missense_Mutation_p.R263Q|SEMA6A_uc003krv.3_Missense_Mutation_p.R311Q|SEMA6A_uc003krw.3_Missense_Mutation_p.R361Q|SEMA6A_uc010jcj.2_Missense_Mutation_p.R428Q	p.R884Q	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3360	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	884			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2651G>A	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.424732|4.424732	0.83667|0.83667	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.58210	.|1.75;1.68;0.35;2.24;0.42;1.75	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.574013	.|0.16605	.|N	.|0.207164	T|T	0.70971|0.70971	0.3285|0.3285	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D	.|0.83275	.|0.986;0.994;0.996;0.996;0.996;0.99	T|T	0.71341|0.71341	-0.4622|-0.4622	5|10	.|0.56958	.|D	.|0.05	.|.	18.3652|18.3652	0.90388|0.90388	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|263;884;428;901;361;311	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	R|Q	399|884;901;311;361;263;884	.|ENSP00000345512:R884Q;ENSP00000257414:R901Q;ENSP00000422997:R311Q;ENSP00000282394:R361Q;ENSP00000425364:R263Q;ENSP00000424388:R884Q	.|ENSP00000257414:R901Q	G|R	-|-	1|2	0|0	SEMA6A|SEMA6A	115810650|115810650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.443000|7.443000	0.80521|0.80521	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.582	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		54	47	0	0	0	0.01441	0	54	47				
SEMA6A	57556	broad.mit.edu	37	5	115782852	115782852	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:115782852C>A	ENST00000343348.6	-	19	3337	c.2550G>T	c.(2548-2550)ctG>ctT	p.L850L	SEMA6A_ENST00000510263.1_Silent_p.L850L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L867L|SEMA6A_ENST00000503865.1_Silent_p.L229L|SEMA6A_ENST00000282394.6_Silent_p.L327L|SEMA6A_ENST00000513137.1_Silent_p.L277L|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	850					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L850L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTTATACTCCAGTGTGGCGG	0.592																																							uc010jck.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2548-2550)CTG>CTT		sema domain, transmembrane domain (TM), and							225.0	227.0	227.0					5																	115782852		2065	4209	6274	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782852C>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2550G>T	5.37:g.115782852C>A						SEMA6A_uc003krx.3_Silent_p.L867L|SEMA6A_uc011cwe.1_Silent_p.L229L|SEMA6A_uc003krv.3_Silent_p.L277L|SEMA6A_uc003krw.3_Silent_p.L327L|SEMA6A_uc010jcj.2_Silent_p.L394L	p.L850L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3259	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	850			Cytoplasmic (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2550G>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	0.933	-0.711954	0.03206	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.01	-0.521	0.11931	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29458	-1.0011	4	.	.	.	.	0.2577	0.00214	0.2137:0.2803:0.2289:0.2771	.	.	.	.	L	365	.	.	W	-	2	0	SEMA6A	115810751	0.997000	0.39634	0.998000	0.56505	0.636000	0.38137	0.552000	0.23376	0.141000	0.18875	0.563000	0.77884	TGG		0.592	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		99	91	1	0	2.38877e-60	0.01441	3.75275e-60	99	91				
DMXL1	1657	broad.mit.edu	37	5	118525409	118525409	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:118525409C>T	ENST00000311085.8	+	29	7222	c.7142C>T	c.(7141-7143)tCa>tTa	p.S2381L	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2381L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2381								p.S2381L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAGTTTCTTCACTAGTTGAA	0.363																																							uc003ksd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(7141-7143)TCA>TTA		Dmx-like 1							60.0	62.0	62.0					5																	118525409		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118525409C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7142C>T	5.37:g.118525409C>T	ENSP00000309690:p.Ser2381Leu					DMXL1_uc010jcl.1_Missense_Mutation_p.S2381L	p.S2381L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7323	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2381						Missense_Mutation	SNP	ENST00000311085.8	37	c.7142C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714354	0.48622	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10860	2.83;2.84	6.05	5.17	0.71159	.	0.190117	0.44285	D	0.000476	T	0.15219	0.0367	M	0.68952	2.095	0.38635	D	0.951473	B;B	0.26845	0.161;0.025	B;B	0.23716	0.048;0.013	T	0.02294	-1.1181	10	0.48119	T	0.1	-14.8325	14.4473	0.67359	0.0:0.9289:0.0:0.0711	.	2381;2381	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2381	ENSP00000309690:S2381L;ENSP00000439479:S2381L	ENSP00000309690:S2381L	S	+	2	0	DMXL1	118553308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.918000	0.48829	1.543000	0.49345	0.650000	0.86243	TCA		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		17	38	0	0	0	0.006122	0	17	38				
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140531513G>A	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V559M(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721																																							uc003lir.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1675-1677)GTG>ATG		protocadherin beta 6 precursor							28.0	35.0	33.0					5																	140531513		2199	4296	6495	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531513G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1675G>A	5.37:g.140531513G>A	ENSP00000231136:p.Val559Met					PCDHB6_uc011dah.1_Missense_Mutation_p.V423M	p.V559M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1675	+			559			Cadherin 5.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1675G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125280	0.56721	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.20738	2.05;2.05	4.19	4.19	0.49359	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.43700	0.1259	M	0.83953	2.67	0.30620	N	0.758587	D	0.89917	1.0	D	0.68192	0.956	T	0.50608	-0.8808	9	0.87932	D	0	.	5.8246	0.18546	0.0988:0.0:0.6498:0.2513	.	559	Q9Y5E3	PCDB6_HUMAN	M	423;559	ENSP00000438466:V423M;ENSP00000231136:V559M	ENSP00000231136:V559M	V	+	1	0	PCDHB6	140511697	0.109000	0.22037	1.000000	0.80357	0.994000	0.84299	0.604000	0.24164	2.047000	0.60756	0.556000	0.70494	GTG		0.721	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		28	32	0	0	0	0.003755	0	28	32				
PCDHB7	56129	broad.mit.edu	37	5	140552772	140552772	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140552772C>T	ENST00000231137.3	+	1	530	c.356C>T	c.(355-357)gCt>gTt	p.A119V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A119V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTCCGTGCTGAACTATGG	0.448																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(355-357)GCT>GTT		protocadherin beta 7 precursor							65.0	68.0	67.0					5																	140552772		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552772C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.356C>T	5.37:g.140552772C>T	ENSP00000231137:p.Ala119Val						p.A119V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	530	+			119			Extracellular (Potential).|Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.356C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253997	0.22965	.	.	ENSG00000113212	ENST00000231137	T	0.38560	1.13	4.61	4.61	0.57282	.	.	.	.	.	T	0.20455	0.0492	N	0.05592	-0.015	0.27919	N	0.938333	B	0.19200	0.034	B	0.23852	0.049	T	0.23440	-1.0188	9	0.10902	T	0.67	.	6.6973	0.23205	0.0:0.765:0.0:0.235	.	119	Q9Y5E2	PCDB7_HUMAN	V	119	ENSP00000231137:A119V	ENSP00000231137:A119V	A	+	2	0	PCDHB7	140532956	0.002000	0.14202	1.000000	0.80357	0.871000	0.50021	1.514000	0.35834	2.248000	0.74166	0.655000	0.94253	GCT		0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		20	32	0	0	0	0.007413	0	20	32				
PCDHB8	56128	broad.mit.edu	37	5	140559034	140559034	+	Missense_Mutation	SNP	C	C	A	rs113701735		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:140559034C>A	ENST00000239444.2	+	1	1664	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S473R(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662																																							uc011dai.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1417-1419)AGC>AGA		protocadherin beta 8 precursor							81.0	123.0	109.0					5																	140559034		2203	4294	6497	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559034C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1419C>A	5.37:g.140559034C>A	ENSP00000239444:p.Ser473Arg					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.S473R	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1605	+			473			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1419C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444177	0.43429	.	.	ENSG00000120322	ENST00000239444	T	0.01838	4.61	4.26	1.43	0.22495	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	1	D	0.63046	0.992	D	0.69479	0.964	T	0.42310	-0.9459	9	0.54805	T	0.06	.	3.8742	0.09050	0.2768:0.4724:0.0:0.2508	.	473	Q9UN66	PCDB8_HUMAN	R	473	ENSP00000239444:S473R	ENSP00000239444:S473R	S	+	3	2	PCDHB8	140539218	0.000000	0.05858	0.998000	0.56505	0.971000	0.66376	-0.139000	0.10358	0.785000	0.33685	0.305000	0.20034	AGC		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		54	541	1	0	1.31726e-23	0.01441	1.94044e-23	54	541				
SH3TC2	79628	broad.mit.edu	37	5	148418026	148418026	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:148418026C>T	ENST00000515425.1	-	8	934	c.833G>A	c.(832-834)gGt>gAt	p.G278D	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G163D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G271D|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	278	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.G278D(1)|p.G163D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCATAACCCGTCAAGGC	0.478																																							uc003lpu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(832-834)GGT>GAT		SH3 domain and tetratricopeptide repeats 2							157.0	160.0	159.0					5																	148418026		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148418026C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.833G>A	5.37:g.148418026C>T	ENSP00000423660:p.Gly278Asp					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.G271D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G163D	p.G278D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	985	-			278			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.833G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.182497	0.00308	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.35789	1.29;1.29;1.29	4.88	2.09	0.27110	Src homology-3 domain (4);	0.373255	0.25857	N	0.027860	T	0.04497	0.0123	N	0.00022	-2.725	0.19575	N	0.999966	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.42666	-0.9438	10	0.02654	T	1	.	7.3349	0.26605	0.0:0.2042:0.0:0.7958	.	163;271;278	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	D	278;271;163	ENSP00000423660:G278D;ENSP00000421860:G271D;ENSP00000377886:G163D	ENSP00000377886:G163D	G	-	2	0	SH3TC2	148398219	1.000000	0.71417	0.120000	0.21714	0.002000	0.02628	2.500000	0.45381	0.274000	0.22072	-0.459000	0.05422	GGT		0.478	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		60	44	0	0	0	0.01441	0	60	44				
NMUR2	56923	broad.mit.edu	37	5	151777633	151777633	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:151777633T>G	ENST00000255262.3	-	2	964	c.799A>C	c.(799-801)Aac>Cac	p.N267H	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	267					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.N267H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGCATCTTGTTGACTGATTTT	0.398																																							uc003luv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(799-801)AAC>CAC		neuromedin U receptor 2							138.0	131.0	133.0					5																	151777633		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151777633T>G	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.799A>C	5.37:g.151777633T>G	ENSP00000255262:p.Asn267His						p.N267H	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		2	965	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	267			Helical; Name=6; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.799A>C	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588339	0.46110	.	.	ENSG00000132911	ENST00000255262	T	0.72051	-0.62	5.8	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.218017	0.40469	N	0.001094	T	0.67720	0.2923	L	0.48642	1.525	0.25169	N	0.990293	P	0.43938	0.822	P	0.44623	0.455	T	0.62134	-0.6918	10	0.56958	D	0.05	-12.0026	12.2618	0.54655	0.0:0.0:0.1421:0.8579	.	267	Q9GZQ4	NMUR2_HUMAN	H	267	ENSP00000255262:N267H	ENSP00000255262:N267H	N	-	1	0	NMUR2	151757826	1.000000	0.71417	0.985000	0.45067	0.451000	0.32288	2.866000	0.48420	0.990000	0.38787	0.477000	0.44152	AAC		0.398	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		21	19	0	0	0	0.00278	0	21	19				
SGCD	6444	broad.mit.edu	37	5	156186318	156186318	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:156186318T>A	ENST00000435422.3	+	8	1274	c.787T>A	c.(787-789)Tgc>Agc	p.C263S	SGCD_ENST00000337851.4_Missense_Mutation_p.C264S	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	263					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.C264S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCGAGATCTGCGTCTGCGC	0.493																																							uc003lwd.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(787-789)TGC>AGC		delta-sarcoglycan isoform 3							135.0	129.0	131.0					5																	156186318		1969	4176	6145	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186318T>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.787T>A	5.37:g.156186318T>A	ENSP00000403003:p.Cys263Ser					SGCD_uc003lwc.3_Missense_Mutation_p.C264S	p.C263S	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1263	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	263			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.787T>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914274	0.92178	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.99239	-5.61;-5.61	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	M	0.80847	2.515	0.80722	D	1	D;D	0.62365	0.991;0.989	D;D	0.76071	0.987;0.978	D	0.98920	1.0783	10	0.87932	D	0	-6.8379	14.8886	0.70590	0.0:0.0:0.0:1.0	.	263;264	Q92629;Q92629-2	SGCD_HUMAN;.	S	263;264	ENSP00000403003:C263S;ENSP00000338343:C264S	ENSP00000338343:C264S	C	+	1	0	SGCD	156118896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.544000	0.82117	1.981000	0.57761	0.533000	0.62120	TGC		0.493	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			41	25	0	0	0	0.00874	0	41	25				
ADAM19	8728	broad.mit.edu	37	5	156915450	156915450	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:156915450G>T	ENST00000517905.1	-	21	2417	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	ADAM19_ENST00000257527.4_Silent_p.P791P|ADAM19_ENST00000394020.1_Silent_p.P793P|ADAM19_ENST00000430702.2_Silent_p.P524P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P791P(1)|p.P792P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGGGGCCGGGGAGGAGGCT	0.617																																							uc003lwz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2371-2373)CCC>CCA		ADAM metallopeptidase domain 19 preproprotein							34.0	37.0	36.0					5																	156915450		2201	4293	6494	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915450G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2373C>A	5.37:g.156915450G>T						ADAM19_uc003lww.1_Silent_p.P524P|ADAM19_uc003lwy.2_Silent_p.P390P|ADAM19_uc011ddr.1_Silent_p.P722P	p.P791P	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2437	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	791			Cytoplasmic (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2373C>A		.	.	.	.	.	.	.	.	.	.	G	0.688	-0.795682	0.02862	.	.	ENSG00000135074	ENST00000517374	T	0.03607	3.87	5.58	-2.68	0.06041	.	0.089642	0.49305	D	0.000145	T	0.02970	0.0088	.	.	.	0.22253	N	0.999255	.	.	.	.	.	.	T	0.35748	-0.9776	7	0.45353	T	0.12	.	1.495	0.02464	0.2861:0.2324:0.3626:0.119	.	.	.	.	H	362	ENSP00000431027:P362H	ENSP00000431027:P362H	P	-	2	0	ADAM19	156848028	0.018000	0.18449	0.691000	0.30163	0.095000	0.18619	-0.952000	0.03881	-0.638000	0.05509	-1.359000	0.01217	CCC		0.617	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		20	25	1	0	8.10497e-08	0.010504	9.36575e-08	20	25				
GABRA1	2554	broad.mit.edu	37	5	161302569	161302569	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:161302569G>A	ENST00000428797.2	+	7	835	c.480G>A	c.(478-480)ctG>ctA	p.L160L	GABRA1_ENST00000023897.6_Silent_p.L160L|GABRA1_ENST00000444819.1_Silent_p.L160L|GABRA1_ENST00000393943.4_Silent_p.L160L|GABRA1_ENST00000420560.1_Silent_p.L160L|GABRA1_ENST00000437025.2_Silent_p.L160L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	160					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L160L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCTTAAGGCTGACAGTGAGAG	0.368																																							uc010jiw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(478-480)CTG>CTA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						162.0	158.0	159.0					5																	161302569		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161302569G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.480G>A	5.37:g.161302569G>A						GABRA1_uc010jix.2_Silent_p.L160L|GABRA1_uc010jiy.2_Silent_p.L160L|GABRA1_uc003lyx.3_Silent_p.L160L|GABRA1_uc010jiz.2_Silent_p.L160L|GABRA1_uc010jja.2_Silent_p.L160L|GABRA1_uc010jjb.2_Silent_p.L160L	p.L160L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	7	948	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	160			Extracellular (Probable).		D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.480G>A	CCDS4357.1																																																																																				0.368	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		26	19	0	0	0	0.003954	0	26	19				
TENM2	57451	broad.mit.edu	37	5	167654946	167654946	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:167654946G>A	ENST00000518659.1	+	25	5370	c.5331G>A	c.(5329-5331)agG>agA	p.R1777R	TENM2_ENST00000403607.2_Silent_p.R1601R|TENM2_ENST00000545108.1_Silent_p.R1776R|TENM2_ENST00000520394.1_Silent_p.R1538R|TENM2_ENST00000519204.1_Silent_p.R1656R|CTB-178M22.2_ENST00000519795.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1777					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R1777R(1)|p.R1656R(1)|p.R1610R(1)									GTACCCTGAGGGTGATGTATG	0.507																																							uc010jjd.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5302-5304)AGG>AGA		odz, odd Oz/ten-m homolog 2							63.0	63.0	63.0					5																	167654946		1948	4154	6102	SO:0001819	synonymous_variant	57451							g.chr5:167654946G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5331G>A	5.37:g.167654946G>A						ODZ2_uc003lzr.3_Silent_p.R1538R|ODZ2_uc003lzt.3_Silent_p.R1141R|ODZ2_uc010jje.2_Silent_p.R1032R	p.R1768R	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	25	5304	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5304G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	5	0	0	0	0.001168	0	6	5				
F12	2161	broad.mit.edu	37	5	176832080	176832080	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:176832080G>A	ENST00000253496.3	-	6	552	c.504C>T	c.(502-504)gcC>gcT	p.A168A	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	168	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.A168A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCTGGCAGTGGGCATCAGGAC	0.602									Hereditary Angioedema																														uc003mgo.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(502-504)GCC>GCT		coagulation factor XII precursor							33.0	34.0	34.0					5																	176832080		2203	4300	6503	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176832080G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.504C>T	5.37:g.176832080G>A						F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	p.A168A	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	553	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	168			Fibronectin type-I.		P78339	Silent	SNP	ENST00000253496.3	37	c.504C>T	CCDS34302.1																																																																																				0.602	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			12	21	0	0	0	0.010729	0	12	21				
RMND5B	64777	broad.mit.edu	37	5	177571094	177571094	+	Missense_Mutation	SNP	C	C	T	rs373548331		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:177571094C>T	ENST00000515098.1	+	8	1030	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RMND5B_ENST00000313386.4_Missense_Mutation_p.R227W|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214W			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	227								p.R227W(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTTGCTCGGCTGCACCA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14910	0.0		0.0	False		,,,				2504	0.0						uc003mim.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)CGG>TGG		required for meiotic nuclear division 5 homolog		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		679	2.6	0.4	5		35	0,8600		0,0,4300	no	missense	RMND5B	NM_022762.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	227/394	177571094	1,13005	2203	4300	6503	SO:0001583	missense	64777							g.chr5:177571094C>T	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.679C>T	5.37:g.177571094C>T	ENSP00000420875:p.Arg227Trp					RMND5B_uc003min.2_Missense_Mutation_p.R227W|RMND5B_uc003mio.2_Missense_Mutation_p.R214W|RMND5B_uc003mip.2_Missense_Mutation_p.R227W|RMND5B_uc011dgf.1_Missense_Mutation_p.R268W|RMND5B_uc003miq.2_Missense_Mutation_p.R167W	p.R227W	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	859	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	227					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.679C>T	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726424	0.30593	2.27E-4	0.0	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.41	2.6	0.31112	Ran binding protein-like, CRA domain (1);	0.401733	0.26453	N	0.024289	T	0.37785	0.1016	L	0.38175	1.15	0.09310	N	1	D;D;P	0.64830	0.994;0.993;0.939	P;P;P	0.59703	0.862;0.784;0.849	T	0.16012	-1.0417	9	0.72032	D	0.01	-10.6598	3.2772	0.06902	0.1766:0.5557:0.1714:0.0963	.	214;214;227	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	W	227;227;214	.	ENSP00000320623:R227W	R	+	1	2	RMND5B	177503700	0.002000	0.14202	0.386000	0.26170	0.101000	0.19017	1.323000	0.33701	0.473000	0.27368	0.313000	0.20887	CGG		0.637	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		3	29	0	0	0	0.004672	0	3	29				
