#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
ARHGEF19	128272	broad.mit.edu	37	1	16531255	16531255	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:16531255C>T	ENST00000270747.3	-	12	2042	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	636	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACTCACTCCTTCCGCCGA	0.617																																						uc001ayc.1		NaN																	0				skin(2)|ovary(1)	3						c.(1906-1908)GAG>AAG		Rho guanine nucleotide exchange factor (GEF) 19							39.0	39.0	39.0					1																	16531255		2203	4300	6503	SO:0001630	splice_region_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16531255C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1907+1G>A	1.37:g.16531255C>T						ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.E113K	p.E636K	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	12	2043	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	636			PH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1906G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580034	0.86645	.	.	ENSG00000142632	ENST00000270747	T	0.62105	0.05	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.222143	0.37348	N	0.002138	T	0.68751	0.3035	L	0.56280	1.765	0.80722	D	1	P	0.51537	0.946	P	0.55161	0.77	T	0.69423	-0.5149	10	0.42905	T	0.14	.	14.5182	0.67833	0.0:1.0:0.0:0.0	.	636	Q8IW93	ARHGJ_HUMAN	K	636	ENSP00000270747:E636K	ENSP00000270747:E636K	E	-	1	0	ARHGEF19	16403842	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.132000	0.64758	2.272000	0.75746	0.561000	0.74099	GAG		0.617	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1		NM_153213	Missense_Mutation	10	20	0	0	0	0.010729	0	10	20		
LUZP1	7798	broad.mit.edu	37	1	23418665	23418665	+	Missense_Mutation	SNP	C	C	T	rs141739515		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:23418665C>T	ENST00000302291.4	-	4	2891	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	LUZP1_ENST00000418342.1_Missense_Mutation_p.R697Q|LUZP1_ENST00000374623.3_Missense_Mutation_p.R697Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.R697Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	697					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTGCCCCTCGGGTTTTAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20331	0.0		0.001	False		,,,				2504	0.0					uc001bgk.2		NaN																	0					0						c.(2089-2091)CGA>CAA		leucine zipper protein 1							228.0	242.0	238.0					1																	23418665		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418665C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2090G>A	1.37:g.23418665C>T	ENSP00000303758:p.Arg697Gln					LUZP1_uc010odv.1_Missense_Mutation_p.R697Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R697Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R697Q	p.R697Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2474	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	697					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2090G>A	CCDS30628.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.00	3.526040	0.64860	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.16324	2.56;2.56;2.56;2.35	5.12	5.12	0.69794	.	0.000000	0.40818	N	0.001011	T	0.36580	0.0972	L	0.57536	1.79	0.19775	N	0.999954	D;D	0.89917	1.0;1.0	D;D	0.63033	0.91;0.91	T	0.07888	-1.0749	10	0.42905	T	0.14	.	17.7771	0.88513	0.0:1.0:0.0:0.0	.	697;697	Q86V48-2;Q86V48	.;LUZP1_HUMAN	Q	697	ENSP00000393460:R697Q;ENSP00000363752:R697Q;ENSP00000303758:R697Q;ENSP00000313705:R697Q	ENSP00000303758:R697Q	R	-	2	0	LUZP1	23291252	1.000000	0.71417	0.797000	0.32132	0.458000	0.32498	2.752000	0.47516	2.669000	0.90835	0.585000	0.79938	CGA		0.463	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		19	382	0	0	0	0.008871	0	19	382		
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:29070328G>A	ENST00000373812.3	+	4	1908	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	YTHDF2_ENST00000542507.1_Missense_Mutation_p.E516K|YTHDF2_ENST00000541996.1_Missense_Mutation_p.E466K|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	516	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.E516Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478																																						uc001brc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1546-1548)GAG>AAG		high glucose-regulated protein 8							65.0	64.0	64.0					1																	29070328		1923	4133	6056	SO:0001583	missense	51441				humoral immune response			g.chr1:29070328G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1546G>A	1.37:g.29070328G>A	ENSP00000362918:p.Glu516Lys					YTHDF2_uc001brd.2_Missense_Mutation_p.E513K|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466K|YTHDF2_uc001bre.2_Missense_Mutation_p.E466K	p.E516K	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	2043	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	516			YTH.		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1546G>A	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291418	0.80914	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.29142	1.58;1.58;1.58	5.89	5.89	0.94794	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.79475	2.455	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.62014	0.897;0.897	T	0.53669	-0.8406	9	.	.	.	-16.4209	19.029	0.92948	0.0:0.0:1.0:0.0	.	516;516	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	K	516;516;466;516	ENSP00000444660:E516K;ENSP00000362918:E516K;ENSP00000439394:E466K	.	E	+	1	0	YTHDF2	28942915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.764000	0.98949	2.793000	0.96121	0.643000	0.83706	GAG		0.478	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1		NM_016258		6	94	0	0	0	0.02938	0	6	94		
CMPK1	51727	broad.mit.edu	37	1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:47840885C>T	ENST00000371873.5	+	5	714	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	CMPK1_ENST00000450808.2_Nonsense_Mutation_p.Q140*	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						GACCTACCTTCAGTCAACAAA	0.368																																						uc001cri.2		NaN																	0				ovary(1)	1						c.(565-567)CAG>TAG		UMP-CMP kinase 1 isoform a	Gemcitabine(DB00441)						136.0	145.0	142.0					1																	47840885		2203	4300	6503	SO:0001587	stop_gained	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47840885C>T	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.565C>T	1.37:g.47840885C>T	ENSP00000360939:p.Gln189*					CMPK1_uc010omp.1_Nonsense_Mutation_p.Q140*|CMPK1_uc010omq.1_RNA	p.Q189*	NM_016308	NP_057392	P30085	KCY_HUMAN			5	714	+			157						Nonsense_Mutation	SNP	ENST00000371873.5	37	c.565C>T	CCDS549.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049981	0.75846	.	.	ENSG00000162368	ENST00000371873;ENST00000450808	.	.	.	5.86	4.93	0.64822	.	0.050554	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-9.2748	15.7939	0.78394	0.0:0.7341:0.2659:0.0	.	.	.	.	X	189;140	.	ENSP00000360939:Q189X	Q	+	1	0	CMPK1	47613472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.079000	0.41577	1.429000	0.47314	0.650000	0.86243	CAG		0.368	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2		NM_016308		10	164	0	0	0	0.008291	0	10	164		
LRRC7	57554	broad.mit.edu	37	1	70505042	70505042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:70505042G>A	ENST00000035383.5	+	19	3451	c.3421G>A	c.(3421-3423)Gat>Aat	p.D1141N	LRRC7_ENST00000415775.2_Missense_Mutation_p.D425N|LRRC7_ENST00000310961.5_Missense_Mutation_p.D1146N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D1141N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCCCCAACTGATAGGTACGG	0.572																																						uc001dep.2		NaN																	1	Substitution - Missense(1)	p.D1141N(1)	ovary(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3421-3423)GAT>AAT		leucine rich repeat containing 7							66.0	70.0	69.0					1																	70505042		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505042G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3421G>A	1.37:g.70505042G>A	ENSP00000035383:p.Asp1141Asn					LRRC7_uc009wbg.2_Missense_Mutation_p.D425N|LRRC7_uc001deq.2_Missense_Mutation_p.D382N	p.D1141N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3451	+			1141					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3421G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411525	0.42817	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.46819	0.86;0.89;2.01	5.81	5.81	0.92471	.	0.254776	0.38778	N	0.001570	T	0.54029	0.1833	L	0.54323	1.7	0.44728	D	0.997727	D;B;P	0.55800	0.973;0.447;0.546	P;B;B	0.56434	0.798;0.223;0.156	T	0.55915	-0.8065	10	0.87932	D	0	.	19.0772	0.93168	0.0:0.0:1.0:0.0	.	425;1141;1141	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	N	1146;1141;425;964	ENSP00000309245:D1146N;ENSP00000035383:D1141N;ENSP00000394867:D425N	ENSP00000035383:D1141N	D	+	1	0	LRRC7	70277630	1.000000	0.71417	0.114000	0.21550	0.003000	0.03518	6.407000	0.73280	2.752000	0.94435	0.557000	0.71058	GAT		0.572	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		40	112	0	0	0	0.025465	0	40	112		
COL11A1	1301	broad.mit.edu	37	1	103404632	103404632	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:103404632C>T	ENST00000370096.3	-	44	3709	c.3397G>A	c.(3397-3399)Gag>Aag	p.E1133K	COL11A1_ENST00000358392.2_Missense_Mutation_p.E1145K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1017K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1094K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1133	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCCCGGCTCACCAATTTCA	0.333																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3397-3399)GAG>AAG		alpha 1 type XI collagen isoform A							136.0	138.0	137.0					1																	103404632		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103404632C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3397G>A	1.37:g.103404632C>T	ENSP00000359114:p.Glu1133Lys					COL11A1_uc001duk.2_Missense_Mutation_p.E329K|COL11A1_uc001dum.2_Missense_Mutation_p.E1145K|COL11A1_uc001dun.2_Missense_Mutation_p.E1094K|COL11A1_uc009weh.2_Missense_Mutation_p.E1017K	p.E1133K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	44	3715	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1133			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3397G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339473	0.41398	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.28	4.34	0.51931	.	0.060940	0.64402	D	0.000004	D	0.91280	0.7251	L	0.27975	0.815	0.58432	D	0.999993	B;P;P;P;D	0.61697	0.075;0.917;0.775;0.666;0.99	B;D;B;B;D	0.73380	0.027;0.942;0.225;0.112;0.98	D	0.89772	0.3955	10	0.20519	T	0.43	.	15.964	0.79952	0.0:0.8647:0.1352:0.0	.	1017;1094;1145;1133;353	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1133;1145;1094;353;1017	ENSP00000359114:E1133K;ENSP00000351163:E1145K;ENSP00000302551:E1094K;ENSP00000426533:E1017K	ENSP00000302551:E1094K	E	-	1	0	COL11A1	103177220	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.997000	0.70646	1.308000	0.44962	0.591000	0.81541	GAG		0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		32	81	0	0	0	0.017118	0	32	81		
DENND2C	163259	broad.mit.edu	37	1	115166229	115166229	+	Missense_Mutation	SNP	C	C	T	rs189506550		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:115166229C>T	ENST00000393274.1	-	5	1467	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	DENND2C_ENST00000393277.1_Missense_Mutation_p.R281Q|DENND2C_ENST00000393276.3_Missense_Mutation_p.R281Q|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	281					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCGATTTCGAAAGTGCTG	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14175	0.0		0.0	False		,,,				2504	0.0					uc001efd.1		NaN																	0				skin(3)	3						c.(841-843)CGA>CAA		DENN/MADD domain containing 2C							81.0	78.0	79.0					1																	115166229		2202	4300	6502	SO:0001583	missense	163259							g.chr1:115166229C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.842G>A	1.37:g.115166229C>T	ENSP00000376955:p.Arg281Gln					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R281Q	p.R281Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1544	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	281					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.842G>A	CCDS58018.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.96	3.265173	0.59431	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.46451	3.7;3.76;0.87	6.06	6.06	0.98353	.	0.071451	0.53938	D	0.000043	T	0.45816	0.1361	L	0.36672	1.1	0.48236	D	0.999611	D;D	0.89917	1.0;0.989	D;P	0.83275	0.996;0.615	T	0.07065	-1.0792	10	0.13853	T	0.58	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	281;281	Q68D51;Q68D51-3	DEN2C_HUMAN;.	Q	281	ENSP00000376957:R281Q;ENSP00000376955:R281Q;ENSP00000376958:R281Q	ENSP00000358553:R281Q	R	-	2	0	DENND2C	114967752	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.530000	0.53539	2.882000	0.98803	0.655000	0.94253	CGA		0.303	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459		4	42	0	0	0	0.009096	0	4	42		
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:149871751G>A	ENST00000369153.2	+	3	803	c.139G>A	c.(139-141)Gag>Aag	p.E47K	BOLA1_ENST00000369152.5_Missense_Mutation_p.E47K|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Missense_Mutation_p.E47K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	47						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677																																						uc001etf.2		NaN																	0				ovary(1)	1						c.(139-141)GAG>AAG		bolA-like 1							37.0	38.0	38.0					1																	149871751		2203	4299	6502	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871751G>A	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.139G>A	1.37:g.149871751G>A	ENSP00000358149:p.Glu47Lys						p.E47K	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	260	+	Breast(34;0.0124)|all_hematologic(923;0.127)		47					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.139G>A	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933844	0.73442	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.65178	-0.14;-0.14;-0.14	5.09	5.09	0.68999	.	0.067911	0.64402	D	0.000018	T	0.33294	0.0858	L	0.56280	1.765	0.52099	D	0.999946	B	0.31054	0.306	B	0.29353	0.101	T	0.18713	-1.0328	10	0.06891	T	0.86	-0.7332	9.9031	0.41359	0.0935:0.0:0.9065:0.0	.	47	Q9Y3E2	BOLA1_HUMAN	K	47	ENSP00000358149:E47K;ENSP00000358148:E47K;ENSP00000358146:E47K	ENSP00000358146:E47K	E	+	1	0	BOLA1	148138375	0.997000	0.39634	1.000000	0.80357	0.936000	0.57629	3.274000	0.51631	2.518000	0.84900	0.462000	0.41574	GAG		0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2		NM_016074		4	36	0	0	0	0.009096	0	4	36		
SEMA4A	64218	broad.mit.edu	37	1	156145022	156145022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:156145022C>G	ENST00000368285.3	+	13	1847	c.1580C>G	c.(1579-1581)tCt>tGt	p.S527C	SEMA4A_ENST00000368286.2_Missense_Mutation_p.S395C|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S527C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S395C|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S527C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	527	PSI.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGCCTCCTGTCTGCCCCCAAC	0.617																																						uc001fnl.2		NaN																	0				ovary(1)|skin(1)	2						c.(1579-1581)TCT>TGT		semaphorin B precursor							139.0	139.0	139.0					1																	156145022		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156145022C>G	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1580C>G	1.37:g.156145022C>G	ENSP00000357268:p.Ser527Cys					SEMA4A_uc009wrq.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnm.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnn.2_Missense_Mutation_p.S395C|SEMA4A_uc001fno.2_Missense_Mutation_p.S527C	p.S527C	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			13	1684	+	Hepatocellular(266;0.158)		527			Extracellular (Potential).|PSI.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1580C>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369345	0.42003	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.59	3.67	0.42095	.	.	.	.	.	T	0.21387	0.0515	M	0.68952	2.095	0.09310	N	1	D;D	0.59767	0.986;0.986	P;P	0.61874	0.84;0.895	T	0.07065	-1.0792	9	0.39692	T	0.17	.	6.2769	0.20985	0.0:0.7111:0.1898:0.099	.	395;527	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	C	527;527;395;489;489;395;527	ENSP00000347117:S527C;ENSP00000357268:S527C;ENSP00000357267:S395C;ENSP00000357269:S395C;ENSP00000357265:S527C	ENSP00000347117:S527C	S	+	2	0	SEMA4A	154411646	0.010000	0.17322	0.358000	0.25811	0.204000	0.24138	0.424000	0.21330	1.132000	0.42129	0.561000	0.74099	TCT		0.617	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		68	192	0	0	0	0.01441	0	68	192		
OR10K1	391109	broad.mit.edu	37	1	158435847	158435847	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:158435847C>G	ENST00000289451.2	+	1	576	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGTATTTCATCTGCCCTTCCA	0.547																																						uc010pij.1		NaN																	0				ovary(1)	1						c.(496-498)CTG>GTG		olfactory receptor, family 10, subfamily K,							210.0	200.0	204.0					1																	158435847		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435847C>G	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.496C>G	1.37:g.158435847C>G	ENSP00000289451:p.Leu166Val						p.L166V	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	496	+	all_hematologic(112;0.0378)		166			Extracellular (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.496C>G	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	11.86	1.765648	0.31228	.	.	ENSG00000173285	ENST00000289451	T	0.00285	8.3	4.24	-2.7	0.06004	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33438	N	0.004905	T	0.00178	0.0005	M	0.68593	2.085	0.09310	N	1	D	0.67145	0.996	D	0.63283	0.913	T	0.42344	-0.9457	10	0.62326	D	0.03	.	10.8753	0.46906	0.0:0.4801:0.0:0.5199	.	166	Q8NGX5	O10K1_HUMAN	V	166	ENSP00000289451:L166V	ENSP00000289451:L166V	L	+	1	2	OR10K1	156702471	0.000000	0.05858	0.795000	0.32087	0.637000	0.38172	-0.812000	0.04496	-0.420000	0.07427	-0.262000	0.10625	CTG		0.547	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1				64	180	0	0	0	0.01441	0	64	180		
USP21	27005	broad.mit.edu	37	1	161132715	161132715	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:161132715G>A	ENST00000289865.8	+	6	1121	c.900G>A	c.(898-900)caG>caA	p.Q300Q	USP21_ENST00000368001.1_Silent_p.Q300Q|USP21_ENST00000368002.3_Silent_p.Q300Q	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	300	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGCCAGCAGGATGCCCAAG	0.557																																						uc010pke.1		NaN																	0				ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(898-900)CAG>CAA		ubiquitin-specific protease 21							56.0	59.0	58.0					1																	161132715		2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161132715G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.900G>A	1.37:g.161132715G>A						USP21_uc010pkc.1_Silent_p.Q300Q|USP21_uc010pkd.1_Silent_p.Q300Q|USP21_uc010pkf.1_Silent_p.Q300Q	p.Q300Q	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1277	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		300					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.900G>A	CCDS30920.1																																																																																				0.557	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1				9	78	0	0	0	0.004482	0	9	78		
