#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
SCNN1D	6339	broad.mit.edu	37	1	1226700	1226700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:1226700C>T	ENST00000338555.2	+	15	2771	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	SCNN1D_ENST00000400928.3_Missense_Mutation_p.L543F|SCNN1D_ENST00000325425.8_Missense_Mutation_p.L609F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.L707F			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	543					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CGTCCTCTCCCTCCTGGAGCT	0.721																																						uc001adu.1		NaN																	0					0						c.(1627-1629)CTC>TTC		sodium channel, nonvoltage-gated 1, delta							18.0	15.0	16.0					1																	1226700		2152	4229	6381	SO:0001583	missense	6339							g.chr1:1226700C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1627C>T	1.37:g.1226700C>T	ENSP00000339504:p.Leu543Phe					SCNN1D_uc001adt.1_Missense_Mutation_p.L707F|SCNN1D_uc001adw.2_Missense_Mutation_p.L609F|SCNN1D_uc001adx.2_Missense_Mutation_p.L332F|SCNN1D_uc001adv.2_Missense_Mutation_p.L543F	p.L543F	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	17	2251	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1627C>T		.	.	.	.	.	.	.	.	.	.	C	9.553	1.116424	0.20795	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.08	2.15	0.27550	.	0.146626	0.29348	U	0.012419	T	0.65533	0.2700	L	0.47016	1.485	0.09310	N	1	P;D;D	0.59767	0.918;0.986;0.969	B;P;P	0.55923	0.42;0.787;0.483	T	0.59783	-0.7389	10	0.87932	D	0	.	11.5415	0.50669	0.0:0.3961:0.6039:0.0	.	365;543;707	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	F	574;707;543;609;543	ENSP00000368411:L707F;ENSP00000339504:L543F;ENSP00000321594:L609F;ENSP00000383717:L543F	ENSP00000321594:L609F	L	+	1	0	SCNN1D	1216563	0.000000	0.05858	0.004000	0.12327	0.685000	0.39939	0.353000	0.20130	0.370000	0.24538	0.305000	0.20034	CTC		0.721	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		5	21	0	0	0	0.014758	0	5	21		
ARID1A	8289	broad.mit.edu	37	1	27106539	27106539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:27106539G>A	ENST00000324856.7	+	20	6521	c.6150G>A	c.(6148-6150)tgG>tgA	p.W2050*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W378*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1833*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1667*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2050					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTGGTGGTGGGACTGCTTGG	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6148-6150)TGG>TGA		AT rich interactive domain 1A isoform a							153.0	152.0	152.0					1																	27106539		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106539G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6150G>A	1.37:g.27106539G>A	ENSP00000320485:p.Trp2050*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1833*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W896*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W378*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W292*	p.W2050*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6523	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2050					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.6150G>A	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.585179|10.585179	0.99432|0.99432	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46639|.	0.1403|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	4|.	.|0.02654	.|T	.|1	-4.8573|-4.8573	18.8481|18.8481	0.92215|0.92215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	947|2050;1833;1667;378	.|.	.|ENSP00000320485:W2050X	G|W	+|+	1|3	0|0	ARID1A|ARID1A	26979126|26979126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.413000|9.413000	0.97351|0.97351	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		54	49	0	0	0	0.139131	0	54	49		
SNIP1	79753	broad.mit.edu	37	1	38018319	38018319	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:38018319G>A	ENST00000296215.6	-	2	326	c.254C>T	c.(253-255)tCa>tTa	p.S85L	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	85	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCTTCTCCCTGAGGCCTTGTT	0.458																																						uc001cbi.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(253-255)TCA>TTA		Smad nuclear interacting protein							279.0	253.0	262.0					1																	38018319		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38018319G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.254C>T	1.37:g.38018319G>A	ENSP00000296215:p.Ser85Leu					SNIP1_uc010oid.1_RNA	p.S85L	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			2	327	-		Myeloproliferative disorder(586;0.0393)	85			Arg-rich.		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.254C>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096055	0.56075	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.15718	2.4	5.53	4.43	0.53597	.	0.627039	0.15492	N	0.259486	T	0.12475	0.0303	L	0.29908	0.895	0.23050	N	0.998378	B	0.25667	0.131	B	0.21546	0.035	T	0.10847	-1.0612	10	0.31617	T	0.26	-21.147	10.1415	0.42738	0.1051:0.0:0.8949:0.0	.	85	Q8TAD8	SNIP1_HUMAN	L	85;69	ENSP00000296215:S85L	ENSP00000296215:S85L	S	-	2	0	SNIP1	37790906	0.998000	0.40836	0.909000	0.35828	0.979000	0.70002	2.611000	0.46334	2.613000	0.88420	0.591000	0.81541	TCA		0.458	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2		NM_024700		82	162	0	0	0	0.139131	0	82	162		
FPGT	8790	broad.mit.edu	37	1	74670509	74670509	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:74670509G>A	ENST00000609362.1	+	4	815	c.778G>A	c.(778-780)Gat>Aat	p.D260N	FPGT_ENST00000370894.5_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D273N|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	260					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGACATTGCCGATCTTAAATT	0.358																																						uc001dgb.1		NaN																	0				skin(1)	1						c.(778-780)GAT>AAT		fucose-1-phosphate guanyltransferase							41.0	42.0	42.0					1																	74670509		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670509G>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.778G>A	1.37:g.74670509G>A	ENSP00000476680:p.Asp260Asn					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.D260N	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	815	+			260					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.778G>A	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.808511	0.00074	.	.	ENSG00000254685	ENST00000370898	T	0.30182	1.54	5.57	-1.25	0.09405	L-fucokinase (1);	.	.	.	.	T	0.03011	0.0089	N	0.05078	-0.115	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.42666	-0.9438	8	.	.	.	.	2.0209	0.03509	0.272:0.0718:0.2947:0.3614	.	260	O14772	FPGT_HUMAN	N	260	ENSP00000359935:D260N	.	D	+	1	0	TNNI3K	74443097	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.578000	0.23773	0.083000	0.17047	-1.482000	0.00985	GAT		0.358	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					29	60	0	0	0	0.116897	0	29	60		
F5	2153	broad.mit.edu	37	1	169487767	169487767	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:169487767C>G	ENST00000367797.3	-	23	6429	c.6228G>C	c.(6226-6228)aaG>aaC	p.K2076N	F5_ENST00000367796.3_Missense_Mutation_p.K2081N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2076	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTTTTCTATCTTTCCATTTT	0.448																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6226-6228)AAG>AAC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						144.0	141.0	142.0					1																	169487767		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169487767C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6228G>C	1.37:g.169487767C>G	ENSP00000356771:p.Lys2076Asn						p.K2076N	NM_000130	NP_000121	P12259	FA5_HUMAN			23	6373	-	all_hematologic(923;0.208)		2076			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6228G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451578	0.26074	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.82619	-1.63;-1.63	5.63	2.73	0.32206	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.552383	0.19317	N	0.117229	T	0.57902	0.2085	L	0.42529	1.33	0.23649	N	0.997202	B	0.13594	0.008	B	0.09377	0.004	T	0.45789	-0.9237	9	0.39692	T	0.17	-8.4117	5.575	0.17218	0.1362:0.6391:0.0:0.2247	.	2076	P12259	FA5_HUMAN	N	2076;2081	ENSP00000356771:K2076N;ENSP00000356770:K2081N	ENSP00000356770:K2081N	K	-	3	2	F5	167754391	0.117000	0.22190	1.000000	0.80357	0.985000	0.73830	-0.049000	0.11924	0.749000	0.32854	0.585000	0.79938	AAG		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		5	40	0	0	0	0.021553	0	5	40		
IPO9	55705	broad.mit.edu	37	1	201828120	201828120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:201828120C>T	ENST00000361565.4	+	13	1535	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	489					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTCAACCTCTCAGGTATGTTT	0.463																																						uc001gwz.2		NaN																	0				ovary(2)	2						c.(1465-1467)TCA>TTA		importin 9							95.0	87.0	89.0					1																	201828120		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201828120C>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1466C>T	1.37:g.201828120C>T	ENSP00000354742:p.Ser489Leu						p.S489L	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			13	1516	+			489					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1466C>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369154	0.82463	.	.	ENSG00000198700	ENST00000361565	T	0.69175	-0.38	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.169529	0.53938	D	0.000049	T	0.65396	0.2687	L	0.59436	1.845	0.58432	D	0.999999	B	0.15930	0.015	B	0.15870	0.014	T	0.58758	-0.7580	10	0.36615	T	0.2	-12.6198	17.867	0.88797	0.0:1.0:0.0:0.0	.	489	Q96P70	IPO9_HUMAN	L	489	ENSP00000354742:S489L	ENSP00000354742:S489L	S	+	2	0	IPO9	200094743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.633000	0.67825	2.809000	0.96659	0.650000	0.86243	TCA		0.463	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1		NM_018085		14	39	0	0	0	0.105934	0	14	39		
TP53BP2	7159	broad.mit.edu	37	1	223984139	223984139	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:223984139C>T	ENST00000343537.7	-	13	2393	c.2102G>A	c.(2101-2103)cGg>cAg	p.R701Q	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R572Q|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	695					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCTGAGTGGCCGAGGAATTCT	0.448																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(2101-2103)CGG>CAG		tumor protein p53 binding protein, 2 isoform 1							133.0	130.0	131.0					1																	223984139		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223984139C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2102G>A	1.37:g.223984139C>T	ENSP00000341957:p.Arg701Gln					TP53BP2_uc001hod.2_Missense_Mutation_p.R572Q|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.R340Q	p.R701Q	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2394	-			695					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2102G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.817542	0.96982	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.78364	-1.17;-0.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.87752	0.2592	10	0.87932	D	0	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	701;695	B4DG66;Q13625	.;ASPP2_HUMAN	Q	572;701	ENSP00000375750:R572Q;ENSP00000341957:R701Q	ENSP00000341957:R701Q	R	-	2	0	TP53BP2	222050762	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CGG		0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		91	102	0	0	0	0.139131	0	91	102		
CYP26C1	340665	broad.mit.edu	37	10	94821038	94821038	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:94821038G>A	ENST00000285949.5	+	1	18	c.18G>A	c.(16-18)ctG>ctA	p.L6L	RP11-348J12.2_ENST00000444965.1_RNA	NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	6					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTTGGGGGCTGAGCTGCCTGT	0.711																																						uc010qns.1		NaN																	0				central_nervous_system(1)	1						c.(16-18)CTG>CTA		cytochrome P450, family 26, subfamily C,							8.0	10.0	9.0					10																	94821038		2183	4263	6446	SO:0001819	synonymous_variant	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94821038G>A		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.18G>A	10.37:g.94821038G>A						CYP26C1_uc009xud.2_RNA	p.L6L	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			1	18	+		Colorectal(252;0.122)	6					Q5VXH6	Silent	SNP	ENST00000285949.5	37	c.18G>A	CCDS7425.1																																																																																				0.711	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2		NM_183374		6	4	0	0	0	0.021553	0	6	4		
C10orf12	26148	broad.mit.edu	37	10	98743230	98743230	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:98743230G>A	ENST00000286067.2	+	1	2190	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	695										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAGATGATGAGAGTGATGC	0.517																																						uc001kmv.2		NaN																	0				skin(2)	2						c.(2083-2085)GAG>AAG		hypothetical protein LOC26148							76.0	68.0	70.0					10																	98743230		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743230G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2083G>A	10.37:g.98743230G>A	ENSP00000286067:p.Glu695Lys						p.E695K	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2190	+		Colorectal(252;0.172)	695					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2083G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707496	0.03230	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.06449	3.3	4.28	-0.805	0.10879	.	1.189050	0.06587	U	0.751275	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.44375	-0.9332	10	0.06365	T	0.9	0.0085	5.3304	0.15930	0.3156:0.1369:0.5475:0.0	.	695	Q8N655	CJ012_HUMAN	K	695;529	ENSP00000286067:E695K	ENSP00000286067:E695K	E	+	1	0	C10orf12	98733220	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.763000	0.26517	-0.129000	0.11620	0.561000	0.74099	GAG		0.517	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1		NM_015652		14	55	0	0	0	0.105934	0	14	55		
ABCC2	1244	broad.mit.edu	37	10	101571351	101571351	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:101571351A>T	ENST00000370449.4	+	15	2072	c.1959A>T	c.(1957-1959)acA>acT	p.T653T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	653	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CGGAAGCCACAGTCCGAGAGT	0.453																																						uc001kqf.2		NaN																	0				ovary(1)	1						c.(1957-1959)ACA>ACT		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						150.0	125.0	134.0					10																	101571351		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101571351A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1959A>T	10.37:g.101571351A>T							p.T653T	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	15	2098	+		Colorectal(252;0.234)	653			Cytoplasmic (By similarity).|ABC transporter 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.1959A>T	CCDS7484.1																																																																																				0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1		NM_000392		36	37	0	0	0	0.086207	0	36	37		
ANO5	203859	broad.mit.edu	37	11	22249087	22249087	+	Silent	SNP	C	C	T	rs182532539		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:22249087C>T	ENST00000324559.8	+	7	920	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	201					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCCTCATCGAAGATCAGG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18085	0.001		0.0	False		,,,				2504	0.0					uc001mqi.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(601-603)ATC>ATT		anoctamin 5 isoform a							99.0	98.0	98.0					11																	22249087		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249087C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.603C>T	11.37:g.22249087C>T						ANO5_uc001mqj.2_Silent_p.I200I	p.I201I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	920	+			201			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.603C>T	CCDS31444.1																																																																																				0.453	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1		NM_213599		25	61	0	0	0	0.076483	0	25	61		