RREB1	6239	broad.mit.edu	37	6	7211137	7211137	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:7211137C>G	ENST00000349384.6	+	7	840	c.526C>G	c.(526-528)Cac>Gac	p.H176D	RREB1_ENST00000379933.3_Missense_Mutation_p.H176D|RREB1_ENST00000334984.6_Missense_Mutation_p.H176D|RREB1_ENST00000379938.2_Missense_Mutation_p.H176D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	176					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H176D(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACTGAGTCACGATGCCGA	0.522																																							uc003mxc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(526-528)CAC>GAC		ras responsive element binding protein 1 isoform							143.0	137.0	139.0					6																	7211137		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211137C>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.526C>G	6.37:g.7211137C>G	ENSP00000305560:p.His176Asp					RREB1_uc010jnw.2_Missense_Mutation_p.H176D|RREB1_uc003mxb.2_Missense_Mutation_p.H176D|RREB1_uc010jnx.2_Missense_Mutation_p.H176D|RREB1_uc003mxd.2_Missense_Mutation_p.H176D	p.H176D	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			7	916	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	176					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.526C>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269700	0.40095	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.11712	2.91;2.87;2.91;2.75;2.86	5.29	5.29	0.74685	.	0.210087	0.32819	N	0.005614	T	0.20333	0.0489	L	0.51422	1.61	0.34240	D	0.677505	P;P;D	0.67145	0.955;0.925;0.996	B;B;D	0.77557	0.444;0.325;0.99	T	0.00928	-1.1511	10	0.87932	D	0	-21.1096	17.7287	0.88371	0.0:1.0:0.0:0.0	.	176;176;176	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	176	ENSP00000369265:H176D;ENSP00000369270:H176D;ENSP00000305560:H176D;ENSP00000335574:H176D;ENSP00000419511:H176D	ENSP00000335574:H176D	H	+	1	0	RREB1	7156136	1.000000	0.71417	0.943000	0.38184	0.289000	0.27227	2.241000	0.43097	2.484000	0.83849	0.585000	0.79938	CAC		0.522	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			14	112	0	0	0	0.003163	0	14	112				
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7988181	7988181	+	Intron	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:7988181A>C	ENST00000439343.2	-	4	372				TXNDC5_ENST00000539054.1_Intron					BLOC1S5-TXNDC5 readthrough (NMD candidate)									p.Y471S(1)									TGCATTACTTACCAGCCATTG	0.473																																							uc003mxx.3		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(1411-1413)TAC>TCC		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																				SO:0001627	intron_variant	206426							g.chr6:7988181A>C			6p24.3	2013-05-09	2013-05-09	2012-08-01	ENSG00000259040	ENSG00000259040			42001	other	readthrough			"""MUTED-TXNDC5 readthrough (non-protein coding)"""	MUTED-TXNDC5			Standard	NR_037616		Approved				OTTHUMG00000171453	ENST00000439343.2:c.372+38418T>G	6.37:g.7988181A>C						TXNDC5_uc003mxw.2_Intron	p.Y471S	NR_027712						1	1847	+									Missense_Mutation	SNP	ENST00000439343.2	37	c.1412A>C																																																																																					0.473	BLOC1S5-TXNDC5-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413472.1	NR_037616.1		8	39	0	0	0	0.00245	0	8	39				
SYCP2L	221711	broad.mit.edu	37	6	10906288	10906288	+	Splice_Site	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:10906288G>C	ENST00000283141.6	+	9	972		c.e9+1		SYCP2L_ENST00000543878.1_Splice_Site|RP11-637O19.3_ENST00000480294.1_Splice_Site	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus (GO:0005634)		p.?(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTGTGGGTGGTAAGAAATTT	0.333																																							uc003mzo.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e9+1		synaptonemal complex protein 2-like							129.0	130.0	130.0					6																	10906288		1799	4075	5874	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10906288G>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.676+1G>C	6.37:g.10906288G>C						SYCP2L_uc011din.1_Splice_Site_p.D67_splice|SYCP2L_uc010jow.2_Splice_Site	p.D226_splice	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		9	972	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)						A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	SNP	ENST00000283141.6	37	c.676_splice	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974294	0.74246	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5347	0.87825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP2L	11014274	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.136000	0.71703	2.732000	0.93576	0.650000	0.86243	.		0.333	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Intron	6	168	0	0	0	0.00308	0	6	168				
CD83	9308	broad.mit.edu	37	6	14135350	14135350	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:14135350G>T	ENST00000379153.3	+	5	672	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	167					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R167R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AGTTTGCACGGCTACAGAGTA	0.398																																							uc003nbi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)CGG>CGT		CD83 antigen isoform a							82.0	88.0	86.0					6																	14135350		2203	4300	6503	SO:0001819	synonymous_variant	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14135350G>T	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.501G>T	6.37:g.14135350G>T						CD83_uc003nbh.2_Silent_p.R166R	p.R167R	NM_004233	NP_004224	Q01151	CD83_HUMAN			5	679	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	167			Cytoplasmic (Potential).		Q5THX9	Silent	SNP	ENST00000379153.3	37	c.501G>T	CCDS4532.1																																																																																				0.398	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			12	110	1	0	9.31168e-06	0.001855	1.02369e-05	12	110				
SLC17A4	10050	broad.mit.edu	37	6	25777090	25777090	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:25777090A>T	ENST00000377905.4	+	10	1290	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C	SLC17A4_ENST00000439485.2_Missense_Mutation_p.S161C|SLC17A4_ENST00000397076.2_Missense_Mutation_p.S189C	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	391					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.S391C(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCAGATCCAGCCACAGCAT	0.532																																							uc003nfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1171-1173)AGC>TGC		solute carrier family 17 (sodium phosphate),							171.0	140.0	151.0					6																	25777090		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25777090A>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1171A>T	6.37:g.25777090A>T	ENSP00000367137:p.Ser391Cys					SLC17A4_uc011djx.1_Missense_Mutation_p.S161C|SLC17A4_uc003nff.1_Missense_Mutation_p.S180C|SLC17A4_uc003nfg.2_Missense_Mutation_p.S328C|SLC17A4_uc010jqa.2_Intron	p.S391C	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			10	1290	+			391					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1171A>T	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341352	0.81911	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.73152	-0.01;0.14;-0.72	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	D	0.83348	0.5235	M	0.89601	3.045	0.39578	D	0.969385	D;D;D	0.89917	0.998;1.0;0.991	D;D;D	0.77557	0.947;0.99;0.926	D	0.87064	0.2155	9	0.72032	D	0.01	.	12.5188	0.56048	1.0:0.0:0.0:0.0	.	161;189;391	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	C	391;161;189	ENSP00000367137:S391C;ENSP00000391345:S161C;ENSP00000380266:S189C	ENSP00000367137:S391C	S	+	1	0	SLC17A4	25885069	0.980000	0.34600	0.993000	0.49108	0.995000	0.86356	2.297000	0.43593	2.276000	0.75962	0.528000	0.53228	AGC		0.532	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			7	81	0	0	0	0.00308	0	7	81				
PRSS16	10279	broad.mit.edu	37	6	27216634	27216634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:27216634G>A	ENST00000230582.3	+	3	261	c.246G>A	c.(244-246)tgG>tgA	p.W82*	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	82					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.W82*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCGTTACTGGGTGAATGACC	0.517																																					NSCLC(178;1118 2105 17078 23587 44429)	NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(244-246)TGG>TGA		protease, serine, 16 precursor							106.0	89.0	95.0					6																	27216634		2203	4300	6503	SO:0001587	stop_gained	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216634G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.246G>A	6.37:g.27216634G>A	ENSP00000230582:p.Trp82*					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_5'Flank	p.W82*	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			3	258	+			82					O75416	Nonsense_Mutation	SNP	ENST00000230582.3	37	c.246G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.305771	0.81247	.	.	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	.	.	.	4.14	4.14	0.48551	.	0.444046	0.27130	N	0.020784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.5714	12.0976	0.53763	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000230582:W82X	W	+	3	0	PRSS16	27324613	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.424000	0.52764	2.309000	0.77851	0.557000	0.71058	TGG		0.517	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			16	8	0	0	0	0.007413	0	16	8				
OR2B6	26212	broad.mit.edu	37	6	27925077	27925077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:27925077G>T	ENST00000244623.1	+	1	59	c.59G>T	c.(58-60)cGa>cTa	p.R20L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCTCAGATCGACCTTGGCTG	0.418																																							uc011dkx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(58-60)CGA>CTA		olfactory receptor, family 2, subfamily B,							176.0	170.0	172.0					6																	27925077		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925077G>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.59G>T	6.37:g.27925077G>T	ENSP00000244623:p.Arg20Leu						p.R20L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	59	+			20			Extracellular (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.59G>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	7.698	0.692483	0.15039	.	.	ENSG00000124657	ENST00000244623	T	0.01076	5.37	3.93	-2.9	0.05648	.	0.689868	0.11009	U	0.609690	T	0.00356	0.0011	N	0.20328	0.56	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36817	-0.9732	10	0.59425	D	0.04	.	10.5492	0.45079	0.5897:0.0:0.4103:0.0	.	20	P58173	OR2B6_HUMAN	L	20	ENSP00000244623:R20L	ENSP00000244623:R20L	R	+	2	0	OR2B6	28033056	0.000000	0.05858	0.646000	0.29493	0.388000	0.30384	-3.237000	0.00545	-0.902000	0.03886	-0.251000	0.11542	CGA		0.418	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			43	46	1	0	8.04919e-23	0.01441	1.17572e-22	43	46				
TRIM10	10107	broad.mit.edu	37	6	30121975	30121975	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:30121975C>T	ENST00000449742.2	-	7	1292	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	406	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R2K(1)|p.R406K(1)		ovary(1)	1						CCAAGCCAGCCTCACAGCCCA	0.682																																							uc003npo.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1216-1218)AGG>AAG		tripartite motif-containing 10 isoform 1							47.0	34.0	39.0					6																	30121975		1510	2709	4219	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30121975C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1217G>A	6.37:g.30121975C>T	ENSP00000397073:p.Arg406Lys					TRIM10_uc003npn.2_Intron	p.R406K	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1293	-			406			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1217G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003174	0.35320	.	.	ENSG00000204613	ENST00000449742;ENST00000376706;ENST00000542439	T	0.69685	-0.42	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000007	T	0.59865	0.2225	L	0.53671	1.685	0.80722	D	1	D	0.58620	0.983	P	0.57425	0.82	T	0.60551	-0.7241	10	0.05833	T	0.94	.	14.7395	0.69442	0.0:1.0:0.0:0.0	.	406	Q9UDY6	TRI10_HUMAN	K	406;406;2	ENSP00000397073:R406K	ENSP00000365896:R406K	R	-	2	0	TRIM10	30229954	0.001000	0.12720	1.000000	0.80357	0.977000	0.68977	0.438000	0.21559	2.845000	0.97973	0.643000	0.83706	AGG		0.682	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			9	5	0	0	0	0.004482	0	9	5				
PRRC2A	7916	broad.mit.edu	37	6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T	rs373808174		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R2024W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGCTGTGCGGCCCCCACC	0.672																																							uc003nvb.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(6070-6072)CGG>TGG		HLA-B associated transcript-2		C	TRP/ARG,TRP/ARG	0,3014		0,0,1507	78.0	103.0	94.0		6070,6070	5.5	1.0	6		94	1,5415		0,1,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	101,101	0,1,4214	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging,probably-damaging	2024/2158,2024/2158	31604645	1,8429	1507	2708	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604645C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6070C>T	6.37:g.31604645C>T	ENSP00000365201:p.Arg2024Trp					BAT2_uc003nvc.3_Missense_Mutation_p.R2024W	p.R2024W	NM_080686	NP_542417	P48634	PRC2A_HUMAN			28	6319	+			2024			3-2.|3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6070C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610312	0.28712	0.0	1.85E-4	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.48	5.48	0.80851	.	0.127126	0.36519	N	0.002556	T	0.02610	0.0079	N	0.19112	0.55	0.36539	D	0.87119	D	0.76494	0.999	D	0.64877	0.93	T	0.54906	-0.8223	10	0.87932	D	0	-3.4827	11.736	0.51765	0.1756:0.8244:0.0:0.0	.	2024	P48634	PRC2A_HUMAN	W	2016;2005;2024;2024;1249	ENSP00000365175:R2024W;ENSP00000365201:R2024W	ENSP00000365175:R2024W	R	+	1	2	PRRC2A	31712624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.801000	0.27055	2.852000	0.98041	0.643000	0.83706	CGG		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		6	146	0	0	0	0.001984	0	6	146				
TAP2	6891	broad.mit.edu	37	6	32797239	32797239	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:32797239C>T	ENST00000452392.2	-	11	2043	c.1870G>A	c.(1870-1872)Gac>Aac	p.D624N	TAP2_ENST00000374897.2_Missense_Mutation_p.D624N|TAP2_ENST00000374899.4_Missense_Mutation_p.D624N|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.D624N(2)								Vitamin E(DB00163)	ACCCGCGGGTCTCGTACAAGG	0.607																																							uc003occ.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1870-1872)GAC>AAC		transporter 2, ATP-binding cassette, sub-family							56.0	57.0	57.0					6																	32797239		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797239C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1870G>A	6.37:g.32797239C>T	ENSP00000391806:p.Asp624Asn					TAP2_uc011dqf.1_Missense_Mutation_p.D624N|TAP2_uc003ocb.1_Missense_Mutation_p.D624N|TAP2_uc003ocd.2_Missense_Mutation_p.D624N	p.D624N	NM_018833	NP_061313	Q03519	TAP2_HUMAN			10	1901	-			624			ABC transporter.|Cytoplasmic (Potential).		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1870G>A		.	.	.	.	.	.	.	.	.	.	C	6.166	0.398879	0.11696	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.90563	-2.69;-2.69;-2.69	5.47	-0.0689	0.13754	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.819220	0.10487	N	0.668851	T	0.51534	0.1680	N	0.04636	-0.2	0.23010	N	0.998437	B;B;B;B	0.23442	0.085;0.004;0.004;0.004	B;B;B;B	0.26094	0.066;0.007;0.015;0.015	T	0.40701	-0.9549	9	0.02654	T	1	-11.6868	4.4508	0.11619	0.0:0.3402:0.1719:0.4879	.	624;625;624;624	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	N	624	ENSP00000364034:D624N;ENSP00000364032:D624N;ENSP00000391806:D624N	ENSP00000364032:D624N	D	-	1	0	XXbac-BPG246D15.9;TAP2	32905217	0.000000	0.05858	0.998000	0.56505	0.288000	0.27193	-2.411000	0.01040	0.271000	0.22005	-0.207000	0.12724	GAC		0.607	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		9	20	0	0	0	0.006214	0	9	20				
TREML1	340205	broad.mit.edu	37	6	41121752	41121752	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:41121752G>A	ENST00000426005.2	-	2	163	c.120C>T	c.(118-120)taC>taT	p.Y40Y	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Silent_p.Y40Y	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	40	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.Y40Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGGAGCCTGTAGTGGCACT	0.627																																							uc011duc.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(118-120)TAC>TAT		triggering receptor expressed on myeloid							36.0	38.0	38.0					6																	41121752		2203	4300	6503	SO:0001819	synonymous_variant	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121752G>A	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.120C>T	6.37:g.41121752G>A						TREML1_uc003opx.2_Silent_p.Y40Y|TREML1_uc011dud.1_Intron	p.Y40Y	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			2	164	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		40			Ig-like V-type.|Extracellular (Potential).		Q496B3|Q8IWY1|Q8IWY2	Silent	SNP	ENST00000426005.2	37	c.120C>T	CCDS4851.1																																																																																				0.627	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		25	24	0	0	0	0.00333	0	25	24				
ZNF318	24149	broad.mit.edu	37	6	43304967	43304967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:43304967G>C	ENST00000361428.2	-	10	6846	c.6769C>G	c.(6769-6771)Cag>Gag	p.Q2257E	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2257					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q2257E(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGCATTCCCTGAGGGACCATA	0.473																																							uc003oux.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6769-6771)CAG>GAG		zinc finger protein 318							115.0	103.0	107.0					6																	43304967		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43304967G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6769C>G	6.37:g.43304967G>C	ENSP00000354964:p.Gln2257Glu					ZNF318_uc003ouw.2_Intron	p.Q2257E	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6847	-			2257					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6769C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410138	0.11812	.	.	ENSG00000171467	ENST00000361428	T	0.12569	2.67	5.93	1.78	0.24846	.	0.930763	0.09055	N	0.855255	T	0.02193	0.0068	L	0.29908	0.895	0.28138	N	0.929905	P	0.36837	0.571	B	0.30855	0.121	T	0.43065	-0.9414	10	0.22706	T	0.39	0.4915	2.3313	0.04236	0.2028:0.2298:0.4363:0.1311	.	2257	Q5VUA4	ZN318_HUMAN	E	2257	ENSP00000354964:Q2257E	ENSP00000354964:Q2257E	Q	-	1	0	ZNF318	43412945	1.000000	0.71417	0.130000	0.21974	0.497000	0.33675	1.399000	0.34566	0.828000	0.34709	-0.176000	0.13171	CAG		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		14	34	0	0	0	0.003163	0	14	34				
GPR116	221395	broad.mit.edu	37	6	46849193	46849193	+	Splice_Site	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:46849193G>A	ENST00000283296.7	-	8	1101	c.813C>T	c.(811-813)atC>atT	p.I271I	GPR116_ENST00000456426.2_Splice_Site_p.I271I|GPR116_ENST00000362015.4_Splice_Site_p.I271I|GPR116_ENST00000265417.7_Splice_Site_p.I271I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	271	Ig-like 1.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I271I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCACTTACTGATAGTAACTG	0.368																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(811-813)ATC>ATT		G-protein coupled receptor 116 precursor							306.0	248.0	267.0					6																	46849193		2203	4300	6503	SO:0001630	splice_region_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46849193G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.814+1C>T	6.37:g.46849193G>A						GPR116_uc003oyp.3_Silent_p.I271I|GPR116_uc003oyq.3_Silent_p.I271I|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.I271I	p.I271I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		8	1102	-			271			Ig-like 1.|SEA.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.813C>T	CCDS4919.1																																																																																				0.368	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	Silent	14	71	0	0	0	0.00245	0	14	71				
ICK	22858	broad.mit.edu	37	6	52878687	52878687	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:52878687C>T	ENST00000350082.5	-	9	1271	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	ICK_ENST00000356971.3_Missense_Mutation_p.E309K	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	309					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E309K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTGCCTTTTCCAGGATGCCT	0.512																																							uc003pbh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(925-927)GAA>AAA		intestinal cell kinase							141.0	116.0	125.0					6																	52878687		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52878687C>T	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.925G>A	6.37:g.52878687C>T	ENSP00000263043:p.Glu309Lys					ICK_uc003pbi.2_Missense_Mutation_p.E309K	p.E309K	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			10	1415	-	Lung NSC(77;0.103)		309					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.925G>A	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188409	0.38609	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71934	-0.61;-0.61	6.06	5.19	0.71726	Protein kinase-like domain (1);	0.468781	0.21883	N	0.067709	T	0.30978	0.0782	N	0.08118	0	0.28101	N	0.931398	B	0.06786	0.001	B	0.04013	0.001	T	0.02758	-1.1114	10	0.20519	T	0.43	-0.3111	12.9562	0.58430	0.0:0.8734:0.0:0.1266	.	309	Q9UPZ9	ICK_HUMAN	K	309	ENSP00000263043:E309K;ENSP00000349458:E309K	ENSP00000263043:E309K	E	-	1	0	ICK	52986646	0.874000	0.30092	0.997000	0.53966	0.878000	0.50629	1.209000	0.32357	2.882000	0.98803	0.655000	0.94253	GAA		0.512	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		4	28	0	0	0	0.000602	0	4	28				
ZNF451	26036	broad.mit.edu	37	6	57011930	57011930	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:57011930G>C	ENST00000370706.4	+	10	1291	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N	RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K349N|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K349N|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	349					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.K349N(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAGCTGAGAAGAGCATTACCC	0.353																																							uc003pdm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1045-1047)AAG>AAC		zinc finger protein 451 isoform 1							68.0	67.0	68.0					6																	57011930		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57011930G>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1047G>C	6.37:g.57011930G>C	ENSP00000359740:p.Lys349Asn					ZNF451_uc003pdl.2_Missense_Mutation_p.K349N|ZNF451_uc003pdn.1_Missense_Mutation_p.K349N|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.K349N	p.K349N	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1271	+	Lung NSC(77;0.145)		349					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1047G>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800550	0.50315	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.08984	3.03;3.03;3.03	5.61	2.44	0.29823	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;D;D;D	0.73708	0.959;0.942;0.981;0.942	T	0.00867	-1.1534	10	0.54805	T	0.06	-18.2648	9.3849	0.38336	0.554:0.0:0.446:0.0	.	349;349;349;349	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	N	349	ENSP00000359740:K349N;ENSP00000350083:K349N;ENSP00000421645:K349N	ENSP00000350083:K349N	K	+	3	2	ZNF451	57119889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.155000	0.31700	0.140000	0.18849	0.655000	0.94253	AAG		0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		11	40	0	0	0	0.008291	0	11	40				