TPR	7175	broad.mit.edu	37	1	186283842	186283842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:186283842G>A	ENST00000367478.4	-	50	7251	c.6955C>T	c.(6955-6957)Caa>Taa	p.Q2319*	RNU6-1240P_ENST00000365155.1_RNA	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2319					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTTTGGTTGACTACTACTA	0.333			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6955-6957)CAA>TAA		nuclear pore complex-associated protein TPR							117.0	110.0	112.0					1																	186283842		1819	4080	5899	SO:0001587	stop_gained	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186283842G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6955C>T	1.37:g.186283842G>A	ENSP00000356448:p.Gln2319*						p.Q2319*	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	50	7252	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2319					Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	c.6955C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	48	14.671695	0.99805	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.46	5.46	0.80206	.	0.190136	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	17.4796	0.87669	0.0:0.0:1.0:0.0	.	.	.	.	X	2319	.	ENSP00000356448:Q2319X	Q	-	1	0	TPR	184550465	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.673000	0.74482	2.541000	0.85698	0.585000	0.79938	CAA		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		6	58	0	0	0	0.02938	0	6	58		
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:205069074G>A	ENST00000264515.6	-	8	1012	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458																																						uc001hbu.1		NaN																	0				lung(1)	1						c.(871-873)CAT>TAT		retinoblastoma binding protein 5							133.0	137.0	136.0					1																	205069074		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205069074G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.871C>T	1.37:g.205069074G>A	ENSP00000264515:p.His291Tyr					RBBP5_uc010prd.1_Missense_Mutation_p.H326Y|RBBP5_uc001hbv.1_Missense_Mutation_p.H291Y|RBBP5_uc010pre.1_Missense_Mutation_p.H158Y	p.H291Y	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		8	1001	-	Breast(84;0.0505)		291			WD 5.		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.871C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404215	0.96051	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.28895	1.59;1.59	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);	0.138760	0.64402	D	0.000003	T	0.60907	0.2305	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	D;P;D;P	0.69824	0.966;0.854;0.917;0.869	T	0.62435	-0.6855	10	0.87932	D	0	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	164;326;291;291	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	Y	291	ENSP00000264515:H291Y;ENSP00000356132:H291Y	ENSP00000264515:H291Y	H	-	1	0	RBBP5	203335697	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	9.714000	0.98744	2.873000	0.98535	0.563000	0.77884	CAT		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1		NM_005057		47	196	0	0	0	0.01441	0	47	196		
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:5995118C>T	ENST00000379977.3	-	7	841	c.744G>A	c.(742-744)ccG>ccA	p.P248P	IL15RA_ENST00000397250.2_Silent_p.P150P|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000525219.2_Silent_p.P212P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Silent_p.P183P|IL15RA_ENST00000397248.2_Silent_p.P212P|IL15RA_ENST00000528354.1_Silent_p.P215P			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	248					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.P248P(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCAAGTCACCGGCAGAGCCT	0.557																																						uc001iiv.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(742-744)CCG>CCA		interleukin 15 receptor, alpha isoform 1							76.0	76.0	76.0					10																	5995118		2203	4300	6503	SO:0001819	synonymous_variant	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995118C>T	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.744G>A	10.37:g.5995118C>T						IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P	p.P248P	NM_002189	NP_002180	Q13261	I15RA_HUMAN			7	826	-			248			Cytoplasmic (Potential).		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Silent	SNP	ENST00000379977.3	37	c.744G>A	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208715	0.09757	.	.	ENSG00000134470	ENST00000532039	.	.	.	3.56	1.01	0.19927	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	-27.1786	5.1283	0.14896	0.0:0.2535:0.0:0.7465	.	.	.	.	Q	190	.	.	R	-	2	0	IL15RA	6035124	0.995000	0.38212	0.940000	0.37924	0.020000	0.10135	-0.039000	0.12124	0.242000	0.21303	-0.658000	0.03865	CGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2		NM_172200, NM_002189		12	82	0	0	0	0.013537	0	12	82		
ERCC6	2074	broad.mit.edu	37	10	50708622	50708622	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:50708622C>G	ENST00000355832.5	-	7	1725	c.1647G>C	c.(1645-1647)ctG>ctC	p.L549L	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	549	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCTGTAGCTCAGACCTGCCA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(1645-1647)CTG>CTC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							164.0	140.0	148.0					10																	50708622		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50708622C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1647G>C	10.37:g.50708622C>G						ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR	p.L549L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			7	1801	-			549			Helicase ATP-binding.		D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.1647G>C	CCDS7229.1																																																																																				0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		13	114	0	0	0	0.020292	0	13	114		
SRGN	5552	broad.mit.edu	37	10	70863778	70863778	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:70863778G>A	ENST00000242465.3	+	3	419	c.379G>A	c.(379-381)Gat>Aat	p.D127N	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	127					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						AGACGAAAGTGATGCTTTCCA	0.483																																						uc001joz.2		NaN																	0					0						c.(379-381)GAT>AAT		serglycin precursor							105.0	90.0	95.0					10																	70863778		2203	4300	6503	SO:0001583	missense	5552				apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen		g.chr10:70863778G>A	BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.379G>A	10.37:g.70863778G>A	ENSP00000242465:p.Asp127Asn						p.D127N	NM_002727	NP_002718	P10124	SRGN_HUMAN			3	465	+			127					B2R4L7|Q5VW06	Missense_Mutation	SNP	ENST00000242465.3	37	c.379G>A	CCDS7285.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.475588	0.01035	.	.	ENSG00000122862	ENST00000242465	T	0.46819	0.86	4.59	-1.09	0.09904	.	0.634739	0.14833	N	0.295721	T	0.16041	0.0386	N	0.02213	-0.635	0.09310	N	1	B	0.16603	0.018	B	0.20184	0.028	T	0.32981	-0.9886	10	0.02654	T	1	-13.3747	8.0287	0.30453	0.5223:0.0:0.4777:0.0	.	127	P10124	SRGN_HUMAN	N	127	ENSP00000242465:D127N	ENSP00000242465:D127N	D	+	1	0	SRGN	70533784	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.696000	0.05104	-0.282000	0.09128	0.561000	0.74099	GAT		0.483	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1		NM_002727		8	90	0	0	0	0.00308	0	8	90		
H2AFY2	55506	broad.mit.edu	37	10	71871382	71871382	+	Silent	SNP	C	C	T	rs145574275		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:71871382C>T	ENST00000373255.4	+	9	1326	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	354	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCCTGCTCTTCGACAGCGAGA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17887	0.0		0.0	False		,,,				2504	0.0					uc001jqm.2		NaN																	0				skin(1)	1						c.(1060-1062)TTC>TTT		H2A histone family, member Y2		C		7,4399	12.9+/-30.5	0,7,2196	86.0	69.0	75.0		1062	-2.3	1.0	10	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	H2AFY2	NM_018649.2		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		354/373	71871382	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71871382C>T	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.1062C>T	10.37:g.71871382C>T						H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	p.F354F	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN			9	1521	+			354			Macro.		Q5SQT2	Silent	SNP	ENST00000373255.4	37	c.1062C>T	CCDS7296.1																																																																																				0.602	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2		NM_018649		11	46	0	0	0	0.008291	0	11	46		
MRGPRX2	117194	broad.mit.edu	37	11	19077358	19077358	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:19077358G>A	ENST00000329773.2	-	2	679	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	198					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACCCACAGAGAACCATGAAT	0.517																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NaN																	0				ovary(1)	1						c.(592-594)CTC>TTC		MAS-related GPR, member X2							45.0	47.0	46.0					11																	19077358		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077358G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.592C>T	11.37:g.19077358G>A	ENSP00000333800:p.Leu198Phe						p.L198F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	680	-			198			Helical; Name=5; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.592C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	16.53	3.149219	0.57151	.	.	ENSG00000183695	ENST00000329773	T	0.72725	-0.68	4.99	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.451681	0.19071	N	0.123507	T	0.80737	0.4680	M	0.80982	2.52	0.09310	N	1	D	0.67145	0.996	D	0.71656	0.974	T	0.70887	-0.4750	10	0.66056	D	0.02	.	5.862	0.18754	0.095:0.0:0.7127:0.1922	.	198	Q96LB1	MRGX2_HUMAN	F	198	ENSP00000333800:L198F	ENSP00000333800:L198F	L	-	1	0	MRGPRX2	19033934	0.000000	0.05858	0.388000	0.26195	0.189000	0.23516	-0.216000	0.09266	2.778000	0.95560	0.655000	0.94253	CTC		0.517	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1		NM_054030		7	63	0	0	0	0.02938	0	7	63		
CELF1	10658	broad.mit.edu	37	11	47493803	47493803	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:47493803C>T	ENST00000358597.3	-	12	1439	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	CELF1_ENST00000531165.1_Silent_p.K508K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000310513.5_Silent_p.K476K|CELF1_ENST00000361904.3_Silent_p.K477K|CELF1_ENST00000395290.2_Silent_p.K479K|CELF1_ENST00000395292.2_Silent_p.K477K|CELF1_ENST00000532048.1_Silent_p.K506K			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	480					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGCTGTCATTCTTCGAACGTT	0.527																																					Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1438-1440)AAG>AAA		CUG triplet repeat, RNA-binding protein 1							282.0	232.0	249.0					11																	47493803		2201	4298	6499	SO:0001819	synonymous_variant	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47493803C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1440G>A	11.37:g.47493803C>T						CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Silent_p.K477K|CELF1_uc001nfn.2_Silent_p.K476K|CELF1_uc001nfo.1_Silent_p.K506K|CELF1_uc010rhm.1_Silent_p.K479K|CELF1_uc001nfp.2_Silent_p.K508K|CELF1_uc001nfq.1_Silent_p.K480K|CELF1_uc001nfr.1_Silent_p.K480K	p.K480K	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			12	1450	-			480					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	ENST00000358597.3	37	c.1440G>A	CCDS31482.1																																																																																				0.527	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1		NM_006560		18	270	0	0	0	0.0333	0	18	270		
OR4X2	119764	broad.mit.edu	37	11	48267202	48267202	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:48267202G>A	ENST00000302329.3	+	1	595	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCTGCTCTGACACCTTCCT	0.483																																						uc001ngs.1		NaN																	0					0						c.(547-549)GAC>AAC		olfactory receptor, family 4, subfamily X,							269.0	243.0	252.0					11																	48267202		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267202G>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.547G>A	11.37:g.48267202G>A	ENSP00000307751:p.Asp183Asn						p.D183N	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	547	+			183			Extracellular (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.547G>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216385	0.58452	.	.	ENSG00000172208	ENST00000302329	T	0.00231	8.49	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.00412	0.0013	L	0.46819	1.47	0.30499	N	0.770601	D	0.63046	0.992	D	0.70227	0.968	T	0.68258	-0.5456	10	0.51188	T	0.08	.	16.612	0.84885	0.0:0.0:1.0:0.0	.	183	Q8NGF9	OR4X2_HUMAN	N	183	ENSP00000307751:D183N	ENSP00000307751:D183N	D	+	1	0	OR4X2	48223778	0.024000	0.19004	0.999000	0.59377	0.597000	0.36814	0.981000	0.29526	2.496000	0.84212	0.650000	0.86243	GAC		0.483	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2		NM_001004727		15	266	0	0	0	0.028581	0	15	266		
OR5D18	219438	broad.mit.edu	37	11	55587678	55587678	+	Silent	SNP	T	T	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:55587678T>A	ENST00000333976.4	+	1	593	c.573T>A	c.(571-573)tcT>tcA	p.S191S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTCTTGCTCTGATACTTACA	0.398																																						uc010rin.1		NaN																	0				skin(2)|ovary(1)	3						c.(571-573)TCT>TCA		olfactory receptor, family 5, subfamily D,							199.0	178.0	185.0					11																	55587678		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587678T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.573T>A	11.37:g.55587678T>A							p.S191S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	573	+		all_epithelial(135;0.208)	191			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.573T>A	CCDS31510.1																																																																																				0.398	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		16	133	0	0	0	0.0333	0	16	133		
OR5M1	390168	broad.mit.edu	37	11	56380343	56380343	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:56380343G>A	ENST00000526538.1	-	1	635	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAGAATGATGAAGAGAGAGC	0.473																																						uc001nja.1		NaN																	0				central_nervous_system(1)	1						c.(634-636)TTC>TTT		olfactory receptor, family 5, subfamily M,							69.0	65.0	66.0					11																	56380343		1880	4108	5988	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380343G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.636C>T	11.37:g.56380343G>A							p.F212F	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	636	-			212			Helical; Name=5; (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.636C>T	CCDS53631.1																																																																																				0.473	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1		NM_001004740		16	98	0	0	0	0.028581	0	16	98		
ATG2A	23130	broad.mit.edu	37	11	64669802	64669802	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:64669802G>C	ENST00000377264.3	-	28	3946	c.3834C>G	c.(3832-3834)atC>atG	p.I1278M	ATG2A_ENST00000421419.2_Missense_Mutation_p.I1280M	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1278					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACGCTGGTTGATGAGGGCCG	0.672																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3832-3834)ATC>ATG		autophagy related 2A							24.0	25.0	25.0					11																	64669802		2195	4296	6491	SO:0001583	missense	23130						protein binding	g.chr11:64669802G>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3834C>G	11.37:g.64669802G>C	ENSP00000366475:p.Ile1278Met					ATG2A_uc001obw.2_Missense_Mutation_p.I43M	p.I1278M	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			28	3949	-			1278					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3834C>G	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.80|11.80	1.746514|1.746514	0.30955|0.30955	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.07567|.	3.18;3.19|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60907|0.60907	0.2305|0.2305	L|L	0.54323|0.54323	1.7|1.7	0.44702|0.44702	D|D	0.99769|0.99769	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.991;0.997|.	T|T	0.58994|0.58994	-0.7537|-0.7537	10|5	0.33141|.	T|.	0.24|.	.|.	10.9939|10.9939	0.47565|0.47565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1278;1280|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	M|E	1280;1278|1082	ENSP00000410522:I1280M;ENSP00000366475:I1278M|.	ENSP00000366475:I1278M|.	I|Q	-|-	3|1	3|0	ATG2A|ATG2A	64426378|64426378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.448000|0.448000	0.32197|0.32197	3.466000|3.466000	0.53071|0.53071	2.039000|2.039000	0.60335|0.60335	0.462000|0.462000	0.41574|0.41574	ATC|CAA		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		3	18	0	0	0	0.004672	0	3	18		
C11orf30	56946	broad.mit.edu	37	11	76171016	76171016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:76171016C>T	ENST00000529032.1	+	5	458	c.458C>T	c.(457-459)cCa>cTa	p.P153L	C11orf30_ENST00000343878.3_Missense_Mutation_p.P153L|C11orf30_ENST00000334736.3_Missense_Mutation_p.P153L|C11orf30_ENST00000533248.1_Missense_Mutation_p.P167L|C11orf30_ENST00000524490.1_Missense_Mutation_p.P154L|C11orf30_ENST00000524767.1_Missense_Mutation_p.P168L|C11orf30_ENST00000525038.1_Missense_Mutation_p.P168L|C11orf30_ENST00000525919.1_Missense_Mutation_p.P154L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	153	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACGTCAACCCCAACCTCTACC	0.458																																						uc001oxl.2		NaN																	0				ovary(5)|skin(1)	6						c.(457-459)CCA>CTA		EMSY protein							203.0	174.0	184.0					11																	76171016		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76171016C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.458C>T	11.37:g.76171016C>T	ENSP00000432327:p.Pro153Leu					C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Missense_Mutation_p.P168L|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Missense_Mutation_p.P154L|C11orf30_uc010rsb.1_Missense_Mutation_p.P168L|C11orf30_uc010rsc.1_Missense_Mutation_p.P168L|C11orf30_uc001oxn.2_Missense_Mutation_p.P154L|C11orf30_uc010rsd.1_Missense_Mutation_p.P167L	p.P153L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			6	601	+			153			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.458C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705398	0.68615	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.99	4.99	0.66335	.	0.068038	0.64402	D	0.000007	T	0.47801	0.1465	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.983;0.991	P;P;P;P;P;P	0.58013	0.831;0.781;0.781;0.781;0.656;0.781	T	0.38628	-0.9652	10	0.33940	T	0.23	-5.0848	18.6473	0.91415	0.0:1.0:0.0:0.0	.	167;168;168;154;154;153	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	L	154;153;153;168;167;154;168;153	ENSP00000431166:P154L;ENSP00000334130:P153L;ENSP00000344688:P153L;ENSP00000433205:P168L;ENSP00000433634:P167L;ENSP00000432010:P154L;ENSP00000436968:P168L;ENSP00000432327:P153L	ENSP00000334130:P153L	P	+	2	0	C11orf30	75848664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.471000	0.83476	0.591000	0.81541	CCA		0.458	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		33	179	0	0	0	0.012213	0	33	179		