FIBIN	387758	broad.mit.edu	37	11	27016101	27016101	+	Missense_Mutation	SNP	A	A	C	rs370374525		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:27016101A>C	ENST00000318627.2	+	1	474	c.28A>C	c.(28-30)Agt>Cgt	p.S10R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	10						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCTGCATGAGTTTCTTCTG	0.527																																						uc001mrd.2		NaN																	0					0						c.(28-30)AGT>CGT		fin bud initiation factor homolog precursor							93.0	92.0	92.0					11																	27016101		2203	4299	6502	SO:0001583	missense	387758					extracellular region|Golgi apparatus		g.chr11:27016101A>C	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.28A>C	11.37:g.27016101A>C	ENSP00000321962:p.Ser10Arg						p.S10R	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	474	+			10						Missense_Mutation	SNP	ENST00000318627.2	37	c.28A>C	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296009	0.23650	.	.	ENSG00000176971	ENST00000318627	.	.	.	6.07	-0.333	0.12671	.	0.312643	0.34025	N	0.004327	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.22601	0.04	T	0.26573	-1.0099	9	0.54805	T	0.06	-16.369	10.8568	0.46804	0.3952:0.0:0.6048:0.0	.	10	Q8TAL6	FIBIN_HUMAN	R	10	.	ENSP00000321962:S10R	S	+	1	0	FIBIN	26972677	0.975000	0.34042	0.670000	0.29842	0.662000	0.39071	0.530000	0.23036	0.117000	0.18138	-0.256000	0.11100	AGT		0.527	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1		NM_203371		36	25	0	0	0	0.09836	0	36	25		
OR5M8	219484	broad.mit.edu	37	11	56258428	56258428	+	Missense_Mutation	SNP	C	C	A	rs367675550		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:56258428C>A	ENST00000327216.2	-	1	443	c.419G>T	c.(418-420)tGc>tTc	p.C140F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAGGAAGGAGCACACACTCTT	0.522																																						uc001nix.1		NaN																	0				central_nervous_system(1)	1						c.(418-420)TGC>TTC		olfactory receptor, family 5, subfamily M,		C	PHE/CYS	1,4401	2.1+/-5.4	0,1,2200	100.0	85.0	91.0		419	4.4	0.2	11		91	0,8592		0,0,4296	no	missense	OR5M8	NM_001005282.1	205	0,1,6496	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	140/312	56258428	1,12993	2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258428C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.419G>T	11.37:g.56258428C>A	ENSP00000323354:p.Cys140Phe						p.C140F	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	419	-	Esophageal squamous(21;0.00352)		140			Helical; Name=4; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.419G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808589	0.31961	2.27E-4	0.0	ENSG00000181371	ENST00000327216	T	0.00220	8.52	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000535	T	0.00784	0.0026	M	0.92459	3.31	0.42300	D	0.992176	D	0.89917	1.0	D	0.97110	1.0	T	0.62534	-0.6834	10	0.87932	D	0	-28.1033	14.9234	0.70856	0.0:1.0:0.0:0.0	.	140	Q8NGP6	OR5M8_HUMAN	F	140	ENSP00000323354:C140F	ENSP00000323354:C140F	C	-	2	0	OR5M8	56015004	0.000000	0.05858	0.158000	0.22627	0.048000	0.14542	-0.022000	0.12480	2.157000	0.67596	0.638000	0.83543	TGC		0.522	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1		NM_001005282		29	44	1	0	1.17739e-12	0.108266	1.29397e-12	29	44		
CTSW	1521	broad.mit.edu	37	11	65649734	65649734	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:65649734G>A	ENST00000307886.3	+	4	421	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CTSW_ENST00000528419.1_Silent_p.E125E	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	125					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AAGAGCCAGAGGAGTCAGTAC	0.582																																						uc001ogc.1		NaN																	0				central_nervous_system(1)	1						c.(373-375)GAG>GAA		cathepsin W preproprotein							86.0	88.0	87.0					11																	65649734		2201	4296	6497	SO:0001819	synonymous_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65649734G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.375G>A	11.37:g.65649734G>A						CTSW_uc001ogb.1_Silent_p.E125E	p.E125E	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	4	417	+			125					Q86VT4	Silent	SNP	ENST00000307886.3	37	c.375G>A	CCDS8117.1																																																																																				0.582	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1		NM_001335		21	120	0	0	0	0.069288	0	21	120		
FAT3	120114	broad.mit.edu	37	11	92623737	92623737	+	Missense_Mutation	SNP	G	G	A	rs370311816		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:92623737G>A	ENST00000298047.6	+	27	13245	c.13228G>A	c.(13228-13230)Gat>Aat	p.D4410N	FAT3_ENST00000409404.2_Missense_Mutation_p.D4378N|FAT3_ENST00000525166.1_Missense_Mutation_p.D4260N|FAT3_ENST00000533797.1_Missense_Mutation_p.D713N|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4410					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)			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)				TGAGAACCAGGATGGAGGGTC	0.547										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(13132-13134)GAT>AAT		FAT tumor suppressor homolog 3		G	ASN/ASP	0,4020		0,0,2010	58.0	65.0	63.0		13132	5.7	1.0	11		63	1,8339		0,1,4169	no	missense	FAT3	NM_001008781.2	23	0,1,6179	AA,AG,GG		0.012,0.0,0.0081	benign	4378/4558	92623737	1,12359	2010	4170	6180	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92623737G>A	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.13228G>A	11.37:g.92623737G>A	ENSP00000298047:p.Asp4410Asn	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.D850N	p.D4378N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			25	13149	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4410			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13132G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.226651	0.79576	0.0	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.66	5.66	0.87406	.	.	.	.	.	T	0.44222	0.1283	M	0.70275	2.135	0.80722	D	1	B;B	0.30361	0.277;0.136	B;B	0.31016	0.068;0.123	T	0.40421	-0.9564	9	0.54805	T	0.06	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	4378;4410	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	N	4410;4378;4260;713	ENSP00000298047:D4410N;ENSP00000387040:D4378N;ENSP00000432586:D4260N;ENSP00000436399:D713N	ENSP00000298047:D4410N	D	+	1	0	FAT3	92263385	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.563000	0.73964	2.665000	0.90641	0.655000	0.94253	GAT		0.547	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		11	24	0	0	0	0.069234	0	11	24		
BUD13	84811	broad.mit.edu	37	11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116619253G>A	ENST00000260210.4	-	10	1828	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	602					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(1804-1806)GCC>GTC		BUD13 homolog isoform 1							145.0	120.0	128.0					11																	116619253		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116619253G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1805C>T	11.37:g.116619253G>A	ENSP00000260210:p.Ala602Val					BUD13_uc001ppo.2_Missense_Mutation_p.A468V	p.A602V	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	10	1839	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	602					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1805C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571537	0.96553	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.19250	2.16;2.16	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.44298	-0.9337	10	0.87932	D	0	-14.1825	19.7653	0.96337	0.0:0.0:1.0:0.0	.	468;602	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	V	468;602	ENSP00000364594:A468V;ENSP00000260210:A602V	ENSP00000260210:A602V	A	-	2	0	BUD13	116124463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.373000	0.97168	2.730000	0.93505	0.563000	0.77884	GCC		0.478	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		24	34	0	0	0	0.0918	0	24	34		
APOC3	345	broad.mit.edu	37	11	116701559	116701559	+	Silent	SNP	C	C	T	rs533891893		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116701559C>T	ENST00000227667.3	+	3	188	c.126C>T	c.(124-126)acC>acT	p.T42T	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Silent_p.T60T	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	42					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15900	0.0		0.0	False		,,,				2504	0.0				GBM(81;259 1650 7161 35190)	uc001ppt.1		NaN																	0					0						c.(124-126)ACC>ACT		apolipoprotein C-III precursor							49.0	44.0	46.0					11																	116701559		2201	4296	6497	SO:0001819	synonymous_variant	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701559C>T	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.126C>T	11.37:g.116701559C>T							p.T42T	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	172	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	42					Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	c.126C>T	CCDS8377.1																																																																																				0.647	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2		NM_000040		6	17	0	0	0	0.021553	0	6	17		
KIF21A	55605	broad.mit.edu	37	12	39760203	39760203	+	Silent	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:39760203A>G	ENST00000361418.5	-	6	867	c.852T>C	c.(850-852)acT>acC	p.T284T	KIF21A_ENST00000544797.2_Silent_p.T284T|KIF21A_ENST00000361961.3_Silent_p.T284T|KIF21A_ENST00000541463.2_Silent_p.T284T|KIF21A_ENST00000395670.3_Silent_p.T284T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	284	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGTAGCTCCAGTACGCTTCA	0.393																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(850-852)ACT>ACC		kinesin family member 21A							116.0	114.0	115.0					12																	39760203		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760203A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.852T>C	12.37:g.39760203A>G						KIF21A_uc001rlx.2_Silent_p.T284T|KIF21A_uc001rlz.2_Silent_p.T284T|KIF21A_uc010skl.1_Silent_p.T284T|KIF21A_uc001rma.1_Silent_p.T292T	p.T284T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			6	998	-		Lung NSC(34;0.179)|all_lung(34;0.213)	284			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.852T>C	CCDS53776.1																																																																																				0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		25	53	0	0	0	0.099896	0	25	53		
GDF11	10220	broad.mit.edu	37	12	56143622	56143622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:56143622G>A	ENST00000257868.5	+	3	1217	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	394					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GATTATCTACGGCAAGATCCC	0.572																																						uc001shq.2		NaN																	0				kidney(1)	1						c.(1180-1182)GGC>AGC		growth differentiation factor 11 precursor							160.0	152.0	155.0					12																	56143622		2203	4300	6503	SO:0001583	missense	10220				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143622G>A	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1180G>A	12.37:g.56143622G>A	ENSP00000257868:p.Gly394Ser					GDF11_uc010spv.1_Missense_Mutation_p.G394S	p.G394S	NM_005811	NP_005802	O95390	GDF11_HUMAN			3	1217	+			394					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.1180G>A	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730550	0.69074	.	.	ENSG00000135414	ENST00000257868	D	0.83163	-1.69	5.3	5.3	0.74995	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	N	0.05510	-0.035	0.80722	D	1	P	0.52061	0.95	P	0.53313	0.723	T	0.80933	-0.1161	10	0.44086	T	0.13	-15.8838	16.8328	0.85949	0.0:0.0:1.0:0.0	.	394	O95390	GDF11_HUMAN	S	394	ENSP00000257868:G394S	ENSP00000257868:G394S	G	+	1	0	GDF11	54429889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.644000	0.89710	0.561000	0.74099	GGC		0.572	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3				34	133	0	0	0	0.183431	0	34	133		
PTPRB	5787	broad.mit.edu	37	12	70953310	70953310	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:70953310G>T	ENST00000261266.5	-	16	3902	c.3873C>A	c.(3871-3873)aaC>aaA	p.N1291K	PTPRB_ENST00000551525.1_Missense_Mutation_p.N1508K|PTPRB_ENST00000334414.6_Missense_Mutation_p.N1509K|PTPRB_ENST00000550857.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1421K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1201K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1291	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCAAAGTCGTTGTAGTCTG	0.493																																						uc001swb.3		NaN																	0				lung(2)|skin(1)	3						c.(3871-3873)AAC>AAA		protein tyrosine phosphatase, receptor type, B							215.0	213.0	214.0					12																	70953310		1992	4171	6163	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70953310G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3873C>A	12.37:g.70953310G>T	ENSP00000261266:p.Asn1291Lys					PTPRB_uc010sto.1_Missense_Mutation_p.N1201K|PTPRB_uc010stp.1_Missense_Mutation_p.N1201K|PTPRB_uc001swc.3_Missense_Mutation_p.N1509K|PTPRB_uc001swa.3_Missense_Mutation_p.N1421K|PTPRB_uc001swd.3_Missense_Mutation_p.N1508K|PTPRB_uc009zrr.1_Missense_Mutation_p.N1388K	p.N1291K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	3903	-	Renal(347;0.236)		1291			Fibronectin type-III 15.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3873C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677285	0.29783	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;3.72	6.11	-0.423	0.12325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090966	0.85682	D	0.000000	T	0.40040	0.1101	L	0.38175	1.15	0.35022	D	0.757911	B;B;B;B;B;B;P	0.37158	0.222;0.258;0.423;0.015;0.222;0.16;0.585	B;B;B;B;B;B;B	0.39299	0.165;0.246;0.111;0.047;0.165;0.255;0.296	T	0.42816	-0.9429	10	0.30078	T	0.28	.	10.7753	0.46346	0.7014:0.0:0.2986:0.0	.	1201;1201;1388;1508;1509;1291;1421	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	1509;1201;1421;1201;1201;1291;1508;1388	ENSP00000334928:N1509K;ENSP00000393028:N1201K;ENSP00000448058:N1421K;ENSP00000438927:N1201K;ENSP00000447302:N1201K;ENSP00000261266:N1291K;ENSP00000448349:N1508K;ENSP00000446982:N1388K	ENSP00000261266:N1291K	N	-	3	2	PTPRB	69239577	0.994000	0.37717	0.990000	0.47175	0.255000	0.26057	0.596000	0.24044	-0.285000	0.09089	-1.004000	0.02495	AAC		0.493	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				66	196	1	0	5.00936e-31	0.139131	5.61655e-31	66	196		
HECTD4	283450	broad.mit.edu	37	12	112670808	112670808	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:112670808C>G	ENST00000430131.2	-	37	5876	c.4731G>C	c.(4729-4731)aaG>aaC	p.K1577N	HECTD4_ENST00000550722.1_Splice_Site_p.K1853N|HECTD4_ENST00000377560.5_Splice_Site_p.K1827N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1577					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)										ATGAGGTTACCTTGGTCATGT	0.403																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(4729-4731)AAG>AAC		chromosome 12 open reading frame 51							103.0	93.0	96.0					12																	112670808		1904	4128	6032	SO:0001630	splice_region_variant	283450							g.chr12:112670808C>G	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.4731+1G>C	12.37:g.112670808C>G							p.K1577N	NM_001109662	NP_001103132					31	4749	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.4731G>C		.	.	.	.	.	.	.	.	.	.	C	25.2	4.615938	0.87359	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.49;0.49;0.48	5.34	5.34	0.76211	.	.	.	.	.	T	0.53965	0.1829	N	0.19112	0.55	0.58432	D	0.999999	D	0.57899	0.981	D	0.69824	0.966	T	0.49925	-0.8887	8	.	.	.	.	10.6141	0.45441	0.0:0.8821:0.0:0.1179	.	1577	Q9Y4D8	K0614_HUMAN	N	1827;1577;1853	ENSP00000366783:K1827N;ENSP00000404379:K1577N;ENSP00000449784:K1853N	.	K	-	3	2	C12orf51	111155191	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.292000	0.43549	2.659000	0.90383	0.655000	0.94253	AAG		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	Missense_Mutation	7	6	0	0	0	0.02938	0	7	6		