KHDRBS2	202559	broad.mit.edu	37	6	62757846	62757846	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:62757846T>A	ENST00000281156.4	-	3	551	c.273A>T	c.(271-273)ctA>ctT	p.L91L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	91	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.L91L(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTTCTTCCTGTAGCCTCTTCA	0.368																																							uc003peg.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(271-273)CTA>CTT		KH domain-containing, RNA-binding, signal							165.0	155.0	158.0					6																	62757846		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62757846T>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.273A>T	6.37:g.62757846T>A							p.L91L	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	3	520	-			91			KH.		A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.273A>T	CCDS4963.1																																																																																				0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	71	0	0	0	0.008291	0	10	71				
EYS	346007	broad.mit.edu	37	6	66115113	66115113	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:66115113G>A	ENST00000370621.3	-	6	1536	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	EYS_ENST00000342421.5_Missense_Mutation_p.S337L|EYS_ENST00000503581.1_Missense_Mutation_p.S337L|EYS_ENST00000370616.2_Missense_Mutation_p.S337L|EYS_ENST00000393380.2_Missense_Mutation_p.S337L|EYS_ENST00000370618.3_Missense_Mutation_p.S337L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	337	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S337L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGTACTAATGAAAACTCACT	0.338																																							uc011dxu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1009-1011)TCA>TTA		eyes shut homolog isoform 1							116.0	116.0	116.0					6																	66115113		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115113G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1010C>T	6.37:g.66115113G>A	ENSP00000359655:p.Ser337Leu					EYS_uc003peq.2_Missense_Mutation_p.S337L|EYS_uc003per.1_Missense_Mutation_p.S337L	p.S337L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			6	1548	-			337			EGF-like 4.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1010C>T		.	.	.	.	.	.	.	.	.	.	G	12.99	2.104404	0.37145	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;T;T;T	0.85411	-1.98;-1.98;-1.98;1.65;1.65;1.65	4.66	1.3	0.21679	.	.	.	.	.	T	0.60196	0.2250	L	0.39147	1.195	0.09310	N	1	B;B;B	0.30146	0.046;0.27;0.176	B;B;B	0.31812	0.028;0.136;0.064	T	0.49457	-0.8938	9	0.21014	T	0.42	.	6.624	0.22818	0.1948:0.1529:0.6522:0.0	.	337;337;337	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	337	ENSP00000424243:S337L;ENSP00000359655:S337L;ENSP00000359650:S337L;ENSP00000377042:S337L;ENSP00000341818:S337L;ENSP00000359652:S337L	ENSP00000341818:S337L	S	-	2	0	EYS	66171834	0.015000	0.18098	0.000000	0.03702	0.011000	0.07611	0.687000	0.25407	0.392000	0.25172	0.467000	0.42956	TCA		0.338	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		24	68	0	0	0	0.014323	0	24	68				
COL12A1	1303	broad.mit.edu	37	6	75799844	75799844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:75799844C>A	ENST00000322507.8	-	63	9232	c.8923G>T	c.(8923-8925)Gga>Tga	p.G2975*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.G1811*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.G2899*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.G2971*|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2975	Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2975*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGGGGGTCCCTGCATCCCT	0.612																																							uc003phs.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8923-8925)GGA>TGA		collagen, type XII, alpha 1 long isoform							82.0	92.0	89.0					6																	75799844		1864	4087	5951	SO:0001587	stop_gained	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75799844C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8923G>T	6.37:g.75799844C>A	ENSP00000325146:p.Gly2975*					COL12A1_uc003pht.2_Nonsense_Mutation_p.G1811*	p.G2975*	NM_004370	NP_004361	Q99715	COCA1_HUMAN			63	9089	-			2975			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	c.8923G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	50	16.257997	0.99858	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.48	4.62	0.57501	.	0.054977	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0081	0.64478	0.0:0.9275:0.0:0.0725	.	.	.	.	X	2975;613;2899;1811;2899;2971	.	ENSP00000325146:G2975X	G	-	1	0	COL12A1	75856564	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.487000	0.81328	1.311000	0.45024	0.655000	0.94253	GGA		0.612	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		42	130	1	0	1.76056e-25	0.011902	2.61568e-25	42	130				
ZNF292	23036	broad.mit.edu	37	6	87964599	87964599	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:87964599G>A	ENST00000369577.3	+	8	1295	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	ZNF292_ENST00000339907.4_Missense_Mutation_p.D413N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	418						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)	p.D418N(1)|p.D273N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAGAAATATGATGAAGAGAA	0.378																																							uc003plm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1252-1254)GAT>AAT		zinc finger protein 292							88.0	82.0	84.0					6																	87964599		1866	4105	5971	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964599G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1252G>A	6.37:g.87964599G>A	ENSP00000358590:p.Asp418Asn						p.D418N	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1293	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	418					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1252G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356427	0.82243	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.44482	0.92;0.92	6.06	6.06	0.98353	.	0.045132	0.85682	D	0.000000	T	0.53546	0.1803	L	0.43152	1.355	0.54753	D	0.999989	D	0.89917	1.0	D	0.74023	0.982	T	0.52902	-0.8513	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	418	O60281	ZN292_HUMAN	N	418;413	ENSP00000358590:D418N;ENSP00000342847:D413N	ENSP00000342847:D413N	D	+	1	0	ZNF292	88021318	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.880000	0.98712	0.650000	0.86243	GAT		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	18	0	0	0	0.001984	0	7	18				
PM20D2	135293	broad.mit.edu	37	6	89862832	89862832	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:89862832G>C	ENST00000275072.4	+	3	780	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	229						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.D229H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AAATGCATTAGATGCTGCTGT	0.363																																							uc003pmz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(685-687)GAT>CAT		aminoacylase 1-like 2							110.0	97.0	102.0					6																	89862832		2203	4300	6503	SO:0001583	missense	135293						hydrolase activity	g.chr6:89862832G>C	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.685G>C	6.37:g.89862832G>C	ENSP00000275072:p.Asp229His						p.D229H	NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00813)	3	780	+		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	229					B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	c.685G>C	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456721	0.63401	.	.	ENSG00000146281	ENST00000275072	T	0.56103	0.48	5.69	5.69	0.88448	Peptidase M20, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82820	-0.0268	10	0.87932	D	0	-24.4452	19.8165	0.96571	0.0:0.0:1.0:0.0	.	229	Q8IYS1	P20D2_HUMAN	H	229	ENSP00000275072:D229H	ENSP00000275072:D229H	D	+	1	0	PM20D2	89919551	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	8.916000	0.92745	2.683000	0.91414	0.655000	0.94253	GAT		0.363	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		36	17	0	0	0	0.004289	0	36	17				
CASP8AP2	9994	broad.mit.edu	37	6	90573971	90573971	+	RNA	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:90573971A>G	ENST00000551025.1	+	0	3980									caspase 8 associated protein 2									p.N848S(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATTGACCTTAATCACCTGAGA	0.428																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2542-2544)AAT>AGT		caspase 8 associated protein 2							65.0	63.0	63.0					6																	90573971		1883	4122	6005			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573971A>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573971A>G						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.N848S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.N848S	p.N848S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	2739	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	848						Missense_Mutation	SNP	ENST00000551025.1	37	c.2543A>G																																																																																					0.428	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		13	11	0	0	0	0.001855	0	13	11				
GRIK2	2898	broad.mit.edu	37	6	102266270	102266270	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:102266270G>T	ENST00000421544.1	+	9	1719	c.1229G>T	c.(1228-1230)gGc>gTc	p.G410V	GRIK2_ENST00000413795.1_Missense_Mutation_p.G410V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G410V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G410V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G361V|GRIK2_ENST00000369138.1_Missense_Mutation_p.G410V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	410					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G410V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCAGCCAGTGGCCTGAATATG	0.398																																							uc003pqp.3		NA																	2	Substitution - Missense(2)	p.G410G(1)	lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1228-1230)GGC>GTC		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						172.0	153.0	160.0					6																	102266270		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266270G>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1229G>T	6.37:g.102266270G>T	ENSP00000397026:p.Gly410Val					GRIK2_uc003pqn.2_Missense_Mutation_p.G410V|GRIK2_uc003pqo.3_Missense_Mutation_p.G410V|GRIK2_uc010kcw.2_Missense_Mutation_p.G410V	p.G410V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1478	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	410			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1229G>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432382	0.83776	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;3.18	5.81	5.81	0.92471	.	0.102433	0.64402	D	0.000002	T	0.64238	0.2580	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.73404	-0.3993	10	0.87932	D	0	.	20.064	0.97700	0.0:0.0:1.0:0.0	.	410;410;410	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	410;410;410;410;410;410;361;372;123;9	ENSP00000397026:G410V;ENSP00000405596:G410V;ENSP00000358134:G410V;ENSP00000358133:G410V;ENSP00000313276:G410V;ENSP00000358130:G361V;ENSP00000391988:G123V;ENSP00000407140:G9V	ENSP00000313276:G410V	G	+	2	0	GRIK2	102372963	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.753000	0.94483	0.643000	0.83706	GGC		0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	9	1	0	2.80697e-09	0.010729	3.36319e-09	7	9				
LIN28B	389421	broad.mit.edu	37	6	105526436	105526436	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:105526436G>T	ENST00000345080.4	+	4	734	c.531G>T	c.(529-531)caG>caT	p.Q177H		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	177					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q177H(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGAGTTCTCAGGGAAGACAGG	0.537																																							uc003pqv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CAG>CAT		lin-28 homolog B							93.0	84.0	87.0					6																	105526436		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105526436G>T	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.531G>T	6.37:g.105526436G>T	ENSP00000344401:p.Gln177His					LIN28B_uc010kda.1_3'UTR	p.Q177H	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			4	734	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	177					A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.531G>T	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062458	0.76187	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	6.02	0.97574	.	0.181864	0.49916	D	0.000131	T	0.71384	0.3333	L	0.55990	1.75	0.58432	D	0.999996	D	0.69078	0.997	D	0.64042	0.921	T	0.70099	-0.4965	9	0.56958	D	0.05	-14.7611	20.5407	0.99260	0.0:0.0:1.0:0.0	.	177	Q6ZN17	LN28B_HUMAN	H	177	.	ENSP00000344401:Q177H	Q	+	3	2	LIN28B	105633129	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.489000	0.81451	2.865000	0.98341	0.655000	0.94253	CAG		0.537	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		14	13	1	0	2.23348e-06	0.004007	2.48696e-06	14	13				
WASF1	8936	broad.mit.edu	37	6	110424697	110424697	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:110424697C>A	ENST00000392589.1	-	9	1613	c.777G>T	c.(775-777)caG>caT	p.Q259H	WASF1_ENST00000392588.1_Missense_Mutation_p.Q259H|WASF1_ENST00000392586.1_Missense_Mutation_p.Q259H|WASF1_ENST00000359451.2_Missense_Mutation_p.Q259H|WASF1_ENST00000392587.2_Missense_Mutation_p.Q259H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	259					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.Q259H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCTCACTCATCTGACTAAATG	0.428																																							uc003ptv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CAG>CAT		Wiskott-Aldrich syndrome protein family member							171.0	147.0	155.0					6																	110424697		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110424697C>A	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.777G>T	6.37:g.110424697C>A	ENSP00000376368:p.Gln259His					WASF1_uc003ptw.1_Missense_Mutation_p.Q259H|WASF1_uc003ptx.1_Missense_Mutation_p.Q259H|WASF1_uc003pty.1_Missense_Mutation_p.Q259H	p.Q259H	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	9	1614	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	259					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.777G>T	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415045	0.42817	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.51	3.74	0.42951	.	0.105434	0.64402	D	0.000003	T	0.40862	0.1134	L	0.27053	0.805	0.49687	D	0.999819	D	0.61697	0.99	D	0.70487	0.969	T	0.38090	-0.9677	10	0.45353	T	0.12	.	12.0399	0.53446	0.0:0.8608:0.0:0.1392	.	259	Q92558	WASF1_HUMAN	H	259	ENSP00000376365:Q259H;ENSP00000376366:Q259H;ENSP00000376368:Q259H;ENSP00000376367:Q259H;ENSP00000352425:Q259H	ENSP00000352425:Q259H	Q	-	3	2	WASF1	110531390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.607000	0.54102	0.826000	0.34661	0.650000	0.86243	CAG		0.428	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		31	15	1	0	1.56442e-22	0.012213	2.2787e-22	31	15				
RAET1G	353091	broad.mit.edu	37	6	150240366	150240366	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr6:150240366G>A	ENST00000367360.2	-	3	511	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RAET1G_ENST00000479265.1_Silent_p.F148F|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.F148F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CAAAGAGGAGGAAGATCTGTC	0.507																																							uc010kii.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)TTC>TTT		retinoic acid early transcript 1G precursor							212.0	195.0	201.0					6																	150240366		2203	4300	6503	SO:0001819	synonymous_variant	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240366G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.444C>T	6.37:g.150240366G>A						uc003qni.1_RNA|RAET1G_uc003qnm.2_RNA	p.F148F	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	512	-		Ovarian(120;0.0907)	148			Extracellular (Potential).|MHC class I alpha-2 like.			Silent	SNP	ENST00000367360.2	37	c.444C>T	CCDS43514.1																																																																																				0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	74	0	0	0	0.001168	0	5	74				
CYP2W1	54905	broad.mit.edu	37	7	1027006	1027006	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:1027006C>T	ENST00000308919.7	+	7	995	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R272C	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	328					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R328C(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGAGCTAGACCGCGTGCTGGG	0.721																																							uc003sjq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(982-984)CGC>TGC		cytochrome P450, family 2, subfamily W,							9.0	12.0	11.0					7																	1027006		2155	4247	6402	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1027006C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.982C>T	7.37:g.1027006C>T	ENSP00000310149:p.Arg328Cys					CYP2W1_uc003sjr.1_Missense_Mutation_p.R328C	p.R328C	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	7	995	+		Ovarian(82;0.0112)	328						Missense_Mutation	SNP	ENST00000308919.7	37	c.982C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890603	0.33348	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.70516	-0.49;-0.49;-0.49	4.88	3.04	0.35103	.	0.436137	0.27891	N	0.017425	T	0.79661	0.4484	M	0.79614	2.46	0.21652	N	0.999607	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.68273	-0.5452	10	0.59425	D	0.04	.	4.6943	0.12795	0.2575:0.544:0.121:0.0774	.	272;328	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	C	328;272;102	ENSP00000310149:R328C;ENSP00000344178:R272C;ENSP00000392581:R102C	ENSP00000310149:R328C	R	+	1	0	CYP2W1	993532	0.000000	0.05858	0.561000	0.28357	0.308000	0.27856	0.600000	0.24104	0.561000	0.29186	0.561000	0.74099	CGC		0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		7	6	0	0	0	0.00308	0	7	6				
FTSJ2	29960	broad.mit.edu	37	7	2279093	2279093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2279093C>T	ENST00000242257.8	-	2	286	c.258G>A	c.(256-258)tgG>tgA	p.W86*	NUDT1_ENST00000397048.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000407040.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000440306.2_Nonsense_Mutation_p.W86*|NUDT1_ENST00000397046.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)									p.W86*(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCACCTGACTCCAGGCCCCAG	0.657																																							uc003slm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(256-258)TGG>TGA		FtsJ homolog 2							29.0	29.0	29.0					7																	2279093		2203	4300	6503	SO:0001587	stop_gained	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2279093C>T	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.258G>A	7.37:g.2279093C>T	ENSP00000242257:p.Trp86*					FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	p.W86*	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	2	287	-		Ovarian(82;0.0253)	86			S-adenosyl-L-methionine binding.			Nonsense_Mutation	SNP	ENST00000242257.8	37	c.258G>A	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851165	0.97885	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	7.2253	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000242257:W86X	W	-	3	0	FTSJ2	2245619	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.320000	0.79064	2.854000	0.98071	0.655000	0.94253	TGG		0.657	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393		10	17	0	0	0	0.008291	0	10	17				
CARD11	84433	broad.mit.edu	37	7	2949749	2949749	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2949749G>C	ENST00000396946.4	-	24	3598	c.3195C>G	c.(3193-3195)atC>atG	p.I1065M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1065	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I1058M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTTGGACTTGATCAAGTCTC	0.602			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(3193-3195)ATC>ATG		caspase recruitment domain family, member 11							179.0	152.0	161.0					7																	2949749		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2949749G>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3195C>G	7.37:g.2949749G>C	ENSP00000380150:p.Ile1065Met						p.I1065M	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	24	3599	-		Ovarian(82;0.0115)	1065			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.3195C>G	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338275	0.60963	.	.	ENSG00000198286	ENST00000396946	T	0.17370	2.28	4.6	4.6	0.57074	.	0.101213	0.43919	D	0.000512	T	0.18759	0.0450	L	0.36672	1.1	0.39465	D	0.96762	P	0.49862	0.929	P	0.46110	0.504	T	0.03112	-1.1071	10	0.33940	T	0.23	-33.3823	15.638	0.76970	0.0:0.0:1.0:0.0	.	1065	Q9BXL7	CAR11_HUMAN	M	1065	ENSP00000380150:I1065M	ENSP00000380150:I1065M	I	-	3	3	CARD11	2916275	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.932000	0.56537	2.126000	0.65437	0.650000	0.86243	ATC		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		46	67	0	0	0	0.01441	0	46	67				
CARD11	84433	broad.mit.edu	37	7	2984041	2984041	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:2984041C>G	ENST00000396946.4	-	5	892	c.489G>C	c.(487-489)aaG>aaC	p.K163N	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	163					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.K156N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCATCTGCTTCTTCTCATCCT	0.577			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(487-489)AAG>AAC		caspase recruitment domain family, member 11							132.0	101.0	112.0					7																	2984041		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984041C>G	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.489G>C	7.37:g.2984041C>G	ENSP00000380150:p.Lys163Asn						p.K163N	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	893	-		Ovarian(82;0.0115)	163			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.489G>C	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270121	0.40194	.	.	ENSG00000198286	ENST00000396946	T	0.35048	1.33	4.38	2.57	0.30868	.	0.262772	0.37857	N	0.001916	T	0.19644	0.0472	N	0.22421	0.69	0.36194	D	0.850263	B	0.33549	0.417	B	0.28709	0.093	T	0.15521	-1.0434	10	0.30854	T	0.27	-31.9493	7.7185	0.28719	0.0:0.7079:0.0:0.2921	.	163	Q9BXL7	CAR11_HUMAN	N	163	ENSP00000380150:K163N	ENSP00000380150:K163N	K	-	3	2	CARD11	2950567	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.720000	0.25896	0.426000	0.26116	-0.122000	0.15005	AAG		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		9	117	0	0	0	0.008291	0	9	117				
THSD7A	221981	broad.mit.edu	37	7	11415466	11415466	+	Silent	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:11415466T>A	ENST00000423059.4	-	28	5180	c.4929A>T	c.(4927-4929)cgA>cgT	p.R1643R	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1643					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1643R(1)		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)		AAGGTTTCAGTCGGTTGTTTT	0.373										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(4927-4929)CGA>CGT		thrombospondin, type I, domain containing 7A							171.0	172.0	172.0					7																	11415466		1830	4081	5911	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11415466T>A		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.4929A>T	7.37:g.11415466T>A		HNSCC(18;0.044)				uc003ssb.2_Intron|THSD7A_uc003ssd.3_Silent_p.R147R	p.R1643R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	27	5181	-			1643			Cytoplasmic (Potential).			Silent	SNP	ENST00000423059.4	37	c.4929A>T	CCDS47543.1																																																																																				0.373	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		40	65	0	0	0	0.00874	0	40	65				