GUCY1A2	2977	broad.mit.edu	37	11	106558346	106558346	+	Missense_Mutation	SNP	G	G	C	rs367780886		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:106558346G>C	ENST00000526355.2	-	8	2596	c.2128C>G	c.(2128-2130)Ctt>Gtt	p.L710V	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L731V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L741V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	710					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GACGAAGAAAGAGAAGGCTTT	0.488																																						uc001pjg.1		NaN																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(2128-2130)CTT>GTT		guanylate cyclase 1, soluble, alpha 2							161.0	159.0	160.0					11																	106558346		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558346G>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2128C>G	11.37:g.106558346G>C	ENSP00000431245:p.Leu710Val					GUCY1A2_uc010rvo.1_Missense_Mutation_p.L731V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.L741V	p.L710V	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2518	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	710					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2128C>G	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236937	0.22711	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86769	-1.82;-2.17;-1.81	4.85	2.84	0.33178	.	0.854162	0.09633	U	0.776051	T	0.74786	0.3762	N	0.19112	0.55	0.38052	D	0.935792	B;B;B	0.23058	0.079;0.002;0.079	B;B;B	0.25405	0.06;0.004;0.02	T	0.66646	-0.5871	10	0.15952	T	0.53	.	4.424	0.11495	0.1852:0.0:0.5842:0.2306	.	731;741;710	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	V	710;741;731	ENSP00000431245:L710V;ENSP00000282249:L741V;ENSP00000344874:L731V	ENSP00000282249:L741V	L	-	1	0	GUCY1A2	106063556	1.000000	0.71417	0.870000	0.34147	0.962000	0.63368	1.676000	0.37565	1.410000	0.46936	0.305000	0.20034	CTT		0.488	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2				16	154	0	0	0	0.024245	0	16	154		
FDXACB1	91893	broad.mit.edu	37	11	111746739	111746739	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:111746739C>A	ENST00000260257.4	-	5	829	c.782G>T	c.(781-783)aGg>aTg	p.R261M	ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R112M|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000527377.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	261					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ACACTTCAGCCTTTTTAGCGG	0.423																																						uc001pmc.3		NaN																	0					0						c.(781-783)AGG>ATG		ferredoxin-fold anticodon binding domain							115.0	111.0	112.0					11																	111746739		1861	4093	5954	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746739C>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.782G>T	11.37:g.111746739C>A	ENSP00000260257:p.Arg261Met					ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R112M	p.R261M	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			5	1079	-			261					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.782G>T	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	5.338	0.247700	0.10130	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.71934	0.36;-0.61;0.9	6.17	3.24	0.37175	.	0.261782	0.49305	N	0.000143	T	0.62405	0.2425	L	0.60455	1.87	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.52852	-0.8520	10	0.35671	T	0.21	.	7.9275	0.29883	0.2373:0.6456:0.0:0.1171	.	261	Q9BRP7	FDXA1_HUMAN	M	261;112;172	ENSP00000260257:R261M;ENSP00000441304:R112M;ENSP00000435572:R172M	ENSP00000260257:R261M	R	-	2	0	FDXACB1	111251949	0.003000	0.15002	0.988000	0.46212	0.543000	0.35085	1.370000	0.34238	0.892000	0.36259	-0.181000	0.13052	AGG		0.423	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1		NM_138378		19	108	1	0	1.67942e-08	0.006122	1.75023e-08	19	108		
NLRX1	79671	broad.mit.edu	37	11	119045225	119045225	+	Missense_Mutation	SNP	C	C	T	rs149154497		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:119045225C>T	ENST00000409109.1	+	6	1500	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	NLRX1_ENST00000525863.1_Missense_Mutation_p.R305C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R305C|NLRX1_ENST00000409991.1_Missense_Mutation_p.R305C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R305C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTACGTGGGCCGCTATGGTGA	0.567																																						uc001pvu.2		NaN																	0				ovary(1)|skin(1)	2						c.(913-915)CGC>TGC		NLR family member X1 isoform 1		C	CYS/ARG,CYS/ARG	0,4400		0,0,2200	140.0	141.0	141.0		913,913	6.1	1.0	11	dbSNP_134	141	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	NLRX1	NM_024618.2,NM_170722.1	180,180	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	305/976,305/922	119045225	1,12989	2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045225C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.913C>T	11.37:g.119045225C>T	ENSP00000387334:p.Arg305Cys					NLRX1_uc010rzc.1_Missense_Mutation_p.R127C|NLRX1_uc001pvv.2_Missense_Mutation_p.R305C|NLRX1_uc001pvw.2_Missense_Mutation_p.R305C|NLRX1_uc001pvx.2_Missense_Mutation_p.R305C	p.R305C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1128	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	305			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.913C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774298	0.90108	0.0	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87377	0.2354	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	305;305	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	305	ENSP00000386851:R305C;ENSP00000292199:R305C;ENSP00000386858:R305C;ENSP00000387334:R305C;ENSP00000433442:R305C	ENSP00000292199:R305C	R	+	1	0	NLRX1	118550435	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.422000	0.80217	2.884000	0.98904	0.655000	0.94253	CGC		0.567	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1		NM_170722		12	194	0	0	0	0.010729	0	12	194		
PZP	5858	broad.mit.edu	37	12	9313698	9313698	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:9313698C>G	ENST00000261336.2	-	23	2831	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q	PZP_ENST00000381997.2_Missense_Mutation_p.E721Q|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	935					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GACAACTGCTCAGACACATTA	0.413																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2803-2805)GAG>CAG		pregnancy-zone protein precursor							98.0	93.0	95.0					12																	9313698		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9313698C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2803G>C	12.37:g.9313698C>G	ENSP00000261336:p.Glu935Gln					PZP_uc009zgl.2_Missense_Mutation_p.E721Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.L166L	p.E935Q	NM_002864	NP_002855					23	2832	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2803G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229478	0.22542	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	2.24;1.24	3.8	2.9	0.33743	.	0.111300	0.37437	U	0.002095	T	0.54647	0.1871	M	0.83012	2.62	0.28991	N	0.888071	D;P	0.63046	0.992;0.866	P;B	0.58391	0.838;0.391	T	0.55095	-0.8194	10	0.44086	T	0.13	.	11.6033	0.51017	0.0:0.908:0.0:0.092	.	721;935	P20742-2;P20742	.;PZP_HUMAN	Q	935;721	ENSP00000261336:E935Q;ENSP00000371427:E721Q	ENSP00000261336:E935Q	E	-	1	0	PZP	9204965	0.012000	0.17670	0.439000	0.26833	0.016000	0.09150	0.718000	0.25866	0.895000	0.36342	0.563000	0.77884	GAG		0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		31	86	0	0	0	0.010818	0	31	86		
RECQL	5965	broad.mit.edu	37	12	21624476	21624476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:21624476G>A	ENST00000444129.2	-	13	2021	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	RECQL_ENST00000421138.2_Missense_Mutation_p.S518F	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	518					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATCCAAGAATCAATCAG	0.423								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NaN																	0				ovary(1)|lung(1)	2						c.(1552-1554)TCT>TTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							146.0	133.0	138.0					12																	21624476		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624476G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1553C>T	12.37:g.21624476G>A	ENSP00000416739:p.Ser518Phe					RECQL_uc001rey.2_Missense_Mutation_p.S518F	p.S518F	NM_032941	NP_116559	P46063	RECQ1_HUMAN			14	1901	-			518					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.1553C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789788	0.70337	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	RQC domain (1);	0.286735	0.37669	N	0.001993	T	0.44623	0.1302	L	0.47716	1.5	0.40972	D	0.984701	B	0.19583	0.037	B	0.29598	0.104	T	0.36138	-0.9760	10	0.56958	D	0.05	0.1517	19.6361	0.95733	0.0:0.0:1.0:0.0	.	518	P46063	RECQ1_HUMAN	F	518	ENSP00000416739:S518F;ENSP00000395449:S518F	ENSP00000395449:S518F	S	-	2	0	RECQL	21515743	0.996000	0.38824	0.587000	0.28692	0.998000	0.95712	8.529000	0.90602	2.878000	0.98634	0.650000	0.86243	TCT		0.423	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1		NM_002907		16	159	0	0	0	0.028581	0	16	159		
DENND5B	160518	broad.mit.edu	37	12	31604940	31604940	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:31604940G>A	ENST00000389082.5	-	5	1827	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Silent_p.V556V|DENND5B_ENST00000536562.1_Silent_p.V556V|DENND5B_ENST00000354285.4_Silent_p.V543V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	521	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGTCTGAATGACAAATGCTT	0.443																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1561-1563)GTC>GTT		DENN/MADD domain containing 5B							107.0	105.0	106.0					12																	31604940		1905	4131	6036	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31604940G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1563C>T	12.37:g.31604940G>A						DENND5B_uc001rkh.1_Silent_p.V556V|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.V543V|DENND5B_uc001rkk.1_Silent_p.V443V	p.V521V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			5	1749	-			521			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.1563C>T	CCDS44857.1																																																																																				0.443	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		11	103	0	0	0	0.010729	0	11	103		
SPATS2	65244	broad.mit.edu	37	12	49883353	49883353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:49883353G>A	ENST00000553127.1	+	6	724	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SPATS2_ENST00000552918.1_Missense_Mutation_p.E71K|SPATS2_ENST00000321898.6_Missense_Mutation_p.E71K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	71						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGCATTCATGGAAGGTAATCC	0.328																																						uc001rud.2		NaN																	0				breast(1)	1						c.(211-213)GAA>AAA		spermatogenesis associated, serine-rich 2							94.0	83.0	87.0					12																	49883353		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49883353G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.211G>A	12.37:g.49883353G>A	ENSP00000448228:p.Glu71Lys					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E71K|SPATS2_uc001ruf.2_Missense_Mutation_p.E71K|SPATS2_uc001rug.2_Missense_Mutation_p.E71K	p.E71K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			5	1200	+			71					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.211G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734919	0.89482	.	.	ENSG00000123352	ENST00000550997;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	L	0.53249	1.67	0.80722	D	1	P	0.35745	0.518	B	0.28385	0.089	T	0.59064	-0.7524	9	0.72032	D	0.01	-14.4742	16.5539	0.84479	0.0:0.0:1.0:0.0	.	71	Q86XZ4	SPAS2_HUMAN	K	71	.	ENSP00000326841:E71K	E	+	1	0	SPATS2	48169620	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GAA		0.328	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071		10	43	0	0	0	0.008291	0	10	43		
KRT79	338785	broad.mit.edu	37	12	53225239	53225239	+	Missense_Mutation	SNP	C	C	A	rs140032117	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:53225239C>A	ENST00000330553.5	-	2	683	c.649G>T	c.(649-651)Gac>Tac	p.D217Y		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	217	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTCTGAGTCCAGCCTCCCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19515	0.0		0.0	False		,,,				2504	0.0					uc001sbb.2		NaN																	0				ovary(2)|skin(2)	4						c.(649-651)GAC>TAC		keratin 6L		C	TYR/ASP	17,4389	24.3+/-50.5	0,17,2186	114.0	115.0	115.0		649	4.3	1.0	12	dbSNP_134	115	0,8600		0,0,4300	yes	missense	KRT79	NM_175834.2	160	0,17,6486	AA,AC,CC		0.0,0.3858,0.1307	probably-damaging	217/536	53225239	17,12989	2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53225239C>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.649G>T	12.37:g.53225239C>A	ENSP00000328358:p.Asp217Tyr					KRT79_uc001sba.2_5'Flank	p.D217Y	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			2	682	-			217			Rod.|Coil 1B.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.649G>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348226	0.61183	0.003858	0.0	ENSG00000185640	ENST00000330553	D	0.89552	-2.53	4.29	4.29	0.51040	Filament (1);	0.000000	0.51477	D	0.000088	D	0.94225	0.8146	M	0.84511	2.7	0.51233	D	0.999913	P	0.48294	0.908	P	0.60345	0.873	D	0.94997	0.8139	10	0.87932	D	0	.	17.003	0.86385	0.0:1.0:0.0:0.0	.	217	Q5XKE5	K2C79_HUMAN	Y	217	ENSP00000328358:D217Y	ENSP00000328358:D217Y	D	-	1	0	KRT79	51511506	1.000000	0.71417	0.998000	0.56505	0.543000	0.35085	3.878000	0.56130	2.677000	0.91161	0.561000	0.74099	GAC		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		31	115	1	0	2.09667e-21	0.017118	2.25294e-21	31	115		
NCKAP1L	3071	broad.mit.edu	37	12	54901657	54901657	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:54901657C>G	ENST00000293373.6	+	4	406	c.327C>G	c.(325-327)ctC>ctG	p.L109L	NCKAP1L_ENST00000545638.2_Silent_p.L59L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	109					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGAACTTCTCAACACCATTG	0.423																																						uc001sgc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(325-327)CTC>CTG		NCK-associated protein 1-like							246.0	233.0	237.0					12																	54901657		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54901657C>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.327C>G	12.37:g.54901657C>G						NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L59L	p.L109L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			4	406	+			109					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.327C>G	CCDS31813.1																																																																																				0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337		42	158	0	0	0	0.01441	0	42	158		
CDK2	1017	broad.mit.edu	37	12	56361840	56361840	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:56361840G>A	ENST00000266970.4	+	3	442	c.202G>A	c.(202-204)Gat>Aat	p.D68N	PMEL_ENST00000552882.1_5'Flank|PMEL_ENST00000548493.1_5'Flank|CDK2_ENST00000553376.1_Missense_Mutation_p.D68N|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.D68N|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548689.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|CDK2_ENST00000440311.2_Missense_Mutation_p.D42N|PMEL_ENST00000449260.2_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000550464.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	TAGGCTGCTGGATGTCATTCA	0.443																																						uc001sit.3		NaN																	0				stomach(1)|central_nervous_system(1)	2						c.(202-204)GAT>AAT		cyclin-dependent kinase 2 isoform 1							147.0	142.0	144.0					12																	56361840		2203	4300	6503	SO:0001583	missense	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56361840G>A	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.202G>A	12.37:g.56361840G>A	ENSP00000266970:p.Asp68Asn					CDK2_uc001siu.3_Missense_Mutation_p.D68N|CDK2_uc010spy.1_Missense_Mutation_p.D42N	p.D68N	NM_001798	NP_001789	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		3	439	+			68			Protein kinase.		A8K7C6|O75100	Missense_Mutation	SNP	ENST00000266970.4	37	c.202G>A	CCDS8898.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855758	0.71834	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.73	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.80764	0.994;0.993;0.982	T	0.63427	-0.6640	10	0.46703	T	0.11	-10.0506	17.0098	0.86403	0.0:0.0:1.0:0.0	.	42;68;68	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	N	68;68;42;68	ENSP00000266970:D68N;ENSP00000452514:D68N;ENSP00000393605:D42N;ENSP00000243067:D68N	ENSP00000266970:D68N	D	+	1	0	CDK2	54648107	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.577000	0.98196	2.630000	0.89119	0.491000	0.48974	GAT		0.443	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1				16	104	0	0	0	0.024245	0	16	104		
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTAGCTTTTATCTCTTCTTT	0.269																																						uc001tlp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1105-1107)TTA>TTT		DNA-directed RNA polymerase III B isoform 1							13.0	14.0	14.0					12																	106820980		2198	4295	6493	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820980A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1107A>T	12.37:g.106820980A>T	ENSP00000228347:p.Leu369Phe					POLR3B_uc001tlq.2_Missense_Mutation_p.L311F	p.L369F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1329	+			369					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1107A>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939401	0.73557	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81499	-0.9;-0.9;-1.5	5.62	1.54	0.23209	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.91354	3.2	0.80722	D	1	P	0.36944	0.574	P	0.52424	0.698	D	0.84399	0.0559	10	0.87932	D	0	-10.3515	3.7246	0.08470	0.4201:0.0:0.3069:0.2729	.	369	Q9NW08	RPC2_HUMAN	F	369;369;311;127;32	ENSP00000228347:L369F;ENSP00000445721:L311F;ENSP00000448398:L127F	ENSP00000228347:L369F	L	+	3	2	POLR3B	105345110	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.461000	0.21940	0.472000	0.27344	0.455000	0.32223	TTA		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		6	12	0	0	0	0.00308	0	6	12		
TCTN1	79600	broad.mit.edu	37	12	111072480	111072480	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111072480C>T	ENST00000551590.1	+	6	874	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Silent_p.L62L|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Silent_p.L240L|AC144522.1_ENST00000408319.1_RNA			Q2MV58	TECT1_HUMAN	tectonic family member 1	240					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTAGCGTTTCTGGTGAACCA	0.343																																						uc009zvs.2		NaN																	0					0						c.(718-720)CTG>TTG		tectonic family member 1 isoform 2							37.0	35.0	35.0					12																	111072480		1802	4064	5866	SO:0001819	synonymous_variant	79600				multicellular organismal development	extracellular region		g.chr12:111072480C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.718C>T	12.37:g.111072480C>T						TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.L180L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Intron|TCTN1_uc001trn.3_Silent_p.L240L|TCTN1_uc001trj.1_Silent_p.L184L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.L240L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			6	826	+			240					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	c.718C>T	CCDS41835.1																																																																																				0.343	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2		NM_024549		4	20	0	0	0	0.009096	0	4	20		
CUX2	23316	broad.mit.edu	37	12	111785494	111785494	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111785494G>C	ENST00000261726.6	+	22	3980	c.3826G>C	c.(3826-3828)Gag>Cag	p.E1276Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1276					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGGAACTGGAGCTTCAGGA	0.617																																						uc001tsa.1		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(3826-3828)GAG>CAG		cut-like 2							57.0	66.0	63.0					12																	111785494		2057	4194	6251	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785494G>C	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3826G>C	12.37:g.111785494G>C	ENSP00000261726:p.Glu1276Gln						p.E1276Q	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	3979	+			1276					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3826G>C	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	6.136	0.393382	0.11638	.	.	ENSG00000111249	ENST00000261726	T	0.47528	0.84	5.78	4.88	0.63580	.	0.286719	0.38605	N	0.001631	T	0.34542	0.0901	L	0.29908	0.895	0.19575	N	0.999964	B	0.24258	0.1	B	0.20577	0.03	T	0.15407	-1.0438	10	0.22706	T	0.39	-18.2327	12.5457	0.56197	0.0834:0.0:0.9166:0.0	.	1276	O14529	CUX2_HUMAN	Q	1276	ENSP00000261726:E1276Q	ENSP00000261726:E1276Q	E	+	1	0	CUX2	110269877	0.836000	0.29430	0.023000	0.16930	0.060000	0.15804	1.463000	0.35277	1.404000	0.46819	0.650000	0.86243	GAG		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267		10	66	0	0	0	0.006214	0	10	66		