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Silent	SNP	G	G	A	rs149109491	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:70515701G>A	ENST00000381269.2	-	7	2943	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	SLC8A3_ENST00000357887.3_Silent_p.Y728Y|SLC8A3_ENST00000528359.1_Silent_p.Y728Y|SLC8A3_ENST00000533541.1_Silent_p.Y87Y|SLC8A3_ENST00000216568.7_Silent_p.Y101Y|SLC8A3_ENST00000394330.2_Silent_p.Y87Y|SLC8A3_ENST00000534137.1_Silent_p.Y727Y|SLC8A3_ENST00000356921.2_Silent_p.Y724Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572																																						uc001xly.2		NaN																	0				skin(3)|ovary(2)|breast(2)	7						c.(2188-2190)TAC>TAT		solute carrier family 8 (sodium/calcium		G	,,,,,	0,4406		0,0,2203	99.0	80.0	86.0		303,2184,2181,2172,261,2190	-3.0	1.0	14	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_001130417.1,NM_033262.3,NM_058240.2,NM_182932.1,NM_182936.1,NM_183002.1	,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,	101/299,728/926,727/925,724/922,87/285,730/928	70515701	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515701G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2190C>T	14.37:g.70515701G>A						SLC8A3_uc001xlu.2_Silent_p.Y87Y|SLC8A3_uc001xlv.2_Silent_p.Y101Y|SLC8A3_uc001xlw.2_Silent_p.Y727Y|SLC8A3_uc001xlx.2_Silent_p.Y728Y|SLC8A3_uc001xlz.2_Silent_p.Y724Y|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.Y87Y	p.Y730Y	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	2944	-			730			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.2190C>T	CCDS35498.1																																																																																				0.572	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1				28	43	0	0	0	0.108266	0	28	43		
DICER1	23405	broad.mit.edu	37	14	95579563	95579563	+	Splice_Site	SNP	T	T	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:95579563T>A	ENST00000526495.1	-	14	2199		c.e14-2		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCACAGTATCTGTGAAGAAAA	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.e13-1		dicer1							75.0	76.0	76.0					14																	95579563		2203	4300	6503	SO:0001630	splice_region_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95579563T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1908-2A>T	14.37:g.95579563T>A						DICER1_uc001ydv.2_Splice_Site_p.R626_splice|DICER1_uc001ydx.2_Splice_Site_p.R636_splice	p.R636_splice	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	13	2090	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)						A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37	c.1908_splice	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298598	0.81025	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7903	0.69837	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DICER1	94649316	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.291000	0.78721	1.901000	0.55032	0.455000	0.32223	.		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			Intron	23	55	0	0	0	0.069288	0	23	55		
SEMA6D	80031	broad.mit.edu	37	15	48052549	48052549	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:48052549C>T	ENST00000316364.5	+	3	597	c.158C>T	c.(157-159)tCg>tTg	p.S53L	SEMA6D_ENST00000558014.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S53L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	53	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCAATGAATCGCAGCACAGG	0.408																																						uc010bek.2		NaN																	0				skin(3)|breast(1)	4						c.(157-159)TCG>TTG		semaphorin 6D isoform 4 precursor							104.0	97.0	100.0					15																	48052549		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052549C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.158C>T	15.37:g.48052549C>T	ENSP00000324857:p.Ser53Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S53L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S53L	p.S53L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	3	518	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	53			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.158C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330455	0.81690	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.50333	1.59	0.80722	D	1	D;P;D;D;D	0.59767	0.986;0.815;0.969;0.977;0.986	P;B;P;B;P	0.48400	0.576;0.174;0.576;0.394;0.576	T	0.03695	-1.1012	10	0.52906	T	0.07	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	53;53;53;53;53	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	53	ENSP00000442040:S53L;ENSP00000446152:S53L;ENSP00000324857:S53L;ENSP00000374084:S53L;ENSP00000374083:S53L;ENSP00000346786:S53L;ENSP00000350770:S53L;ENSP00000374079:S53L;ENSP00000348276:S53L;ENSP00000374076:S53L	ENSP00000324857:S53L	S	+	2	0	SEMA6D	45839841	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.487000	0.81328	2.726000	0.93360	0.655000	0.94253	TCG		0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966		9	50	0	0	0	0.047766	0	9	50		
CA12	771	broad.mit.edu	37	15	63637770	63637770	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:63637770C>T	ENST00000178638.3	-	4	775	c.335G>A	c.(334-336)cGc>cAc	p.R112H	CA12_ENST00000422263.2_Missense_Mutation_p.R52H|CA12_ENST00000344366.3_Missense_Mutation_p.R112H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	112					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCACTGTAGCGAGACTGGAG	0.657																																						uc002amc.2		NaN																	0				ovary(1)	1						c.(334-336)CGC>CAC		carbonic anhydrase XII isoform 1 precursor	Acetazolamide(DB00819)						88.0	75.0	80.0					15																	63637770		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637770C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.335G>A	15.37:g.63637770C>T	ENSP00000178638:p.Arg112His					CA12_uc002amd.2_Missense_Mutation_p.R112H|CA12_uc002ame.2_Missense_Mutation_p.R52H	p.R112H	NM_001218	NP_001209	O43570	CAH12_HUMAN			4	491	-			112			Extracellular (Potential).		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.335G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638761	0.29157	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.65916	-0.18;-0.18;-0.18	5.19	4.0	0.46444	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.266986	0.24102	U	0.041528	T	0.49081	0.1536	L	0.43152	1.355	0.32437	N	0.547261	B;B;B	0.17667	0.018;0.01;0.023	B;B;B	0.13407	0.004;0.004;0.009	T	0.51647	-0.8679	10	0.30078	T	0.28	.	6.5885	0.22634	0.0:0.6588:0.0:0.3412	.	52;112;112	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	H	112;112;52	ENSP00000178638:R112H;ENSP00000343088:R112H;ENSP00000403028:R52H	ENSP00000178638:R112H	R	-	2	0	CA12	61424823	0.931000	0.31567	0.995000	0.50966	0.640000	0.38277	1.565000	0.36386	0.854000	0.35336	0.456000	0.33151	CGC		0.657	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1		NM_001218		3	18	0	0	0	0.115264	0	3	18		
SLX4	84464	broad.mit.edu	37	16	3633236	3633236	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:3633236T>C	ENST00000294008.3	-	14	5655	c.5015A>G	c.(5014-5016)cAt>cGt	p.H1672R	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1672	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATGCTTTCATGATGCTTCCT	0.627								Direct reversal of damage																														uc002cvp.2		NaN																	0					0						c.(5014-5016)CAT>CGT	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							150.0	136.0	141.0					16																	3633236		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3633236T>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5015A>G	16.37:g.3633236T>C	ENSP00000294008:p.His1672Arg						p.H1672R	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			14	5642	-			1672			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5015A>G	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	4.721	0.134073	0.09032	.	.	ENSG00000188827	ENST00000294008	T	0.01106	5.33	5.18	-4.83	0.03161	.	1.841470	0.03524	N	0.221451	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	10	0.15952	T	0.53	.	6.8702	0.24117	0.0:0.1549:0.3611:0.484	.	1672	Q8IY92	SLX4_HUMAN	R	1672	ENSP00000294008:H1672R	ENSP00000294008:H1672R	H	-	2	0	SLX4	3573237	0.125000	0.22332	0.000000	0.03702	0.001000	0.01503	0.150000	0.16263	-0.667000	0.05303	-0.908000	0.02827	CAT		0.627	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		54	57	0	0	0	0.139131	0	54	57		
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527													G|||	8	0.00159744	0.0	0.0014	5008	,	,		19765	0.0		0.007	False		,,,				2504	0.0					uc002eif.2		NaN																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(733-735)GTC>ATC		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	7,4389	12.9+/-30.5	0,7,2191	146.0	133.0	137.0		733,733,418,733	3.3	0.0	16	dbSNP_89	137	78,8522	45.4+/-104.0	1,76,4223	yes	missense,missense,missense,missense	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	29,29,29,29	1,83,6414	AA,AG,GG		0.907,0.1592,0.654	benign,benign,benign,benign	245/618,245/618,140/513,245/629	55719143	85,12911	2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719143G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.733G>A	16.37:g.55719143G>A	ENSP00000369237:p.Val245Ile					SLC6A2_uc010ccd.2_Missense_Mutation_p.V245I|SLC6A2_uc002eig.2_Missense_Mutation_p.V245I|SLC6A2_uc002eih.2_Missense_Mutation_p.V245I|SLC6A2_uc002eii.2_Missense_Mutation_p.V140I|SLC6A2_uc002eij.2_Missense_Mutation_p.V4I	p.V245I	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	5	844	+			245			Helical; Name=4; (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.733G>A	CCDS10754.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	6.774	0.511735	0.12944	0.001592	0.00907	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.82;-0.82	5.65	3.3	0.37823	.	0.238813	0.42548	N	0.000693	T	0.35158	0.0922	N	0.01624	-0.795	0.19300	N	0.999975	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.11329	0.004;0.001;0.006;0.004	T	0.28839	-1.0031	10	0.39692	T	0.17	.	6.0778	0.19925	0.1975:0.1437:0.6588:0.0	rs1805066;rs52797605;rs1805066	245;4;140;245	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	245;4;245;245	ENSP00000394956:V245I;ENSP00000369237:V245I;ENSP00000219833:V245I	ENSP00000219833:V245I	V	+	1	0	SLC6A2	54276644	0.996000	0.38824	0.006000	0.13384	0.401000	0.30781	2.436000	0.44819	0.509000	0.28195	-0.140000	0.14226	GTC		0.527	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2				19	64	0	0	0	0.055883	0	19	64		
CHD3	1107	broad.mit.edu	37	17	7797579	7797579	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:7797579G>T	ENST00000330494.7	+	7	1221	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	CHD3_ENST00000380358.4_Missense_Mutation_p.K416N|CHD3_ENST00000358181.4_Missense_Mutation_p.K357N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	357	Poly-Lys.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAAGAAGAAGAAGGGTAAGG	0.532																																						uc002gje.2		NaN																	0				breast(1)	1						c.(1069-1071)AAG>AAT		chromodomain helicase DNA binding protein 3							96.0	80.0	85.0					17																	7797579		2203	4300	6503	SO:0001583	missense	1107				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|protein binding|zinc ion binding	g.chr17:7797579G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1071G>T	17.37:g.7797579G>T	ENSP00000332628:p.Lys357Asn					CHD3_uc002gjd.2_Missense_Mutation_p.K416N|CHD3_uc002gjf.2_Missense_Mutation_p.K357N|CHD3_uc002gjg.1_Missense_Mutation_p.K185N	p.K357N	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			7	1221	+		Prostate(122;0.202)	357			Poly-Lys.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1071G>T	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.560|8.560	0.877540|0.877540	0.17395|0.17395	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.91351	.|-2.83;-2.75;-2.76	4.75|4.75	3.64|3.64	0.41730|0.41730	.|Zinc finger, FYVE/PHD-type (1);	.|0.157446	.|0.29565	.|N	.|0.011792	.|D	.|0.86289	.|0.5897	L|L	0.50333|0.50333	1.59|1.59	0.48040|0.48040	D|D	0.999575|0.999575	.|P;P;P	.|0.40731	.|0.728;0.608;0.608	.|B;B;B	.|0.38616	.|0.277;0.143;0.202	.|D	.|0.85043	.|0.0924	.|10	.|0.72032	.|D	.|0.01	-12.5463|-12.5463	8.4936|8.4936	0.33115|0.33115	0.1975:0.0:0.8025:0.0|0.1975:0.0:0.8025:0.0	.|.	.|357;357;416	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	X|N	228|416;357;357	.|ENSP00000369716:K416N;ENSP00000350907:K357N;ENSP00000332628:K357N	.|ENSP00000332628:K357N	E|K	+|+	1|3	0|2	CHD3|CHD3	7738304|7738304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.291000|2.291000	0.43540|0.43540	1.039000|1.039000	0.40074|0.40074	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.532	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		11	45	1	0	1.58986e-06	0.069234	1.66486e-06	11	45		
PYCR1	5831	broad.mit.edu	37	17	79892987	79892987	+	Missense_Mutation	SNP	G	G	A	rs121918376		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:79892987G>A	ENST00000329875.8	-	4	419	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PYCR1_ENST00000577756.1_Missense_Mutation_p.R119C|PYCR1_ENST00000337943.5_Missense_Mutation_p.R119C|PYCR1_ENST00000403172.4_Missense_Mutation_p.R119C|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.R146C	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	119			R -> G (in ARCL2B). {ECO:0000269|PubMed:19648921}.|R -> H (in ARCL2B; dbSNP:rs121918377). {ECO:0000269|PubMed:19648921}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GTCATGCAGCGGATGACCCTG	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17828	0.0		0.0	False		,,,				2504	0.0					uc002kcr.1		NaN																	0					0						c.(355-357)CGC>TGC		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						36.0	33.0	34.0					17																	79892987		2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892987G>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.355C>T	17.37:g.79892987G>A	ENSP00000328858:p.Arg119Cys					PYCR1_uc002kcq.1_Missense_Mutation_p.R119C|PYCR1_uc002kcp.2_Missense_Mutation_p.R119C|PYCR1_uc002kcs.1_Missense_Mutation_p.R119C|PYCR1_uc010wvd.1_Missense_Mutation_p.R146C|PYCR1_uc002kct.1_Missense_Mutation_p.R119C|PYCR1_uc002kcu.1_Missense_Mutation_p.R119C|PYCR1_uc010wve.1_Missense_Mutation_p.R71C	p.R119C	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	633	-	all_neural(118;0.0878)|Ovarian(332;0.12)		119		R -> H (in ARCL2B).|R -> G (in ARCL2B).			A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.355C>T	CCDS11795.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.49	3.137582	0.56936	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.14	4.14	0.48551	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	H	0.95224	3.64	0.80722	D	1	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	0.97110	0.991;1.0;1.0;0.998;1.0;1.0;1.0	D	0.88934	0.3375	10	0.87932	D	0	.	11.4308	0.50038	0.0:0.0:0.7663:0.2337	.	91;146;119;119;119;119;119	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	C	119;119;119;146;91	ENSP00000336579:R119C;ENSP00000328858:R119C;ENSP00000385483:R119C;ENSP00000384949:R146C	ENSP00000328858:R119C	R	-	1	0	PYCR1	77486278	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	7.287000	0.78681	1.871000	0.54225	0.561000	0.74099	CGC		0.647	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1				18	24	0	0	0	0.043863	0	18	24		