THSD7A	221981	broad.mit.edu	37	7	11676463	11676463	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:11676463T>A	ENST00000423059.4	-	2	567	c.316A>T	c.(316-318)Aat>Tat	p.N106Y	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	106	TSP type-1 1. {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.N106Y(1)		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)		TGCTGGTTATTGGGTCTCTCG	0.498										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(316-318)AAT>TAT		thrombospondin, type I, domain containing 7A							72.0	73.0	72.0					7																	11676463		2009	4165	6174	SO:0001583	missense	221981					integral to membrane		g.chr7:11676463T>A		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.316A>T	7.37:g.11676463T>A	ENSP00000406482:p.Asn106Tyr	HNSCC(18;0.044)					p.N106Y	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	568	-			106			TSP type-1 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.316A>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104716	0.37145	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.92	3.53	0.40419	.	0.512628	0.20514	U	0.090840	T	0.42337	0.1198	L	0.29908	0.895	0.09310	N	1	B	0.23128	0.08	B	0.32149	0.141	T	0.37126	-0.9719	10	0.54805	T	0.06	.	2.261	0.04067	0.0:0.2503:0.3068:0.4429	.	106	Q9UPZ6	THS7A_HUMAN	Y	106	ENSP00000406482:N106Y	ENSP00000262042:N106Y	N	-	1	0	THSD7A	11642988	0.001000	0.12720	0.600000	0.28864	0.845000	0.48019	0.938000	0.28965	1.021000	0.39600	0.528000	0.53228	AAT		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		21	49	0	0	0	0.008871	0	21	49				
TWISTNB	221830	broad.mit.edu	37	7	19738102	19738102	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:19738102T>C	ENST00000222567.5	-	4	924	c.854A>G	c.(853-855)cAg>cGg	p.Q285R		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	285	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.Q285R(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGAACTTCCTGGTGCTTTTT	0.433																																							uc003sup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)CAG>CGG		TWIST neighbor							224.0	248.0	240.0					7																	19738102		2203	4299	6502	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738102T>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.854A>G	7.37:g.19738102T>C	ENSP00000222567:p.Gln285Arg						p.Q285R	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			4	875	-			285			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.854A>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	T	7.781	0.709506	0.15239	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.63	1.61	0.23674	.	1.220510	0.05234	N	0.510877	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20638	-1.0269	9	0.12766	T	0.61	-3.7987	5.9695	0.19344	0.1179:0.2222:0.0:0.6599	.	285	Q3B726	RPA43_HUMAN	R	285	.	ENSP00000222567:Q285R	Q	-	2	0	TWISTNB	19704627	0.681000	0.27614	0.749000	0.31150	0.894000	0.52154	1.028000	0.30128	0.438000	0.26450	0.397000	0.26171	CAG		0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			142	318	0	0	0	0.01441	0	142	318				
BMPER	168667	broad.mit.edu	37	7	34118549	34118549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:34118549C>A	ENST00000297161.2	+	13	1533	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	BMPER_ENST00000426693.1_Missense_Mutation_p.Q387K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	387	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Q387K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGGACGTGTCAGTACGTTTT	0.572																																							uc011kap.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1159-1161)CAG>AAG		BMP-binding endothelial regulator precursor							105.0	112.0	109.0					7																	34118549		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118549C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1159C>A	7.37:g.34118549C>A	ENSP00000297161:p.Gln387Lys						p.Q387K	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1273	+			387			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1159C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018132	0.19355	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59364	0.27;0.27	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.048103	0.85682	D	0.000000	T	0.38081	0.1027	N	0.04994	-0.135	0.58432	D	0.999997	B	0.21520	0.057	B	0.20577	0.03	T	0.32955	-0.9887	10	0.09338	T	0.73	.	20.2079	0.98282	0.0:1.0:0.0:0.0	.	387	Q8N8U9	BMPER_HUMAN	K	387	ENSP00000297161:Q387K;ENSP00000393950:Q387K	ENSP00000297161:Q387K	Q	+	1	0	BMPER	34085074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	2.781000	0.95711	0.655000	0.94253	CAG		0.572	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		56	88	1	0	2.5401e-28	0.01441	3.83968e-28	56	88				
AOAH	313	broad.mit.edu	37	7	36561669	36561669	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:36561669G>T	ENST00000258749.5	-	20	1974	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	AOAH_ENST00000431169.1_Silent_p.P525P|AOAH_ENST00000535891.1_Silent_p.P493P|AOAH_ENST00000538464.1_Silent_p.P247P	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	525					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.P525P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATCCATCCACGGGCTCGATGA	0.507																																							uc003tfh.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1573-1575)CCC>CCA		acyloxyacyl hydrolase precursor							98.0	83.0	88.0					7																	36561669		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36561669G>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1575C>A	7.37:g.36561669G>T						AOAH_uc010kxf.2_Silent_p.P525P|AOAH_uc011kba.1_Silent_p.P493P	p.P525P	NM_001637	NP_001628	P28039	AOAH_HUMAN			20	1976	-			525					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1575C>A	CCDS5448.1																																																																																				0.507	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		15	35	1	0	8.10497e-08	0.010504	9.36575e-08	15	35				
HECW1	23072	broad.mit.edu	37	7	43484721	43484721	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:43484721G>T	ENST00000395891.2	+	11	2555	c.1950G>T	c.(1948-1950)acG>acT	p.T650T	HECW1_ENST00000453890.1_Silent_p.T650T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	650					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T629T(1)|p.T650T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGGCGACACGCACCCCAGCA	0.716																																							uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1948-1950)ACG>ACT		NEDD4-like ubiquitin-protein ligase 1							16.0	21.0	19.0					7																	43484721		2135	4220	6355	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484721G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1950G>T	7.37:g.43484721G>T						HECW1_uc011kbi.1_Silent_p.T650T	p.T650T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2555	+			650					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1950G>T	CCDS5469.2																																																																																				0.716	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		13	23	1	0	0.000308642	0.003163	0.000326871	13	23				
GRB10	2887	broad.mit.edu	37	7	50673020	50673020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:50673020C>A	ENST00000401949.1	-	15	1825	c.1356G>T	c.(1354-1356)caG>caT	p.Q452H	GRB10_ENST00000398810.2_Missense_Mutation_p.Q394H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q446H|GRB10_ENST00000402497.1_Missense_Mutation_p.Q394H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q394H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q394H|GRB10_ENST00000403097.1_Missense_Mutation_p.Q446H|GRB10_ENST00000357271.5_Missense_Mutation_p.Q406H|GRB10_ENST00000407526.1_Missense_Mutation_p.Q394H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q394H|GRB10_ENST00000398812.2_Missense_Mutation_p.Q452H			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	452					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.Q446H(1)|p.Q452H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGGCTGCGCTCTGGGCCTCTG	0.642									Russell-Silver syndrome																														uc003tpi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1354-1356)CAG>CAT		growth factor receptor-bound protein 10 isoform							44.0	45.0	45.0					7																	50673020		1884	4104	5988	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50673020C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1356G>T	7.37:g.50673020C>A	ENSP00000385770:p.Gln452His					GRB10_uc003tph.3_Missense_Mutation_p.Q394H|GRB10_uc003tpj.2_Missense_Mutation_p.Q406H|GRB10_uc003tpk.2_Missense_Mutation_p.Q452H|GRB10_uc010kzb.2_Missense_Mutation_p.Q394H|GRB10_uc003tpl.2_Missense_Mutation_p.Q446H|GRB10_uc003tpm.2_Missense_Mutation_p.Q394H|GRB10_uc003tpn.2_Missense_Mutation_p.Q394H	p.Q452H	NM_005311	NP_005302	Q13322	GRB10_HUMAN			12	1387	-	Glioma(55;0.08)|all_neural(89;0.245)		452					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1356G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713325	0.48517	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;T;D;D;D	0.82803	-1.52;-1.52;-1.65;-1.65;-1.65;-1.52;-1.65;-1.46;-1.65;-1.52;-1.65	5.89	4.08	0.47627	BPS (Between PH and SH2) domain (1);	0.107991	0.64402	D	0.000003	T	0.78130	0.4235	L	0.51422	1.61	0.80722	D	1	B;B;B	0.26445	0.072;0.149;0.089	B;B;B	0.34652	0.187;0.187;0.14	T	0.70385	-0.4886	10	0.18710	T	0.47	-12.8736	9.5544	0.39330	0.0:0.7895:0.0:0.2105	.	446;406;452	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	H	452;446;394;394;394;446;394;406;394;452;394	ENSP00000381793:Q452H;ENSP00000406716:Q446H;ENSP00000338543:Q394H;ENSP00000381790:Q394H;ENSP00000385189:Q394H;ENSP00000385544:Q446H;ENSP00000385366:Q394H;ENSP00000349818:Q406H;ENSP00000385046:Q394H;ENSP00000385770:Q452H;ENSP00000385748:Q394H	ENSP00000338543:Q394H	Q	-	3	2	GRB10	50640514	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	2.569000	0.45973	1.474000	0.48178	0.655000	0.94253	CAG		0.642	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			21	26	1	0	7.45023e-12	0.010504	9.54216e-12	21	26				
POM121L12	285877	broad.mit.edu	37	7	53103542	53103542	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:53103542C>A	ENST00000408890.4	+	1	194	c.178C>A	c.(178-180)Cag>Aag	p.Q60K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	60								p.Q60K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGACTCAGAGCCATAT	0.701																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CAG>AAG		POM121 membrane glycoprotein-like 12							29.0	34.0	33.0					7																	53103542		1964	4153	6117	SO:0001583	missense	285877							g.chr7:53103542C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.178C>A	7.37:g.53103542C>A	ENSP00000386133:p.Gln60Lys						p.Q60K	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	194	+			60					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.178C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389872	0.11581	.	.	ENSG00000221900	ENST00000408890	T	0.22945	1.93	1.53	0.523	0.17060	.	.	.	.	.	T	0.13670	0.0331	L	0.32530	0.975	0.09310	N	1	B	0.31655	0.334	B	0.22386	0.039	T	0.27365	-1.0076	9	0.16896	T	0.51	.	5.398	0.16281	0.0:0.6382:0.3618:0.0	.	60	Q8N7R1	P1L12_HUMAN	K	60	ENSP00000386133:Q60K	ENSP00000386133:Q60K	Q	+	1	0	POM121L12	53071036	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.387000	0.20718	0.178000	0.19917	0.313000	0.20887	CAG		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		18	34	1	0	5.35267e-07	0.007413	6.02465e-07	18	34				
SEPT14	346288	broad.mit.edu	37	7	55863778	55863778	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:55863778T>A	ENST00000388975.3	-	10	1243	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	376					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.D165V(1)|p.D376V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGAACTTGTCCTGCAGCTG	0.378																																							uc003tqz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GAC>GTC		septin 14							22.0	26.0	24.0					7																	55863778		1138	2160	3298	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55863778T>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1127A>T	7.37:g.55863778T>A	ENSP00000373627:p.Asp376Val						p.D376V	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1244	-	Breast(14;0.214)		376			Potential.		A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.1127A>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156811	0.21454	.	.	ENSG00000154997	ENST00000388975	D	0.81996	-1.56	1.32	1.32	0.21799	.	1.487420	0.04755	N	0.425358	T	0.76765	0.4033	L	0.44542	1.39	0.45806	D	0.998685	B	0.12013	0.005	B	0.11329	0.006	T	0.64024	-0.6504	10	0.33141	T	0.24	.	6.7786	0.23634	0.0:0.0:0.0:1.0	.	376	Q6ZU15	SEP14_HUMAN	V	376	ENSP00000373627:D376V	ENSP00000373627:D376V	D	-	2	0	SEPT14	55831272	0.015000	0.18098	0.868000	0.34077	0.387000	0.30353	-0.009000	0.12765	0.868000	0.35678	0.248000	0.18094	GAC		0.378	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		12	11	0	0	0	0.010729	0	12	11				
ZNF138	7697	broad.mit.edu	37	7	64313386	64313386	+	IGR	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:64313386C>T								ZNF138 (19332 upstream) : ZNF273 (29484 downstream)																							TTGTCACATTCTGTGACCCCC	0.433																																							uc003ttj.1		NA																	0					0						c.(241-243)GAA>AAA		SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	168474							g.chr7:64313386C>T																													7.37:g.64313386C>T							p.E81K	NR_002789						1	793	-									Missense_Mutation	SNP		37	c.241G>A																																																																																				0	0.433									8	40	0	0	0	0.006214	0	8	40				
SEMA3C	10512	broad.mit.edu	37	7	80427497	80427497	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:80427497C>A	ENST00000265361.3	-	11	1603	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.V348L|SEMA3C_ENST00000536800.1_Missense_Mutation_p.V200L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V366L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	348	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V348L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTAAACACAGTCTGTATA	0.383																																							uc003uhj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1042-1044)GTG>TTG		semaphorin 3C precursor							60.0	59.0	59.0					7																	80427497		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80427497C>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1042G>T	7.37:g.80427497C>A	ENSP00000265361:p.Val348Leu					SEMA3C_uc011kgw.1_Missense_Mutation_p.V366L|SEMA3C_uc011kgx.1_Missense_Mutation_p.V200L	p.V348L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			11	1604	-			348			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1042G>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404650	0.96051	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.86028	2.79	0.80722	D	1	D;D;D	0.63046	0.986;0.99;0.992	P;P;P	0.62813	0.859;0.849;0.907	T	0.39981	-0.9587	10	0.87932	D	0	.	20.2302	0.98348	0.0:1.0:0.0:0.0	.	200;366;348	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	L	348;348;366;200	ENSP00000265361:V348L;ENSP00000411193:V348L;ENSP00000445649:V366L;ENSP00000438258:V200L	ENSP00000265361:V348L	V	-	1	0	SEMA3C	80265433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.859000	0.98148	0.591000	0.81541	GTG		0.383	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		18	35	1	0	2.37509e-13	0.010504	3.14262e-13	18	35				
HGF	3082	broad.mit.edu	37	7	81346567	81346567	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:81346567A>T	ENST00000222390.5	-	11	1612	c.1386T>A	c.(1384-1386)gaT>gaA	p.D462E	HGF_ENST00000457544.2_Missense_Mutation_p.D457E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	462	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.D462E(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAGGGCAATAATCCCAAGGAA	0.378																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1384-1386)GAT>GAA		hepatocyte growth factor isoform 1							202.0	162.0	176.0					7																	81346567		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81346567A>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1386T>A	7.37:g.81346567A>T	ENSP00000222390:p.Asp462Glu					HGF_uc003uhm.2_Missense_Mutation_p.D457E	p.D462E	NM_000601	NP_000592	P14210	HGF_HUMAN			11	1551	-			462			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1386T>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018992	0.75275	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.59638	0.25;0.25	6.02	4.88	0.63580	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	N	0.17082	0.46	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.994;0.996	T	0.50127	-0.8864	10	0.08381	T	0.77	.	8.8274	0.35063	0.8607:0.0:0.1393:0.0	.	457;462	P14210-3;P14210	.;HGF_HUMAN	E	462;457	ENSP00000222390:D462E;ENSP00000391238:D457E	ENSP00000222390:D462E	D	-	3	2	HGF	81184503	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.408000	0.44574	2.299000	0.77371	0.528000	0.53228	GAT		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		24	55	0	0	0	0.005443	0	24	55				
SEMA3A	10371	broad.mit.edu	37	7	83590774	83590774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:83590774G>T	ENST00000265362.4	-	17	2543	c.2229C>A	c.(2227-2229)aaC>aaA	p.N743K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N743K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	743	Arg/Lys-rich (basic).				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.N743K(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATTTGTTACTGTTCCCTGGGG	0.473																																							uc003uhz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(2227-2229)AAC>AAA		semaphorin 3A precursor							204.0	188.0	193.0					7																	83590774		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590774G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2229C>A	7.37:g.83590774G>T	ENSP00000265362:p.Asn743Lys						p.N743K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			17	2544	-			743			Arg/Lys-rich (basic).			Missense_Mutation	SNP	ENST00000265362.4	37	c.2229C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	g	0.648	-0.810685	0.02798	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.26067	1.76;1.76	6.08	2.96	0.34315	.	0.555420	0.22109	N	0.064511	T	0.12390	0.0301	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.33137	-0.9880	10	0.02654	T	1	.	11.755	0.51870	0.3058:0.0:0.6942:0.0	.	743	Q14563	SEM3A_HUMAN	K	743	ENSP00000265362:N743K;ENSP00000415260:N743K	ENSP00000265362:N743K	N	-	3	2	SEMA3A	83428710	0.009000	0.17119	0.946000	0.38457	0.844000	0.47949	0.024000	0.13555	0.477000	0.27464	-0.713000	0.03633	AAC		0.473	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		60	101	1	0	1.53716e-24	0.01441	2.27727e-24	60	101				
SEMA3A	10371	broad.mit.edu	37	7	83636694	83636694	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:83636694C>T	ENST00000265362.4	-	10	1429	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R372K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.R372K(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAGGGGACTCTTCCTTGATA	0.443																																							uc003uhz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(1114-1116)AGA>AAA		semaphorin 3A precursor							147.0	132.0	137.0					7																	83636694		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83636694C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1115G>A	7.37:g.83636694C>T	ENSP00000265362:p.Arg372Lys						p.R372K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			10	1430	-			372			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1115G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	9.987	1.229758	0.22542	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.09630	2.96;2.96	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	N	0.22421	0.69	0.54753	D	0.999983	B	0.17852	0.024	B	0.21546	0.035	T	0.11792	-1.0573	10	0.07482	T	0.82	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	372	Q14563	SEM3A_HUMAN	K	372	ENSP00000265362:R372K;ENSP00000415260:R372K	ENSP00000265362:R372K	R	-	2	0	SEMA3A	83474630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.923000	0.63412	2.154000	0.67381	0.561000	0.74099	AGA		0.443	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		9	74	0	0	0	0.008291	0	9	74				
CROT	54677	broad.mit.edu	37	7	87011402	87011402	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:87011402G>T	ENST00000331536.3	+	12	1260	c.1075G>T	c.(1075-1077)Gta>Tta	p.V359L	CROT_ENST00000419147.2_Missense_Mutation_p.V387L|CROT_ENST00000442291.1_Missense_Mutation_p.V359L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	359					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.V359L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTCAGAGAAGGTACGAGATAT	0.338																																							uc003uit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1075-1077)GTA>TTA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						71.0	71.0	71.0					7																	87011402		2203	4298	6501	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011402G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1075G>T	7.37:g.87011402G>T	ENSP00000331981:p.Val359Leu					CROT_uc003uiu.2_Missense_Mutation_p.V387L	p.V359L	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			12	1320	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		359					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1075G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169580	0.57584	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89270	-2.49;-2.49;-2.49	5.3	5.3	0.74995	.	0.171825	0.50627	D	0.000108	D	0.89473	0.6725	M	0.62723	1.935	0.80722	D	1	P;B	0.35174	0.488;0.038	B;B	0.40982	0.345;0.027	D	0.86917	0.2064	10	0.25751	T	0.34	-8.8549	19.3145	0.94206	0.0:0.0:1.0:0.0	.	387;359	E7EQF2;Q9UKG9	.;OCTC_HUMAN	L	387;359;359	ENSP00000413575:V387L;ENSP00000331981:V359L;ENSP00000411983:V359L	ENSP00000331981:V359L	V	+	1	0	CROT	86849338	1.000000	0.71417	0.936000	0.37596	0.952000	0.60782	6.352000	0.73027	2.642000	0.89623	0.467000	0.42956	GTA		0.338	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		19	43	1	0	1.01871e-10	0.008871	1.26126e-10	19	43				
ZAN	7455	broad.mit.edu	37	7	100334234	100334234	+	RNA	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:100334234G>A	ENST00000348028.3	+	0	400				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G79R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGGCCCCCGGGGGGTACCC	0.657																																							uc003uwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(235-237)GGG>AGG		zonadhesin isoform 3							43.0	42.0	42.0					7																	100334234		1762	3859	5621			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334234G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334234G>A						ZAN_uc003uwk.2_Missense_Mutation_p.G79R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.G79R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		4	400	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		79			MAM 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.235G>A		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420862	0.42918	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02103	4.45;4.45;4.45	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.33477	N	0.004863	T	0.10078	0.0247	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00731	-1.1590	10	0.59425	D	0.04	.	13.546	0.61705	0.0:0.0:1.0:0.0	.	79;79	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	79	ENSP00000445943:G79R;ENSP00000445091:G79R;ENSP00000444427:G79R	ENSP00000423579:G79R	G	+	1	0	ZAN	100172170	0.997000	0.39634	0.874000	0.34290	0.050000	0.14768	4.272000	0.58908	2.470000	0.83445	0.561000	0.74099	GGG		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		43	58	0	0	0	0.01441	0	43	58				