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr13:110434606T>G	ENST00000375856.3	-	1	4309	c.3795A>C	c.(3793-3795)ccA>ccC	p.P1265P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.701																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3793-3795)CCA>CCC		insulin receptor substrate 2							7.0	9.0	8.0					13																	110434606		1938	3917	5855	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434606T>G	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3795A>C	13.37:g.110434606T>G							p.P1265P	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4309	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1265			Poly-Pro.		Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3795A>C	CCDS9510.1																																																																																				0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		8	12	0	0	0	0.020292	0	8	12		
SUPT16H	11198	broad.mit.edu	37	14	21852042	21852042	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:21852042C>T	ENST00000216297.2	-	1	383	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RP11-524O1.4_ENST00000565098.1_RNA|SUPT16H_ENST00000555943.1_Silent_p.K15K	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	15					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTACAGTCTCTTCACTCGCC	0.547																																						uc001wao.2		NaN																	0					0						c.(43-45)AAG>AAA		chromatin-specific transcription elongation							74.0	77.0	76.0					14																	21852042		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21852042C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.45G>A	14.37:g.21852042C>T						SUPT16H_uc001wap.2_Silent_p.K15K|SUPT16H_uc001waq.1_Silent_p.K15K	p.K15K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	1	384	-	all_cancers(95;0.00115)		15					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.45G>A	CCDS9569.1																																																																																				0.547	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				8	74	0	0	0	0.006214	0	8	74		
SMEK1	55671	broad.mit.edu	37	14	91937257	91937257	+	Missense_Mutation	SNP	C	C	G	rs148837810		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937257C>G	ENST00000554943.1	-	10	1699	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	SMEK1_ENST00000554684.1_Missense_Mutation_p.K515N|SMEK1_ENST00000555462.1_Missense_Mutation_p.K289N|SMEK1_ENST00000428424.2_Missense_Mutation_p.K289N|SMEK1_ENST00000337238.4_Missense_Mutation_p.K515N			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	528					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TAATGTAGTTCTTTATGTGGT	0.358																																						uc001xzn.2		NaN																	0					0						c.(1582-1584)AAG>AAC		SMEK homolog 1, suppressor of mek1							107.0	110.0	109.0					14																	91937257		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937257C>G	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1584G>C	14.37:g.91937257C>G	ENSP00000450883:p.Lys528Asn					SMEK1_uc001xzm.2_Missense_Mutation_p.K515N|SMEK1_uc001xzo.2_Missense_Mutation_p.K515N|SMEK1_uc010atz.2_Missense_Mutation_p.K289N|SMEK1_uc001xzp.1_RNA	p.K528N	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2406	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	528					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1584G>C		.	.	.	.	.	.	.	.	.	.	C	19.41	3.821990	0.71028	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35	5.6	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	D;D;D	0.78314	0.978;0.986;0.991	D	0.96965	0.9704	10	0.87932	D	0	-15.2248	12.2201	0.54429	0.0:0.8588:0.0:0.1412	.	289;528;515	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	N	515;515;289;528;289;515	ENSP00000450864:K515N;ENSP00000337125:K515N;ENSP00000392704:K289N;ENSP00000450883:K528N;ENSP00000450891:K289N;ENSP00000452596:K515N	ENSP00000337125:K515N	K	-	3	2	SMEK1	91007010	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.107000	0.57811	1.368000	0.46115	0.650000	0.86243	AAG		0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1		NM_032560		18	65	0	0	0	0.007413	0	18	65		
SMEK1	55671	broad.mit.edu	37	14	91937337	91937337	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937337C>T	ENST00000554943.1	-	10	1619	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	SMEK1_ENST00000554684.1_Missense_Mutation_p.D489N|SMEK1_ENST00000555462.1_Missense_Mutation_p.D263N|SMEK1_ENST00000428424.2_Missense_Mutation_p.D263N|SMEK1_ENST00000337238.4_Missense_Mutation_p.D489N			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	502					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTCTGAAAATCATCTAAAAGA	0.289																																						uc001xzn.2		NaN																	0					0						c.(1504-1506)GAT>AAT		SMEK homolog 1, suppressor of mek1							73.0	76.0	75.0					14																	91937337		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91937337C>T	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1504G>A	14.37:g.91937337C>T	ENSP00000450883:p.Asp502Asn					SMEK1_uc001xzm.2_Missense_Mutation_p.D489N|SMEK1_uc001xzo.2_Missense_Mutation_p.D489N|SMEK1_uc010atz.2_Missense_Mutation_p.D263N|SMEK1_uc001xzp.1_RNA	p.D502N	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	10	2326	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	502					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1504G>A		.	.	.	.	.	.	.	.	.	.	C	13.13	2.145680	0.37923	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	N	0.04787	-0.16	0.80722	D	1	D;B;B	0.67145	0.996;0.001;0.002	D;B;B	0.73708	0.981;0.003;0.007	T	0.47611	-0.9104	10	0.14252	T	0.57	-17.2273	20.0586	0.97663	0.0:1.0:0.0:0.0	.	263;502;489	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	N	489;489;263;502;263;489	ENSP00000450864:D489N;ENSP00000337125:D489N;ENSP00000392704:D263N;ENSP00000450883:D502N;ENSP00000450891:D263N;ENSP00000452596:D489N	ENSP00000337125:D489N	D	-	1	0	SMEK1	91007090	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.930000	0.63462	2.741000	0.93983	0.650000	0.86243	GAT		0.289	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1		NM_032560		11	47	0	0	0	0.020292	0	11	47		
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	G	rs371867600		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:93125804C>G	ENST00000216487.7	+	7	2484	c.2325C>G	c.(2323-2325)ctC>ctG	p.L775L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582																																						uc001yap.2		NaN																	0				lung(2)|ovary(1)	3						c.(2323-2325)CTC>CTG		Ras and Rab interactor 3							82.0	73.0	76.0					14																	93125804		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125804C>G	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2325C>G	14.37:g.93125804C>G						RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	p.L775L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			7	2477	+		all_cancers(154;0.0701)	775			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.2325C>G	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517315	0.13005	.	.	ENSG00000100599	ENST00000556418	.	.	.	5.84	-10.1	0.00402	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.49299	D	0.99977	.	.	.	.	.	.	T	0.40327	-0.9569	4	.	.	.	-12.7926	1.2003	0.01883	0.2125:0.2094:0.1633:0.4149	.	.	.	.	G	292	.	.	R	+	1	2	RIN3	92195557	0.016000	0.18221	0.265000	0.24526	0.926000	0.56050	-0.797000	0.04570	-1.655000	0.01497	-0.969000	0.02612	CGG		0.582	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1				9	76	0	0	0	0.008291	0	9	76		
IQCH	64799	broad.mit.edu	37	15	67793052	67793052	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:67793052G>A	ENST00000335894.4	+	21	3118	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	IQCH_ENST00000358767.3_3'UTR|IQCH_ENST00000360277.4_3'UTR|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.D675N	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	1018										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAGTCCAAAGATGATAAAAA	0.328																																						uc002aqo.1		NaN																	0				skin(3)|ovary(1)	4						c.(3052-3054)GAT>AAT		IQ motif containing H isoform 1							72.0	70.0	71.0					15																	67793052		2201	4298	6499	SO:0001583	missense	64799							g.chr15:67793052G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.3052G>A	15.37:g.67793052G>A	ENSP00000336861:p.Asp1018Asn					IQCH_uc002aqq.1_Missense_Mutation_p.D675N|IQCH_uc002aqp.1_3'UTR|uc002aqr.1_Intron	p.D1018N	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	21	3099	+			1018					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.3052G>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848548	0.51164	.	.	ENSG00000103599	ENST00000546225;ENST00000335894	T;T	0.14640	2.49;2.49	5.33	4.41	0.53225	.	0.615697	0.15596	N	0.254157	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	P;P	0.51351	0.944;0.557	B;B	0.44163	0.443;0.215	T	0.08186	-1.0734	10	0.44086	T	0.13	-13.0748	13.3922	0.60830	0.0:0.1582:0.8418:0.0	.	675;1018	Q86VS3-2;Q86VS3	.;IQCH_HUMAN	N	675;1018	ENSP00000444118:D675N;ENSP00000336861:D1018N	ENSP00000336861:D1018N	D	+	1	0	IQCH	65580106	0.978000	0.34361	0.196000	0.23383	0.005000	0.04900	2.687000	0.46976	1.363000	0.46019	0.655000	0.94253	GAT		0.328	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1		NM_022784		7	57	0	0	0	0.00308	0	7	57		
SKOR1	390598	broad.mit.edu	37	15	68118511	68118511	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:68118511G>A	ENST00000380035.2	+	2	403	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SKOR1_ENST00000554240.1_Silent_p.E76E|SKOR1_ENST00000341418.5_Silent_p.E301E|SKOR1_ENST00000389002.1_Silent_p.E106E|SKOR1_ENST00000554054.1_Silent_p.E87E			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	115					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCTATAATGAGATCCACAACC	0.632																																						uc002aqy.1		NaN																	0					0						c.(316-318)GAG>GAA		transcriptional corepressor Corl1							84.0	79.0	81.0					15																	68118511		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118511G>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.345G>A	15.37:g.68118511G>A							p.E106E	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			2	318	+			115					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.318G>A																																																																																					0.632	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1		NM_001031807		10	80	0	0	0	0.010729	0	10	80		
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:69238236C>G	ENST00000310673.3	+	2	517	c.363C>G	c.(361-363)ttC>ttG	p.F121L	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	121					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GTACCCCATTCTGGTCGATCA	0.428																																						uc002arn.1		NaN																	0					0						c.(361-363)TTC>TTG		sperm equatorial segment protein 1 precursor							56.0	57.0	57.0					15																	69238236		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238236C>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.363C>G	15.37:g.69238236C>G	ENSP00000312284:p.Phe121Leu					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.F121L	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	491	+			121					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.363C>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971216	0.53614	.	.	ENSG00000258484	ENST00000310673	T	0.39056	1.1	5.21	4.3	0.51218	.	0.000000	0.50627	D	0.000119	T	0.51584	0.1683	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53549	-0.8423	10	0.87932	D	0	-13.1245	9.9269	0.41498	0.0:0.906:0.0:0.094	.	121	Q6UW49	SPESP_HUMAN	L	121	ENSP00000312284:F121L	ENSP00000312284:F121L	F	+	3	2	SPESP1	67025290	1.000000	0.71417	0.999000	0.59377	0.198000	0.23893	1.784000	0.38674	1.331000	0.45412	0.655000	0.94253	TTC		0.428	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1		NM_145658		11	70	0	0	0	0.013537	0	11	70		
PARP6	56965	broad.mit.edu	37	15	72552921	72552921	+	Silent	SNP	C	C	T	rs28625945		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:72552921C>T	ENST00000569795.1	-	10	1341	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PARP6_ENST00000287196.9_Silent_p.K218K|PARP6_ENST00000260376.7_Silent_p.K218K|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	218							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTTTGGGGTTCTTCATGGTAC	0.582																																						uc002auc.2		NaN																	0					0						c.(652-654)AAG>AAA		poly (ADP-ribose) polymerase family, member 6							329.0	326.0	327.0					15																	72552921		1920	4121	6041	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72552921C>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.654G>A	15.37:g.72552921C>T						PARP6_uc002aua.2_Silent_p.K83K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.K218K	p.K218K	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			9	1113	-			218					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.654G>A	CCDS10241.2																																																																																				0.582	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2		NM_020214		69	442	0	0	0	0.01441	0	69	442		
ISLR2	57611	broad.mit.edu	37	15	74425216	74425216	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:74425216G>C	ENST00000361742.3	+	4	890	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ISLR2_ENST00000435464.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000565540.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000419208.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000453268.2_Missense_Mutation_p.E41Q|ISLR2_ENST00000445793.1_Missense_Mutation_p.E41Q	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	41	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCTTACAAAGAGTTGCGTGA	0.637																																						uc002axd.2		NaN																	0					0						c.(121-123)GAG>CAG		immunoglobulin superfamily containing							83.0	71.0	75.0					15																	74425216		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425216G>C		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.121G>C	15.37:g.74425216G>C	ENSP00000355402:p.Glu41Gln					ISLR2_uc002axe.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjg.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjf.2_Missense_Mutation_p.E41Q	p.E41Q	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	890	+			41			Extracellular (Potential).|LRRNT.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.121G>C	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504934	0.44558	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.9	4.9	0.64082	Leucine-rich repeat-containing N-terminal (1);	0.194412	0.41294	D	0.000911	T	0.35422	0.0931	N	0.19112	0.55	0.43007	D	0.994538	P	0.51351	0.944	P	0.48704	0.587	T	0.18461	-1.0336	10	0.51188	T	0.08	.	11.58	0.50885	0.0824:0.0:0.9176:0.0	.	41	Q6UXK2	ISLR2_HUMAN	Q	41	ENSP00000403244:E41Q;ENSP00000355402:E41Q;ENSP00000411443:E41Q;ENSP00000411834:E41Q;ENSP00000408872:E41Q	ENSP00000355402:E41Q	E	+	1	0	ISLR2	72212269	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	5.529000	0.67135	2.268000	0.75426	0.407000	0.27541	GAG		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1		NM_020851		10	89	0	0	0	0.010729	0	10	89		
SRCAP	10847	broad.mit.edu	37	16	30731577	30731577	+	Missense_Mutation	SNP	G	G	T	rs200896833		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:30731577G>T	ENST00000262518.4	+	19	3297	c.2912G>T	c.(2911-2913)cGc>cTc	p.R971L	SRCAP_ENST00000344771.4_Missense_Mutation_p.R971L|SRCAP_ENST00000395059.2_Missense_Mutation_p.R971L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	971					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGCCTCTCTCGCCGGGTACTG	0.567																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(2911-2913)CGC>CTC		Snf2-related CBP activator protein							129.0	137.0	134.0					16																	30731577		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30731577G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2912G>T	16.37:g.30731577G>T	ENSP00000262518:p.Arg971Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R828L|SRCAP_uc010bzz.1_Missense_Mutation_p.R541L	p.R971L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		19	3297	+			971					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2912G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383674	0.61845	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94000	-3.33;-3.17;-3.21	5.45	4.47	0.54385	.	0.128066	0.36268	N	0.002696	D	0.94152	0.8124	M	0.67700	2.07	0.33840	D	0.631334	D;D;P	0.61080	0.989;0.971;0.95	P;P;B	0.55112	0.769;0.556;0.354	D	0.96084	0.9056	10	0.87932	D	0	-3.1376	9.8791	0.41222	0.0783:0.1396:0.7821:0.0	.	971;971;971	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	971	ENSP00000262518:R971L;ENSP00000378499:R971L;ENSP00000343042:R971L	ENSP00000262518:R971L	R	+	2	0	SRCAP	30639078	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.776000	0.55356	1.263000	0.44181	0.585000	0.79938	CGC		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		43	212	1	0	5.44703e-19	0.036044	5.81689e-19	43	212		
TANGO6	79613	broad.mit.edu	37	16	68901008	68901008	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:68901008G>A	ENST00000261778.1	+	4	891	c.879G>A	c.(877-879)atG>atA	p.M293I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	293						integral component of membrane (GO:0016021)											AGACACAGATGAGGTGTCGGG	0.502																																						uc002ewi.3		NaN																	0					0						c.(877-879)ATG>ATA		transmembrane and coiled-coil domains 7							103.0	102.0	102.0					16																	68901008		1920	4126	6046	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68901008G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.879G>A	16.37:g.68901008G>A	ENSP00000261778:p.Met293Ile					TMCO7_uc002ewh.2_Missense_Mutation_p.M293I	p.M293I	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	4	891	+		Ovarian(137;0.0568)	293					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.879G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214282	0.22289	.	.	ENSG00000103047	ENST00000261778	T	0.69175	-0.38	5.83	-6.39	0.01951	.	.	.	.	.	T	0.36026	0.0952	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22521	-1.0214	9	0.17369	T	0.5	.	6.3689	0.21471	0.2027:0.5285:0.1046:0.1642	.	293;132	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	I	293	ENSP00000261778:M293I	ENSP00000261778:M293I	M	+	3	0	TMCO7	67458509	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.494000	0.06451	-1.449000	0.01938	-1.216000	0.01612	ATG		0.502	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2		XM_928235.2		11	109	0	0	0	0.008291	0	11	109		
SDR42E1	93517	broad.mit.edu	37	16	82033729	82033729	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:82033729C>G	ENST00000328945.5	-	3	296	c.169G>C	c.(169-171)Gac>Cac	p.D57H	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	57					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGGCGGATGTCTCCTTGTATA	0.498																																						uc002fgu.2		NaN																	0					0						c.(169-171)GAC>CAC		short chain dehydrogenase/reductase family 42E,							150.0	144.0	146.0					16																	82033729		1941	4152	6093	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033729C>G	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.169G>C	16.37:g.82033729C>G	ENSP00000332407:p.Asp57His						p.D57H	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	297	-			57					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.169G>C	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263452	0.39995	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.96232	-3.95;-3.95	6.03	4.09	0.47781	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.134886	0.64402	D	0.000003	D	0.98492	0.9497	H	0.97077	3.935	0.50313	D	0.999861	D	0.89917	1.0	D	0.79784	0.993	D	0.98530	1.0627	10	0.87932	D	0	-34.6874	8.8076	0.34948	0.0:0.7745:0.0:0.2255	.	57	Q8WUS8	D42E1_HUMAN	H	57;54	ENSP00000332407:D57H;ENSP00000434529:D54H	ENSP00000332407:D57H	D	-	1	0	SDR42E1	80591230	0.979000	0.34478	0.899000	0.35326	0.123000	0.20343	2.525000	0.45598	1.564000	0.49628	0.655000	0.94253	GAC		0.498	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2		NM_145168		13	156	0	0	0	0.020292	0	13	156		