MUC16	94025	broad.mit.edu	37	19	9063763	9063763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:9063763G>A	ENST00000397910.4	-	3	23886	c.23683C>T	c.(23683-23685)Cct>Tct	p.P7895S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7897	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATGACAGGGGATGTAGAG	0.498																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23683-23685)CCT>TCT		mucin 16							210.0	189.0	196.0					19																	9063763		2008	4189	6197	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063763G>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.23683C>T	19.37:g.9063763G>A	ENSP00000381008:p.Pro7895Ser						p.P7895S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	23887	-			7897			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23683C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.093	0.385389	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	2.2	-2.16	0.07080	.	.	.	.	.	T	0.01940	0.0061	N	0.16656	0.425	.	.	.	P	0.38370	0.628	B	0.32928	0.155	T	0.42258	-0.9462	8	0.87932	D	0	.	2.7451	0.05264	0.1705:0.0:0.3439:0.4856	.	7895	B5ME49	.	S	7895	ENSP00000381008:P7895S	ENSP00000381008:P7895S	P	-	1	0	MUC16	8924763	0.000000	0.05858	0.003000	0.11579	0.218000	0.24690	-2.379000	0.01067	-0.366000	0.08064	0.187000	0.17357	CCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		40	70	0	0	0	0.092188	0	40	70		
DOCK6	57572	broad.mit.edu	37	19	11325227	11325227	+	Splice_Site	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:11325227A>G	ENST00000294618.7	-	33	4215		c.e33+1		CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Splice_Site	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATCAAGCCCTACCTGCACGAT	0.557																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.e33+1		dedicator of cytokinesis 6							97.0	104.0	102.0					19																	11325227		2154	4255	6409	SO:0001630	splice_region_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11325227A>G		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4203+1T>C	19.37:g.11325227A>G						DOCK6_uc010xlq.1_Splice_Site_p.Q740_splice	p.Q1401_splice	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			33	4244	-								A6H8X5|Q7Z7P4|Q9P2F2	Splice_Site	SNP	ENST00000294618.7	37	c.4203_splice	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434024	0.62955	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7064	0.69194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK6	11186227	1.000000	0.71417	0.933000	0.37362	0.527000	0.34593	9.076000	0.94009	2.121000	0.65114	0.529000	0.55759	.		0.557	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812	Intron	24	27	0	0	0	0.076483	0	24	27		
ILVBL	10994	broad.mit.edu	37	19	15226826	15226826	+	Missense_Mutation	SNP	G	G	A	rs141415835		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:15226826G>A	ENST00000263383.3	-	13	1667	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R403W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	510	Thiamine pyrophosphate binding. {ECO:0000250}.		R -> Q (in dbSNP:rs35548653).			integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCATCTGGCCGGCACAGCTTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17204	0.0		0.001	False		,,,				2504	0.0					uc002nam.2		NaN																	0				ovary(2)	2						c.(1528-1530)CGG>TGG		ilvB (bacterial acetolactate synthase)-like							71.0	66.0	68.0					19																	15226826		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15226826G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1528C>T	19.37:g.15226826G>A	ENSP00000263383:p.Arg510Trp					ILVBL_uc010xof.1_Missense_Mutation_p.R151W|ILVBL_uc010dzw.2_Missense_Mutation_p.R403W	p.R510W	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			13	1649	-			510			Thiamine pyrophosphate binding (By similarity).		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1528C>T	CCDS12325.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.21	3.059242	0.55325	.	.	ENSG00000105135	ENST00000263383	T	0.46819	0.86	5.69	3.48	0.39840	TPP-binding enzyme, conserved site (1);Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.249641	0.40640	N	0.001043	T	0.58250	0.2109	H	0.95043	3.615	0.43902	D	0.996532	B	0.26258	0.145	B	0.25291	0.059	T	0.60260	-0.7298	10	0.54805	T	0.06	-7.2617	9.0995	0.36660	0.0781:0.0:0.7761:0.1458	.	510	A1L0T0	ILVBL_HUMAN	W	510	ENSP00000263383:R510W	ENSP00000263383:R510W	R	-	1	2	ILVBL	15087826	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	1.886000	0.39688	0.714000	0.32081	0.655000	0.94253	CGG		0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		NM_006844		4	44	0	0	0	0.150653	0	4	44		
CADM4	199731	broad.mit.edu	37	19	44127538	44127538	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:44127538C>T	ENST00000222374.2	-	9	1159	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	371					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				AGGAAGGCTTCTCTTGCTTCT	0.592																																						uc002oxc.1		NaN																	0					0						c.(1111-1113)GAA>AAA		cell adhesion molecule 4 precursor							156.0	154.0	155.0					19																	44127538		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44127538C>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1111G>A	19.37:g.44127538C>T	ENSP00000222374:p.Glu371Lys						p.E371K	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			9	1160	-		Prostate(69;0.0199)	371			Cytoplasmic (Potential).		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.1111G>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401398	0.83120	.	.	ENSG00000105767	ENST00000222374	T	0.60797	0.16	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	L	0.43152	1.355	0.48395	D	0.999647	D	0.63880	0.993	D	0.68192	0.956	T	0.71530	-0.4565	10	0.72032	D	0.01	.	15.2401	0.73461	0.0:1.0:0.0:0.0	.	371	Q8NFZ8	CADM4_HUMAN	K	371	ENSP00000222374:E371K	ENSP00000222374:E371K	E	-	1	0	CADM4	48819378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.336000	0.72954	2.270000	0.75569	0.460000	0.39030	GAA		0.592	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1		NM_145296		42	128	0	0	0	0.131918	0	42	128		
SYMPK	8189	broad.mit.edu	37	19	46341740	46341740	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:46341740C>T	ENST00000245934.7	-	10	1465	c.1221G>A	c.(1219-1221)acG>acA	p.T407T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	407					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATTATCAGGCGTCAGCAGAG	0.602																																						uc002pdn.2		NaN																	0				ovary(1)	1						c.(1219-1221)ACG>ACA		symplekin							64.0	50.0	55.0					19																	46341740		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46341740C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1221G>A	19.37:g.46341740C>T						SYMPK_uc002pdo.1_Silent_p.T407T|SYMPK_uc002pdp.1_Silent_p.T407T|SYMPK_uc002pdq.1_Silent_p.T407T	p.T407T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	10	1466	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	407					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1221G>A	CCDS12676.2																																																																																				0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819		9	22	0	0	0	0.047766	0	9	22		
PRKD2	25865	broad.mit.edu	37	19	47197163	47197163	+	Silent	SNP	G	G	A	rs369924337		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:47197163G>A	ENST00000291281.4	-	10	1770	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	PRKD2_ENST00000433867.1_Silent_p.D515D|PRKD2_ENST00000595515.1_Silent_p.D515D|PRKD2_ENST00000601806.1_Silent_p.D358D|PRKD2_ENST00000600194.1_Silent_p.D358D			Q9BZL6	KPCD2_HUMAN	protein kinase D2	515					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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGCTGGGTGCGTCCTGAAGGA	0.687																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1543-1545)GAC>GAT		protein kinase D2 isoform A		G	,,,	0,4406		0,0,2203	54.0	57.0	56.0		1545,1545,1074,1545	-10.0	0.1	19		56	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKD2	NM_001079880.1,NM_001079881.1,NM_001079882.1,NM_016457.4	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	515/879,515/879,358/722,515/879	47197163	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197163G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1545C>T	19.37:g.47197163G>A						PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_Silent_p.D35D|PRKD2_uc002pff.2_Silent_p.D35D|PRKD2_uc002pfg.2_Silent_p.D358D|PRKD2_uc002pfi.2_Silent_p.D515D|PRKD2_uc002pfj.2_Silent_p.D515D|PRKD2_uc010xye.1_Silent_p.D515D|PRKD2_uc002pfk.2_Silent_p.D358D	p.D515D	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	1887	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	515					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1545C>T	CCDS12689.1																																																																																				0.687	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		19	57	0	0	0	0.049695	0	19	57		
KLK12	43849	broad.mit.edu	37	19	51535178	51535178	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:51535178G>T	ENST00000525263.1	-	3	530	c.411C>A	c.(409-411)ggC>ggA	p.G137G	KLK12_ENST00000319590.4_Silent_p.G137G|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.G137G|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCACTCGGTGCCAGCGGTTG	0.677																																						uc002pvg.1		NaN																	0				ovary(1)	1						c.(409-411)GGC>GGA		kallikrein 12 isoform 2							65.0	70.0	68.0					19																	51535178		2203	4299	6502	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535178G>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.411C>A	19.37:g.51535178G>T						KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Silent_p.G137G|KLK12_uc002pvi.1_Silent_p.G137G|KLK12_uc002pvj.1_Intron	p.G137G	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	531	-		all_neural(266;0.026)	137			Peptidase S1.		Q9UKR1|Q9UKR2	Silent	SNP	ENST00000525263.1	37	c.411C>A	CCDS12821.1																																																																																				0.677	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1		NM_019598		32	87	1	0	5.60225e-13	0.144211	6.2185e-13	32	87		
TPO	7173	broad.mit.edu	37	2	1544451	1544451	+	Missense_Mutation	SNP	G	G	A	rs368181428		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:1544451G>A	ENST00000345913.4	+	16	2795	c.2704G>A	c.(2704-2706)Gta>Ata	p.V902I	TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.V729I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	902					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.V902I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGGCCGTAGGGACCTC	0.637																																						uc002qww.2		NaN																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2704-2706)GTA>ATA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	A	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	77.0	66.0	70.0		2704,2704,2533,2533,2572,2185	-2.9	0.0	2		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	902/934,902/934,845/877,845/877,858/890,729/761	1544451	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1544451G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2704G>A	2.37:g.1544451G>A	ENSP00000318820:p.Val902Ile					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.V845I|TPO_uc002qwr.2_Missense_Mutation_p.V902I|TPO_uc002qwx.2_Missense_Mutation_p.V845I|TPO_uc010yio.1_Missense_Mutation_p.V729I|TPO_uc010yip.1_Missense_Mutation_p.V858I|TPO_uc002qwy.1_Missense_Mutation_p.V198I|TPO_uc002qwz.2_Intron	p.V902I	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2795	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	902			Cytoplasmic (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2704G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	g	0.152	-1.090855	0.01858	0.0	1.16E-4	ENSG00000115705	ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	T;T;T;T;T;T;T;T;T	0.70164	-0.2;-0.24;0.04;-0.2;-0.16;0.04;-0.28;0.53;-0.46	1.43	-2.86	0.05717	.	2.591470	0.02479	N	0.088351	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24426	0.043;0.025;0.103;0.062	B;B;B;B	0.14578	0.011;0.003;0.011;0.005	T	0.25398	-1.0133	10	0.10377	T	0.69	-0.0765	5.9353	0.19163	0.6539:0.0:0.3461:0.0	.	858;729;845;902	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	I	902;858;729;902;845;729;787;332;123	ENSP00000318820:V902I;ENSP00000263886:V858I;ENSP00000332044:V729I;ENSP00000329869:V902I;ENSP00000371636:V845I;ENSP00000371633:V729I;ENSP00000405788:V787I;ENSP00000419461:V332I;ENSP00000389659:V123I	ENSP00000329869:V902I	V	+	1	0	TPO	1523458	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.784000	0.01769	-1.117000	0.02965	-1.801000	0.00618	GTA		0.637	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		27	73	0	0	0	0.108266	0	27	73		
SNRPG	6637	broad.mit.edu	37	2	70515288	70515288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515288A>T	ENST00000272348.2	-	3	213	c.92T>A	c.(91-93)tTg>tAg	p.L31*	SNRPG_ENST00000438261.1_Nonsense_Mutation_p.L19*|SNRPG_ENST00000482975.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000449935.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000413456.2_Nonsense_Mutation_p.L23*|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000454893.1_Nonsense_Mutation_p.L31*	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	31					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						AAATCCCCGCAATATTCCTTG	0.358																																					NSCLC(57;761 1258 15082 39958 48415)	uc002sgp.2		NaN																	0					0						c.(91-93)TTG>TAG		small nuclear ribonucleoprotein polypeptide G							61.0	62.0	62.0					2																	70515288		2203	4300	6503	SO:0001587	stop_gained	6637				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr2:70515288A>T	X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.92T>A	2.37:g.70515288A>T	ENSP00000272348:p.Leu31*					SNRPG_uc002sgo.2_RNA	p.L31*	NM_003096	NP_003087	P62308	RUXG_HUMAN			3	180	-			31					D6W5G6|Q15357|Q6IB86	Nonsense_Mutation	SNP	ENST00000272348.2	37	c.92T>A	CCDS1903.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557247	0.86231	.	.	ENSG00000143977	ENST00000272348;ENST00000482975;ENST00000438261;ENST00000449935;ENST00000413456;ENST00000454893	.	.	.	5.07	5.07	0.68467	.	0.000000	0.50627	U	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.811	0.63264	1.0:0.0:0.0:0.0	.	.	.	.	X	31;19;19;19;23;31	.	ENSP00000272348:L31X	L	-	2	0	SNRPG	70368792	1.000000	0.71417	0.768000	0.31515	0.951000	0.60555	8.429000	0.90280	2.127000	0.65507	0.528000	0.53228	TTG		0.358	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2				6	100	0	0	0	0.021553	0	6	100		
SNRPG	6637	broad.mit.edu	37	2	70515306	70515306	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515306C>A	ENST00000272348.2	-	3	195	c.74G>T	c.(73-75)aGa>aTa	p.R25I	SNRPG_ENST00000438261.1_Missense_Mutation_p.R13I|SNRPG_ENST00000482975.2_Missense_Mutation_p.R13I|SNRPG_ENST00000449935.2_Missense_Mutation_p.R13I|SNRPG_ENST00000413456.2_Missense_Mutation_p.R17I|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000454893.1_Missense_Mutation_p.R25I	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	25					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						TTGGACATGTCTGCCACCATT	0.363																																					NSCLC(57;761 1258 15082 39958 48415)	uc002sgp.2		NaN																	0					0						c.(73-75)AGA>ATA		small nuclear ribonucleoprotein polypeptide G							48.0	49.0	49.0					2																	70515306		2203	4300	6503	SO:0001583	missense	6637				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr2:70515306C>A	X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.74G>T	2.37:g.70515306C>A	ENSP00000272348:p.Arg25Ile					SNRPG_uc002sgo.2_RNA	p.R25I	NM_003096	NP_003087	P62308	RUXG_HUMAN			3	162	-			25					D6W5G6|Q15357|Q6IB86	Missense_Mutation	SNP	ENST00000272348.2	37	c.74G>T	CCDS1903.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886218	0.91814	.	.	ENSG00000143977	ENST00000272348;ENST00000482975;ENST00000438261;ENST00000449935;ENST00000413456;ENST00000454893	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.07	5.07	0.68467	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.64402	U	0.000001	T	0.70272	0.3205	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74210	-0.3739	9	0.87932	D	0	.	17.1941	0.86887	0.0:1.0:0.0:0.0	.	25	P62308	RUXG_HUMAN	I	25;13;13;13;17;25	ENSP00000272348:R25I;ENSP00000441332:R13I;ENSP00000402194:R13I;ENSP00000391403:R13I;ENSP00000416334:R17I;ENSP00000393388:R25I	ENSP00000272348:R25I	R	-	2	0	SNRPG	70368810	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.052000	0.76634	2.632000	0.89209	0.650000	0.86243	AGA		0.363	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2				5	83	1	0	0.000602214	0.014758	0.000613264	5	83		