SLC12A9	56996	broad.mit.edu	37	7	100459433	100459433	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:100459433G>T	ENST00000354161.3	+	12	1736	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	SLC12A9_ENST00000428758.1_Silent_p.L537L|SLC12A9_ENST00000415287.1_Silent_p.L448L|SLC12A9_ENST00000540482.1_Silent_p.L537L|SLC12A9_ENST00000275729.3_Silent_p.L448L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	537					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.L537L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTGCTCCTGGTGGGGAACC	0.657																																							uc003uwp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1609-1611)CTG>CTT		solute carrier family 12 (potassium/chloride							45.0	51.0	49.0					7																	100459433		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459433G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1611G>T	7.37:g.100459433G>T						SLC12A9_uc003uwq.2_Silent_p.L448L|SLC12A9_uc011kki.1_Silent_p.L68L|SLC12A9_uc003uwr.2_Silent_p.L273L|SLC12A9_uc003uws.2_Silent_p.L68L|SLC12A9_uc003uwt.2_Silent_p.L273L|SLC12A9_uc003uwv.2_Silent_p.L68L	p.L537L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			12	1753	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		537			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.1611G>T	CCDS5707.1																																																																																				0.657	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		8	68	1	0	0.000274275	0.004482	0.000291067	8	68				
CUX1	1523	broad.mit.edu	37	7	101870761	101870761	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:101870761A>G	ENST00000292535.7	+	21	3283	c.3245A>G	c.(3244-3246)gAg>gGg	p.E1082G	CUX1_ENST00000360264.3_Missense_Mutation_p.E1093G|CUX1_ENST00000549414.2_Missense_Mutation_p.E1060G|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E924G|CUX1_ENST00000546411.2_Missense_Mutation_p.E980G|CUX1_ENST00000550008.2_Missense_Mutation_p.E1026G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1082					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.E1082G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCCCATCGAGGCGAGCAAG	0.677																																							uc003uyx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3244-3246)GAG>GGG		cut-like homeobox 1 isoform a							66.0	70.0	69.0					7																	101870761		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870761A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3245A>G	7.37:g.101870761A>G	ENSP00000292535:p.Glu1082Gly					CUX1_uc003uys.3_Missense_Mutation_p.E1093G|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.E1082G	NM_181552	NP_853530	P39880	CUX1_HUMAN			21	3283	+			1082					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3245A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121178	0.37436	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62105	0.06;0.07;0.06;0.05;0.05;0.05	5.88	5.88	0.94601	.	0.383865	0.29087	N	0.013194	T	0.59810	0.2221	L	0.55481	1.735	0.80722	D	1	B;B	0.30361	0.181;0.277	B;B	0.27380	0.036;0.079	T	0.61831	-0.6982	10	0.87932	D	0	-1.1349	16.3009	0.82811	1.0:0.0:0.0:0.0	.	1082;1093	P39880;P39880-3	CUX1_HUMAN;.	G	1093;1082;1060;1026;980;924	ENSP00000353401:E1093G;ENSP00000292535:E1082G;ENSP00000446630:E1060G;ENSP00000447373:E1026G;ENSP00000450125:E980G;ENSP00000451558:E924G	ENSP00000292535:E1082G	E	+	2	0	CUX1	101657481	1.000000	0.71417	0.112000	0.21494	0.083000	0.17756	6.858000	0.75461	2.246000	0.74042	0.533000	0.62120	GAG		0.677	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		34	46	0	0	0	0.003271	0	34	46				
LAMB4	22798	broad.mit.edu	37	7	107732801	107732801	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:107732801C>T	ENST00000388781.3	-	13	1614	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	LAMB4_ENST00000418464.1_Missense_Mutation_p.G511R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G511R|LAMB4_ENST00000388780.3_Missense_Mutation_p.G511R|LAMB4_ENST00000414450.2_Missense_Mutation_p.G511R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	511	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.G511R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAGCACCTCCAATATCACAG	0.383																																							uc010ljo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1531-1533)GGA>AGA		laminin, beta 4 precursor							92.0	88.0	89.0					7																	107732801		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107732801C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1531G>A	7.37:g.107732801C>T	ENSP00000373433:p.Gly511Arg					LAMB4_uc003vey.2_Missense_Mutation_p.G511R	p.G511R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			13	1615	-			511			Laminin EGF-like 5; truncated.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1531G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420006	0.83559	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	4.92	4.04	0.47022	EGF-like, laminin (3);	0.000000	0.48286	D	0.000186	T	0.68293	0.2985	L	0.47078	1.49	0.80722	D	1	D	0.62365	0.991	D	0.67900	0.954	T	0.72074	-0.4400	10	0.87932	D	0	.	14.4731	0.67529	0.1482:0.8518:0.0:0.0	.	511	A4D0S4	LAMB4_HUMAN	R	511	ENSP00000205386:G511R;ENSP00000373433:G511R;ENSP00000373432:G511R;ENSP00000402353:G511R;ENSP00000402265:G511R	ENSP00000205386:G511R	G	-	1	0	LAMB4	107520037	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	3.191000	0.50981	1.295000	0.44724	0.643000	0.83706	GGA		0.383	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		14	25	0	0	0	0.003163	0	14	25				
PTPRZ1	5803	broad.mit.edu	37	7	121681017	121681017	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:121681017G>C	ENST00000393386.2	+	21	6196	c.5785G>C	c.(5785-5787)Gtt>Ctt	p.V1929L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1062L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1929	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1929L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTGGGGCCTGTTGTCGTCCA	0.507																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5785-5787)GTT>CTT		protein tyrosine phosphatase, receptor-type,							75.0	67.0	69.0					7																	121681017		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121681017G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5785G>C	7.37:g.121681017G>C	ENSP00000377047:p.Val1929Leu					PTPRZ1_uc003vjz.2_Missense_Mutation_p.V1062L|PTPRZ1_uc011knt.1_Missense_Mutation_p.V519L	p.V1929L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			21	6180	+			1929			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5785G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253452	0.59212	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.17054	2.3;2.3	6.06	5.19	0.71726	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.099013	0.43919	D	0.000515	T	0.10465	0.0256	N	0.17248	0.465	0.45930	D	0.998764	P;B;P	0.43431	0.807;0.338;0.712	B;B;B	0.34301	0.13;0.179;0.097	T	0.07195	-1.0785	10	0.72032	D	0.01	.	13.2471	0.60029	0.1314:0.0:0.8686:0.0	.	1068;1062;1929	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	L	1929;1062	ENSP00000377047:V1929L;ENSP00000410000:V1062L	ENSP00000377047:V1929L	V	+	1	0	PTPRZ1	121468253	1.000000	0.71417	0.580000	0.28601	0.983000	0.72400	4.126000	0.57937	1.579000	0.49836	0.650000	0.86243	GTT		0.507	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		60	40	0	0	0	0.01441	0	60	40				
AASS	10157	broad.mit.edu	37	7	121756792	121756792	+	Silent	SNP	C	C	T	rs535077163		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:121756792C>T	ENST00000393376.1	-	7	884	c.789G>A	c.(787-789)acG>acA	p.T263T	AASS_ENST00000417368.2_Silent_p.T263T|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	263	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T263T(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GACTTAACACCGTCCCATACA	0.353																																							uc003vka.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(787-789)ACG>ACA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						73.0	65.0	68.0					7																	121756792		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756792C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.789G>A	7.37:g.121756792C>T						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.T263T|AASS_uc011knw.1_Intron	p.T263T	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			7	885	-			263			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.789G>A	CCDS5783.1																																																																																				0.353	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	95	0	0	0	0.009096	0	4	95				
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T	rs397516896		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in NHL). {ECO:0000269|PubMed:14612909}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AGACCAAAATCACCTATTTTT	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	11	Substitution - Missense(11)	p.D594G(27)|p.D594N(7)|p.D594K(3)|p.D594V(2)|p.D594_T599del(1)|p.D594E(1)	skin(6)|large_intestine(2)|lung(2)|haematopoietic_and_lymphoid_tissue(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1780-1782)GAT>AAT		B-Raf	Sorafenib(DB00398)						106.0	100.0	102.0					7																	140453155		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453155C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1780G>A	7.37:g.140453155C>T	ENSP00000288602:p.Asp594Asn						p.D594N	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1841	-	Melanoma(164;0.00956)		594		D -> G (in NHL).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1780G>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616687	0.96649	.	.	ENSG00000157764	ENST00000288602	D	0.99849	-7.15	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96728	0.9537	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	594	P15056	BRAF_HUMAN	N	594	ENSP00000288602:D594N	ENSP00000288602:D594N	D	-	1	0	BRAF	140099624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.686000	0.91538	0.650000	0.86243	GAT		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	68	0	0	0	0.006999	0	38	68				
EPHB6	2051	broad.mit.edu	37	7	142565423	142565423	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:142565423C>G	ENST00000392957.2	+	12	2595	c.1808C>G	c.(1807-1809)gCt>gGt	p.A603G	EPHB6_ENST00000411471.2_Missense_Mutation_p.A326G|EPHB6_ENST00000442129.1_Missense_Mutation_p.A603G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	603			A -> P (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.A588G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ATCCTGGGGGCTTTGGCCTTC	0.642																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1807-1809)GCT>GGT		ephrin receptor EphB6 precursor							52.0	52.0	52.0					7																	142565423		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142565423C>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1808C>G	7.37:g.142565423C>G	ENSP00000376684:p.Ala603Gly					EPHB6_uc011ksu.1_Missense_Mutation_p.A603G|EPHB6_uc003wbs.2_Missense_Mutation_p.A311G|EPHB6_uc003wbt.2_Missense_Mutation_p.A77G|EPHB6_uc003wbu.2_Missense_Mutation_p.A311G|EPHB6_uc003wbv.2_5'UTR	p.A603G	NM_004445	NP_004436	O15197	EPHB6_HUMAN			12	2595	+	Melanoma(164;0.059)		603		A -> P (in a colorectal cancer sample; somatic mutation).	Helical; (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1808C>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	2.773	-0.255259	0.05829	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.08546	3.08;3.08;3.08	3.91	3.02	0.34903	.	0.162902	0.28901	N	0.013765	T	0.02380	0.0073	N	0.02357	-0.585	0.26960	N	0.965832	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.45702	-0.9243	10	0.02654	T	1	.	5.6363	0.17538	0.0:0.6842:0.2017:0.1142	.	603;326	O15197;O15197-2	EPHB6_HUMAN;.	G	603;603;326	ENSP00000376684:A603G;ENSP00000410789:A603G;ENSP00000409061:A326G	ENSP00000376684:A603G	A	+	2	0	EPHB6	142275545	0.981000	0.34729	0.986000	0.45419	0.995000	0.86356	2.107000	0.41844	0.764000	0.33197	0.561000	0.74099	GCT		0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			17	10	0	0	0	0.014323	0	17	10				
EPHB6	2051	broad.mit.edu	37	7	142565468	142565468	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:142565468T>G	ENST00000392957.2	+	12	2640	c.1853T>G	c.(1852-1854)gTc>gGc	p.V618G	EPHB6_ENST00000411471.2_Missense_Mutation_p.V341G|EPHB6_ENST00000442129.1_Missense_Mutation_p.V618G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	618						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.V603G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGCGGTCGTCTTCCAGCGG	0.612																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1852-1854)GTC>GGC		ephrin receptor EphB6 precursor							36.0	37.0	37.0					7																	142565468		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142565468T>G	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1853T>G	7.37:g.142565468T>G	ENSP00000376684:p.Val618Gly					EPHB6_uc011ksu.1_Missense_Mutation_p.V618G|EPHB6_uc003wbs.2_Missense_Mutation_p.V326G|EPHB6_uc003wbt.2_Missense_Mutation_p.V92G|EPHB6_uc003wbu.2_Missense_Mutation_p.V326G|EPHB6_uc003wbv.2_5'UTR	p.V618G	NM_004445	NP_004436	O15197	EPHB6_HUMAN			12	2640	+	Melanoma(164;0.059)		618			Cytoplasmic (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1853T>G	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573306	0.45902	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.10382	2.88;2.88;2.88	4.42	4.42	0.53409	.	0.345847	0.20954	N	0.082690	T	0.13884	0.0336	M	0.78049	2.395	0.54753	D	0.999981	P;B	0.35383	0.498;0.328	B;B	0.31686	0.134;0.124	T	0.03453	-1.1035	10	0.27785	T	0.31	.	11.0462	0.47859	0.0:0.0:0.0:1.0	.	618;341	O15197;O15197-2	EPHB6_HUMAN;.	G	618;618;341	ENSP00000376684:V618G;ENSP00000410789:V618G;ENSP00000409061:V341G	ENSP00000376684:V618G	V	+	2	0	EPHB6	142275590	1.000000	0.71417	0.896000	0.35187	0.858000	0.48976	6.138000	0.71717	1.632000	0.50472	0.459000	0.35465	GTC		0.612	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			11	13	0	0	0	0.008291	0	11	13				
CLCN1	1180	broad.mit.edu	37	7	143047543	143047543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:143047543C>A	ENST00000343257.2	+	21	2569	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	828	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L828M(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCCCTTCCAGCTGGTGGAGCA	0.567																																							uc003wcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2482-2484)CTG>ATG		chloride channel 1, skeletal muscle							131.0	106.0	114.0					7																	143047543		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143047543C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2482C>A	7.37:g.143047543C>A	ENSP00000339867:p.Leu828Met					CLCN1_uc011ktc.1_Missense_Mutation_p.L440M	p.L828M	NM_000083	NP_000074	P35523	CLCN1_HUMAN			21	2569	+	Melanoma(164;0.205)		828			CBS 2.|Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2482C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864713	0.71949	.	.	ENSG00000188037	ENST00000343257	D	0.89415	-2.51	4.52	4.52	0.55395	Cystathionine beta-synthase, core (1);	0.231700	0.36893	N	0.002343	D	0.95655	0.8587	H	0.94264	3.515	0.46298	D	0.998975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96392	0.9290	10	0.87932	D	0	.	12.9598	0.58451	0.0:0.9183:0.0:0.0817	.	27;828	Q75L28;P35523	.;CLCN1_HUMAN	M	828	ENSP00000339867:L828M	ENSP00000339867:L828M	L	+	1	2	CLCN1	142757665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.226000	0.58606	2.357000	0.79964	0.462000	0.41574	CTG		0.567	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		39	27	1	0	1.49673e-21	0.00623	2.14408e-21	39	27				
KRBA1	84626	broad.mit.edu	37	7	149419891	149419891	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:149419891A>C	ENST00000485033.2	+	6	616	c.616A>C	c.(616-618)Agc>Cgc	p.S206R	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.S206R|KRBA1_ENST00000255992.10_Missense_Mutation_p.S206R			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	206								p.S206R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTGGGAACAGCCCCTTGCA	0.622																																							uc003wfz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)AGC>CGC		KRAB A domain containing 1							55.0	60.0	58.0					7																	149419891		1972	4152	6124	SO:0001583	missense	84626							g.chr7:149419891A>C	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.616A>C	7.37:g.149419891A>C	ENSP00000420112:p.Ser206Arg					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.S206R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		7	1015	+	Melanoma(164;0.165)|Ovarian(565;0.177)		206					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.616A>C		.	.	.	.	.	.	.	.	.	.	A	20.9	4.063043	0.76187	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.39997	1.08;1.05;1.05	4.92	4.92	0.64577	.	0.000000	0.52532	D	0.000071	T	0.50752	0.1634	L	0.34521	1.04	0.33393	D	0.576411	D	0.76494	0.999	D	0.74023	0.982	T	0.64076	-0.6492	10	0.66056	D	0.02	-19.5077	10.9701	0.47434	1.0:0.0:0.0:0.0	.	206	A5PL33	KRBA1_HUMAN	R	206	ENSP00000255992:S206R;ENSP00000317165:S206R;ENSP00000420112:S206R	ENSP00000255992:S206R	S	+	1	0	KRBA1	149050824	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	3.104000	0.50306	1.853000	0.53794	0.459000	0.35465	AGC		0.622	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		16	80	0	0	0	0.00499	0	16	80				
AOC1	26	broad.mit.edu	37	7	150554886	150554886	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:150554886C>A	ENST00000493429.1	+	4	1912	c.1328C>A	c.(1327-1329)gCg>gAg	p.A443E	AOC1_ENST00000360937.4_Missense_Mutation_p.A443E|AOC1_ENST00000467291.1_Missense_Mutation_p.A443E|AOC1_ENST00000416793.2_Missense_Mutation_p.A443E			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	443					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.A443E(1)								Amiloride(DB00594)	AACTTCTATGCGGGGCTGAAG	0.517																																						Pancreas(195;1227 3054 24912 28503)	uc003why.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1327-1329)GCG>GAG		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						57.0	61.0	59.0					7																	150554886		1946	4131	6077	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554886C>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1328C>A	7.37:g.150554886C>A	ENSP00000418614:p.Ala443Glu					ABP1_uc003whz.1_Missense_Mutation_p.A443E|ABP1_uc003wia.1_Missense_Mutation_p.A443E	p.A443E	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5546	+	all_neural(206;0.219)		443					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1328C>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450724	0.43531	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	4.96	4.05	0.47172	Copper amine oxidase, C-terminal (3);	0.388045	0.29948	N	0.010785	T	0.10380	0.0254	L	0.58428	1.81	0.43330	D	0.995367	D;P	0.56521	0.976;0.749	P;B	0.55577	0.779;0.367	T	0.01528	-1.1332	10	0.72032	D	0.01	-5.6789	11.7574	0.51882	0.0:0.6569:0.3431:0.0	.	443;443	C9J690;P19801	.;ABP1_HUMAN	E	443;443;443;443;319	ENSP00000418614:A443E;ENSP00000418328:A443E;ENSP00000354193:A443E;ENSP00000411613:A443E	ENSP00000354193:A443E	A	+	2	0	ABP1	150185819	0.966000	0.33281	0.096000	0.21009	0.485000	0.33311	1.752000	0.38349	1.389000	0.46526	0.561000	0.74099	GCG		0.517	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		43	23	1	0	6.68952e-21	0.013114	9.50424e-21	43	23				
DOCK5	80005	broad.mit.edu	37	8	25136098	25136098	+	Missense_Mutation	SNP	G	G	T	rs368748190		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:25136098G>T	ENST00000276440.7	+	5	282	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	DOCK5_ENST00000481100.1_Missense_Mutation_p.V80L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	80					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V80L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCATGAAACCGTGATTCCTGG	0.537																																					Pancreas(145;34 1887 3271 10937 30165)	Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(238-240)GTG>TTG		dedicator of cytokinesis 5							137.0	113.0	121.0					8																	25136098		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25136098G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.238G>T	8.37:g.25136098G>T	ENSP00000276440:p.Val80Leu					DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_Missense_Mutation_p.V80L	p.V80L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	5	375	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	80					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.238G>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674525	0.47781	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.58652	0.32;0.32	6.06	6.06	0.98353	Src homology-3 domain (1);	0.069230	0.64402	D	0.000012	T	0.58308	0.2113	M	0.78637	2.42	0.43617	D	0.995999	B	0.06786	0.001	B	0.09377	0.004	T	0.56038	-0.8045	10	0.48119	T	0.1	.	11.3854	0.49782	0.0813:0.0:0.9187:0.0	.	80	Q9H7D0	DOCK5_HUMAN	L	80	ENSP00000429737:V80L;ENSP00000276440:V80L	ENSP00000276440:V80L	V	+	1	0	DOCK5	25192015	1.000000	0.71417	0.976000	0.42696	0.767000	0.43475	4.326000	0.59241	2.882000	0.98803	0.655000	0.94253	GTG		0.537	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		9	10	1	0	1.33987e-11	0.008291	1.70768e-11	9	10				
KCNU1	157855	broad.mit.edu	37	8	36788633	36788633	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:36788633C>A	ENST00000399881.3	+	25	2938	c.2901C>A	c.(2899-2901)tcC>tcA	p.S967S	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	967					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S967S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGCTTCTGTCCTTACACGAAA	0.433																																							uc010lvw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2899-2901)TCC>TCA		potassium channel, subfamily U, member 1							140.0	133.0	135.0					8																	36788633		1904	4120	6024	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36788633C>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2901C>A	8.37:g.36788633C>A						KCNU1_uc003xjw.2_RNA	p.S967S	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	25	2988	+			967			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.2901C>A	CCDS55220.1																																																																																				0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		22	157	1	0	6.44725e-10	0.014323	7.85145e-10	22	157				
PXDNL	137902	broad.mit.edu	37	8	52322075	52322075	+	Missense_Mutation	SNP	G	G	C	rs370538869		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:52322075G>C	ENST00000356297.4	-	17	2209	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I703M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	703					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I703M(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATAAATTGGCGATGAGGCTGA	0.627																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2107-2109)ATC>ATG		peroxidasin homolog-like precursor							32.0	36.0	35.0					8																	52322075		2125	4243	6368	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52322075G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2109C>G	8.37:g.52322075G>C	ENSP00000348645:p.Ile703Met					PXDNL_uc003xqt.3_RNA	p.I703M	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2210	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	703					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2109C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013255	0.19277	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68181	-0.31;-0.31	3.43	-1.5	0.08691	.	.	.	.	.	T	0.77032	0.4071	M	0.81802	2.56	0.24804	N	0.992683	D	0.69078	0.997	D	0.66497	0.944	T	0.66093	-0.6009	8	.	.	.	.	7.5241	0.27645	0.7163:0.0:0.2837:0.0	.	703	A1KZ92	PXDNL_HUMAN	M	703	ENSP00000348645:I703M;ENSP00000444865:I703M	.	I	-	3	3	PXDNL	52484628	0.107000	0.21998	0.019000	0.16419	0.019000	0.09904	-0.718000	0.04980	-0.161000	0.10983	-0.258000	0.10820	ATC		0.627	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		25	14	0	0	0	0.00632	0	25	14				