SMYD4	114826	broad.mit.edu	37	17	1704306	1704306	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:1704306C>T	ENST00000305513.7	-	5	549	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	128							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGTTAATGTCTTTAAGACAC	0.418																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.(382-384)GAC>AAC		SET and MYND domain containing 4																																				SO:0001583	missense	114826						zinc ion binding	g.chr17:1704306C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.382G>A	17.37:g.1704306C>T	ENSP00000304360:p.Asp128Asn					SMYD4_uc002ftn.1_5'UTR	p.D128N	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	550	-			128					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.382G>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389838	0.61956	.	.	ENSG00000186532	ENST00000305513	T	0.63255	-0.03	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.040345	0.85682	D	0.000000	T	0.80633	0.4660	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78682	-0.2109	10	0.42905	T	0.14	-26.4481	19.4463	0.94849	0.0:1.0:0.0:0.0	.	128	Q8IYR2	SMYD4_HUMAN	N	128	ENSP00000304360:D128N	ENSP00000304360:D128N	D	-	1	0	SMYD4	1651056	1.000000	0.71417	0.997000	0.53966	0.158000	0.22134	5.564000	0.67359	2.835000	0.97688	0.650000	0.86243	GAC		0.418	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082		14	137	0	0	0	0.020292	0	14	137		
P2RX1	5023	broad.mit.edu	37	17	3801112	3801112	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3801112G>C	ENST00000225538.3	-	12	1470	c.1196C>G	c.(1195-1197)tCc>tGc	p.S399C		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	399					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGAGCATCAGGATGTCCTCAT	0.642																																						uc002fww.2		NaN																	0				ovary(1)|skin(1)	2						c.(1195-1197)TCC>TGC		purinergic receptor P2X1							80.0	70.0	73.0					17																	3801112		2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3801112G>C	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1196C>G	17.37:g.3801112G>C	ENSP00000225538:p.Ser399Cys						p.S399C	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	12	1637	-			399			Cytoplasmic (Potential).		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.1196C>G	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481472	0.44147	.	.	ENSG00000108405	ENST00000225538	T	0.04970	3.52	4.74	4.74	0.60224	.	0.302509	0.29028	N	0.013378	T	0.15219	0.0367	L	0.36672	1.1	0.33486	D	0.588072	D	0.76494	0.999	D	0.65573	0.936	T	0.02758	-1.1114	10	0.87932	D	0	-24.6885	13.9512	0.64118	0.0:0.0:1.0:0.0	.	399	P51575	P2RX1_HUMAN	C	399	ENSP00000225538:S399C	ENSP00000225538:S399C	S	-	2	0	P2RX1	3747861	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	2.826000	0.48104	2.567000	0.86603	0.484000	0.47621	TCC		0.642	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1		NM_002558		8	17	0	0	0	0.006214	0	8	17		
ZZEF1	23140	broad.mit.edu	37	17	3954291	3954291	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3954291G>A	ENST00000381638.2	-	36	5771	c.5647C>T	c.(5647-5649)Cgg>Tgg	p.R1883W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1883							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCACTGATCCGAATGGTTACC	0.532																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(5647-5649)CGG>TGG		zinc finger, ZZ type with EF hand domain 1							96.0	87.0	90.0					17																	3954291		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3954291G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5647C>T	17.37:g.3954291G>A	ENSP00000371051:p.Arg1883Trp					ZZEF1_uc002fxh.2_Missense_Mutation_p.R197W|ZZEF1_uc002fxi.2_Missense_Mutation_p.R118W|ZZEF1_uc002fxj.1_Missense_Mutation_p.R496W	p.R1883W	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			36	5711	-			1883					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5647C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622127	0.87460	.	.	ENSG00000074755	ENST00000381638	T	0.28255	1.62	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.38779	-0.9645	10	0.87932	D	0	-20.8265	14.4378	0.67293	0.0:0.0:0.8527:0.1473	.	1883;1883	O43149-2;O43149	.;ZZEF1_HUMAN	W	1883	ENSP00000371051:R1883W	ENSP00000371051:R1883W	R	-	1	2	ZZEF1	3901040	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.016000	0.70798	2.617000	0.88574	0.655000	0.94253	CGG		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		23	49	0	0	0	0.016522	0	23	49		
ZZEF1	23140	broad.mit.edu	37	17	3977490	3977490	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3977490C>T	ENST00000381638.2	-	24	3763	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1213							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGTCCCATCAGCCGGGAGA	0.572																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3637-3639)CTG>CTA		zinc finger, ZZ type with EF hand domain 1							133.0	128.0	130.0					17																	3977490		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3977490C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3639G>A	17.37:g.3977490C>T							p.L1213L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			24	3703	-			1213					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.3639G>A	CCDS11043.1																																																																																				0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		13	197	0	0	0	0.016723	0	13	197		
NEURL4	84461	broad.mit.edu	37	17	7225069	7225069	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7225069G>A	ENST00000399464.2	-	18	2924	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S946F|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.S968F	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	970	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCGCAGGGAACCTGCCCA	0.642																																						uc002gga.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2908-2910)TCC>TTC		neuralized homolog 4 isoform 1							47.0	53.0	51.0					17																	7225069		2011	4158	6169	SO:0001583	missense	84461						protein binding	g.chr17:7225069G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2909C>T	17.37:g.7225069G>A	ENSP00000382390:p.Ser970Phe					NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.S968F|NEURL4_uc002ggc.1_Missense_Mutation_p.S316F	p.S970F	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			18	2916	-			970			NHR 5.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2909C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462661	0.84425	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35605	1.31;1.3	5.52	5.52	0.82312	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.64170	1.965	0.50632	D	0.999885	D;D	0.71674	0.997;0.998	D;D	0.68621	0.931;0.959	T	0.59284	-0.7483	10	0.72032	D	0.01	-22.0193	18.5791	0.91165	0.0:0.0:1.0:0.0	.	968;970	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	F	968;970	ENSP00000319826:S968F;ENSP00000382390:S970F	ENSP00000319826:S968F	S	-	2	0	NEURL4	7165793	1.000000	0.71417	0.997000	0.53966	0.804000	0.45430	4.875000	0.63072	2.757000	0.94681	0.655000	0.94253	TCC		0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442		9	48	0	0	0	0.004482	0	9	48		
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(577-579)CAT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							95.0	85.0	88.0					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H193Y|TP53_uc002gih.2_Missense_Mutation_p.H193Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61Y|TP53_uc010cng.1_Missense_Mutation_p.H61Y|TP53_uc002gii.1_Missense_Mutation_p.H61Y|TP53_uc010cnh.1_Missense_Mutation_p.H193Y|TP53_uc010cni.1_Missense_Mutation_p.H193Y|TP53_uc002gij.2_Missense_Mutation_p.H193Y|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100Y|TP53_uc002gio.2_Missense_Mutation_p.H61Y|TP53_uc010vug.1_Missense_Mutation_p.H154Y	p.H193Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	771	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		18	41	0	0	0	0.0333	0	18	41		
MIEF2	125170	broad.mit.edu	37	17	18167607	18167607	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167607G>A	ENST00000323019.4	+	4	1105	c.894G>A	c.(892-894)gaG>gaA	p.E298E	MIEF2_ENST00000395706.2_Silent_p.E309E|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	298					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											AACGCCTGGAGCTCACTGTGG	0.682																																						uc002gst.2		NaN																	0					0						c.(892-894)GAG>GAA		Smith-Magenis syndrome chromosome region,							62.0	65.0	64.0					17																	18167607		2203	4300	6503	SO:0001819	synonymous_variant	125170					integral to membrane	protein binding	g.chr17:18167607G>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.894G>A	17.37:g.18167607G>A						SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.E309E	p.E298E	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	1105	+	all_neural(463;0.228)		298					J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	c.894G>A	CCDS11193.1																																																																																				0.682	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2		NM_139162		7	92	0	0	0	0.02938	0	7	92		
MIEF2	125170	broad.mit.edu	37	17	18167950	18167950	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167950G>C	ENST00000323019.4	+	4	1448	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	MIEF2_ENST00000395706.2_Missense_Mutation_p.E424Q|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	413					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CGGCAGCCTGGAGCAGGCCAG	0.622																																						uc002gst.2		NaN																	0					0						c.(1237-1239)GAG>CAG		Smith-Magenis syndrome chromosome region,							34.0	34.0	34.0					17																	18167950		2201	4294	6495	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167950G>C	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1237G>C	17.37:g.18167950G>C	ENSP00000323591:p.Glu413Gln					SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.E424Q	p.E413Q	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	1448	+	all_neural(463;0.228)		413					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1237G>C	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025052	0.93518	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.08282	3.11;3.11	5.45	5.45	0.79879	.	0.096125	0.64402	D	0.000001	T	0.27454	0.0674	M	0.68593	2.085	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	T	0.01528	-1.1332	10	0.20046	T	0.44	-34.8844	19.2798	0.94048	0.0:0.0:1.0:0.0	.	413	Q96C03	MID49_HUMAN	Q	413;424	ENSP00000323591:E413Q;ENSP00000379057:E424Q	ENSP00000323591:E413Q	E	+	1	0	SMCR7	18108675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.698000	0.98700	2.565000	0.86533	0.462000	0.41574	GAG		0.622	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2		NM_139162		6	55	0	0	0	0.021553	0	6	55		
TNFAIP1	7126	broad.mit.edu	37	17	26669328	26669328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:26669328C>T	ENST00000226225.2	+	6	841	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R88C	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	192					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTCTCCCTGCGCTTCAACGG	0.547																																						uc002hax.1		NaN																	0					0						c.(574-576)CGC>TGC		tumor necrosis factor, alpha-induced protein 1							128.0	102.0	111.0					17																	26669328		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26669328C>T		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.574C>T	17.37:g.26669328C>T	ENSP00000226225:p.Arg192Cys					TNFAIP1_uc002hay.2_Missense_Mutation_p.R192C|TNFAIP1_uc010waf.1_Missense_Mutation_p.R88C	p.R192C	NM_021137	NP_066960	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	593	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		192					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.574C>T	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096665	0.76870	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.56941	0.43	5.92	3.94	0.45596	.	0.043815	0.85682	D	0.000000	T	0.69142	0.3078	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.71437	-0.4593	10	0.59425	D	0.04	-21.6036	11.8594	0.52457	0.0:0.8613:0.0:0.1387	.	192	Q13829	BACD2_HUMAN	C	192;88	ENSP00000226225:R192C	ENSP00000226225:R192C	R	+	1	0	TNFAIP1	23693455	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	2.384000	0.44362	0.848000	0.35191	0.655000	0.94253	CGC		0.547	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2		NM_021137		9	41	0	0	0	0.004482	0	9	41		
RNF135	84282	broad.mit.edu	37	17	29325811	29325811	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:29325811C>G	ENST00000328381.5	+	5	1774	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TTCTACCAGCCAGGTCTTATG	0.557																																						uc002hfz.2		NaN																	1	Unknown(1)	p.?(1)	central_nervous_system(1)	skin(2)	2						c.(901-903)CAG>GAG		ring finger protein 135 isoform 1							69.0	63.0	65.0					17																	29325811		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325811C>G	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.901C>G	17.37:g.29325811C>G	ENSP00000328340:p.Gln301Glu					RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	p.Q301E	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN			5	1037	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	301			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.901C>G	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939889	0.73557	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.62498	0.02	5.1	5.1	0.69264	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.000000	0.42682	D	0.000666	T	0.79581	0.4470	M	0.89095	3.005	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.78008	-0.2372	10	0.07644	T	0.81	-16.5674	16.3832	0.83489	0.0:1.0:0.0:0.0	.	301	Q8IUD6	RN135_HUMAN	E	301;120	ENSP00000328340:Q301E	ENSP00000328340:Q301E	Q	+	1	0	RNF135	26349937	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.899000	0.63245	2.554000	0.86153	0.655000	0.94253	CAG		0.557	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3		NM_032322		7	72	0	0	0	0.02938	0	7	72		
ERBB2	2064	broad.mit.edu	37	17	37881392	37881392	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:37881392A>G	ENST00000269571.5	+	21	2743	c.2584A>G	c.(2584-2586)Aca>Gca	p.T862A	ERBB2_ENST00000445658.2_Missense_Mutation_p.T586A|ERBB2_ENST00000540147.1_Missense_Mutation_p.T832A|ERBB2_ENST00000584601.1_Missense_Mutation_p.T832A|ERBB2_ENST00000406381.2_Missense_Mutation_p.T832A|ERBB2_ENST00000541774.1_Missense_Mutation_p.T847A|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.T862A			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	862	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.T862A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTCAAAATTACAGACTTCGG	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)	p.T862A(1)	stomach(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2584-2586)ACA>GCA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						78.0	76.0	77.0					17																	37881392		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881392A>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2584A>G	17.37:g.37881392A>G	ENSP00000269571:p.Thr862Ala	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.T832A|ERBB2_uc010cwa.2_Missense_Mutation_p.T847A|ERBB2_uc002hsp.2_Missense_Mutation_p.T665A|ERBB2_uc010cwb.2_Missense_Mutation_p.T862A|ERBB2_uc010wek.1_Missense_Mutation_p.T586A	p.T862A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	21	2822	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	862			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2584A>G	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.944695	0.53079	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72676	0.3490	N	0.01640	-0.785	0.80722	D	1	D;D;D	0.61697	0.973;0.96;0.99	P;P;D	0.64776	0.726;0.621;0.929	T	0.79117	-0.1935	9	0.34782	T	0.22	.	14.6945	0.69110	1.0:0.0:0.0:0.0	.	586;847;862	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	A	832;847;586;862;832	ENSP00000385185:T832A;ENSP00000446466:T847A;ENSP00000404047:T586A;ENSP00000269571:T862A;ENSP00000443562:T832A	ENSP00000269571:T862A	T	+	1	0	ERBB2	35134918	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.139000	0.94554	2.142000	0.66516	0.460000	0.39030	ACA		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				15	72	0	0	0	0.028581	0	15	72		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						uc010wfp.1		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(52-54)GAC>GTC		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	53	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041		9	43	0	0	0	0.006214	0	9	43		
PLEKHH3	79990	broad.mit.edu	37	17	40823447	40823447	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:40823447C>T	ENST00000591022.1	-	8	1593	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	PLEKHH3_ENST00000412503.1_Silent_p.Q402Q|PLEKHH3_ENST00000293349.6_Silent_p.Q402Q|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	402					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACAGCAGCTCCTGCCGTTGGC	0.677																																						uc002iau.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1204-1206)CAG>CAA		pleckstrin homology domain containing, family H							33.0	29.0	31.0					17																	40823447		2201	4297	6498	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40823447C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1206G>A	17.37:g.40823447C>T						PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.Q402Q	p.Q402Q	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	8	1673	-		Breast(137;0.00116)	402					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1206G>A	CCDS11434.1																																																																																				0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1		NM_024927		5	41	0	0	0	0.021553	0	5	41		
WFIKKN2	124857	broad.mit.edu	37	17	48917592	48917592	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:48917592G>A	ENST00000311378.4	+	2	1471	c.943G>A	c.(943-945)Gag>Aag	p.E315K	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222K|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657																																						uc002isv.3		NaN																	0				ovary(2)|skin(1)	3						c.(943-945)GAG>AAG		WFIKKN2 protein							49.0	44.0	46.0					17																	48917592		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917592G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.943G>A	17.37:g.48917592G>A	ENSP00000311184:p.Glu315Lys					WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222K	p.E315K	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1637	+			315					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.943G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.284519	0.23392	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81659	-1.52;-1.52	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.71600	0.3359	L	0.47716	1.5	0.32727	N	0.509487	B	0.20671	0.047	B	0.12156	0.007	T	0.69091	-0.5237	10	0.15066	T	0.55	.	10.8268	0.46638	0.1465:0.0:0.8535:0.0	.	315	Q8TEU8	WFKN2_HUMAN	K	222;315	ENSP00000405889:E222K;ENSP00000311184:E315K	ENSP00000311184:E315K	E	+	1	0	WFIKKN2	46272591	0.776000	0.28616	0.848000	0.33437	0.263000	0.26337	1.295000	0.33377	2.533000	0.85409	0.651000	0.88453	GAG		0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575		9	71	0	0	0	0.006214	0	9	71		