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A	rs371492015		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70890768G>A	ENST00000264436.4	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.T657M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572																																						uc002sgz.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|pancreas(1)	3						c.(1969-1971)ACG>ATG		adducin 2 isoform a		G	MET/THR,MET/THR,	0,4406		0,0,2203	159.0	134.0	142.0		1970,1970,	4.5	0.8	2		142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	ADD2	NM_001185054.1,NM_001617.3,NM_017488.3	81,81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	657/727,657/727,	70890768	1,13005	2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890768G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1970C>T	2.37:g.70890768G>A	ENSP00000264436:p.Thr657Met					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.T351M|ADD2_uc002sgx.2_3'UTR	p.T657M	NM_001617	NP_001608	P35612	ADDB_HUMAN			16	2435	-			657					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1970C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554912	0.27739	0.0	1.16E-4	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.47177	0.85;0.85	5.43	4.53	0.55603	.	0.960839	0.08665	N	0.911763	T	0.34571	0.0902	N	0.08118	0	0.80722	D	1	D;D	0.59767	0.964;0.986	B;B	0.43623	0.425;0.425	T	0.22173	-1.0224	10	0.66056	D	0.02	-15.3815	13.9247	0.63955	0.0:0.1595:0.8405:0.0	.	657;657	Q05DK5;P35612	.;ADDB_HUMAN	M	657;657;408	ENSP00000264436:T657M;ENSP00000384677:T657M	ENSP00000264436:T657M	T	-	2	0	ADD2	70744276	0.905000	0.30787	0.780000	0.31762	0.032000	0.12392	1.937000	0.40193	1.377000	0.46286	0.650000	0.86243	ACG		0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4		NM_001617		16	151	0	0	0	0.146539	0	16	151		
LMAN2L	81562	broad.mit.edu	37	2	97370381	97370381	+	IGR	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:97370381A>G	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CAGGACCCACAAATCACCTGA	0.527																																						uc010fia.2		NaN																	0				ovary(1)	1						c.(6232-6234)ACA>ACG		fer-1-like 5 isoform 2							86.0	86.0	86.0					2																	97370381		1871	4096	5967	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97370381A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370381A>G						FER1L5_uc002sws.3_Silent_p.T787T|FER1L5_uc002swt.3_Silent_p.T787T|FER1L5_uc010yus.1_Silent_p.T786T	p.T2078T	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			52	6234	+			2078					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.6234A>G	CCDS2023.1																																																																																				0.527	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1		NM_030805		41	57	0	0	0	0.09836	0	41	57		
POU3F3	5455	broad.mit.edu	37	2	105473459	105473459	+	Silent	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:105473459G>C	ENST00000361360.2	+	1	1491	c.1491G>C	c.(1489-1491)acG>acC	p.T497T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	497					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCAGACGAGCGTTCAGT	0.766																																						uc010ywg.1		NaN																	0				ovary(1)	1						c.(1489-1491)ACG>ACC		POU class 3 homeobox 3							6.0	8.0	7.0					2																	105473459		2088	4165	6253	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473459G>C		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1491G>C	2.37:g.105473459G>C							p.T497T	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	1491	+			497					P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.1491G>C	CCDS33265.1																																																																																				0.766	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2				4	16	0	0	0	0.150653	0	4	16		
NCKAP5	344148	broad.mit.edu	37	2	133539920	133539920	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:133539920T>G	ENST00000409261.1	-	14	4837	c.4464A>C	c.(4462-4464)caA>caC	p.Q1488H	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1488H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1488										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTTTGCACTTGGCCCTTTT	0.507																																						uc002ttp.2		NaN																	0					0						c.(4462-4464)CAA>CAC		Nck-associated protein 5 isoform 1							80.0	77.0	78.0					2																	133539920		1888	4118	6006	SO:0001583	missense	344148						protein binding	g.chr2:133539920T>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4464A>C	2.37:g.133539920T>G	ENSP00000387128:p.Gln1488His					NCKAP5_uc002ttq.2_Intron	p.Q1488H	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4838	-			1488					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4464A>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002515	0.54254	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.21361	2.01;2.01	5.65	5.65	0.86999	.	0.000000	0.37178	U	0.002207	T	0.33644	0.0870	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06607	-1.0817	10	0.62326	D	0.03	.	9.1567	0.36996	0.0:0.0861:0.0:0.9139	.	1488	O14513	NCKP5_HUMAN	H	1488	ENSP00000387128:Q1488H;ENSP00000380603:Q1488H	ENSP00000380603:Q1488H	Q	-	3	2	NCKAP5	133256390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.422000	0.34826	2.371000	0.80710	0.533000	0.62120	CAA		0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		11	108	0	0	0	0.080935	0	11	108		
ZRANB3	84083	broad.mit.edu	37	2	136107733	136107733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:136107733C>T	ENST00000264159.6	-	5	528	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZRANB3_ENST00000401392.1_Missense_Mutation_p.D138N|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D138N	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	138	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTTTGCATCTGCGGTTAAG	0.373																																						uc002tum.2		NaN																	0				lung(2)	2						c.(412-414)GAT>AAT		zinc finger, RAN-binding domain containing 3							60.0	57.0	58.0					2																	136107733		1850	4098	5948	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136107733C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.412G>A	2.37:g.136107733C>T	ENSP00000264159:p.Asp138Asn					ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D138N|ZRANB3_uc002tun.1_Missense_Mutation_p.D78N	p.D138N	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	5	529	-			138			Helicase ATP-binding.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.412G>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082423	0.76528	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92752	-3.1;-3.1;-3.1	5.36	5.36	0.76844	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	M	0.73962	2.25	0.80722	D	1	P;B;D	0.61697	0.459;0.234;0.99	B;B;P	0.59825	0.428;0.244;0.864	D	0.94852	0.8014	10	0.48119	T	0.1	-16.6063	19.1001	0.93270	0.0:1.0:0.0:0.0	.	78;138;138	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	N	138;138;138;78	ENSP00000383979:D138N;ENSP00000264159:D138N;ENSP00000441320:D138N	ENSP00000264159:D138N	D	-	1	0	ZRANB3	135824203	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.045000	0.71020	2.514000	0.84764	0.655000	0.94253	GAT		0.373	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1		NM_032143		5	29	0	0	0	0.02938	0	5	29		
LRP1B	53353	broad.mit.edu	37	2	141079602	141079602	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:141079602A>T	ENST00000389484.3	-	82	13541	c.12570T>A	c.(12568-12570)tcT>tcA	p.S4190S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4190	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTGGCCCCAGAAGGATTTA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12568-12570)TCT>TCA		low density lipoprotein-related protein 1B							53.0	57.0	56.0					2																	141079602		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141079602A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12570T>A	2.37:g.141079602A>T		TSP Lung(27;0.18)					p.S4190S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	82	13542	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4190			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12570T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	a	10.79	1.450336	0.26074	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.19	4.04	0.47022	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50048	-0.8873	4	.	.	.	.	5.2586	0.15561	0.6595:0.0:0.0752:0.2653	.	.	.	.	Q	422	.	.	L	-	2	0	LRP1B	140796072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.992000	0.29667	0.919000	0.36945	0.528000	0.53228	CTG		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		48	36	0	0	0	0.139131	0	48	36		
COL4A3	1285	broad.mit.edu	37	2	228104885	228104885	+	Silent	SNP	C	C	T	rs368291735		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:228104885C>T	ENST00000396578.3	+	3	333	c.171C>T	c.(169-171)ccC>ccT	p.P57P	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	57	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGACCCCCCGGTTCTCCTG	0.517																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(169-171)CCC>CCT		alpha 3 type IV collagen isoform 1 precursor		C		4,3748		0,4,1872	49.0	50.0	49.0		171	-3.7	0.9	2		49	1,8227		0,1,4113	no	coding-synonymous	COL4A3	NM_000091.4		0,5,5985	TT,TC,CC		0.0122,0.1066,0.0417		57/1671	228104885	5,11975	1876	4114	5990	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228104885C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.171C>T	2.37:g.228104885C>T						COL4A3_uc002von.1_Silent_p.P57P|COL4A3_uc002voo.1_Silent_p.P57P|COL4A3_uc002vop.1_Silent_p.P57P|uc002voq.1_Intron	p.P57P	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	3	333	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	57			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.171C>T	CCDS42829.1																																																																																				0.517	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		14	2	0	0	0	0.11911	0	14	2		
CHGB	1114	broad.mit.edu	37	20	5904368	5904368	+	Silent	SNP	C	C	T	rs138422072	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:5904368C>T	ENST00000378961.4	+	4	1782	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	526						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACCCATACTACGACCCTCTCC	0.438																																						uc002wmg.2		NaN																	0				breast(3)|skin(2)|ovary(1)	6						c.(1576-1578)TAC>TAT		chromogranin B precursor		C		0,4406		0,0,2203	68.0	70.0	69.0		1578	-5.1	0.0	20	dbSNP_134	69	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	CHGB	NM_001819.2		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		526/678	5904368	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904368C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1578C>T	20.37:g.5904368C>T						CHGB_uc010zqz.1_Silent_p.Y209Y	p.Y526Y	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1884	+			526					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1578C>T	CCDS13092.1																																																																																				0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2		NM_001819		6	96	0	0	0	0.021553	0	6	96		
DZANK1	55184	broad.mit.edu	37	20	18371024	18371024	+	Splice_Site	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:18371024T>G	ENST00000358866.6	-	17	1911	c.1889A>C	c.(1888-1890)gAg>gCg	p.E630A	DZANK1_ENST00000329494.5_Splice_Site_p.E608A|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Splice_Site_p.E630A|DZANK1_ENST00000357236.4_Splice_Site_p.E516A			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	630							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AACACTTACCTCATCCAGCAG	0.483																																						uc010zsa.1		NaN																	0				ovary(1)	1						c.(1945-1947)GAG>GCG		hypothetical protein LOC55184							117.0	117.0	117.0					20																	18371024		1954	4157	6111	SO:0001630	splice_region_variant	55184					intracellular	zinc ion binding	g.chr20:18371024T>G	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1890+1A>C	20.37:g.18371024T>G						C20orf12_uc010zrz.1_Missense_Mutation_p.E168A|C20orf12_uc002wqp.3_Missense_Mutation_p.E340A|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E516A|C20orf12_uc002wqq.3_Missense_Mutation_p.E630A	p.E649A	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			18	2155	-		Myeloproliferative disorder(85;0.0122)	457			ANK 1.		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1946A>C	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098308	0.76870	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.75	5.75	0.90469	.	0.049721	0.85682	D	0.000000	T	0.71702	0.3371	L	0.39633	1.23	0.48901	D	0.999724	D;D;D;D	0.71674	0.997;0.996;0.991;0.998	P;D;P;D	0.71870	0.874;0.909;0.743;0.975	T	0.74417	-0.3672	10	0.72032	D	0.01	-15.0673	15.0313	0.71708	0.0:0.0:0.0:1.0	.	649;516;630;415	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	A	463;630;608;462;415;516	ENSP00000366857:E463A;ENSP00000262547:E630A;ENSP00000328866:E608A;ENSP00000349774:E516A	ENSP00000262547:E630A	E	-	2	0	C20orf12	18319024	1.000000	0.71417	0.413000	0.26509	0.732000	0.41865	5.470000	0.66756	2.189000	0.69895	0.533000	0.62120	GAG		0.483	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1		NM_001099407	Missense_Mutation	26	91	0	0	0	0.116897	0	26	91		
TOP1	7150	broad.mit.edu	37	20	39728847	39728847	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:39728847G>A	ENST00000361337.2	+	12	1377	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	376					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CTGAAGAGACGAATCATGCCC	0.507			T	NUP98	AML*																																	uc002xjl.2		NaN		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1126-1128)CGA>CAA		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						57.0	58.0	58.0					20																	39728847		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39728847G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1127G>A	20.37:g.39728847G>A	ENSP00000354522:p.Arg376Gln					uc002xjn.1_Intron	p.R376Q	NM_003286	NP_003277	P11387	TOP1_HUMAN			12	1373	+		Myeloproliferative disorder(115;0.00878)	376					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.1127G>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852075	0.97023	.	.	ENSG00000198900	ENST00000361337	T	0.58797	0.31	5.13	5.13	0.70059	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87540	0.2458	10	0.87932	D	0	-10.4872	18.9411	0.92605	0.0:0.0:1.0:0.0	.	376	P11387	TOP1_HUMAN	Q	376	ENSP00000354522:R376Q	ENSP00000354522:R376Q	R	+	2	0	TOP1	39162261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.553000	0.86117	0.655000	0.94253	CGA		0.507	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2				24	27	0	0	0	0.0918	0	24	27		