RGS20	8601	broad.mit.edu	37	8	54792025	54792025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:54792025G>T	ENST00000297313.3	+	2	465	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	125					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G125C(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGAGCTGCCGGGCCGCCTCTC	0.786																																							uc003xrp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)GGC>TGC		regulator of G-protein signaling 20 isoform a							5.0	7.0	7.0					8																	54792025		1802	3610	5412	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54792025G>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.373G>T	8.37:g.54792025G>T	ENSP00000297313:p.Gly125Cys					RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	p.G125C	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	465	+			125					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.373G>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283958	0.40394	.	.	ENSG00000147509	ENST00000297313	T	0.60299	0.2	4.27	2.41	0.29592	.	53.026900	0.00166	N	0.000001	T	0.67277	0.2876	L	0.50333	1.59	0.20074	N	0.999939	D	0.67145	0.996	P	0.57371	0.819	T	0.43048	-0.9415	10	0.59425	D	0.04	.	6.9677	0.24632	0.102:0.1856:0.7124:0.0	.	125	O76081	RGS20_HUMAN	C	125	ENSP00000297313:G125C	ENSP00000297313:G125C	G	+	1	0	RGS20	54954578	0.666000	0.27475	0.100000	0.21137	0.264000	0.26372	2.356000	0.44116	0.416000	0.25844	0.561000	0.74099	GGC		0.786	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			13	7	1	0	1.99824e-07	0.00499	2.2837e-07	13	7				
RDH10	157506	broad.mit.edu	37	8	74231418	74231418	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:74231418G>T	ENST00000240285.5	+	3	1291	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	RDH10_ENST00000519380.1_Missense_Mutation_p.A40S|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	205					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.A205S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GTTCAGTACTGCCGGAGTTGA	0.433																																							uc003xzi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GCC>TCC		retinol dehydrogenase 10							221.0	200.0	207.0					8																	74231418		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74231418G>T	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.613G>T	8.37:g.74231418G>T	ENSP00000240285:p.Ala205Ser					RDH10_uc003xzj.2_Missense_Mutation_p.A40S|uc003xzk.1_Intron	p.A205S	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		3	873	+	Breast(64;0.0954)		205						Missense_Mutation	SNP	ENST00000240285.5	37	c.613G>T	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497448	0.64186	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.90004	-2.6;-2.6;0.65	5.42	5.42	0.78866	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	L	0.40543	1.245	0.80722	D	1	P	0.45126	0.851	P	0.45474	0.482	D	0.84588	0.0665	10	0.23891	T	0.37	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	205	Q8IZV5	RDH10_HUMAN	S	205;40;40	ENSP00000240285:A205S;ENSP00000429727:A40S;ENSP00000428132:A40S	ENSP00000240285:A205S	A	+	1	0	RDH10	74393972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.820000	0.97059	0.650000	0.86243	GCC		0.433	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			29	165	1	0	1.13719e-10	0.008361	1.40461e-10	29	165				
RAD54B	25788	broad.mit.edu	37	8	95390564	95390564	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:95390564C>A	ENST00000336148.5	-	14	2483	c.2359G>T	c.(2359-2361)Ggt>Tgt	p.G787C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	787	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.G787C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCACAAAGACCTTGCTTACTG	0.328								Direct reversal of damage;Homologous recombination																															uc003ygk.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(2359-2361)GGT>TGT	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							94.0	82.0	86.0					8																	95390564		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95390564C>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2359G>T	8.37:g.95390564C>A	ENSP00000336606:p.Gly787Cys						p.G787C	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		14	2457	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.2359G>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398431	0.83120	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.76060	-0.99	5.76	3.95	0.45737	Helicase, C-terminal (1);	0.359721	0.34435	N	0.003969	D	0.86184	0.5872	M	0.93720	3.45	0.80722	D	1	D	0.61080	0.989	P	0.56514	0.8	D	0.89371	0.3675	10	0.72032	D	0.01	-19.7953	12.1566	0.54081	0.0:0.862:0.0:0.1379	.	787	Q9Y620	RA54B_HUMAN	C	787;459	ENSP00000336606:G787C	ENSP00000336606:G787C	G	-	1	0	RAD54B	95459740	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.635000	0.54309	1.584000	0.49913	0.655000	0.94253	GGT		0.328	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		12	11	1	0	2.32078e-09	0.003163	2.78709e-09	12	11				
PTDSS1	9791	broad.mit.edu	37	8	97312032	97312032	+	Silent	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:97312032C>T	ENST00000517309.1	+	6	1037	c.711C>T	c.(709-711)tgC>tgT	p.C237C	PTDSS1_ENST00000455950.2_Silent_p.C91C|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.C34C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	237					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.C237C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGGTCGTTTGCCGGTTTTTAG	0.448																																							uc003yht.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(709-711)TGC>TGT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						180.0	166.0	171.0					8																	97312032		2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97312032C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.711C>T	8.37:g.97312032C>T						PTDSS1_uc003yhu.1_Silent_p.C91C	p.C237C	NM_014754	NP_055569	P48651	PTSS1_HUMAN			6	813	+	Breast(36;6.18e-05)		237			Helical; (Potential).		E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.711C>T	CCDS6271.1																																																																																				0.448	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			71	46	0	0	0	0.01441	0	71	46				
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:110477365G>A	ENST00000378402.5	+	49	8408	c.8304G>A	c.(8302-8304)ggG>ggA	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463										HNSCC(38;0.096)																													uc003yne.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8302-8304)GGG>GGA		fibrocystin L precursor							119.0	120.0	120.0					8																	110477365		1936	4134	6070	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477365G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8304G>A	8.37:g.110477365G>A		HNSCC(38;0.096)					p.G2768G	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8408	+			2768			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.8304G>A	CCDS47911.1																																																																																				0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		47	28	0	0	0	0.01441	0	47	28				
CSMD3	114788	broad.mit.edu	37	8	114326822	114326822	+	Missense_Mutation	SNP	G	G	T	rs370667704		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:114326822G>T	ENST00000297405.5	-	2	623	c.379C>A	c.(379-381)Cat>Aat	p.H127N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H87N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H127N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	127	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H87N(1)|p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTAGGATGAGGATGTCCA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(379-381)CAT>AAT		CUB and Sushi multiple domains 3 isoform 1							125.0	117.0	120.0					8																	114326822		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326822G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.379C>A	8.37:g.114326822G>T	ENSP00000297405:p.His127Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.H87N|CSMD3_uc011lhx.1_Missense_Mutation_p.H127N|CSMD3_uc010mcx.1_Missense_Mutation_p.H127N|CSMD3_uc003ynx.3_Missense_Mutation_p.H127N	p.H127N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	538	-			127			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.379C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736143	0.15574	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000005	T	0.24275	0.0588	N	0.16016	0.355	0.32333	N	0.560769	B;B;P;D;B	0.54964	0.001;0.02;0.782;0.969;0.129	B;B;B;D;B	0.70227	0.001;0.013;0.327;0.968;0.097	T	0.07443	-1.0772	10	0.10636	T	0.68	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	127;127;127;127;87	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	N	87;127;127;127	ENSP00000345799:H87N;ENSP00000297405:H127N;ENSP00000412263:H127N;ENSP00000343124:H127N	ENSP00000297405:H127N	H	-	1	0	CSMD3	114395998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.588000	0.74076	2.697000	0.92050	0.557000	0.71058	CAT		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	75	1	0	0.000274275	0.004482	0.000291067	9	75				
SNTB1	6641	broad.mit.edu	37	8	121706015	121706015	+	Silent	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:121706015G>A	ENST00000395601.3	-	3	1119	c.705C>T	c.(703-705)ttC>ttT	p.F235F	SNTB1_ENST00000517992.1_Silent_p.F235F|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	235	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.F235F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTGGAAGGAGAAGGACTGCG	0.562																																							uc010mdg.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)	5						c.(703-705)TTC>TTT		basic beta 1 syntrophin							98.0	89.0	92.0					8																	121706015		2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706015G>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.705C>T	8.37:g.121706015G>A						SNTB1_uc003ype.2_Silent_p.F235F	p.F235F	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	931	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		235			PH 1.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.705C>T	CCDS6334.1																																																																																				0.562	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		6	69	0	0	0	0.001984	0	6	69				
ADCY8	114	broad.mit.edu	37	8	132051897	132051897	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:132051897G>A	ENST00000286355.5	-	1	2775	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A228V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	228					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A228V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACCACCAGGGCGCAGATCAC	0.632										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(682-684)GCC>GTC		adenylate cyclase 8							62.0	58.0	59.0					8																	132051897		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051897G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.683C>T	8.37:g.132051897G>A	ENSP00000286355:p.Ala228Val	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A228V	p.A228V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	939	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		228			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.683C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	5.633	0.301498	0.10678	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.47177	0.85;0.85	5.46	4.58	0.56647	.	0.198462	0.44285	D	0.000478	T	0.27419	0.0673	N	0.12887	0.27	0.34708	D	0.727416	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25293	-1.0136	10	0.09590	T	0.72	.	13.161	0.59544	0.0768:0.0:0.9232:0.0	.	228;228	E7EVL1;P40145	.;ADCY8_HUMAN	V	228	ENSP00000286355:A228V;ENSP00000367161:A228V	ENSP00000286355:A228V	A	-	2	0	ADCY8	132121079	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.513000	0.60476	1.318000	0.45170	0.455000	0.32223	GCC		0.632	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			8	46	0	0	0	0.004482	0	8	46				
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592										HNSCC(7;0.00092)																													uc003yvd.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(11)|pancreas(1)|skin(1)	13						c.(1429-1431)TCC>TCA		collagen, type XXII, alpha 1							75.0	64.0	68.0					8																	139824060		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824060G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1431C>A	8.37:g.139824060G>T		HNSCC(7;0.00092)					p.S477S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1878	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		477			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1431C>A	CCDS6376.1																																																																																				0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	76	1	0	1.06961e-07	0.00308	1.23053e-07	7	76				
DOCK8	81704	broad.mit.edu	37	9	446549	446549	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:446549C>A	ENST00000453981.1	+	44	5872	c.5760C>A	c.(5758-5760)acC>acA	p.T1920T	DOCK8_ENST00000469391.1_Silent_p.T1820T|DOCK8_ENST00000432829.2_Silent_p.T1852T|DOCK8_ENST00000382329.1_Silent_p.T1387T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1920	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.T1852T(1)|p.T1920T(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGTCCTGACCACTATGCACG	0.577																																							uc003zgf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(5758-5760)ACC>ACA		dedicator of cytokinesis 8							93.0	89.0	90.0					9																	446549		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:446549C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5760C>A	9.37:g.446549C>A						DOCK8_uc010mgu.2_Silent_p.T1222T|DOCK8_uc010mgv.2_Silent_p.T1820T|DOCK8_uc003zgk.2_Silent_p.T1378T	p.T1920T	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	44	5872	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1920					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5760C>A	CCDS6440.2																																																																																				0.577	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		15	44	1	0	1.49906e-05	0.00245	1.63078e-05	15	44				
SPATA31A1	647060	broad.mit.edu	37	9	39361081	39361081	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:39361081A>T	ENST00000377647.3	+	4	3348	c.3319A>T	c.(3319-3321)Att>Ttt	p.I1107F		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1107					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I1107F(1)									GTTTCCCCCTATTCACAAGAG	0.478																																							uc004abm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3319-3321)ATT>TTT		hypothetical protein LOC642265							116.0	115.0	115.0					9																	39361081		1801	4054	5855	SO:0001583	missense	642265					integral to membrane		g.chr9:39361081A>T		CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 36"", ""family with sequence similarity 75, member A1"""	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3319A>T	9.37:g.39361081A>T	ENSP00000366875:p.Ile1107Phe						p.I1107F	NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3348	+			1107						Missense_Mutation	SNP	ENST00000377647.3	37	c.3319A>T	CCDS43808.1	.	.	.	.	.	.	.	.	.	.	A	6.328	0.428597	0.11987	.	.	ENSG00000204849	ENST00000377647	T	0.04551	3.6	1.95	0.786	0.18590	.	1.257310	0.05780	N	0.608510	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.21708	0.036	T	0.45205	-0.9277	10	0.56958	D	0.05	.	3.6959	0.08364	0.7965:0.0:0.2035:0.0	.	1107	Q5TZJ5	F75A1_HUMAN	F	1107	ENSP00000366875:I1107F	ENSP00000366875:I1107F	I	+	1	0	FAM75A1	39351081	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.819000	0.04462	0.232000	0.21100	0.113000	0.15668	ATT		0.478	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036910.1	NM_001085452		102	131	0	0	0	0.01441	0	102	131				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																							uc004adb.2		NA																	0					NA						c.(388-390)ATG>ATC		RecName: Full=Contactin-associated protein-like 3B.; Flags: Fragment;																																				SO:0001583	missense	0							g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M130I							4	415	+								B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.390G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	9	0	0	0	0.009096	0	3	9				
SPATA31A7	26165	broad.mit.edu	37	9	65508190	65508190	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:65508190G>T	ENST00000355045.2	-	2	221	c.193C>A	c.(193-195)Cca>Aca	p.P65T	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	65					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P65T(1)									CGCCCTACTGGACACTGGGAG	0.532																																							uc004adx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)CCA>ACA		hypothetical protein LOC26165							29.0	34.0	33.0					9																	65508190		1265	3269	4534	SO:0001583	missense	727905					integral to membrane		g.chr9:65508190G>T		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.193C>A	9.37:g.65508190G>T	ENSP00000347153:p.Pro65Thr						p.P65T	NM_015667	NP_056482	Q5VU36	F75A5_HUMAN			2	222	-			65					Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.193C>A	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408258	0.11754	.	.	ENSG00000234734	ENST00000355045	T	0.04119	3.7	1.58	1.58	0.23477	.	.	.	.	.	T	0.03739	0.0106	N	0.25647	0.755	0.09310	N	1	B	0.27625	0.183	B	0.30943	0.122	T	0.46386	-0.9195	9	0.18710	T	0.47	.	6.6467	0.22939	0.0:0.0:1.0:0.0	.	65	Q8IWB4	F75A7_HUMAN	T	65	ENSP00000347153:P65T	ENSP00000347153:P65T	P	-	1	0	FAM75A7	65248010	0.002000	0.14202	0.006000	0.13384	0.197000	0.23852	0.899000	0.28417	1.189000	0.43028	0.162000	0.16502	CCA		0.532	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667		43	149	1	0	1.48734e-19	0.013114	2.0735e-19	43	149				
PGM5	5239	broad.mit.edu	37	9	71098793	71098793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:71098793G>T	ENST00000396396.1	+	9	1537	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	436					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.E436D(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGACTATGAGGGGTTGGATC	0.488																																							uc004agr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1306-1308)GAG>GAT		phosphoglucomutase 5							90.0	83.0	85.0					9																	71098793		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098793G>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1308G>T	9.37:g.71098793G>T	ENSP00000379678:p.Glu436Asp						p.E436D	NM_021965	NP_068800	Q15124	PGM5_HUMAN			9	1537	+			436					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1308G>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691966	0.48097	.	.	ENSG00000154330	ENST00000396396	T	0.54279	0.58	5.75	0.557	0.17260	.	0.047232	0.85682	D	0.000000	T	0.55768	0.1941	M	0.88570	2.965	0.58432	D	0.999998	B	0.14438	0.01	B	0.17433	0.018	T	0.54735	-0.8249	10	0.72032	D	0.01	.	9.7579	0.40515	0.5709:0.0:0.4291:0.0	.	436	Q15124	PGM5_HUMAN	D	436	ENSP00000379678:E436D	ENSP00000379678:E436D	E	+	3	2	PGM5	70288613	1.000000	0.71417	0.951000	0.38953	0.977000	0.68977	1.585000	0.36600	-0.160000	0.11002	-0.136000	0.14681	GAG		0.488	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		9	41	1	0	3.09899e-07	0.004482	3.51083e-07	9	41				
SPATA31D1	389763	broad.mit.edu	37	9	84607486	84607486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:84607486G>T	ENST00000344803.2	+	4	2148	c.2101G>T	c.(2101-2103)Ggc>Tgc	p.G701C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	701					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G701C(2)									GCGCAGATGGGGCCTGCCCCG	0.478																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2101-2103)GGC>TGC		hypothetical protein LOC389763							66.0	64.0	64.0					9																	84607486		1846	4079	5925	SO:0001583	missense	389763					integral to membrane		g.chr9:84607486G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2101G>T	9.37:g.84607486G>T	ENSP00000341988:p.Gly701Cys						p.G701C	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2148	+			701						Missense_Mutation	SNP	ENST00000344803.2	37	c.2101G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483578	0.44147	.	.	ENSG00000214929	ENST00000344803	T	0.10573	2.86	3.51	2.59	0.31030	.	0.244557	0.29300	N	0.012556	T	0.30823	0.0777	M	0.82823	2.61	0.29845	N	0.828897	D	0.89917	1.0	D	0.79108	0.992	T	0.11470	-1.0586	10	0.72032	D	0.01	-7.5214	8.2427	0.31669	0.0:0.0:0.7626:0.2374	.	701	Q6ZQQ2	F75D1_HUMAN	C	701	ENSP00000341988:G701C	ENSP00000341988:G701C	G	+	1	0	FAM75D1	83797306	1.000000	0.71417	0.438000	0.26821	0.012000	0.07955	2.936000	0.48971	0.805000	0.34159	0.561000	0.74099	GGC		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	26	1	0	0.000157383	0.00308	0.000168394	6	26				
NOL8	55035	broad.mit.edu	37	9	95076672	95076672	+	Silent	SNP	C	C	A	rs369695092		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:95076672C>A	ENST00000535387.1	-	6	2234	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S	NOL8_ENST00000542053.1_Silent_p.S677S|NOL8_ENST00000442668.2_Silent_p.S745S|NOL8_ENST00000545558.1_Silent_p.S745S|NOL8_ENST00000358855.4_Silent_p.S677S					nucleolar protein 8									p.S747S(1)|p.S745S(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACATCTGACGAATTACTAA	0.438																																							uc004arv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2233-2235)TCG>TCT		nucleolar protein 8							89.0	80.0	83.0					9																	95076672		1922	4149	6071	SO:0001819	synonymous_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95076672C>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2235G>T	9.37:g.95076672C>A						NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.S677S	p.S745S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	2572	-			745						Silent	SNP	ENST00000535387.1	37	c.2235G>T	CCDS47993.1																																																																																				0.438	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		9	19	1	0	3.09899e-07	0.004482	3.51083e-07	9	19				
WNK2	65268	broad.mit.edu	37	9	96061494	96061494	+	Silent	SNP	G	G	T	rs371625188		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:96061494G>T	ENST00000297954.4	+	25	6177	c.6177G>T	c.(6175-6177)tcG>tcT	p.S2059S	WNK2_ENST00000349097.3_Silent_p.S1671S|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Silent_p.S2022S|WNK2_ENST00000427277.2_Silent_p.S1634S|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2059					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S2059S(1)|p.S2007S(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGTCTTCGGACATCTGCT	0.657																																							uc004ati.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(6175-6177)TCG>TCT		WNK lysine deficient protein kinase 2							39.0	35.0	36.0					9																	96061494		2202	4290	6492	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96061494G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6177G>T	9.37:g.96061494G>T						WNK2_uc011lud.1_Silent_p.S2022S|WNK2_uc004atj.2_Silent_p.S2022S|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Silent_p.S616S	p.S2059S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			25	6177	+			2059					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.6177G>T		.	.	.	.	.	.	.	.	.	.	G	8.706	0.910951	0.17833	.	.	ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718	.	.	.	5.54	-4.27	0.03744	.	.	.	.	.	T	0.36331	0.0963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37798	-0.9690	4	.	.	.	.	1.063	0.01604	0.3559:0.1851:0.3129:0.1461	.	.	.	.	L	2018;819;544	.	.	R	+	2	0	WNK2	95101315	0.817000	0.29147	0.988000	0.46212	0.996000	0.88848	-0.149000	0.10204	-0.554000	0.06150	-0.136000	0.14681	CGG		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		8	23	1	0	0.000673444	0.008291	0.000704609	8	23				