TEX2	55852	broad.mit.edu	37	17	62248557	62248557	+	Silent	SNP	G	G	C	rs112066687		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62248557G>C	ENST00000583097.1	-	7	2746	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L	TEX2_ENST00000584379.1_Silent_p.L858L|TEX2_ENST00000258991.3_Silent_p.L865L			Q8IWB9	TEX2_HUMAN	testis expressed 2	858					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAAGTAGGGGAGCTAGAGGA	0.493																																						uc002jec.2		NaN																	0				ovary(1)	1						c.(2572-2574)CTC>CTG		testis expressed sequence 2							99.0	84.0	89.0					17																	62248557		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62248557G>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2574C>G	17.37:g.62248557G>C						TEX2_uc002jed.2_Silent_p.L865L|TEX2_uc002jee.2_Silent_p.L858L	p.L858L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	7	2747	-			858					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2574C>G																																																																																					0.493	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469		5	38	0	0	0	0.014758	0	5	38		
DDX5	1655	broad.mit.edu	37	17	62502215	62502215	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62502215C>T	ENST00000225792.5	-	1	424	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DDX5_ENST00000578804.1_5'Flank|CEP95_ENST00000553412.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|CEP95_ENST00000581056.1_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.R8Q	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	8					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCGCGGTCTCGGTCACTCGA	0.652			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(22-24)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							27.0	27.0	27.0					17																	62502215		2202	4300	6502	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62502215C>T	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.23G>A	17.37:g.62502215C>T	ENSP00000225792:p.Arg8Gln					CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.R8Q|DDX5_uc002jel.1_5'Flank	p.R8Q	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		1	270	-	Breast(5;2.15e-14)		8					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.23G>A	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298377	0.81025	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T;T;T	0.31247	1.5;1.5;1.5	5.53	5.53	0.82687	.	0.720633	0.12493	N	0.464030	T	0.55242	0.1908	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53722	0.733;0.733	T	0.58668	-0.7596	10	0.52906	T	0.07	-1.4932	19.4535	0.94878	0.0:1.0:0.0:0.0	.	8;8	B4DLW8;P17844	.;DDX5_HUMAN	Q	8	ENSP00000440276:R8Q;ENSP00000403085:R8Q;ENSP00000225792:R8Q	ENSP00000225792:R8Q	R	-	2	0	DDX5	59932677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.247000	0.58750	2.607000	0.88179	0.561000	0.74099	CGA		0.652	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		4	9	0	0	0	0.014758	0	4	9		
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:76547693C>G	ENST00000585328.1	-	16	2439	c.2315G>C	c.(2314-2316)cGa>cCa	p.R772P	DNAH17_ENST00000389840.5_Missense_Mutation_p.R772P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	772	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.433																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1420-1422)CGA>CCA		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							151.0	133.0	139.0					17																	76547693		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76547693C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2315G>C	17.37:g.76547693C>G	ENSP00000465516:p.Arg772Pro						p.R474P					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	1527	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1421G>C		.	.	.	.	.	.	.	.	.	.	C	12.96	2.094594	0.36952	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25414	1.8	4.78	4.78	0.61160	.	3.623300	0.01443	N	0.015165	T	0.56819	0.2011	M	0.72353	2.195	0.36670	D	0.878458	D	0.69078	0.997	D	0.73380	0.98	T	0.22452	-1.0216	10	0.36615	T	0.2	.	15.9629	0.79945	0.0:1.0:0.0:0.0	.	474	Q9UFH2-4	.	P	772	ENSP00000374490:R772P	ENSP00000300671:R772P	R	-	2	0	DNAH17	74059288	1.000000	0.71417	0.976000	0.42696	0.081000	0.17604	4.856000	0.62932	2.351000	0.79841	0.462000	0.41574	CGA		0.433	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		7	95	0	0	0	0.00308	0	7	95		
TUBB6	84617	broad.mit.edu	37	18	12308761	12308761	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:12308761G>A	ENST00000317702.5	+	2	367	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TUBB6_ENST00000590967.1_Missense_Mutation_p.E45K|TUBB6_ENST00000586653.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591909.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591208.1_Missense_Mutation_p.E45K|TUBB6_ENST00000592683.1_Missense_Mutation_p.E45K			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	45					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCTGCAGCTGGAGAGAATCAA	0.662																																						uc002kqw.2		NaN																	0					0						c.(133-135)GAG>AAG		tubulin, beta 6							64.0	64.0	64.0					18																	12308761		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12308761G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.133G>A	18.37:g.12308761G>A	ENSP00000318697:p.Glu45Lys					TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E45K|TUBB6_uc002kqy.2_Missense_Mutation_p.E45K	p.E45K	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	2	178	+			45					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.133G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538775	0.65085	.	.	ENSG00000176014	ENST00000317702;ENST00000445717	T	0.70516	-0.49	4.16	3.28	0.37604	Tubulin/FtsZ, GTPase domain (3);	0.060943	0.64402	D	0.000005	T	0.79822	0.4512	M	0.92604	3.325	0.45515	D	0.998477	B;P	0.39157	0.031;0.662	B;B	0.43990	0.116;0.438	T	0.83239	-0.0059	10	0.87932	D	0	.	11.843	0.52366	0.0873:0.0:0.9127:0.0	.	45;45	B4DP54;Q9BUF5	.;TBB6_HUMAN	K	45	ENSP00000318697:E45K	ENSP00000318697:E45K	E	+	1	0	TUBB6	12298761	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	8.854000	0.92228	0.996000	0.38943	0.454000	0.30748	GAG		0.662	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2		NM_032525		16	76	0	0	0	0.0333	0	16	76		
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:71797676G>A	ENST00000419743.2	-	4	629	c.550C>T	c.(550-552)Cca>Tca	p.P184S	FBXO15_ENST00000269500.5_Missense_Mutation_p.P108S	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	184						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433																																						uc002lle.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(322-324)CCA>TCA		F-box protein 15 isoform 1							156.0	154.0	155.0					18																	71797676		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71797676G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.550C>T	18.37:g.71797676G>A	ENSP00000393154:p.Pro184Ser					FBXO15_uc002llf.2_Missense_Mutation_p.P184S	p.P108S	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	4	658	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	108					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.322C>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262307	0.80358	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.61980	0.13;0.06	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.72894	2.215	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80848	-0.1199	10	0.87932	D	0	-1.871	18.5484	0.91055	0.0:0.0:1.0:0.0	.	184;108	B3KST3;Q8NCQ5	.;FBX15_HUMAN	S	108;184	ENSP00000269500:P108S;ENSP00000393154:P184S	ENSP00000269500:P108S	P	-	1	0	FBXO15	69948656	1.000000	0.71417	0.932000	0.37286	0.705000	0.40729	6.652000	0.74377	2.692000	0.91855	0.655000	0.94253	CCA		0.433	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1		NM_152676		8	74	0	0	0	0.004482	0	8	74		
FSD1	79187	broad.mit.edu	37	19	4305978	4305978	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:4305978G>A	ENST00000221856.6	+	2	198	c.51G>A	c.(49-51)gtG>gtA	p.V17V	FSD1_ENST00000597590.1_Silent_p.V17V	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	17					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGCTGTGAAGAATGAAG	0.537																																						uc002lzy.2		NaN																	0				skin(1)	1						c.(49-51)GTG>GTA		fibronectin type III and SPRY domain containing							147.0	137.0	140.0					19																	4305978		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4305978G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.51G>A	19.37:g.4305978G>A						FSD1_uc010xie.1_Intron|FSD1_uc010xif.1_Intron|FSD1_uc002lzz.2_Silent_p.V17V	p.V17V	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	2	204	+			17			Potential.		B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	c.51G>A	CCDS12127.1																																																																																				0.537	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1		NM_024333		19	58	0	0	0	0.014323	0	19	58		
C19orf57	79173	broad.mit.edu	37	19	14000230	14000230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:14000230G>A	ENST00000586783.1	-	5	1438	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	C19orf57_ENST00000346736.2_Missense_Mutation_p.S480F|C19orf57_ENST00000454313.1_Missense_Mutation_p.S480F|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	480					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGCACAACAGAGGCTTGCGG	0.607																																						uc002mxl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1438-1440)TCT>TTT		hypothetical protein LOC79173							68.0	72.0	71.0					19																	14000230		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000230G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1439C>T	19.37:g.14000230G>A	ENSP00000465822:p.Ser480Phe					C19orf57_uc002mxk.1_Missense_Mutation_p.S362F|C19orf57_uc002mxm.1_Intron	p.S480F	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1498	-			480					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1439C>T		.	.	.	.	.	.	.	.	.	.	G	11.75	1.730445	0.30684	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.49720	0.77;0.77	4.36	2.12	0.27331	.	1.131280	0.06732	N	0.776905	T	0.27967	0.0689	N	0.14661	0.345	0.09310	N	1	B;B	0.31790	0.107;0.34	B;B	0.25506	0.061;0.061	T	0.19745	-1.0296	10	0.39692	T	0.17	-0.0344	5.672	0.17728	0.1154:0.1955:0.6891:0.0	.	480;480	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	F	480	ENSP00000404382:S480F;ENSP00000254336:S480F	ENSP00000254336:S480F	S	-	2	0	C19orf57	13861230	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.624000	0.24462	0.523000	0.28482	0.637000	0.83480	TCT		0.607	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1		NM_024323		11	116	0	0	0	0.010729	0	11	116		
UNC13A	23025	broad.mit.edu	37	19	17746845	17746845	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:17746845G>A	ENST00000519716.2	-	26	3202	c.3203C>T	c.(3202-3204)cCc>cTc	p.P1068L	UNC13A_ENST00000552293.1_Missense_Mutation_p.P1068L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1066L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1068L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1068L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P1156L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1068					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGAGGCAGGGAGTGTAGGA	0.448																																						uc002nhd.2		NaN																	0				ovary(3)	3						c.(3466-3468)CCC>CTC		unc-13 homolog A							72.0	70.0	71.0					19																	17746845		1976	4166	6142	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17746845G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3203C>T	19.37:g.17746845G>A	ENSP00000429562:p.Pro1068Leu						p.P1156L	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			26	3467	-			1068					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3467C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669621	0.47677	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82344	-1.59;-1.58;-1.6;-1.45;-1.47;-1.6	3.52	3.52	0.40303	Calcium-dependent secretion activator (1);	0.068321	0.64402	U	0.000013	D	0.85902	0.5805	M	0.81497	2.545	0.80722	D	1	B	0.32128	0.357	B	0.41764	0.366	D	0.87420	0.2381	10	0.62326	D	0.03	-17.0778	12.5996	0.56489	0.0:0.0:1.0:0.0	.	1068	Q9UPW8	UN13A_HUMAN	L	1068;1156;1068;1068;1068;1066	ENSP00000429562:P1068L;ENSP00000400409:P1156L;ENSP00000252773:P1068L;ENSP00000447236:P1068L;ENSP00000447572:P1068L;ENSP00000446831:P1066L	ENSP00000252773:P1068L	P	-	2	0	UNC13A	17607845	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.477000	0.81069	1.808000	0.52836	0.305000	0.20034	CCC		0.448	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2		XM_038604		6	20	0	0	0	0.021553	0	6	20		
ZNF257	113835	broad.mit.edu	37	19	22271790	22271790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:22271790C>G	ENST00000594947.1	+	4	1382	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACTGGTCCTCAGCTCTTACT	0.398																																						uc010ecx.2		NaN																	0					0						c.(1237-1239)TCA>TGA		zinc finger protein 257							52.0	59.0	56.0					19																	22271790		2096	4244	6340	SO:0001587	stop_gained	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271790C>G	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1238C>G	19.37:g.22271790C>G	ENSP00000470209:p.Ser413*					ZNF257_uc010ecy.2_Nonsense_Mutation_p.S381*	p.S413*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1407	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	413			C2H2-type 9; degenerate.		B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP	ENST00000594947.1	37	c.1238C>G	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691224	0.48097	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.851	0.851	0.18989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.1596	0.37014	0.0:1.0:0.0:0.0	.	.	.	.	X	413;385	.	ENSP00000380312:S385X	S	+	2	0	ZNF257	22063630	0.000000	0.05858	0.094000	0.20943	0.456000	0.32438	-0.092000	0.11129	0.726000	0.32339	0.313000	0.20887	TCA		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				10	33	0	0	0	0.006214	0	10	33		
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:44792882G>C	ENST00000291182.4	-	5	808	c.706C>G	c.(706-708)Cat>Gat	p.H236D	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358																																						uc002oza.3		NaN																	0				ovary(2)|large_intestine(1)	3						c.(706-708)CAT>GAT		zinc finger protein 93 homolog							111.0	113.0	113.0					19																	44792882		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792882G>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.706C>G	19.37:g.44792882G>C	ENSP00000291182:p.His236Asp					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H232D|ZNF235_uc010xwx.1_Missense_Mutation_p.H150D	p.H236D	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	809	-		Prostate(69;0.0352)|all_neural(266;0.116)	236					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.706C>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	g	8.959	0.970104	0.18659	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.05025	3.51	4.25	-2.7	0.06004	.	2.721460	0.01283	N	0.009791	T	0.06645	0.0170	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44081	-0.9351	10	0.87932	D	0	.	6.3435	0.21337	0.6652:0.1546:0.1802:0.0	.	232;236	Q14590-2;Q14590	.;ZN235_HUMAN	D	236;236;158	ENSP00000291182:H236D	ENSP00000291182:H236D	H	-	1	0	ZNF235	49484722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.071000	0.14594	-0.447000	0.07138	-0.372000	0.07161	CAT		0.358	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1				7	96	0	0	0	0.00308	0	7	96		
PIH1D1	55011	broad.mit.edu	37	19	49954759	49954759	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:49954759C>T	ENST00000262265.5	-	1	308	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000433981.2_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.E25K|ALDH16A1_ENST00000293350.4_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	25					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGCAGCTCCTCAAATCGCGCC	0.602																																						uc002pns.2		NaN																	0					0						c.(73-75)GAG>AAG		NOP17							105.0	95.0	99.0					19																	49954759		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954759C>T	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.73G>A	19.37:g.49954759C>T	ENSP00000262265:p.Glu25Lys					PIH1D1_uc010yap.1_Missense_Mutation_p.E25K|PIH1D1_uc010yaq.1_Missense_Mutation_p.E25K|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	p.E25K	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	1	357	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	25					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.73G>A	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.500506	0.26861	.	.	ENSG00000104872	ENST00000262265	T	0.11495	2.77	5.09	1.39	0.22231	.	0.199617	0.42821	D	0.000651	T	0.08758	0.0217	N	0.20685	0.6	0.21627	N	0.999619	P;P;B	0.51449	0.945;0.705;0.271	P;B;B	0.51615	0.675;0.359;0.187	T	0.26395	-1.0104	10	0.10902	T	0.67	-11.6237	7.9915	0.30244	0.0:0.4519:0.4563:0.0918	.	25;25;25	B4DGN7;B4E2X7;Q9NWS0	.;.;PIHD1_HUMAN	K	25	ENSP00000262265:E25K	ENSP00000262265:E25K	E	-	1	0	PIH1D1	54646571	0.086000	0.21541	0.757000	0.31301	0.094000	0.18550	0.032000	0.13732	0.293000	0.22520	0.556000	0.70494	GAG		0.602	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2		NM_017916		6	90	0	0	0	0.02938	0	6	90		
ZNF615	284370	broad.mit.edu	37	19	52497183	52497183	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:52497183G>C	ENST00000602063.1	-	6	1495	c.1146C>G	c.(1144-1146)acC>acG	p.T382T	ZNF615_ENST00000376716.5_Silent_p.T382T|ZNF615_ENST00000594083.1_Silent_p.T393T|ZNF615_ENST00000598071.1_Silent_p.T393T|ZNF615_ENST00000391795.3_Silent_p.T387T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTCTTCAAGGTGAAGCCTT	0.398																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(1144-1146)ACC>ACG		zinc finger protein 615							96.0	91.0	93.0					19																	52497183		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497183G>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1146C>G	19.37:g.52497183G>C						ZNF615_uc002pyf.1_Silent_p.T393T|ZNF615_uc002pyg.1_Silent_p.T274T|ZNF615_uc002pyh.1_Silent_p.T393T|ZNF615_uc010epi.1_Silent_p.T389T|ZNF615_uc010ydg.1_Silent_p.T387T	p.T382T	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1438	-		all_neural(266;0.117)	382			C2H2-type 7.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1146C>G	CCDS12846.1																																																																																				0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		10	93	0	0	0	0.006214	0	10	93		
CCDC173	129881	broad.mit.edu	37	2	170502423	170502423	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:170502423G>C	ENST00000447353.1	-	9	1692	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	529																	TATAAAAAGGGAGCTGGACTC	0.408																																						uc002ufe.2		NaN																	0					0						c.(1585-1587)CTC>CTG		hypothetical protein LOC129881							85.0	85.0	85.0					2																	170502423		1844	4090	5934	SO:0001819	synonymous_variant	129881							g.chr2:170502423G>C	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1587C>G	2.37:g.170502423G>C							p.L529L	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			9	1681	-			529					Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1587C>G	CCDS46445.1																																																																																				0.408	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2		NM_001085447		25	71	0	0	0	0.016522	0	25	71		