IGSF5	150084	broad.mit.edu	37	21	41142905	41142905	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr21:41142905G>A	ENST00000380588.4	+	4	584	c.481G>A	c.(481-483)Gtt>Att	p.V161I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	161	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACCTTGTGAAGTTACTTGTCT	0.468																																						uc002yyo.2		NaN																	0					0						c.(481-483)GTT>ATT		immunoglobulin superfamily 5 like							72.0	68.0	69.0					21																	41142905		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41142905G>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.481G>A	21.37:g.41142905G>A	ENSP00000369962:p.Val161Ile						p.V161I	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			4	584	+		Prostate(19;5.35e-06)	161			Ig-like V-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380588.4	37	c.481G>A	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397590	0.25205	.	.	ENSG00000183067	ENST00000380588	T	0.08193	3.12	5.17	3.33	0.38152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241615	0.42548	D	0.000681	T	0.06962	0.0177	N	0.16368	0.405	0.33597	D	0.601803	P	0.48089	0.905	P	0.51453	0.67	T	0.30880	-0.9963	10	0.25751	T	0.34	-24.0443	3.933	0.09293	0.1467:0.0:0.6228:0.2305	.	161	Q9NSI5	IGSF5_HUMAN	I	161	ENSP00000369962:V161I	ENSP00000369962:V161I	V	+	1	0	IGSF5	40064775	0.993000	0.37304	0.681000	0.30009	0.050000	0.14768	1.952000	0.40343	1.479000	0.48272	0.650000	0.86243	GTT		0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1				34	46	0	0	0	0.074837	0	34	46		
FAM118A	55007	broad.mit.edu	37	22	45719182	45719182	+	Silent	SNP	C	C	T	rs570652188		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:45719182C>T	ENST00000216214.3	+	4	1008	c.174C>T	c.(172-174)gcC>gcT	p.A58A	FAM118A_ENST00000405673.1_Silent_p.A58A|FAM118A_ENST00000441876.2_Silent_p.A58A	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	58						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCATCGAGGCCGTCATCGAGG	0.642																																						uc003bfz.3		NaN																	0					0						c.(172-174)GCC>GCT		hypothetical protein LOC55007							52.0	52.0	52.0					22																	45719182		2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45719182C>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.174C>T	22.37:g.45719182C>T						FAM118A_uc003bga.3_Silent_p.A58A	p.A58A	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	790	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	58					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.174C>T	CCDS14065.1																																																																																				0.642	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1		NM_017911		5	83	0	0	0	0.014758	0	5	83		
PLXNB2	23654	broad.mit.edu	37	22	50721182	50721182	+	Missense_Mutation	SNP	T	T	G	rs202201273		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:50721182T>G	ENST00000449103.1	-	18	3085	c.2945A>C	c.(2944-2946)aAc>aCc	p.N982T	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.N982T			O15031	PLXB2_HUMAN	plexin B2	982					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTACGGGGTTTTCGCGGTA	0.677																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2944-2946)AAC>ACC		plexin B2 precursor							26.0	32.0	30.0					22																	50721182		1942	4112	6054	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50721182T>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2945A>C	22.37:g.50721182T>G	ENSP00000409171:p.Asn982Thr					PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.N982T	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	18	3051	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	982			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2945A>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988286	0.53934	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000427829	T;T	0.58358	0.34;0.34	3.66	3.66	0.41972	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.70894	0.3276	M	0.83118	2.625	0.49915	D	0.999834	D	0.89917	1.0	D	0.74348	0.983	T	0.74604	-0.3610	10	0.66056	D	0.02	.	10.2948	0.43618	0.0:0.0:0.0:1.0	.	982	O15031	PLXB2_HUMAN	T	982;982;43	ENSP00000409171:N982T;ENSP00000352288:N982T	ENSP00000352288:N982T	N	-	2	0	PLXNB2	49063309	0.627000	0.27129	0.865000	0.33974	0.141000	0.21300	2.111000	0.41883	1.546000	0.49388	0.260000	0.18958	AAC		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		7	16	0	0	0	0.11911	0	7	16		
GTPBP8	29083	broad.mit.edu	37	3	112715770	112715770	+	Missense_Mutation	SNP	G	G	C	rs376586493	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:112715770G>C	ENST00000383678.2	+	4	680	c.598G>C	c.(598-600)Gtt>Ctt	p.V200L	GTPBP8_ENST00000383677.3_Missense_Mutation_p.V167L|GTPBP8_ENST00000473129.1_Missense_Mutation_p.V50L|GTPBP8_ENST00000467752.1_Missense_Mutation_p.V89L	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	200	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGTGGATAGCGTTGTTGGAAT	0.318																																						uc003dzn.2		NaN																	0					0						c.(598-600)GTT>CTT		GTP-binding protein 8 isoform 1							130.0	134.0	133.0					3																	112715770		2202	4299	6501	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112715770G>C	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.598G>C	3.37:g.112715770G>C	ENSP00000373176:p.Val200Leu					GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.V167L	p.V200L	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			4	645	+			200			G.		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.598G>C	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386486	0.42308	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	T;T;T;T	0.72051	2.29;2.45;2.29;-0.62	5.46	5.46	0.80206	GTP-binding domain, HSR1-related (1);	0.502146	0.22110	N	0.064489	T	0.72771	0.3502	L	0.60455	1.87	0.32010	N	0.602268	D;P	0.53462	0.96;0.894	P;P	0.51833	0.543;0.681	T	0.77902	-0.2414	10	0.46703	T	0.11	-33.7796	9.5255	0.39162	0.0:0.1532:0.6884:0.1584	.	167;200	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	L	200;167;223;89;50	ENSP00000373176:V200L;ENSP00000373175:V167L;ENSP00000417632:V89L;ENSP00000418514:V50L	ENSP00000303802:V223L	V	+	1	0	GTPBP8	114198460	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.988000	0.40697	2.560000	0.86352	0.561000	0.74099	GTT		0.318	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2		NM_014170		6	64	0	0	0	0.021553	0	6	64		
ZIC1	7545	broad.mit.edu	37	3	147128234	147128234	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:147128234C>T	ENST00000282928.4	+	1	1064	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GACGCGGCGGCGGCAGCCAGC	0.701																																						uc003ewe.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(334-336)GCG>GTG		zinc finger protein of the cerebellum 1							12.0	15.0	14.0					3																	147128234		2019	4153	6172	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128234C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.335C>T	3.37:g.147128234C>T	ENSP00000282928:p.Ala112Val						p.A112V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1054	+			112			Poly-Ala.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.335C>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080569	0.36662	.	.	ENSG00000152977	ENST00000282928	T	0.37584	1.19	2.78	2.78	0.32641	.	0.118518	0.56097	D	0.000032	T	0.21841	0.0526	L	0.27053	0.805	0.42176	D	0.991663	P	0.47409	0.895	B	0.38803	0.282	T	0.03555	-1.1025	10	0.34782	T	0.22	.	10.213	0.43152	0.1992:0.8008:0.0:0.0	.	112	Q15915	ZIC1_HUMAN	V	112	ENSP00000282928:A112V	ENSP00000282928:A112V	A	+	2	0	ZIC1	148610924	0.519000	0.26242	0.999000	0.59377	0.838000	0.47535	0.878000	0.28126	1.878000	0.54408	0.542000	0.68232	GCG		0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		7	70	0	0	0	0.038147	0	7	70		
DGKQ	1609	broad.mit.edu	37	4	961427	961427	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:961427C>T	ENST00000273814.3	-	8	970	c.897G>A	c.(895-897)acG>acA	p.T299T	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	299					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGATCTTCAGCGTTTGCTTCC	0.667																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NaN																	0				kidney(1)	1						c.(895-897)ACG>ACA		diacylglycerol kinase, theta							59.0	61.0	60.0					4																	961427		2202	4300	6502	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:961427C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.897G>A	4.37:g.961427C>T						DGKQ_uc010ibn.2_Silent_p.T299T	p.T299T	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	971	-			299					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.897G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	2.199	-0.383345	0.04966	.	.	ENSG00000145214	ENST00000509465	.	.	.	4.97	-3.08	0.05347	.	.	.	.	.	T	0.38295	0.1035	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	.	1.199	0.01880	0.1978:0.1272:0.2125:0.4626	.	.	.	.	H	246	.	.	R	-	2	0	DGKQ	951427	0.584000	0.26766	0.695000	0.30226	0.005000	0.04900	-0.141000	0.10327	-0.411000	0.07530	-1.174000	0.01732	CGC		0.667	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1				14	16	0	0	0	0.132662	0	14	16		
NSUN7	79730	broad.mit.edu	37	4	40752759	40752759	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:40752759G>A	ENST00000381782.2	+	2	544	c.49G>A	c.(49-51)Gag>Aag	p.E17K	NSUN7_ENST00000316607.5_Missense_Mutation_p.E17K	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	17							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGAAGATCCCGAGATCATCTC	0.552																																						uc003gvj.3		NaN																	0					0						c.(49-51)GAG>AAG		NOL1/NOP2/Sun domain family, member 7							83.0	81.0	82.0					4																	40752759		2203	4300	6503	SO:0001583	missense	79730							g.chr4:40752759G>A	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.49G>A	4.37:g.40752759G>A	ENSP00000371201:p.Glu17Lys					NSUN7_uc003gvh.2_Missense_Mutation_p.E17K|NSUN7_uc003gvi.3_Missense_Mutation_p.E17K	p.E17K	NM_024677	NP_078953					2	544	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.49G>A	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355126	0.41700	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.19938	2.32;2.11	4.63	2.66	0.31614	.	0.376195	0.22780	N	0.055738	T	0.10035	0.0246	L	0.44542	1.39	0.09310	N	1	P;P;P	0.45078	0.85;0.846;0.846	B;B;B	0.28465	0.041;0.09;0.09	T	0.18935	-1.0321	10	0.14252	T	0.57	-4.9134	4.7696	0.13150	0.1233:0.2263:0.6504:0.0	.	17;17;17	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	K	17	ENSP00000371201:E17K;ENSP00000319127:E17K	ENSP00000319127:E17K	E	+	1	0	NSUN7	40447516	0.002000	0.14202	0.018000	0.16275	0.003000	0.03518	0.801000	0.27055	1.128000	0.42052	0.467000	0.42956	GAG		0.552	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2		NM_024677		23	46	0	0	0	0.069288	0	23	46		
IGJ	3512	broad.mit.edu	37	4	71522981	71522981	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:71522981G>T	ENST00000254801.4	-	3	385	c.216C>A	c.(214-216)atC>atA	p.I72I	IGJ_ENST00000543780.1_Silent_p.I88I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	72					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TGGGATCAGAGATATTCTCCC	0.323																																						uc003hfn.3		NaN																	0					0						c.(214-216)ATC>ATA		immunoglobulin J chain							93.0	88.0	90.0					4																	71522981		2203	4297	6500	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522981G>T	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.216C>A	4.37:g.71522981G>T						IGJ_uc010ihz.2_Silent_p.I88I	p.I72I	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		3	357	-			72						Silent	SNP	ENST00000254801.4	37	c.216C>A	CCDS3545.1																																																																																				0.323	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1		NM_144646		18	70	1	0	1.96292e-10	0.055883	2.13612e-10	18	70		
PCDHA9	9752	broad.mit.edu	37	5	140229323	140229323	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229323C>T	ENST00000532602.1	+	1	2276	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R415C|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	415	Cadherin 4. {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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGACCGCGAGAGTGT	0.642																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1243-1245)CGC>TGC		protocadherin alpha 9 isoform 1 precursor							109.0	99.0	102.0					5																	140229323		2196	4272	6468	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229323C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1243C>T	5.37:g.140229323C>T	ENSP00000436042:p.Arg415Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R415C	p.R415C	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1967	+			415			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1243C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754892	0.31046	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.59772	0.24;0.24	3.6	2.71	0.32032	Cadherin (4);Cadherin-like (1);	0.000000	0.31531	U	0.007482	D	0.84660	0.5521	H	0.99197	4.465	0.32061	N	0.595684	D;D	0.89917	1.0;1.0	D;P	0.91635	0.999;0.897	D	0.88926	0.3369	10	0.87932	D	0	.	12.4123	0.55473	0.1698:0.8302:0.0:0.0	.	415;415	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	415	ENSP00000436042:R415C;ENSP00000367362:R415C	ENSP00000367362:R415C	R	+	1	0	PCDHA9	140209507	0.008000	0.16893	0.962000	0.40283	0.047000	0.14425	0.140000	0.16056	0.794000	0.33899	0.313000	0.20887	CGC		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		33	125	0	0	0	0.163468	0	33	125		
PCDHA9	9752	broad.mit.edu	37	5	140229587	140229587	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229587T>G	ENST00000532602.1	+	1	2540	c.1507T>G	c.(1507-1509)Tcg>Gcg	p.S503A	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.S503A|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCTCGCTGTCGAG	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1507-1509)TCG>GCG		protocadherin alpha 9 isoform 1 precursor							62.0	68.0	66.0					5																	140229587		2196	4271	6467	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229587T>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1507T>G	5.37:g.140229587T>G	ENSP00000436042:p.Ser503Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S503A	p.S503A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2231	+			503			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1507T>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332896	0.01298	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.61742	0.08;0.08	3.56	-2.75	0.05914	Cadherin (4);Cadherin-like (1);	1.941730	0.04859	N	0.443742	T	0.32615	0.0835	N	0.25094	0.71	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20338	-1.0278	10	0.02654	T	1	.	2.521	0.04680	0.1003:0.3788:0.2348:0.2861	.	503;503	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	A	503	ENSP00000436042:S503A;ENSP00000367362:S503A	ENSP00000367362:S503A	S	+	1	0	PCDHA9	140209771	0.000000	0.05858	0.947000	0.38551	0.242000	0.25591	-0.154000	0.10130	-0.324000	0.08589	-2.301000	0.00260	TCG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		30	167	0	0	0	0.173368	0	30	167		
PRR7	80758	broad.mit.edu	37	5	176882976	176882976	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:176882976C>T	ENST00000323249.3	+	4	1169	c.679C>T	c.(679-681)Cca>Tca	p.P227S	PRR7_ENST00000510492.1_Missense_Mutation_p.P227S|PRR7_ENST00000502922.1_Missense_Mutation_p.P227S	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	227	Pro-rich.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCCGCCCTGCCCAGCCCTCTG	0.746																																						uc003mgu.1		NaN																	0					0						c.(679-681)CCA>TCA		proline rich 7 (synaptic)							6.0	8.0	7.0					5																	176882976		2068	4093	6161	SO:0001583	missense	80758					cell junction|integral to membrane|postsynaptic membrane		g.chr5:176882976C>T	BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.679C>T	5.37:g.176882976C>T	ENSP00000327168:p.Pro227Ser					PRR7_uc003mgv.1_Missense_Mutation_p.P227S|PRR7_uc003mgw.1_Missense_Mutation_p.P227S	p.P227S	NM_030567	NP_085044	Q8TB68	PRR7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1171	+	all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	227			Pro-rich.|Cytoplasmic (Potential).		Q8WU53|Q9BTA7	Missense_Mutation	SNP	ENST00000323249.3	37	c.679C>T	CCDS4419.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.439996	0.25900	.	.	ENSG00000131188	ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T	0.42131	0.98;0.98;0.98	3.69	3.69	0.42338	.	0.208396	0.31221	N	0.008028	T	0.20618	0.0496	N	0.08118	0	0.27542	N	0.950774	B	0.25486	0.127	B	0.23275	0.045	T	0.11842	-1.0571	9	.	.	.	0.9579	10.6966	0.45903	0.1915:0.8085:0.0:0.0	.	227	Q8TB68	PRR7_HUMAN	S	227;227;227;207	ENSP00000327168:P227S;ENSP00000420872:P227S;ENSP00000421039:P227S	.	P	+	1	0	PRR7	176815582	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.336000	0.43938	2.066000	0.61787	0.467000	0.42956	CCA		0.746	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253435.1		NM_030567		7	5	0	0	0	0.02938	0	7	5		