OR13C5	138799	broad.mit.edu	37	9	107361215	107361215	+	Silent	SNP	T	T	G	rs371079940		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:107361215T>G	ENST00000374779.2	-	1	573	c.480A>C	c.(478-480)acA>acC	p.T160T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCACAAACACTGTTTGTACTG	0.453																																							uc011lvp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(478-480)ACA>ACC		olfactory receptor, family 13, subfamily C,							184.0	163.0	170.0					9																	107361215		2203	4300	6503	SO:0001819	synonymous_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361215T>G		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.480A>C	9.37:g.107361215T>G							p.T160T	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	480	-			160			Helical; Name=4; (Potential).		B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	c.480A>C	CCDS35091.1																																																																																				0.453	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		21	62	0	0	0	0.003954	0	21	62				
FKTN	2218	broad.mit.edu	37	9	108380278	108380278	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:108380278G>C	ENST00000223528.2	+	8	1073	c.949G>C	c.(949-951)Gat>Cat	p.D317H	FKTN_ENST00000448551.2_Missense_Mutation_p.D317H|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.D317H|FKTN_ENST00000357998.5_Missense_Mutation_p.D317H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	317					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.D317H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTATAGCAAAGATGTTGACCT	0.294																																							uc004bcr.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(949-951)GAT>CAT		fukutin							37.0	37.0	37.0					9																	108380278		2202	4299	6501	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108380278G>C		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.949G>C	9.37:g.108380278G>C	ENSP00000223528:p.Asp317His					FKTN_uc011lvx.1_Missense_Mutation_p.D317H|FKTN_uc004bcs.2_Missense_Mutation_p.D317H|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Missense_Mutation_p.D185H	p.D317H	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			9	1165	+			317			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.949G>C	CCDS6766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.574493|4.574493	0.86542|0.86542	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000223528;ENST00000357998|ENST00000457847	D;D|D	0.99706|0.88818	-6.47;-6.47|-2.43	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.96331|0.96331	0.8803|0.8803	H|H	0.96889|0.96889	3.9|3.9	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.95116|0.95116	0.8242|0.8242	10|7	0.87932|0.22706	D|T	0|0.39	-16.5749|-16.5749	19.1011|19.1011	0.93274|0.93274	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	317;317|.	B4DUX9;O75072|.	.;FKTN_HUMAN|.	H|N	317|13	ENSP00000223528:D317H;ENSP00000350687:D317H|ENSP00000414114:K13N	ENSP00000223528:D317H|ENSP00000414114:K13N	D|K	+|+	1|3	0|2	FKTN|FKTN	107420099|107420099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.769000|8.769000	0.91742|0.91742	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|AAG		0.294	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		6	22	0	0	0	0.001168	0	6	22				
TLR4	7099	broad.mit.edu	37	9	120475528	120475528	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:120475528C>A	ENST00000355622.6	+	3	1223	c.1122C>A	c.(1120-1122)agC>agA	p.S374R	TLR4_ENST00000394487.4_Missense_Mutation_p.S334R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	374					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S374R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATCTACCAAGCCTTGAGTTTC	0.388																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1120-1122)AGC>AGA		toll-like receptor 4 precursor							52.0	55.0	54.0					9																	120475528		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475528C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1122C>A	9.37:g.120475528C>A	ENSP00000363089:p.Ser374Arg					TLR4_uc004bka.2_Missense_Mutation_p.S334R|TLR4_uc004bkb.2_Missense_Mutation_p.S174R	p.S374R	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1413	+			374			LRR 11.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1122C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	2.818	-0.245444	0.05906	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.25085	1.82;1.82	5.71	-3.94	0.04130	.	0.636913	0.16559	N	0.209111	T	0.19485	0.0468	M	0.64567	1.98	0.20563	N	0.999881	P	0.47962	0.903	P	0.45195	0.473	T	0.32161	-0.9917	10	0.12430	T	0.62	.	4.1159	0.10081	0.0995:0.3176:0.0983:0.4846	.	374	O00206	TLR4_HUMAN	R	334;374	ENSP00000377997:S334R;ENSP00000363089:S374R	ENSP00000363089:S374R	S	+	3	2	TLR4	119515349	0.000000	0.05858	0.005000	0.12908	0.381000	0.30169	-0.394000	0.07296	-0.595000	0.05828	-0.136000	0.14681	AGC		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		12	39	1	0	1.5842e-08	0.001855	1.86377e-08	12	39				
GPR21	2844	broad.mit.edu	37	9	125797349	125797349	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:125797349G>T	ENST00000373642.1	+	1	544	c.504G>T	c.(502-504)tgG>tgT	p.W168C	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	168					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.W168C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TTTTCCACTGGGGCAAACCTG	0.488																																							uc011lzk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)TGG>TGT		G protein-coupled receptor 21							141.0	126.0	131.0					9																	125797349		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797349G>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.504G>T	9.37:g.125797349G>T	ENSP00000362746:p.Trp168Cys					RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	p.W168C	NM_005294	NP_005285	Q99679	GPR21_HUMAN			1	504	+			168			Helical; Name=4; (Potential).		B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.504G>T	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178117	0.57692	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.39406	1.08	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.169432	0.42053	U	0.000763	T	0.73753	0.3627	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79754	-0.1670	10	0.87932	D	0	-5.8202	19.6115	0.95608	0.0:0.0:1.0:0.0	.	168	Q99679	GPR21_HUMAN	C	168	ENSP00000362746:W168C	ENSP00000362746:W168C	W	+	3	0	GPR21	124837170	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.476000	0.97823	2.631000	0.89168	0.563000	0.77884	TGG		0.488	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		31	68	1	0	4.34311e-12	0.003271	5.57633e-12	31	68				
GOLGA2	2801	broad.mit.edu	37	9	131020138	131020138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:131020138C>G	ENST00000421699.2	-	23	2473	c.2461G>C	c.(2461-2463)Gac>Cac	p.D821H	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D809H|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	821					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.D809H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCTTCAGGTCTGCCTTCTCC	0.567																																							uc011maw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2461-2463)GAC>CAC		Golgi autoantigen, golgin subfamily a, 2							293.0	288.0	290.0					9																	131020138		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131020138C>G	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2461G>C	9.37:g.131020138C>G	ENSP00000416097:p.Asp821His					GOLGA2_uc010mxw.2_Missense_Mutation_p.D144H|GOLGA2_uc004buh.2_Missense_Mutation_p.D294H	p.D821H	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			23	2474	-			821			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2461G>C	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	15.07	2.724865	0.48833	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	D	0.93811	-3.29	4.56	4.56	0.56223	.	0.186471	0.56097	D	0.000035	D	0.96787	0.8951	M	0.84948	2.725	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.68483	0.957;0.94;0.958	D	0.97593	1.0118	10	0.87932	D	0	.	17.5217	0.87789	0.0:1.0:0.0:0.0	.	821;439;105	Q08379;Q08379-2;Q5HYE0	GOGA2_HUMAN;.;.	H	821;105	ENSP00000416097:D821H	ENSP00000342692:D105H	D	-	1	0	GOLGA2	130059959	1.000000	0.71417	0.033000	0.17914	0.002000	0.02628	7.320000	0.79064	2.350000	0.79820	0.650000	0.86243	GAC		0.567	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		5	229	0	0	0	0.000602	0	5	229				
LAMC3	10319	broad.mit.edu	37	9	133945149	133945149	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:133945149G>C	ENST00000361069.4	+	17	3114	c.2981G>C	c.(2980-2982)tGt>tCt	p.C994S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	994	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.C994S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTACAAATGTGACCGCTGC	0.652																																							uc004caa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2980-2982)TGT>TCT		laminin, gamma 3 precursor							62.0	43.0	50.0					9																	133945149		2195	4297	6492	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133945149G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2981G>C	9.37:g.133945149G>C	ENSP00000354360:p.Cys994Ser						p.C994S	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	17	3079	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	994			Laminin EGF-like 11.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2981G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887532	0.91814	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	D	0.94280	-3.39	4.99	4.99	0.66335	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99850	1.1070	10	0.87932	D	0	.	17.3146	0.87220	0.0:0.0:1.0:0.0	.	994	Q9Y6N6	LAMC3_HUMAN	S	994	ENSP00000354360:C994S	ENSP00000347156:C994S	C	+	2	0	LAMC3	132934970	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.199000	0.95003	2.313000	0.78055	0.650000	0.86243	TGT		0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	5	0	0	0	0.004672	0	3	5				
SDCCAG3	10807	broad.mit.edu	37	9	139301807	139301807	+	Silent	SNP	G	G	A	rs371315205		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:139301807G>A	ENST00000357365.3	-	5	738	c.609C>T	c.(607-609)gcC>gcT	p.A203A	SDCCAG3_ENST00000371725.3_Silent_p.A130A|SDCCAG3_ENST00000298537.7_Silent_p.A180A|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	203						cytoplasm (GO:0005737)		p.A203A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GCGACGTGCCGGCAGGGACCC	0.637																																							uc004chi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(607-609)GCC>GCT		serologically defined colon cancer antigen 3		G	,,	0,4154		0,0,2077	17.0	21.0	20.0		609,390,540	0.7	0.0	9		20	2,8386		0,2,4192	no	coding-synonymous,coding-synonymous,coding-synonymous	SDCCAG3	NM_001039707.1,NM_001039708.1,NM_006643.3	,,	0,2,6269	AA,AG,GG		0.0238,0.0,0.0159	,,	203/436,130/363,180/413	139301807	2,12540	2077	4194	6271	SO:0001819	synonymous_variant	10807					cytoplasm		g.chr9:139301807G>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.609C>T	9.37:g.139301807G>A						SDCCAG3_uc004chj.2_Silent_p.A180A|SDCCAG3_uc004chk.2_Silent_p.A130A	p.A203A	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	5	814	-		Myeloproliferative disorder(178;0.0511)	203					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	ENST00000357365.3	37	c.609C>T	CCDS43904.1																																																																																				0.637	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		4	2	0	0	0	0.009096	0	4	2				
PNPLA7	375775	broad.mit.edu	37	9	140400120	140400120	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:140400120C>A	ENST00000277531.4	-	13	1530	c.1344G>T	c.(1342-1344)tcG>tcT	p.S448S	PNPLA7_ENST00000406427.1_Silent_p.S473S|PNPLA7_ENST00000371457.1_Silent_p.S54S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.S448S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGATGGCATCCGACTTCCTGC	0.612																																							uc004cnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1342-1344)TCG>TCT		patatin-like phospholipase domain containing 7							147.0	129.0	135.0					9																	140400120		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140400120C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1344G>T	9.37:g.140400120C>A						C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.S473S	p.S448S	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	13	1681	-	all_cancers(76;0.126)		448	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.1344G>T	CCDS7045.1																																																																																				0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		32	39	1	0	1.74807e-11	0.010818	2.21706e-11	32	39				
TLR8	51311	broad.mit.edu	37	X	12939284	12939284	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:12939284G>T	ENST00000218032.6	+	2	2212	c.2125G>T	c.(2125-2127)Gac>Tac	p.D709Y	TLR8_ENST00000311912.5_Missense_Mutation_p.D727Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	709					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.D727N(1)|p.D727Y(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TAGCCTATCTGACTTTACATC	0.433																																							uc004cve.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2125-2127)GAC>TAC		toll-like receptor 8 precursor							117.0	113.0	115.0					X																	12939284		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939284G>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2125G>T	X.37:g.12939284G>T	ENSP00000218032:p.Asp709Tyr					TLR8_uc004cvd.2_Missense_Mutation_p.D727Y	p.D709Y	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2193	+			709			LRR 21.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2125G>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	2.963	-0.214191	0.06101	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.79653	-1.29;-1.29	5.82	-5.14	0.02875	.	1.983950	0.02986	N	0.146272	T	0.65460	0.2693	L	0.33293	1	0.09310	N	1	P;P	0.42908	0.793;0.793	B;B	0.33846	0.171;0.171	T	0.62789	-0.6780	10	0.72032	D	0.01	.	5.4235	0.16413	0.3954:0.0937:0.4178:0.0932	.	709;727	Q9NR97;D1CS70	TLR8_HUMAN;.	Y	709;727	ENSP00000218032:D709Y;ENSP00000312082:D727Y	ENSP00000218032:D709Y	D	+	1	0	TLR8	12849205	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.413000	0.21148	-0.911000	0.03843	-0.912000	0.02778	GAC		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		27	15	1	0	6.32553e-13	0.004656	8.28533e-13	27	15				
CTPS2	56474	broad.mit.edu	37	X	16696555	16696555	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:16696555G>C	ENST00000443824.1	-	10	1767	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	CTPS2_ENST00000359276.4_Missense_Mutation_p.L342V|CTPS2_ENST00000380241.3_Missense_Mutation_p.L342V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	342	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.L342V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATCTTCTCCAGATCAATGGAG	0.403																																							uc004cxk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)CTG>GTG		cytidine triphosphate synthase II							98.0	76.0	84.0					X																	16696555		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16696555G>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1024C>G	X.37:g.16696555G>C	ENSP00000401264:p.Leu342Val					CTPS2_uc004cxl.2_Missense_Mutation_p.L342V|CTPS2_uc004cxm.2_Missense_Mutation_p.L342V	p.L342V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN			10	1768	-	Hepatocellular(33;0.0997)		342			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.1024C>G	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943029	0.53079	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207	D;D;D	0.90069	-2.61;-2.61;-2.61	5.86	5.0	0.66597	Glutamine amidotransferase type 1 (2);	0.000000	0.64402	D	0.000016	D	0.93374	0.7887	M	0.78223	2.4	0.58432	D	0.999999	D	0.61697	0.99	D	0.64877	0.93	D	0.92799	0.6255	10	0.42905	T	0.14	-11.2996	13.7429	0.62857	0.0762:0.0:0.9238:0.0	.	342	Q9NRF8	PYRG2_HUMAN	V	342;342;342;8	ENSP00000401264:L342V;ENSP00000369590:L342V;ENSP00000352222:L342V	ENSP00000352222:L342V	L	-	1	2	CTPS2	16606476	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.153000	0.42282	1.230000	0.43646	0.594000	0.82650	CTG		0.403	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		3	10	0	0	0	0.004672	0	3	10				
IL1RAPL1	11141	broad.mit.edu	37	X	29417357	29417357	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:29417357G>T	ENST00000378993.1	+	5	1308	c.635G>T	c.(634-636)gGa>gTa	p.G212V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G212V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	212	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.G212V(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GATGACATTGGAAATTATACC	0.343																																							uc004dby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(634-636)GGA>GTA		interleukin 1 receptor accessory protein-like 1							73.0	71.0	72.0					X																	29417357		2202	4294	6496	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417357G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.635G>T	X.37:g.29417357G>T	ENSP00000368278:p.Gly212Val						p.G212V	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			5	1143	+			212			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.635G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488048	0.84854	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	D;D	0.87571	-2.27;-2.27	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96627	0.9464	9	.	.	.	.	17.81	0.88612	0.0:0.0:1.0:0.0	.	212	Q9NZN1	IRPL1_HUMAN	V	212	ENSP00000368278:G212V;ENSP00000305200:G212V	.	G	+	2	0	IL1RAPL1	29327278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.426000	0.82243	0.523000	0.50628	GGA		0.343	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		11	10	1	0	0.00010058	0.013537	0.000108061	11	10				
PHF8	23133	broad.mit.edu	37	X	54020195	54020195	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:54020195C>T	ENST00000357988.5	-	13	1931	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	PHF8_ENST00000322659.8_Missense_Mutation_p.G489S|PHF8_ENST00000338946.6_Intron|PHF8_ENST00000338154.6_Missense_Mutation_p.G489S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	525					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.G489S(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCTTTGAACCATTTTTGGAG	0.562																																							uc004dsu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1573-1575)GGT>AGT		PHD finger protein 8							105.0	93.0	97.0					X																	54020195		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54020195C>T	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1573G>A	X.37:g.54020195C>T	ENSP00000350676:p.Gly525Ser					PHF8_uc004dst.2_Missense_Mutation_p.G489S|PHF8_uc004dsv.2_Missense_Mutation_p.G355S|PHF8_uc004dsw.2_Intron|PHF8_uc004dsx.2_Missense_Mutation_p.G253S|PHF8_uc004dsy.2_Missense_Mutation_p.G489S	p.G525S	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			13	1646	-			525					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.1573G>A	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.844|9.844|9.844	1.191885|1.191885|1.191885	0.21954|0.21954|0.21954	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000322659|ENST00000396282|ENST00000443302	T;T;T|.|.	0.21734|.|.	2.59;2.33;1.99|.|.	5.77|5.77|5.77	3.97|3.97|3.97	0.46021|0.46021|0.46021	.|.|.	0.610171|.|.	0.18282|.|.	N|.|.	0.145982|.|.	T|T|.	0.42877|0.42877|.	0.1222|0.1222|.	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B|.|.	0.09022|.|.	0.002;0.002;0.001|.|.	B;B;B|.|.	0.06405|.|.	0.002;0.002;0.001|.|.	T|T|.	0.22487|0.22487|.	-1.0215|-1.0215|.	10|5|.	0.07813|.|.	T|.|.	0.8|.|.	-1.5452|-1.5452|-1.5452	10.1343|10.1343|10.1343	0.42697|0.42697|0.42697	0.0:0.8216:0.0:0.1784|0.0:0.8216:0.0:0.1784|0.0:0.8216:0.0:0.1784	.|.|.	11;489;525|.|.	B3KMV4;Q9UPP1-2;Q9UPP1|.|.	.;.;PHF8_HUMAN|.|.	S|I|X	525;489;489|392|252	ENSP00000350676:G525S;ENSP00000338868:G489S;ENSP00000319473:G489S|.|.	ENSP00000319473:G489S|.|.	G|M|W	-|-|-	1|3|2	0|0|0	PHF8|PHF8|PHF8	54036920|54036920|54036920	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	1.568000|1.568000|1.568000	0.36418|0.36418|0.36418	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	GGT|ATG|TGG		0.562	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		22	11	0	0	0	0.014323	0	22	11				
ATP7A	538	broad.mit.edu	37	X	77301004	77301004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:77301004G>A	ENST00000341514.6	+	22	4316	c.4161G>A	c.(4159-4161)tgG>tgA	p.W1387*	ATP7A_ENST00000350425.4_Nonsense_Mutation_p.W390*|ATP7A_ENST00000343533.5_Nonsense_Mutation_p.W1309*	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1387					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.W1387*(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCAGCCCTGGATGGGATCTG	0.358																																							uc004ecx.3		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(4159-4161)TGG>TGA		ATPase, Cu++ transporting, alpha polypeptide							323.0	301.0	309.0					X																	77301004		2203	4296	6499	SO:0001587	stop_gained	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301004G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4161G>A	X.37:g.77301004G>A	ENSP00000345728:p.Trp1387*						p.W1387*	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			22	4321	+			1387			Helical; (Potential).		B1AT72|O00227|O00745|Q9BYY8	Nonsense_Mutation	SNP	ENST00000341514.6	37	c.4161G>A	CCDS35339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.046836|11.046836	0.99507|0.99507	.|.	.|.	ENSG00000165240|ENSG00000165240	ENST00000343912|ENST00000343533;ENST00000350425;ENST00000341514	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47040|.	0.1424|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40887|.	-0.9539|.	4|.	0.46703|0.02654	T|T	0.11|1	-3.3556|-3.3556	18.7761|18.7761	0.91912|0.91912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	70|1309;390;1387	.|.	ENSP00000342775:D70N|ENSP00000345728:W1387X	D|W	+|+	1|3	0|0	ATP7A|ATP7A	77187660|77187660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.288000|9.288000	0.96055|0.96055	2.380000|2.380000	0.81148|0.81148	0.600000|0.600000	0.82982|0.82982	GAT|TGG		0.358	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		54	42	0	0	0	0.01441	0	54	42				