SPHKAP	80309	broad.mit.edu	37	2	228882660	228882660	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:228882660C>T	ENST00000392056.3	-	7	2956	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M970I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	970						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTTGGGTGTCATCAGAAACT	0.527																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(2908-2910)ATG>ATA		sphingosine kinase type 1-interacting protein							99.0	87.0	91.0					2																	228882660		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882660C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2910G>A	2.37:g.228882660C>T	ENSP00000375909:p.Met970Ile					SPHKAP_uc002vpp.2_Missense_Mutation_p.M970I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M970I	p.M970I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2957	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	970					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2910G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	6.429	0.447297	0.12223	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.81;2.81	6.08	0.171	0.15026	.	0.578097	0.18862	N	0.129111	T	0.05960	0.0155	N	0.15975	0.35	0.19575	N	0.999964	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.06405	0.001;0.0;0.002	T	0.40346	-0.9568	10	0.17369	T	0.5	.	12.7284	0.57185	0.1504:0.6882:0.1615:0.0	.	1;970;970	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	970	ENSP00000375909:M970I;ENSP00000339886:M970I	ENSP00000339886:M970I	M	-	3	0	SPHKAP	228590904	0.851000	0.29673	0.715000	0.30552	0.660000	0.38997	0.289000	0.18957	0.019000	0.15079	-0.262000	0.10625	ATG		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		13	98	0	0	0	0.016723	0	13	98		
HTR2B	3357	broad.mit.edu	37	2	231978477	231978477	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:231978477G>A	ENST00000258400.3	-	3	1031	c.519C>T	c.(517-519)ttC>ttT	p.F173F	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	173			F -> L (in dbSNP:rs77570025). {ECO:0000269|PubMed:21179162}.		activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TAATCTTGATGAATGCTGTAG	0.428																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2		NaN																	0					0						c.(517-519)TTC>TTT		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						252.0	235.0	241.0					2																	231978477		2203	4300	6503	SO:0001819	synonymous_variant	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231978477G>A		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.519C>T	2.37:g.231978477G>A						PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron	p.F173F	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	3	1024	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	173			Helical; Name=4; (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Silent	SNP	ENST00000258400.3	37	c.519C>T	CCDS2483.1																																																																																				0.428	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		NM_000867		12	229	0	0	0	0.016723	0	12	229		
EIF4E2	9470	broad.mit.edu	37	2	233421234	233421234	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:233421234G>C	ENST00000258416.3	+	2	802	c.129G>C	c.(127-129)aaG>aaC	p.K43N	EIF4E2_ENST00000409098.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409322.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409167.3_Missense_Mutation_p.K43N|EIF4E2_ENST00000409495.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409394.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409514.1_Missense_Mutation_p.K43N	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	43					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCAGTAGCAAGAGAAAGGTGA	0.408																																						uc002vta.2		NaN																	0					0						c.(127-129)AAG>AAC		eukaryotic translation initiation factor 4E							241.0	188.0	206.0					2																	233421234		2203	4300	6503	SO:0001583	missense	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233421234G>C	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.129G>C	2.37:g.233421234G>C	ENSP00000258416:p.Lys43Asn					EIF4E2_uc002vtb.1_Missense_Mutation_p.K43N|EIF4E2_uc002vsz.2_Missense_Mutation_p.K43N|EIF4E2_uc010zmi.1_Missense_Mutation_p.K43N	p.K43N	NM_004846	NP_004837	O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	2	207	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	43					B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.129G>C	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328075	0.24080	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.45668	1.18;1.18;1.18;1.18;0.89;0.91;0.9;1.18	5.56	3.68	0.42216	Translation Initiation factor eIF- 4e-like  domain (2);	0.052103	0.85682	D	0.000000	T	0.31575	0.0801	L	0.56769	1.78	0.35478	D	0.797885	B;B;B;P	0.40000	0.011;0.358;0.004;0.698	B;B;B;B	0.29440	0.006;0.05;0.01;0.102	T	0.38887	-0.9640	10	0.30078	T	0.28	-32.3137	9.5492	0.39299	0.1809:0.0:0.8191:0.0	.	43;43;43;43	B4E1E4;B8ZZJ9;O60573;B8ZZ50	.;.;IF4E2_HUMAN;.	N	43;43;43;43;43;43;43;38	ENSP00000258416:K43N;ENSP00000387336:K43N;ENSP00000386996:K43N;ENSP00000386876:K43N;ENSP00000387328:K43N;ENSP00000386424:K43N;ENSP00000386983:K43N;ENSP00000390904:K38N	ENSP00000258416:K43N	K	+	3	2	EIF4E2	233129478	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.984000	0.63838	0.655000	0.30866	-0.355000	0.07637	AAG		0.408	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2		NM_004846		4	23	0	0	0	0.009096	0	4	23		
GBX2	2637	broad.mit.edu	37	2	237074842	237074842	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:237074842G>T	ENST00000306318.4	-	2	1159	c.762C>A	c.(760-762)ttC>ttA	p.F254L	GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	254					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCTCGCTGGTGAAGGCAGTCC	0.672																																						uc002vvw.1		NaN																	0					0						c.(760-762)TTC>TTA		gastrulation brain homeo box 2							31.0	36.0	35.0					2																	237074842		2203	4298	6501	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074842G>T	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.762C>A	2.37:g.237074842G>T	ENSP00000302251:p.Phe254Leu					GBX2_uc010zng.1_3'UTR	p.F254L	NM_001485	NP_001476	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	800	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	254			Homeobox.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.762C>A	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349398	0.82132	.	.	ENSG00000168505	ENST00000306318	D	0.97041	-4.22	4.42	1.5	0.22942	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97749	1.0213	10	0.87932	D	0	-9.3022	9.8238	0.40899	0.2333:0.0:0.7667:0.0	.	254	P52951	GBX2_HUMAN	L	254	ENSP00000302251:F254L	ENSP00000302251:F254L	F	-	3	2	GBX2	236739581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.342000	0.33919	0.307000	0.22880	0.561000	0.74099	TTC		0.672	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3		NM_001485		8	61	1	0	0.000274275	0.004482	0.000280767	8	61		
NINL	22981	broad.mit.edu	37	20	25472060	25472060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:25472060G>A	ENST00000278886.6	-	11	1485	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	NINL_ENST00000422516.1_Missense_Mutation_p.A471V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	471					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCACTCCAGCGCGGCCCTCTG	0.692																																						uc002wux.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1411-1413)GCG>GTG		ninein-like							60.0	63.0	62.0					20																	25472060		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472060G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1412C>T	20.37:g.25472060G>A	ENSP00000278886:p.Ala471Val					NINL_uc010gdn.1_Missense_Mutation_p.A471V|NINL_uc010gdo.1_Missense_Mutation_p.A254V|NINL_uc010ztf.1_Missense_Mutation_p.A487V	p.A471V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			11	1486	-			471					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1412C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	5.051	0.195158	0.09599	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.31769	1.77;1.48	4.6	-9.21	0.00678	.	2.833760	0.01151	N	0.006400	T	0.07863	0.0197	N	0.01267	-0.92	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.08055	0.003;0.0	T	0.20940	-1.0260	10	0.25751	T	0.34	0.11	1.42	0.02310	0.4654:0.22:0.1516:0.163	.	471;471	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	V	471	ENSP00000278886:A471V;ENSP00000410431:A471V	ENSP00000278886:A471V	A	-	2	0	NINL	25420060	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.341000	0.07811	-1.793000	0.01258	-0.683000	0.03753	GCG		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176		10	76	0	0	0	0.010729	0	10	76		
ZNF334	55713	broad.mit.edu	37	20	45140739	45140739	+	Start_Codon_SNP	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:45140739C>T	ENST00000347606.4	-	2	185	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF334_ENST00000457685.2_5'UTR	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTTCATTTTCATGTTCTCTT	0.403																																						uc002xsc.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1-3)ATG>ATA		zinc finger protein 334 isoform a							92.0	88.0	90.0					20																	45140739		2203	4300	6503	SO:0001582	initiator_codon_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45140739C>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.3G>A	20.37:g.45140739C>T	ENSP00000255129:p.Met1Ile					ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR	p.M1I	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			2	187	-		Myeloproliferative disorder(115;0.0122)	1					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.3G>A	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224253	0.09863	.	.	ENSG00000198185	ENST00000347606	T	0.06933	3.24	3.06	-0.0292	0.13919	.	.	.	.	.	T	0.05686	0.0149	.	.	.	0.24784	N	0.992794	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	8	0.56958	D	0.05	.	3.4618	0.07536	0.0:0.5315:0.215:0.2535	.	1	Q9HCZ1	ZN334_HUMAN	I	1	ENSP00000255129:M1I	ENSP00000255129:M1I	M	-	3	0	ZNF334	44574146	0.074000	0.21230	0.181000	0.23098	0.749000	0.42624	-0.075000	0.11431	0.030000	0.15379	-0.237000	0.12165	ATG		0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			Missense_Mutation	8	71	0	0	0	0.004482	0	8	71		
LSS	4047	broad.mit.edu	37	21	47614422	47614422	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr21:47614422C>T	ENST00000397728.3	-	20	2049	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	LSS_ENST00000356396.4_Missense_Mutation_p.M657I|LSS_ENST00000457828.2_Missense_Mutation_p.M577I|AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000522411.1_Missense_Mutation_p.M646I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	657					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCATCAGCCCCATCATGGCCC	0.632																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NaN																	0					0						c.(1969-1971)ATG>ATA		lanosterol synthase isoform 1							91.0	73.0	79.0					21																	47614422		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47614422C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1971G>A	21.37:g.47614422C>T	ENSP00000380837:p.Met657Ile					LSS_uc011afv.1_Missense_Mutation_p.M646I|LSS_uc002zil.2_Missense_Mutation_p.M657I|LSS_uc002zik.2_Missense_Mutation_p.M577I	p.M657I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			20	2050	-	Breast(49;0.214)		657					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1971G>A	CCDS13733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.738611|2.738611	0.49045|0.49045	.|.	.|.	ENSG00000160285|ENSG00000160285	ENST00000419093|ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.07|5.07	4.17|4.17	0.49024|0.49024	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	.|0.281820	.|0.41712	.|D	.|0.000823	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.12831|0.12831	0.26|0.26	0.49687|0.49687	D|D	0.999815|0.999815	.|B;B	.|0.26975	.|0.137;0.165	.|B;B	.|0.27608	.|0.03;0.081	T|T	0.16129|0.16129	-1.0413|-1.0413	5|10	.|0.16420	.|T	.|0.52	.|.	12.9537|12.9537	0.58415|0.58415	0.0:0.9202:0.0:0.0798|0.0:0.9202:0.0:0.0798	.|.	.|646;657	.|E9PEI9;P48449	.|.;ERG7_HUMAN	R|I	25|657;577;657;646	.|ENSP00000348762:M657I;ENSP00000409191:M577I;ENSP00000380837:M657I;ENSP00000429133:M646I	.|ENSP00000348762:M657I	G|M	-|-	1|3	0|0	LSS|LSS	46438850|46438850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.607000|0.607000	0.37147|0.37147	1.358000|1.358000	0.34102|0.34102	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.632	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2				4	34	0	0	0	0.009096	0	4	34		
ZNF280A	129025	broad.mit.edu	37	22	22869055	22869055	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:22869055G>A	ENST00000302097.3	-	2	1152	c.900C>T	c.(898-900)tgC>tgT	p.C300C		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CGCAGCTGAGGCATTTAAAGG	0.413																																						uc002zwe.2		NaN																	0				ovary(1)	1						c.(898-900)TGC>TGT		zinc finger protein 280A							114.0	108.0	110.0					22																	22869055		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869055G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.900C>T	22.37:g.22869055G>A						LOC96610_uc011aim.1_Intron	p.C300C	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1153	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	300						Silent	SNP	ENST00000302097.3	37	c.900C>T	CCDS13800.1																																																																																				0.413	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3		NM_080740		35	179	0	0	0	0.013726	0	35	179		
NIPSNAP1	8508	broad.mit.edu	37	22	29966488	29966488	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:29966488G>A	ENST00000216121.7	-	2	386	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	44					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AGAGGGAGCGGAACCAGCTGC	0.552																																						uc003afx.3		NaN																	1	Unknown(1)	p.?(1)	lung(1)	skin(1)	1						c.(130-132)TTC>TTT		nipsnap homolog 1							53.0	51.0	51.0					22																	29966488		2203	4300	6503	SO:0001819	synonymous_variant	8508							g.chr22:29966488G>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.132C>T	22.37:g.29966488G>A						NIPSNAP1_uc011akp.1_Silent_p.F24F	p.F44F	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			2	205	-			44					B2RAY3|O43800	Silent	SNP	ENST00000216121.7	37	c.132C>T	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363402	0.24684	.	.	ENSG00000184117	ENST00000415100	.	.	.	4.48	2.38	0.29361	.	.	.	.	.	T	0.56262	0.1973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49485	-0.8935	4	.	.	.	.	8.2199	0.31534	0.243:0.0:0.757:0.0	.	.	.	.	S	61	.	.	P	-	1	0	NIPSNAP1	28296488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.023000	0.41040	0.634000	0.30469	0.456000	0.33151	CCG		0.552	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1				4	32	0	0	0	0.014758	0	4	32		
SLC5A1	6523	broad.mit.edu	37	22	32506039	32506039	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:32506039C>T	ENST00000266088.4	+	15	2084	c.1834C>T	c.(1834-1836)Cta>Tta	p.L612L	SLC5A1_ENST00000543737.1_Silent_p.L485L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	612					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATTTTGTGGGCTAGAGCAGCA	0.468																																						uc003amc.2		NaN																	0				skin(1)	1						c.(1834-1836)CTA>TTA		solute carrier family 5 (sodium/glucose							153.0	132.0	139.0					22																	32506039		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32506039C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1834C>T	22.37:g.32506039C>T						SLC5A1_uc011alz.1_Silent_p.L485L	p.L612L	NM_000343	NP_000334	P13866	SC5A1_HUMAN			15	2066	+			612			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1834C>T	CCDS13902.1																																																																																				0.468	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3		NM_000343		15	74	0	0	0	0.028581	0	15	74		
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		9	31	0	0	0	0.004482	0	9	31		
LDOC1L	84247	broad.mit.edu	37	22	44892894	44892894	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44892894G>C	ENST00000341255.3	-	2	1052	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	181										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCGCATGCCGGAGCGGAGACT	0.622																																						uc003beu.1		NaN																	0				ovary(1)	1						c.(541-543)CTC>CTG		leucine zipper, down-regulated in cancer 1-like							36.0	38.0	37.0					22																	44892894		2202	4300	6502	SO:0001819	synonymous_variant	84247							g.chr22:44892894G>C	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.543C>G	22.37:g.44892894G>C							p.L181L	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	880	-		Ovarian(80;0.024)|all_neural(38;0.0416)	181					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.543C>G	CCDS33662.1																																																																																				0.622	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1		NM_032287		19	29	0	0	0	0.006122	0	19	29		
C3orf20	84077	broad.mit.edu	37	3	14756871	14756871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:14756871G>A	ENST00000253697.3	+	9	1841	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*	C3orf20_ENST00000435614.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	463						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCCACAAGTGGAGCTGGACTT	0.537																																						uc003byy.2		NaN																	0		p.W463*(1)		ovary(3)|skin(1)	4						c.(1387-1389)TGG>TGA		hypothetical protein LOC84077							113.0	94.0	100.0					3																	14756871		2203	4300	6503	SO:0001587	stop_gained	84077					cytoplasm|integral to membrane		g.chr3:14756871G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1389G>A	3.37:g.14756871G>A	ENSP00000253697:p.Trp463*					C3orf20_uc003byz.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bza.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bzb.1_5'UTR	p.W463*	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			9	1793	+			463					Q7L0U6|Q8NCP2|Q9H0I7	Nonsense_Mutation	SNP	ENST00000253697.3	37	c.1389G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	39	7.743980	0.98465	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	.	.	.	4.62	4.62	0.57501	.	0.000000	0.41396	D	0.000887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7622	12.8433	0.57815	0.0:0.0:1.0:0.0	.	.	.	.	X	463;341;341	.	ENSP00000253697:W463X	W	+	3	0	C3orf20	14731875	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.277000	0.58939	2.403000	0.81681	0.591000	0.81541	TGG		0.537	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1		NM_032137		7	68	0	0	0	0.02938	0	7	68		
TMPPE	643853	broad.mit.edu	37	3	33134911	33134911	+	Silent	SNP	G	G	A	rs367832132		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:33134911G>A	ENST00000342462.4	-	2	967	c.777C>T	c.(775-777)gtC>gtT	p.V259V	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Silent_p.V122V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	259						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCAGAGGAGCGACAGCCGTCC	0.537																																						uc003cfk.2		NaN																	0					0						c.(775-777)GTC>GTT		transmembrane protein with		G	,,,,	0,4406		0,0,2203	111.0	97.0	102.0		,777,,,366	-11.8	0.0	3		102	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron,coding-synonymous	GLB1,TMPPE	NM_000404.2,NM_001039770.2,NM_001079811.1,NM_001135602.1,NM_001136238.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,259/454,,,122/317	33134911	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33134911G>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.777C>T	3.37:g.33134911G>A						GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.V122V	p.V259V	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN			2	968	-			259					B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.777C>T	CCDS33732.1																																																																																				0.537	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1		NM_001039770		24	86	0	0	0	0.030593	0	24	86		