ZNF354A	6940	broad.mit.edu	37	5	178139989	178139989	+	Missense_Mutation	SNP	G	G	C	rs267600575		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:178139989G>C	ENST00000335815.2	-	5	1087	c.890C>G	c.(889-891)tCc>tGc	p.S297C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	297					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACATCTGTAGGATTTCTCCAC	0.378																																						uc003mjj.2		NaN																	0				ovary(2)|skin(1)	3						c.(889-891)TCC>TGC		zinc finger protein 354A							68.0	72.0	70.0					5																	178139989		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139989G>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.890C>G	5.37:g.178139989G>C	ENSP00000337122:p.Ser297Cys						p.S297C	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1088	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	297					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.890C>G	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771331	0.31320	.	.	ENSG00000169131	ENST00000335815	T	0.18657	2.2	4.67	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.262850	0.20266	N	0.095761	T	0.19927	0.0479	L	0.58428	1.81	0.32750	N	0.506539	B	0.16603	0.018	B	0.16289	0.015	T	0.12091	-1.0561	10	0.59425	D	0.04	-5.9075	7.2089	0.25923	0.0912:0.3704:0.5384:0.0	.	297	O60765	Z354A_HUMAN	C	297	ENSP00000337122:S297C	ENSP00000337122:S297C	S	-	2	0	ZNF354A	178072595	1.000000	0.71417	0.972000	0.41901	0.486000	0.33341	2.777000	0.47717	0.685000	0.31468	-0.969000	0.02612	TCC		0.378	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1		NM_005649		24	78	0	0	0	0.076483	0	24	78		
DSP	1832	broad.mit.edu	37	6	7580718	7580718	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:7580718A>C	ENST00000379802.3	+	23	4636	c.4295A>C	c.(4294-4296)cAg>cCg	p.Q1432P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1432	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATCCAACAGCAAAAGGCC	0.488																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4294-4296)CAG>CCG		desmoplakin isoform I							56.0	58.0	57.0					6																	7580718		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580718A>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4295A>C	6.37:g.7580718A>C	ENSP00000369129:p.Gln1432Pro					DSP_uc003mxq.1_Intron	p.Q1432P	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4574	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1432			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4295A>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584548	0.28268	.	.	ENSG00000096696	ENST00000379802	D	0.93426	-3.22	5.65	5.65	0.86999	.	0.102638	0.43579	D	0.000547	D	0.87402	0.6168	L	0.52573	1.65	0.80722	D	1	B	0.27068	0.167	B	0.22386	0.039	D	0.86042	0.1520	10	0.42905	T	0.14	.	15.8725	0.79132	1.0:0.0:0.0:0.0	.	1432	P15924	DESP_HUMAN	P	1432	ENSP00000369129:Q1432P	ENSP00000369129:Q1432P	Q	+	2	0	DSP	7525717	0.988000	0.35896	0.990000	0.47175	0.734000	0.41952	2.829000	0.48128	2.163000	0.67991	0.533000	0.62120	CAG		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		19	63	0	0	0	0.049695	0	19	63		
RIMS1	22999	broad.mit.edu	37	6	72889512	72889512	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:72889512A>T	ENST00000521978.1	+	5	706	c.706A>T	c.(706-708)Agc>Tgc	p.S236C	RIMS1_ENST00000522291.1_Missense_Mutation_p.S236C|RIMS1_ENST00000520567.1_Missense_Mutation_p.S236C|RIMS1_ENST00000348717.5_Missense_Mutation_p.S236C|RIMS1_ENST00000491071.2_Missense_Mutation_p.S236C|RIMS1_ENST00000517960.1_Missense_Mutation_p.S236C|RIMS1_ENST00000518273.1_Missense_Mutation_p.S236C|RIMS1_ENST00000264839.7_Missense_Mutation_p.S236C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	236					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTCCTCCCAGCGCACCACC	0.587																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(706-708)AGC>TGC		regulating synaptic membrane exocytosis 1							48.0	55.0	53.0					6																	72889512		2110	4246	6356	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889512A>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.706A>T	6.37:g.72889512A>T	ENSP00000428417:p.Ser236Cys					RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	p.S236C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			5	783	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	236					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.706A>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.828911	0.32329	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15139	2.45;2.6;2.52;2.6;2.6;2.6;2.59;2.52	5.65	-3.19	0.05171	.	0.531812	0.18322	N	0.144798	T	0.09905	0.0243	L	0.47716	1.5	0.22701	N	0.998832	D	0.52996	0.957	P	0.49047	0.599	T	0.24119	-1.0169	10	0.66056	D	0.02	-0.5106	14.6474	0.68769	0.4092:0.0:0.5908:0.0	.	236	Q86UR5	RIMS1_HUMAN	C	236	ENSP00000430101:S236C;ENSP00000275037:S236C;ENSP00000264839:S236C;ENSP00000429959:S236C;ENSP00000430408:S236C;ENSP00000430502:S236C;ENSP00000430932:S236C;ENSP00000428417:S236C	ENSP00000264839:S236C	S	+	1	0	RIMS1	72946233	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	0.150000	0.16263	-0.487000	0.06735	-0.250000	0.11733	AGC		0.587	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				41	22	0	0	0	0.104719	0	41	22		
BBS9	27241	broad.mit.edu	37	7	33217147	33217147	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:33217147A>G	ENST00000242067.6	+	5	907	c.386A>G	c.(385-387)cAt>cGt	p.H129R	BBS9_ENST00000354265.4_Missense_Mutation_p.H129R|BBS9_ENST00000396127.2_Missense_Mutation_p.H129R|RNA5SP229_ENST00000410809.1_RNA|BBS9_ENST00000355070.2_Missense_Mutation_p.H129R|BBS9_ENST00000350941.3_Missense_Mutation_p.H129R|BBS9_ENST00000425508.2_Missense_Mutation_p.H84R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	129					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATGTATGAACATAATCTTCAG	0.343									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(385-387)CAT>CGT		parathyroid hormone-responsive B1 isoform 2							170.0	160.0	164.0					7																	33217147		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33217147A>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.386A>G	7.37:g.33217147A>G	ENSP00000242067:p.His129Arg					BBS9_uc003tdo.1_Missense_Mutation_p.H129R|BBS9_uc003tdp.1_Missense_Mutation_p.H129R|BBS9_uc003tdq.1_Missense_Mutation_p.H129R|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.H129R|BBS9_uc011kao.1_Missense_Mutation_p.H7R	p.H129R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		5	899	+			129					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.386A>G	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724814	0.89298	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.93164	0.6560	10	0.62326	D	0.03	-20.2587	16.1045	0.81212	1.0:0.0:0.0:0.0	.	129;129;129;129;129	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	R	129;129;129;129;129;129;129;84;7;7	ENSP00000242067:H129R;ENSP00000313122:H129R;ENSP00000379433:H129R;ENSP00000347182:H129R;ENSP00000346214:H129R;ENSP00000405151:H84R;ENSP00000388646:H7R	ENSP00000242067:H129R	H	+	2	0	BBS9	33183672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.612000	0.90909	2.267000	0.75376	0.533000	0.62120	CAT		0.343	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				51	55	0	0	0	0.139131	0	51	55		
POU6F2	11281	broad.mit.edu	37	7	39472816	39472816	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:39472816G>T	ENST00000403058.1	+	8	1321	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	POU6F2_ENST00000559001.1_Silent_p.G334G|POU6F2_ENST00000518318.2_Silent_p.G389G	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	389	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGTCATTGGGAACCAGATCC	0.612																																						uc003thb.1		NaN																	0				central_nervous_system(1)	1						c.(1165-1167)GGG>GGT		POU class 6 homeobox 2 isoform 1							124.0	94.0	104.0					7																	39472816		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39472816G>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1167G>T	7.37:g.39472816G>T							p.G389G	NM_007252	NP_009183	P78424	PO6F2_HUMAN			7	1209	+			389			Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1167G>T	CCDS34620.2																																																																																				0.612	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3		NM_007252		12	76	1	0	5.50884e-06	0.09319	5.71477e-06	12	76		
ST7	7982	broad.mit.edu	37	7	116869933	116869933	+	3'UTR	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:116869933A>C	ENST00000393446.2	+	0	1897				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393444.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCTCCACTCACCTCACCCGC	0.522																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1459-1461)CAC>CCC		suppression of tumorigenicity 7 isoform b							60.0	54.0	56.0					7																	116869933		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869933A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*22A>C	7.37:g.116869933A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.H487P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1465	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1460A>C		.	.	.	.	.	.	.	.	.	.	A	5.313	0.243078	0.10077	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.19669	2.13;2.13	5.16	-1.73	0.08081	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.36915	-0.9728	8	0.87932	D	0	.	0.6414	0.00811	0.2562:0.1246:0.2838:0.3355	.	487	C9JU30	.	P	485;487	ENSP00000402934:H485P;ENSP00000419516:H487P	ENSP00000402934:H485P	H	+	2	0	ST7	116657169	0.000000	0.05858	0.023000	0.16930	0.030000	0.12068	-0.545000	0.06069	0.053000	0.16036	-0.371000	0.07208	CAC		0.522	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		26	55	0	0	0	0.124865	0	26	55		
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393444.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		18	50	0	0	0	0.139131	0	18	50		
SSPO	23145	broad.mit.edu	37	7	149508082	149508082	+	RNA	SNP	G	G	A	rs374837960	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:149508082G>A	ENST00000378016.2	+	0	9476							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGTGGTTCGTCCATGTGAA	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14020	0.001		0.0	False		,,,				2504	0.0					uc010lpk.2		NaN																	0					0						c.(9475-9477)CGT>CAT		SCO-spondin precursor		G		1,4015		0,1,2007	48.0	55.0	52.0		9486	-0.3	0.0	7		52	0,8308		0,0,4154	no	coding-notMod3	SSPO	NM_198455.2		0,1,6161	AA,AG,GG		0.0,0.0249,0.0081			149508082	1,12323	2008	4154	6162			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508082G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508082G>A							p.R3159H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9476	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3159					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9476G>A																																																																																					0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					12	36	0	0	0	0.080935	0	12	36		
C8orf74	203076	broad.mit.edu	37	8	10555320	10555320	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:10555320C>T	ENST00000304519.5	+	3	482	c.453C>T	c.(451-453)ctC>ctT	p.L151L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCCCTCCCGCTGGCCG	0.652																																						uc003wtd.1		NaN																	0					0						c.(451-453)CTC>CTT		hypothetical protein LOC203076							83.0	88.0	87.0					8																	10555320		2135	4227	6362	SO:0001819	synonymous_variant	203076							g.chr8:10555320C>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.453C>T	8.37:g.10555320C>T						C8orf74_uc003wte.1_RNA	p.L151L	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	482	+			151					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.453C>T	CCDS47800.1																																																																																				0.652	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1		NM_001040032		34	38	0	0	0	0.183431	0	34	38		
ZHX2	22882	broad.mit.edu	37	8	123965291	123965291	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:123965291C>T	ENST00000314393.4	+	3	2376	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCCATCGCGGCCTCCCGA	0.537																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1		NaN																	0				ovary(1)|skin(1)	2						c.(1540-1542)GCG>GTG		zinc fingers and homeoboxes 2							73.0	59.0	64.0					8																	123965291		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965291C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1541C>T	8.37:g.123965291C>T	ENSP00000314709:p.Ala514Val						p.A514V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2108	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		514						Missense_Mutation	SNP	ENST00000314393.4	37	c.1541C>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	6.169	0.399310	0.11696	.	.	ENSG00000178764	ENST00000314393	T	0.17691	2.26	5.7	5.7	0.88788	.	0.359384	0.29342	N	0.012426	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.23619	-1.0183	10	0.21540	T	0.41	-4.5419	13.0855	0.59138	0.0:0.9269:0.0:0.0731	.	514	Q9Y6X8	ZHX2_HUMAN	V	514	ENSP00000314709:A514V	ENSP00000314709:A514V	A	+	2	0	ZHX2	124034472	0.342000	0.24809	0.020000	0.16555	0.630000	0.37929	5.052000	0.64263	2.711000	0.92665	0.561000	0.74099	GCG		0.537	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1		NM_014943		33	18	0	0	0	0.163468	0	33	18		
EPPK1	83481	broad.mit.edu	37	8	144940347	144940347	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:144940347C>T	ENST00000525985.1	-	2	7146	c.7075G>A	c.(7075-7077)Gtg>Atg	p.V2359M				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.692																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(15085-15087)GTG>ATG		epiplakin 1							199.0	194.0	195.0					8																	144940347		2173	4244	6417	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940347C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7075G>A	8.37:g.144940347C>T	ENSP00000436337:p.Val2359Met						p.V5029M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15098	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5029			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15085G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.099306	0.94197	.	.	ENSG00000227184	ENST00000525985	T	0.77877	-1.13	4.39	4.39	0.52855	.	.	.	.	.	D	0.87877	0.6288	M	0.81112	2.525	0.47308	D	0.999386	D	0.89917	1.0	D	0.97110	1.0	D	0.89429	0.3715	9	0.72032	D	0.01	.	14.9269	0.70887	0.0:1.0:0.0:0.0	.	2359	E9PPU0	.	M	2359	ENSP00000436337:V2359M	ENSP00000436337:V2359M	V	-	1	0	EPPK1	145012335	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	3.861000	0.56002	2.451000	0.82905	0.586000	0.80456	GTG		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		49	731	0	0	0	0.139131	0	49	731		