NOX1	27035	broad.mit.edu	37	X	100117173	100117173	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:100117173C>T	ENST00000372966.3	-	7	996	c.791G>A	c.(790-792)gGg>gAg	p.G264E	NOX1_ENST00000372960.4_Missense_Mutation_p.G227E|NOX1_ENST00000217885.5_Missense_Mutation_p.G264E|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	264	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.G264E(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGGGGGATGCCCTTCAAACTT	0.453																																							uc004egj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)GGG>GAG		NADPH oxidase 1 isoform long							117.0	110.0	112.0					X																	100117173		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117173C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.791G>A	X.37:g.100117173C>T	ENSP00000362057:p.Gly264Glu					uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.G264E|NOX1_uc010nne.2_Missense_Mutation_p.G227E	p.G264E	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			7	997	-			264			Ferric oxidoreductase.|Extracellular (Potential).		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.791G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967386	0.18659	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95821	-3.71;-3.82;-3.81	4.34	3.47	0.39725	.	0.125404	0.52532	D	0.000074	D	0.96892	0.8985	M	0.80616	2.505	0.53688	D	0.999978	D;D;D	0.61697	0.986;0.99;0.982	P;D;P	0.64776	0.797;0.929;0.852	D	0.95959	0.8960	10	0.46703	T	0.11	-4.9002	10.64	0.45588	0.0:0.9011:0.0:0.0989	.	227;264;264	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	E	264;264;227	ENSP00000362057:G264E;ENSP00000217885:G264E;ENSP00000362051:G227E	ENSP00000217885:G264E	G	-	2	0	NOX1	100003829	0.995000	0.38212	0.650000	0.29550	0.062000	0.15995	5.225000	0.65294	0.966000	0.38159	0.600000	0.82982	GGG		0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		25	23	0	0	0	0.005443	0	25	23				
COL4A6	1288	broad.mit.edu	37	X	107422489	107422489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:107422489G>T	ENST00000372216.4	-	26	2414	c.2314C>A	c.(2314-2316)Cac>Aac	p.H772N	COL4A6_ENST00000545689.1_Missense_Mutation_p.H771N|COL4A6_ENST00000334504.7_Missense_Mutation_p.H771N|COL4A6_ENST00000394872.2_Missense_Mutation_p.H772N|COL4A6_ENST00000538570.1_Missense_Mutation_p.H771N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	772	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.H771N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AATCCTTTGTGCCCTGTTAAT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(2314-2316)CAC>AAC		type IV alpha 6 collagen isoform A precursor							108.0	90.0	96.0					X																	107422489		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107422489G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2314C>A	X.37:g.107422489G>T	ENSP00000361290:p.His772Asn					COL4A6_uc004env.3_Missense_Mutation_p.H771N|COL4A6_uc011msn.1_Missense_Mutation_p.H771N|COL4A6_uc010npk.2_Missense_Mutation_p.H771N	p.H772N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			26	2417	-			772			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2314C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	2.386	-0.340976	0.05243	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	4.59	3.73	0.42828	.	0.160649	0.29480	N	0.012040	D	0.87665	0.6234	N	0.11341	0.13	0.22266	N	0.999241	B;P;P;P	0.44877	0.395;0.845;0.636;0.583	B;P;B;B	0.47376	0.312;0.545;0.344;0.233	T	0.78927	-0.2011	10	0.14252	T	0.57	.	14.7364	0.69419	0.0:0.8577:0.1423:0.0	.	771;771;772;771	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	N	772;771;772;771;771;771	ENSP00000361290:H772N;ENSP00000334733:H771N;ENSP00000378340:H772N;ENSP00000443707:H771N;ENSP00000445236:H771N	ENSP00000334733:H771N	H	-	1	0	COL4A6	107309145	0.669000	0.27502	0.906000	0.35671	0.025000	0.11179	1.301000	0.33447	1.034000	0.39945	-0.274000	0.10170	CAC		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			14	18	1	0	0.000566183	0.00499	0.000597191	14	18				
COL4A6	1288	broad.mit.edu	37	X	107422492	107422492	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:107422492C>T	ENST00000372216.4	-	26	2411	c.2311G>A	c.(2311-2313)Ggg>Agg	p.G771R	COL4A6_ENST00000545689.1_Missense_Mutation_p.G770R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G770R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G771R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G770R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	771	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G770R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTGTGCCCTGTTAATCCT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(2311-2313)GGG>AGG		type IV alpha 6 collagen isoform A precursor							108.0	90.0	96.0					X																	107422492		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107422492C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2311G>A	X.37:g.107422492C>T	ENSP00000361290:p.Gly771Arg					COL4A6_uc004env.3_Missense_Mutation_p.G770R|COL4A6_uc011msn.1_Missense_Mutation_p.G770R|COL4A6_uc010npk.2_Missense_Mutation_p.G770R	p.G771R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			26	2414	-			771			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2311G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951288	0.34471	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	4.59	4.59	0.56863	.	0.000000	0.42053	D	0.000766	D	0.99816	0.9919	H	0.98507	4.25	0.49687	D	0.999813	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96515	0.9381	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	770;770;771;770	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	771;770;771;770;770;770	ENSP00000361290:G771R;ENSP00000334733:G770R;ENSP00000378340:G771R;ENSP00000443707:G770R;ENSP00000445236:G770R	ENSP00000334733:G770R	G	-	1	0	COL4A6	107309148	1.000000	0.71417	0.995000	0.50966	0.146000	0.21551	6.482000	0.73613	2.223000	0.72356	0.523000	0.50628	GGG		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			14	17	0	0	0	0.004007	0	14	17				
ZCCHC16	340595	broad.mit.edu	37	X	111698292	111698292	+	Silent	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:111698292C>A	ENST00000340433.2	+	1	566	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	112							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I112I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTTGTGGGATCATATCTGGGC	0.398																																							uc004epo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(334-336)ATC>ATA		zinc finger, CCHC domain containing 16							100.0	90.0	93.0					X																	111698292		2203	4300	6503	SO:0001819	synonymous_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111698292C>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.336C>A	X.37:g.111698292C>A							p.I112I	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	777	+			112					B2RPG1	Silent	SNP	ENST00000340433.2	37	c.336C>A	CCDS35369.1																																																																																				0.398	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		18	19	1	0	2.35188e-11	0.006122	2.96839e-11	18	19				
ZNF75D	7626	broad.mit.edu	37	X	134426361	134426361	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:134426361C>A	ENST00000370766.3	-	4	3159	c.450G>T	c.(448-450)ttG>ttT	p.L150F	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L150F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGTTCCTCCCAAGAGCACTG	0.507																																							uc004eyp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)TTG>TTT		zinc finger protein 75							86.0	77.0	80.0					X																	134426361		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134426361C>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.450G>T	X.37:g.134426361C>A	ENSP00000359802:p.Leu150Phe					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	p.L150F	NM_007131	NP_009062	P51815	ZN75D_HUMAN			4	3105	-			150					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.450G>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959259	0.18507	.	.	ENSG00000186376	ENST00000370766	T	0.07567	3.18	2.3	1.37	0.22104	Transcription regulator SCAN (1);	.	.	.	.	T	0.06234	0.0161	L	0.34521	1.04	0.36408	D	0.863555	B	0.21309	0.054	B	0.18263	0.021	T	0.20874	-1.0262	9	0.51188	T	0.08	.	5.4054	0.16318	0.3321:0.6679:0.0:0.0	.	150	P51815	ZN75D_HUMAN	F	150	ENSP00000359802:L150F	ENSP00000359802:L150F	L	-	3	2	ZNF75D	134254027	1.000000	0.71417	0.108000	0.21378	0.458000	0.32498	0.906000	0.28517	0.362000	0.24319	0.513000	0.50165	TTG		0.507	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		19	40	1	0	5.35267e-07	0.007413	6.02465e-07	19	40				
CNGA2	1260	broad.mit.edu	37	X	150912097	150912097	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:150912097G>A	ENST00000329903.4	+	6	1155	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	374					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.M374I(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTCCATGATCTCCAACA	0.517																																							uc004fey.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1120-1122)ATG>ATA		cyclic nucleotide gated channel alpha 2							122.0	114.0	117.0					X																	150912097		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912097G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1122G>A	X.37:g.150912097G>A	ENSP00000328478:p.Met374Ile						p.M374I	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1346	+	Acute lymphoblastic leukemia(192;6.56e-05)		374			Extracellular (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1122G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250985	0.59212	.	.	ENSG00000183862	ENST00000329903	D	0.97279	-4.32	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	L	0.46947	1.48	0.58432	D	0.999996	D	0.54964	0.969	D	0.63381	0.914	D	0.97808	1.0249	10	0.62326	D	0.03	.	14.8649	0.70406	0.0:0.0:1.0:0.0	.	374	Q16280	CNGA2_HUMAN	I	374	ENSP00000328478:M374I	ENSP00000328478:M374I	M	+	3	0	CNGA2	150662753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.183000	0.69458	0.529000	0.55759	ATG		0.517	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		14	30	0	0	0	0.00499	0	14	30				
CSAG1	158511	broad.mit.edu	37	X	151908930	151908930	+	Splice_Site	SNP	C	C	T			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chrX:151908930C>T	ENST00000370287.3	+	4	495		c.e4+2		CSAG1_ENST00000370291.2_Nonsense_Mutation_p.R57*|CSAG1_ENST00000452779.2_Splice_Site	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1									p.?(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAAGAGGCGAGGAAGGGG	0.552																																							uc004fge.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e4+2		chondrosarcoma associated gene 1 precursor							217.0	198.0	204.0					X																	151908930		2203	4300	6503	SO:0001630	splice_region_variant	158511							g.chrX:151908930C>T	AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.167+2C>T	X.37:g.151908930C>T						CSAG1_uc004fgf.2_Splice_Site_p.R56_splice|CSAG1_uc004fgd.2_Splice_Site	p.R56_splice	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN			4	495	+	Acute lymphoblastic leukemia(192;6.56e-05)							A6NE22	Splice_Site	SNP	ENST00000370287.3	37	c.167_splice	CCDS14711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|C	0.008|0.008	-1.909249|-1.909249	0.00508|0.00508	.|.	.|.	ENSG00000198930|ENSG00000198930	ENST00000370287;ENST00000452779|ENST00000370291	.|.	.|.	.|.	0.837|0.837	-1.67|-1.67	0.08238|0.08238	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24415|0.24415	N|N	0.994644|0.994644	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|X	-1|57	.|.	.|.	.|R	+|+	.|1	.|2	CSAG1|CSAG1	151659586|151659586	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.799000|-3.799000	0.00363|0.00363	-2.708000|-2.708000	0.00395|0.00395	-2.920000|-2.920000	0.00090|0.00090	.|CGA		0.552	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479	Intron	30	67	0	0	0	0.009535	0	30	67				
UNC45B	146862	broad.mit.edu	37	17	33510550	33510550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr17:33510550delG	ENST00000268876.5	+	19	2581	c.2484delG	c.(2482-2484)ctgfs	p.L828fs	UNC45B_ENST00000378449.1_Frame_Shift_Del_p.L747fs|UNC45B_ENST00000394570.2_Frame_Shift_Del_p.L826fs|UNC45B_ENST00000433649.1_Frame_Shift_Del_p.L826fs|UNC45B_ENST00000591048.1_Frame_Shift_Del_p.L747fs	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	828					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGGGGCTCTGGCCATGCTGA	0.587																																							uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(2482-2484)CTGfs		cardiomyopathy associated 4 isoform 1							102.0	84.0	90.0					17																	33510550		2203	4300	6503	SO:0001589	frameshift_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33510550delG	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2484delG	17.37:g.33510550delG	ENSP00000268876:p.Leu828fs					UNC45B_uc002hjb.2_Frame_Shift_Del_p.L826fs|UNC45B_uc002hjc.2_Frame_Shift_Del_p.L826fs|UNC45B_uc010cto.2_Frame_Shift_Del_p.L747fs	p.L828fs	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			19	2581	+		Ovarian(249;0.17)	828					Q495Q8|Q495Q9	Frame_Shift_Del	DEL	ENST00000268876.5	37	c.2484delG	CCDS11292.1																																																																																				0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		19	24	NA	NA	NA	NA	NA	19	24	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58101828	58101828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr19:58101828delG	ENST00000597850.1	+	4	864	c.649delG	c.(649-651)gggfs	p.G217fs	ZIK1_ENST00000536878.2_Frame_Shift_Del_p.G204fs|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Frame_Shift_Del_p.G162fs	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGTGAATGTGGGAAGGCTTC	0.478																																							uc002qpg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(649-651)GGGfs		zinc finger protein interacting with K protein							69.0	68.0	69.0					19																	58101828		2203	4300	6503	SO:0001589	frameshift_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101828delG	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.649delG	19.37:g.58101828delG	ENSP00000472867:p.Gly217fs					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Frame_Shift_Del_p.G162fs|ZIK1_uc002qpi.2_Frame_Shift_Del_p.G204fs|ZIK1_uc002qpj.2_Frame_Shift_Del_p.G114fs	p.G217fs	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	746	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	217					O43339|Q3SY51|Q3SY53	Frame_Shift_Del	DEL	ENST00000597850.1	37	c.649delG	CCDS33135.1																																																																																				0.478	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		30	20	NA	NA	NA	NA	NA	30	20	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085218	80085218	+	Frame_Shift_Del	DEL	G	G	-	rs372587283		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:80085218delG	ENST00000402739.4	+	3	383	c.378delG	c.(376-378)gcgfs	p.A127fs	CTNNA2_ENST00000466387.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000541047.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000496558.1_Frame_Shift_Del_p.A127fs|CTNNA2_ENST00000361291.4_Frame_Shift_Del_p.A161fs|CTNNA2_ENST00000540488.1_Frame_Shift_Del_p.A127fs	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	127					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGTACGGGCGGCAAGGGCTT	0.552																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(376-378)GCGfs		catenin, alpha 2 isoform 1							86.0	84.0	85.0					2																	80085218		2058	4192	6250	SO:0001589	frameshift_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085218delG		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.378delG	2.37:g.80085218delG	ENSP00000384638:p.Ala127fs					CTNNA2_uc010yse.1_Frame_Shift_Del_p.A126fs|CTNNA2_uc010ysf.1_Frame_Shift_Del_p.A126fs|CTNNA2_uc010ysg.1_Frame_Shift_Del_p.A126fs	p.A126fs	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	383	+			126					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Frame_Shift_Del	DEL	ENST00000402739.4	37	c.378delG																																																																																					0.552	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		31	56	NA	NA	NA	NA	NA	31	56	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242142823	242142824	+	Frame_Shift_Del	DEL	GC	GC	-	rs375507696		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr2:242142823_242142824delGC	ENST00000274979.8	+	9	1064_1065	c.961_962delGC	c.(961-963)gcgfs	p.A321fs	ANO7_ENST00000402430.3_Frame_Shift_Del_p.A320fs	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	321					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCAGCACTGGGCGCGCTGGGGC	0.683																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(961-963)GCGfs		transmembrane protein 16G isoform NGEP long																																				SO:0001589	frameshift_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142823_242142824delGC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.961_962delGC	2.37:g.242142827_242142828delGC	ENSP00000274979:p.Ala321fs						p.A321fs	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			9	1064_1065	+			321			Cytoplasmic (Potential).		Q6IWH6	Frame_Shift_Del	DEL	ENST00000274979.8	37	c.961_962delGC	CCDS33423.1																																																																																				0.683	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		7	19	NA	NA	NA	NA	NA	7	19	---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47887580	47887581	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr4:47887580_47887581insA	ENST00000507489.1	-	14	1934_1935	c.1758_1759insT	c.(1756-1761)ttggagfs	p.E587fs	NFXL1_ENST00000381538.3_Frame_Shift_Ins_p.E587fs|NFXL1_ENST00000329043.3_Frame_Shift_Ins_p.E587fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	587						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCACATTTCTCCAAAACTTTTT	0.406																																							uc010igh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1756-1761)TTGGAGfs		nuclear transcription factor, X-box binding-like																																				SO:0001589	frameshift_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47887580_47887581insA	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1758_1759insT	4.37:g.47887580_47887581insA	ENSP00000422037:p.Glu587fs					NFXL1_uc003gxp.2_Frame_Shift_Ins_p.L586fs|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Frame_Shift_Ins_p.L586fs	p.L586fs	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			14	1935_1936	-			586_587					B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Ins	INS	ENST00000507489.1	37	c.1758_1759insT	CCDS3478.2																																																																																				0.406	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		18	85	NA	NA	NA	NA	NA	18	85	---	---	---	---
THOC3	84321	broad.mit.edu	37	5	175394224	175394234	+	Frame_Shift_Del	DEL	AGCTGGTCCAC	AGCTGGTCCAC	-	rs62390006		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	AGCTGGTCCAC	AGCTGGTCCAC	-	-	AGCTGGTCCAC	AGCTGGTCCAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr5:175394224_175394234delAGCTGGTCCAC	ENST00000265097.4	-	2	394_404	c.304_314delGTGGACCAGCT	c.(304-315)gtggaccagcttfs	p.VDQL102fs	THOC3_ENST00000513482.1_Frame_Shift_Del_p.VDQL102fs|THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'UTR	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	102					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ATGCCAACAAAGCTGGTCCACACTATCCCCA	0.441																																							uc003mdg.3		NA																	0					0						c.(304-315)GTGGACCAGCTTfs		THO complex 3																																				SO:0001589	frameshift_variant	84321				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding	g.chr5:175394224_175394234delAGCTGGTCCAC	BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.304_314delGTGGACCAGCT	5.37:g.175394224_175394234delAGCTGGTCCAC	ENSP00000265097:p.Val102fs					THOC3_uc003mdh.2_Frame_Shift_Del_p.V129fs	p.V102fs	NM_032361	NP_115737	Q96J01	THOC3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	2	638_648	-	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	102_105			WD 2.		Q6NZ53	Frame_Shift_Del	DEL	ENST00000265097.4	37	c.304_314delGTGGACCAGCT	CCDS4397.1																																																																																				0.441	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1			7	12	NA	NA	NA	NA	NA	7	12	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148281	27148282	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:27148281_27148282delGC	ENST00000396352.4	-	3	783_784	c.584_585delGC	c.(583-585)cgcfs	p.R195fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	195					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTAGGCCGTGCGCGCGCGCTT	0.683																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NA																	0				breast(2)	2						c.(583-585)CGCfs		homeobox A3 isoform a																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148281_27148282delGC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.584_585delGC	7.37:g.27148289_27148290delGC	ENSP00000379640:p.Arg195fs					HOXA3_uc011jzk.1_Frame_Shift_Del_p.R37fs|HOXA3_uc003syk.2_Frame_Shift_Del_p.R195fs	p.R195fs	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	784_785	-			195			Homeobox.		A4D181	Frame_Shift_Del	DEL	ENST00000396352.4	37	c.584_585delGC	CCDS5404.1																																																																																				0.683	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			36	84	NA	NA	NA	NA	NA	36	84	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131831322	131831322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr7:131831322delG	ENST00000359827.3	-	28	5964	c.5002delC	c.(5002-5004)cggfs	p.R1668fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.R1668fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1668					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1668W(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTCCCCCGGTCCCCCTCC	0.572																																							uc003vra.3		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(5002-5004)CGGfs		plexin A4 isoform 1							202.0	216.0	211.0					7																	131831322		2182	4298	6480	SO:0001589	frameshift_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831322delG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5002delC	7.37:g.131831322delG	ENSP00000352882:p.Arg1668fs					PLXNA4_uc003vqz.3_5'Flank	p.R1668fs	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			28	5231	-			1668			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Frame_Shift_Del	DEL	ENST00000359827.3	37	c.5002delC	CCDS43646.1																																																																																				0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		231	242	NA	NA	NA	NA	NA	231	242	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486054	94486072	+	Frame_Shift_Del	DEL	TGCTCTGGGCCCCATCTTC	TGCTCTGGGCCCCATCTTC	-	rs367647446		TCGA-05-5428-01A-01D-1625-08	TCGA-05-5428-10A-01D-1625-08	TGCTCTGGGCCCCATCTTC	TGCTCTGGGCCCCATCTTC	-	-	TGCTCTGGGCCCCATCTTC	TGCTCTGGGCCCCATCTTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7744a93b-0565-4d83-afad-caa02358f258	dec1c310-fc25-46c5-9151-0edf5a725adc	g.chr9:94486054_94486072delTGCTCTGGGCCCCATCTTC	ENST00000375708.3	-	9	2902_2920	c.2704_2722delGAAGATGGGGCCCAGAGCA	c.(2704-2724)gaagatggggcccagagcaccfs	p.EDGAQST902fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	902					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.G904W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCTGCACGGTGCTCTGGGCCCCATCTTCTGGGGCGTTC	0.635																																							uc004arj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2704-2724)GAAGATGGGGCCCAGAGCACCfs		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001589	frameshift_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486054_94486072delTGCTCTGGGCCCCATCTTC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2704_2722delGAAGATGGGGCCCAGAGCA	9.37:g.94486054_94486072delTGCTCTGGGCCCCATCTTC	ENSP00000364860:p.Glu902fs					ROR2_uc004ari.1_Intron	p.E902fs	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2903_2921	-			902_908			Cytoplasmic (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Del	DEL	ENST00000375708.3	37	c.2704_2722delGAAGATGGGGCCCAGAGCA	CCDS6691.1																																																																																				0.635	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	93	NA	NA	NA	NA	NA	8	93	---	---	---	---