TLE1	7088	broad.mit.edu	37	9	84300624	84300624	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:84300624C>A	ENST00000376499.3	-	4	1265	c.201G>T	c.(199-201)atG>atT	p.M67I	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.M11I	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	67	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATCCATATGACATTTCATAAT	0.294																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-201)ATG>ATT		transducin-like enhancer protein 1							79.0	72.0	74.0					9																	84300624		2202	4299	6501	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84300624C>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.201G>T	9.37:g.84300624C>A	ENSP00000365682:p.Met67Ile					TLE1_uc004alz.2_Missense_Mutation_p.M67I|TLE1_uc011lsr.1_Missense_Mutation_p.M67I|TLE1_uc004ama.1_Missense_Mutation_p.M67I|TLE1_uc011lss.1_Missense_Mutation_p.M67I|TLE1_uc004amb.2_Missense_Mutation_p.M67I	p.M67I	NM_005077	NP_005068	Q04724	TLE1_HUMAN			4	642	-			67			Gln-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.201G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882282	0.72294	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.59502	0.26;0.92;0.32	5.8	5.8	0.92144	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.87180	2.865	0.80722	D	1	P;D;D;D;P;D	0.57899	0.705;0.96;0.973;0.973;0.587;0.981	P;D;D;D;B;D	0.79108	0.708;0.989;0.915;0.964;0.444;0.992	T	0.83035	-0.0160	10	0.87932	D	0	-27.7877	19.0345	0.92971	0.0:1.0:0.0:0.0	.	67;67;67;94;67;67	B4E345;B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;.;TLE1_HUMAN	I	67;67;67;11	ENSP00000365682:M67I;ENSP00000391347:M67I;ENSP00000365646:M11I	ENSP00000347102:M67I	M	-	3	0	TLE1	83490444	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.412000	0.80091	2.729000	0.93468	0.561000	0.74099	ATG		0.294	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077		5	11	1	0	5.9392e-07	0.021553	6.27858e-07	5	11		
HABP4	22927	broad.mit.edu	37	9	99250477	99250477	+	Missense_Mutation	SNP	G	G	A	rs141094261	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:99250477G>A	ENST00000375249.4	+	7	1181	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HABP4_ENST00000375251.3_Missense_Mutation_p.R264H|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGTCCTGGGCGTGGAGCCAGA	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19581	0.0		0.0	False		,,,				2504	0.0					uc010msg.2		NaN																	0				ovary(1)	1						c.(1105-1107)CGT>CAT		hyaluronan binding protein 4		G	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	117.0	115.0	116.0		1106	5.0	1.0	9	dbSNP_134	116	0,8600		0,0,4300	yes	missense	HABP4	NM_014282.2	29	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	369/414	99250477	7,12999	2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250477G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1106G>A	9.37:g.99250477G>A	ENSP00000364398:p.Arg369His					HABP4_uc010msh.2_Missense_Mutation_p.R264H	p.R369H	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN			7	1254	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	369						Missense_Mutation	SNP	ENST00000375249.4	37	c.1106G>A	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045262	0.75846	0.001589	0.0	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.47177	0.85;0.85	5.02	5.02	0.67125	.	0.049571	0.85682	D	0.000000	T	0.66386	0.2784	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.98	T	0.66956	-0.5792	10	0.56958	D	0.05	-9.842	17.0571	0.86537	0.0:0.0:1.0:0.0	.	264;369	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	H	264;369	ENSP00000364400:R264H;ENSP00000364398:R369H	ENSP00000364398:R369H	R	+	2	0	HABP4	98290298	1.000000	0.71417	0.987000	0.45799	0.229000	0.25112	5.398000	0.66308	2.760000	0.94817	0.655000	0.94253	CGT		0.552	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1		NM_014282		22	33	0	0	0	0.055883	0	22	33		
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A	rs371371607		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000297826.5_Silent_p.A974A|SVEP1_ENST00000374469.1_Silent_p.A3025A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGGCCATCGGCTTCACAGG	0.498																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(9142-9144)GCC>GCT		polydom		G		0,3834		0,0,1917	50.0	50.0	50.0		9144	4.8	1.0	9		50	1,8285		0,1,4142	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6059	AA,AG,GG		0.0121,0.0,0.0083		3048/3572	113168736	1,12119	1917	4143	6060	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168736G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9144C>T	9.37:g.113168736G>A						SVEP1_uc010mty.2_Silent_p.A974A	p.A3048A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	9481	-			3048			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.9144C>T	CCDS48004.1																																																																																				0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					20	50	0	0	0	0.055883	0	20	50		
PAPPA	5069	broad.mit.edu	37	9	119115032	119115032	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:119115032C>G	ENST00000328252.3	+	16	4381	c.4012C>G	c.(4012-4014)Cca>Gca	p.P1338A	PAPPA_ENST00000534838.1_Missense_Mutation_p.P376A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1338	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGTCCTTCCCAGAGGCCCT	0.602																																						uc004bjn.2		NaN																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(4012-4014)CCA>GCA		pregnancy-associated plasma protein A							93.0	75.0	81.0					9																	119115032		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119115032C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4012C>G	9.37:g.119115032C>G	ENSP00000330658:p.Pro1338Ala					PAPPA_uc011lxq.1_Missense_Mutation_p.P713A	p.P1338A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			16	4393	+			1338			Sushi 2.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4012C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191465	0.94923	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.65178	-0.14;-0.14	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82604	0.5073	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84407	0.0563	10	0.72032	D	0.01	-11.344	19.9141	0.97043	0.0:1.0:0.0:0.0	.	376;1338	F5GZ19;Q13219	.;PAPP1_HUMAN	A	1338;376	ENSP00000330658:P1338A;ENSP00000441461:P376A	ENSP00000330658:P1338A	P	+	1	0	PAPPA	118154853	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.722000	0.84778	2.698000	0.92095	0.655000	0.94253	CCA		0.602	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581		24	21	0	0	0	0.0918	0	24	21		
SNAPC4	6621	broad.mit.edu	37	9	139273307	139273307	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:139273307G>A	ENST00000298532.2	-	21	3340	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGAGAAGACAGGAGCGAGGGG	0.667																																						uc004chh.2		NaN																	0					0						c.(2971-2973)CCT>CTT		small nuclear RNA activating complex,							20.0	23.0	22.0					9																	139273307		2196	4297	6493	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273307G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2972C>T	9.37:g.139273307G>A	ENSP00000298532:p.Pro991Leu						p.P991L	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2981	-		Myeloproliferative disorder(178;0.0511)	991			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.2972C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	7.942	0.742953	0.15642	.	.	ENSG00000165684	ENST00000298532	T	0.28666	1.6	2.96	1.56	0.23342	.	2.419240	0.01904	N	0.039401	T	0.22936	0.0554	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17471	-1.0368	10	0.11182	T	0.66	.	7.5142	0.27592	0.189:0.0:0.811:0.0	.	991	Q5SXM2	SNPC4_HUMAN	L	991	ENSP00000298532:P991L	ENSP00000298532:P991L	P	-	2	0	SNAPC4	138393128	0.002000	0.14202	0.000000	0.03702	0.091000	0.18340	1.104000	0.31074	0.147000	0.19030	0.313000	0.20887	CCT		0.667	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		7	7	0	0	0	0.02938	0	7	7		
DMD	1756	broad.mit.edu	37	X	32486811	32486811	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:32486811A>G	ENST00000357033.4	-	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	DMD_ENST00000378677.2_Missense_Mutation_p.L985P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	989					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCTCTTGCAGAGAACTTTG	0.328																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2965-2967)CTG>CCG		dystrophin Dp427m isoform							53.0	47.0	49.0					X																	32486811		2201	4298	6499	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486811A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2966T>C	X.37:g.32486811A>G	ENSP00000354923:p.Leu989Pro					DMD_uc004dcz.2_Missense_Mutation_p.L866P|DMD_uc004dcy.1_Missense_Mutation_p.L985P|DMD_uc004ddb.1_Missense_Mutation_p.L981P|DMD_uc010ngo.1_Intron	p.L989P	NM_004006	NP_003997	P11532	DMD_HUMAN			23	3210	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	989			Spectrin 6.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2966T>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231217	0.58777	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.59083	0.29;0.29	5.12	5.12	0.69794	.	0.000000	0.27730	U	0.018087	T	0.66336	0.2779	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.77004	0.962;0.989;0.977	T	0.70103	-0.4964	10	0.87932	D	0	.	14.1547	0.65410	1.0:0.0:0.0:0.0	.	981;989;985	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	P	981;985;989;989;866	ENSP00000367948:L985P;ENSP00000354923:L989P	ENSP00000354923:L989P	L	-	2	0	DMD	32396732	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.348000	0.73009	1.789000	0.52484	0.437000	0.28790	CTG		0.328	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		14	50	0	0	0	0.105934	0	14	50		
BMP15	9210	broad.mit.edu	37	X	50659529	50659529	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:50659529C>T	ENST00000252677.3	+	2	1101	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	367					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAATTAGTGTCCTTATGATTG	0.463																																						uc011mnw.1		NaN																	0				ovary(2)	2						c.(1099-1101)GTC>GTT		bone morphogenetic protein 15 precursor							99.0	89.0	93.0					X																	50659529		2203	4299	6502	SO:0001819	synonymous_variant	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659529C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1101C>T	X.37:g.50659529C>T							p.V367V	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	1101	+	Ovarian(276;0.236)		367					Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	ENST00000252677.3	37	c.1101C>T	CCDS14334.1																																																																																				0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1		NM_005448		25	97	0	0	0	0.076483	0	25	97		
RGAG4	340526	broad.mit.edu	37	X	71351227	71351227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:71351227C>T	ENST00000545866.1	-	1	531	c.164G>A	c.(163-165)cGc>cAc	p.R55H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R55H|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	55										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TACTGGCCAGCGGATGTAGCT	0.587																																						uc010nlh.1		NaN																	0				ovary(2)|skin(1)	3						c.(163-165)CGC>CAC		retrotransposon gag domain containing 4							48.0	51.0	50.0					X																	71351227		1940	4120	6060	SO:0001583	missense	340526							g.chrX:71351227C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.164G>A	X.37:g.71351227C>T	ENSP00000441366:p.Arg55His					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	p.R55H	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	525	-	Renal(35;0.156)		55					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.164G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042866	0.55003	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.18960	2.18;2.18	4.25	4.25	0.50352	.	.	.	.	.	T	0.20414	0.0491	N	0.19112	0.55	0.27507	N	0.951802	D	0.76494	0.999	P	0.51833	0.681	T	0.03957	-1.0989	8	.	.	.	.	10.9913	0.47551	0.0:1.0:0.0:0.0	.	55	Q5HYW3	RGAG4_HUMAN	H	55	ENSP00000441366:R55H;ENSP00000418667:R55H	.	R	-	2	0	RGAG4	71267952	1.000000	0.71417	0.894000	0.35097	0.900000	0.52787	1.069000	0.30641	2.359000	0.80004	0.556000	0.70494	CGC		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		NM_001024455		19	50	0	0	0	0.055883	0	19	50		
TBX22	50945	broad.mit.edu	37	X	79283540	79283540	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:79283540C>T	ENST00000373294.5	+	7	942	c.914C>T	c.(913-915)aCt>aTt	p.T305I	TBX22_ENST00000442340.1_Missense_Mutation_p.T185I|TBX22_ENST00000373291.1_Missense_Mutation_p.T185I|TBX22_ENST00000373296.3_Missense_Mutation_p.T305I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	305					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTCTTTCACTCTCGATTTT	0.383																																						uc010nmg.1		NaN																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(913-915)ACT>ATT		T-box 22 isoform 1							94.0	86.0	88.0					X																	79283540		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79283540C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.914C>T	X.37:g.79283540C>T	ENSP00000362390:p.Thr305Ile					TBX22_uc004edi.1_Missense_Mutation_p.T185I|TBX22_uc004edj.1_Missense_Mutation_p.T305I	p.T305I	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			8	1048	+			305					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.914C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425770	0.43020	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88741	-2.42;-2.08;-2.42;-2.08	3.88	0.761	0.18448	.	0.478331	0.18874	N	0.128750	D	0.83718	0.5315	M	0.63843	1.955	0.27271	N	0.958367	P	0.45902	0.868	B	0.42319	0.383	T	0.74365	-0.3689	10	0.34782	T	0.22	.	4.1877	0.10405	0.1573:0.5907:0.1521:0.0999	.	305	Q9Y458	TBX22_HUMAN	I	305;185;305;185	ENSP00000362393:T305I;ENSP00000396394:T185I;ENSP00000362390:T305I;ENSP00000362388:T185I	ENSP00000362388:T185I	T	+	2	0	TBX22	79170196	0.911000	0.30947	0.989000	0.46669	0.698000	0.40448	0.661000	0.25023	0.254000	0.21573	0.594000	0.82650	ACT		0.383	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1		NM_016954		11	15	0	0	0	0.069234	0	11	15		
RBM17	84991	broad.mit.edu	37	10	6139098	6139098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:6139098delA	ENST00000446108.1	+	2	714	c.70delA	c.(70-72)aaafs	p.K24fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.K24fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	24					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CAAAAACTTCAAACTTCTGCA	0.478																																						uc001ijb.2		NaN																	0					0						c.(70-72)AAAfs		RNA binding motif protein 17							103.0	105.0	104.0					10																	6139098		2203	4300	6503	SO:0001589	frameshift_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6139098delA	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.70delA	10.37:g.6139098delA	ENSP00000388638:p.Lys24fs					RBM17_uc010qav.1_Frame_Shift_Del_p.K24fs	p.K24fs	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			2	296	+			24					Q96GY6	Frame_Shift_Del	DEL	ENST00000446108.1	37	c.70delA	CCDS7077.1																																																																																				0.478	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1		NM_032905		32	101	NaN	NaN	NaN	NaN	NaN	32	101	---	---
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C	rs370431415		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3		NaN																	0				pancreas(1)	1						c.(226-231)GGGCCCfs		neurotrophin 3 isoform 2 preproprotein																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_uc001qnk.3_Frame_Shift_Ins_p.G89fs	p.G76fs	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	311_312	+			76_77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.228_229insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1				37	87	NaN	NaN	NaN	NaN	NaN	37	87	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						uc003azs.2		NaN																	0					0						c.(1099-1104)GAGGAA>GAA		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_uc003azt.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_In_Frame_Del_p.312_313EE>E	p.367_368EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN			10	2571_2573	-			367_368			Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1		NM_002883		8	120	NaN	NaN	NaN	NaN	NaN	8	120	---	---