SCN5A	6331	broad.mit.edu	37	3	38591869	38591869	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:38591869A>G	ENST00000333535.4	-	28	6143	c.5994T>C	c.(5992-5994)agT>agC	p.S1998S	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Silent_p.S1980S|SCN5A_ENST00000451551.2_Silent_p.S1944S|SCN5A_ENST00000443581.1_Silent_p.S1997S|SCN5A_ENST00000413689.1_Silent_p.S1998S|SCN5A_ENST00000423572.2_Silent_p.S1997S|SCN5A_ENST00000450102.2_Silent_p.S1944S|SCN5A_ENST00000455624.2_Silent_p.S1965S|SCN5A_ENST00000449557.2_Silent_p.S1944S|SCN5A_ENST00000414099.2_Silent_p.S1980S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1998					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGAGATCTTCACTGTGGCTGT	0.597																																						uc003cio.2		NaN																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5992-5994)AGT>AGC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						73.0	76.0	75.0					3																	38591869		2018	4180	6198	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591869A>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5994T>C	3.37:g.38591869A>G						SCN5A_uc003cin.2_Silent_p.S1997S|SCN5A_uc003cil.3_Silent_p.S1998S|SCN5A_uc010hhi.2_Silent_p.S1980S|SCN5A_uc010hhk.2_Silent_p.S1965S|SCN5A_uc011ayr.1_Silent_p.S1944S	p.S1998S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6188	-	Medulloblastoma(35;0.163)		1998					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.5994T>C	CCDS46796.1																																																																																				0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1		NM_198056		15	91	0	0	0	0.0333	0	15	91		
PHLDB2	90102	broad.mit.edu	37	3	111604194	111604194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:111604194G>A	ENST00000431670.2	+	2	1681	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	PHLDB2_ENST00000477695.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D424N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D451N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D424N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	424						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGACGTGATGACCTGATGGA	0.522																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(1270-1272)GAC>AAC		pleckstrin homology-like domain, family B,							74.0	79.0	77.0					3																	111604194		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111604194G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1270G>A	3.37:g.111604194G>A	ENSP00000405405:p.Asp424Asn					PHLDB2_uc003dyc.2_Missense_Mutation_p.D451N|PHLDB2_uc003dyd.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyg.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyh.2_Missense_Mutation_p.D424N|PHLDB2_uc003dye.3_Missense_Mutation_p.D424N|PHLDB2_uc003dyf.3_Missense_Mutation_p.D424N	p.D424N	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1681	+			424					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1270G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746758	0.69418	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.38560	1.13;1.15;1.14;1.16;1.15;1.14	5.74	5.74	0.90152	.	0.147021	0.64402	D	0.000009	T	0.61375	0.2342	M	0.68593	2.085	0.50813	D	0.999895	B;D;D;P;P	0.63046	0.022;0.992;0.972;0.51;0.51	B;P;P;B;B	0.59357	0.006;0.856;0.742;0.154;0.23	T	0.60393	-0.7272	10	0.56958	D	0.05	.	19.1176	0.93348	0.0:0.0:1.0:0.0	.	424;424;424;424;451	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	451;451;424;424;424;424;424;424;424	ENSP00000377500:D451N;ENSP00000405405:D424N;ENSP00000405292:D424N;ENSP00000418296:D424N;ENSP00000377502:D424N;ENSP00000418319:D424N	ENSP00000352764:D451N	D	+	1	0	PHLDB2	113086884	1.000000	0.71417	0.384000	0.26145	0.739000	0.42172	5.559000	0.67326	2.890000	0.99128	0.650000	0.86243	GAC		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		10	113	0	0	0	0.008291	0	10	113		
PARP9	83666	broad.mit.edu	37	3	122259634	122259634	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:122259634G>A	ENST00000360356.2	-	8	1782	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	PARP9_ENST00000477522.2_Silent_p.L484L|PARP9_ENST00000492382.1_Silent_p.L64L|PARP9_ENST00000462315.1_Silent_p.L484L|PARP9_ENST00000471785.1_Silent_p.L484L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	519					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AATCCCATCAGATTGATGGCA	0.438																																						uc010hri.2		NaN																	0				ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1555-1557)CTG>TTG		poly (ADP-ribose) polymerase family, member 9							127.0	127.0	127.0					3																	122259634		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259634G>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1555C>T	3.37:g.122259634G>A						PARP9_uc003eff.3_Silent_p.L484L|PARP9_uc011bjs.1_Silent_p.L484L|PARP9_uc003efg.2_Silent_p.L64L|PARP9_uc003efi.2_Silent_p.L484L|PARP9_uc003efh.2_Silent_p.L519L|PARP9_uc003efj.2_Silent_p.L484L	p.L519L	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1700	-			519					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.1555C>T	CCDS3014.1																																																																																				0.438	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1		NM_031458		9	161	0	0	0	0.004482	0	9	161		
COL6A6	131873	broad.mit.edu	37	3	130293317	130293317	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:130293317G>A	ENST00000358511.6	+	7	3526	c.3495G>A	c.(3493-3495)aaG>aaA	p.K1165K	COL6A6_ENST00000453409.2_Silent_p.K1165K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1165	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGAACTGAAGAAGGTCAATA	0.463																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3493-3495)AAG>AAA		collagen type VI alpha 6 precursor							55.0	56.0	55.0					3																	130293317		1976	4161	6137	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293317G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3495G>A	3.37:g.130293317G>A							p.K1165K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3526	+			1165			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3495G>A	CCDS46911.1																																																																																				0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		17	61	0	0	0	0.028581	0	17	61		
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:133524732G>A	ENST00000466490.2	+	2	325	c.40G>A	c.(40-42)Ggt>Agt	p.G14S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	14					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGATGGCGGCGGTGCCGGGGG	0.672																																						uc003epx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(40-42)GGT>AGT		signal recognition particle receptor, beta							44.0	46.0	45.0					3																	133524732		2202	4299	6501	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133524732G>A	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.40G>A	3.37:g.133524732G>A	ENSP00000418401:p.Gly14Ser						p.G14S	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			1	56	+			14					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.40G>A	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	G	7.567	0.665835	0.14710	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.42513	2.6;0.97	3.82	2.02	0.26589	.	0.944627	0.08711	U	0.904980	T	0.26085	0.0636	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28396	-1.0045	10	0.13108	T	0.6	-0.0487	6.0986	0.20035	0.3205:0.0:0.6795:0.0	.	14	Q9Y5M8	SRPRB_HUMAN	S	14	ENSP00000418401:G14S;ENSP00000417096:G14S	ENSP00000418401:G14S	G	+	1	0	SRPRB	135007422	0.001000	0.12720	0.001000	0.08648	0.244000	0.25665	0.108000	0.15396	0.587000	0.29643	-0.157000	0.13467	GGT		0.672	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2				21	61	0	0	0	0.010504	0	21	61		
PLD1	5337	broad.mit.edu	37	3	171404524	171404524	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:171404524G>A	ENST00000351298.4	-	16	1944	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L	PLD1_ENST00000340989.4_Silent_p.L606L|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	606	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACGGGTGAAAGAGTTTGAAGT	0.368																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NaN																	0				ovary(2)|lung(1)	3						c.(1816-1818)CTC>CTT		phospholipase D1 isoform a	Choline(DB00122)						136.0	143.0	141.0					3																	171404524		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171404524G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1818C>T	3.37:g.171404524G>A						PLD1_uc003fht.2_Intron	p.L606L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1934	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		606			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.1818C>T	CCDS3216.1																																																																																				0.368	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662		17	185	0	0	0	0.007413	0	17	185		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				6	87	0	0	0	0.02938	0	6	87		
FXR1	8087	broad.mit.edu	37	3	180675620	180675620	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:180675620A>G	ENST00000357559.4	+	10	1278	c.894A>G	c.(892-894)ggA>ggG	p.G298G	FXR1_ENST00000468861.1_Silent_p.G213G|FXR1_ENST00000305586.7_Silent_p.G213G|FXR1_ENST00000445140.2_Silent_p.G298G|FXR1_ENST00000480918.1_Silent_p.G285G|FXR1_ENST00000491062.1_Silent_p.G249G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAGTAATTGGAAAAAATGGCA	0.343																																						uc003fkq.2		NaN																	0				breast(1)	1						c.(892-894)GGA>GGG		fragile X mental retardation-related protein 1							82.0	91.0	88.0					3																	180675620		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675620A>G	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.894A>G	3.37:g.180675620A>G						FXR1_uc003fkp.2_Silent_p.G213G|FXR1_uc003fkr.2_Silent_p.G298G|FXR1_uc011bqj.1_Silent_p.G212G|FXR1_uc003fks.2_Silent_p.G212G|FXR1_uc011bqk.1_Silent_p.G249G|FXR1_uc011bql.1_Silent_p.G285G	p.G298G	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	916	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		298			KH 2.		A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.894A>G	CCDS3238.1																																																																																				0.343	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5				10	76	0	0	0	0.008291	0	10	76		
PTPN13	5783	broad.mit.edu	37	4	87671842	87671842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:87671842C>G	ENST00000411767.2	+	18	2933	c.2870C>G	c.(2869-2871)gCt>gGt	p.A957G	PTPN13_ENST00000436978.1_Missense_Mutation_p.A957G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A957G|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.A957G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	957					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGACAAAGCTTCATGGGAG	0.423																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(2869-2871)GCT>GGT		protein tyrosine phosphatase, non-receptor type							53.0	50.0	51.0					4																	87671842		1893	4122	6015	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87671842C>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2870C>G	4.37:g.87671842C>G	ENSP00000407249:p.Ala957Gly					PTPN13_uc003hpy.2_Missense_Mutation_p.A957G|PTPN13_uc003hqa.2_Missense_Mutation_p.A957G|PTPN13_uc003hqb.2_Intron	p.A957G	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3350	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	957					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2870C>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031806	0.35797	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54279	0.58;0.63;0.62;0.63	6.16	6.16	0.99307	.	0.570966	0.15746	N	0.246676	T	0.44371	0.1290	L	0.36672	1.1	0.28698	N	0.904241	B;B;B	0.24882	0.052;0.113;0.089	B;B;B	0.26969	0.075;0.05;0.075	T	0.32877	-0.9890	10	0.30078	T	0.28	.	12.5538	0.56242	0.1306:0.7437:0.1258:0.0	.	957;957;957	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	G	957;957;957;957;925	ENSP00000408368:A957G;ENSP00000394794:A957G;ENSP00000407249:A957G;ENSP00000426626:A957G	ENSP00000349909:A925G	A	+	2	0	PTPN13	87890866	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.057000	0.41365	2.937000	0.99478	0.650000	0.86243	GCT		0.423	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				11	32	0	0	0	0.008291	0	11	32		
SLC25A31	83447	broad.mit.edu	37	4	128651894	128651894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:128651894G>T	ENST00000281154.4	+	1	362	c.194G>T	c.(193-195)gGc>gTc	p.G65V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	65					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CGGTACAAAGGCATGGTGGAC	0.677																																						uc003ifl.2		NaN																	0					0						c.(193-195)GGC>GTC		solute carrier family 25 (mitochondrial carrier;							35.0	33.0	34.0					4																	128651894		2202	4300	6502	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651894G>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.194G>T	4.37:g.128651894G>T	ENSP00000281154:p.Gly65Val						p.G65V	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			1	340	+			65			Solcar 1.			Missense_Mutation	SNP	ENST00000281154.4	37	c.194G>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419369	0.42918	.	.	ENSG00000151475	ENST00000281154	D	0.81908	-1.55	4.84	3.08	0.35506	Mitochondrial carrier domain (2);	0.000000	0.49305	D	0.000154	D	0.94142	0.8121	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92635	0.6119	10	0.87932	D	0	-13.3142	7.8302	0.29338	0.0882:0.1634:0.7483:0.0	.	65	Q9H0C2	ADT4_HUMAN	V	65	ENSP00000281154:G65V	ENSP00000281154:G65V	G	+	2	0	SLC25A31	128871344	1.000000	0.71417	0.937000	0.37676	0.028000	0.11728	4.776000	0.62354	0.732000	0.32470	0.655000	0.94253	GGC		0.677	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2		NM_031291		5	33	1	0	0.000602214	0.014758	0.000609258	5	33		
ADAM29	11086	broad.mit.edu	37	4	175899002	175899002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:175899002C>T	ENST00000359240.3	+	5	2996	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q776*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q776*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q776*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	776	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCCTTCTCAGAGTCAACC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2326-2328)CAG>TAG		ADAM metallopeptidase domain 29 preproprotein							175.0	158.0	163.0					4																	175899002		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899002C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2326C>T	4.37:g.175899002C>T	ENSP00000352177:p.Gln776*					ADAM29_uc003iud.2_Nonsense_Mutation_p.Q776*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q776*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q776*	p.Q776*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2996	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	776			Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|5.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.2326C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	38	6.749396	0.97809	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	0.945	-0.0668	0.13762	.	.	.	.	.	.	.	.	.	.	.	0.33225	D	0.555176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8229	0.18538	0.3116:0.6884:0.0:0.0	.	.	.	.	X	776	.	.	Q	+	1	0	ADAM29	176135577	0.041000	0.20044	0.005000	0.12908	0.012000	0.07955	1.894000	0.39768	-0.046000	0.13446	-0.554000	0.04202	CAG		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					14	115	0	0	0	0.020292	0	14	115		
PRDM9	56979	broad.mit.edu	37	5	23526534	23526534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:23526534G>A	ENST00000296682.3	+	11	1519	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	446					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.S446N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATCCACACAGCCGTAATGAC	0.473										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1336-1338)AGC>AAC		PR domain containing 9							69.0	69.0	69.0					5																	23526534		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526534G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1337G>A	5.37:g.23526534G>A	ENSP00000296682:p.Ser446Asn	HNSCC(3;0.000094)					p.S446N	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1519	+			446					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1337G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.592076	0.00864	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09163	3.01	2.71	-2.58	0.06228	.	1.035620	0.07708	N	0.941584	T	0.05410	0.0143	N	0.17379	0.485	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43032	-0.9416	10	0.26408	T	0.33	-7.0E-4	3.6069	0.08046	0.4451:0.0:0.3814:0.1735	.	446	Q9NQV7	PRDM9_HUMAN	N	446;240	ENSP00000296682:S446N	ENSP00000253473:S240N	S	+	2	0	PRDM9	23562291	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.177000	0.03096	-0.681000	0.05204	0.505000	0.49811	AGC		0.473	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		69	67	0	0	0	0.01441	0	69	67		
PDZD2	23037	broad.mit.edu	37	5	32091004	32091004	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:32091004G>A	ENST00000438447.1	+	20	7838	c.7450G>A	c.(7450-7452)Gag>Aag	p.E2484K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2484K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2484					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAGCTCCAGGAGCTGAGAGC	0.592																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7450-7452)GAG>AAG		PDZ domain containing 2							59.0	59.0	59.0					5																	32091004		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091004G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7450G>A	5.37:g.32091004G>A	ENSP00000402033:p.Glu2484Lys					PDZD2_uc003jhm.2_Missense_Mutation_p.E2484K	p.E2484K	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7838	+			2484					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7450G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974276	0.74246	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.14266	2.52;2.52	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000051	T	0.19967	0.0480	M	0.71581	2.175	0.39154	D	0.962278	P	0.46395	0.877	B	0.40741	0.339	T	0.05084	-1.0907	10	0.40728	T	0.16	.	16.4995	0.84253	0.0:0.0:1.0:0.0	.	2484	O15018	PDZD2_HUMAN	K	2484;2285;2484	ENSP00000402033:E2484K;ENSP00000282493:E2484K	ENSP00000282493:E2484K	E	+	1	0	PDZD2	32126761	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.567000	0.73983	2.490000	0.84030	0.561000	0.74099	GAG		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				12	171	0	0	0	0.010729	0	12	171		
SPINK5	11005	broad.mit.edu	37	5	147481356	147481356	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:147481356G>A	ENST00000256084.7	+	15	1357	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E439K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E439K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	439	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTGTAGTGAATACCGCAA	0.428																																						uc003lox.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1315-1317)GAA>AAA		serine peptidase inhibitor, Kazal type 5 isoform							92.0	88.0	89.0					5																	147481356		1879	4109	5988	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147481356G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1315G>A	5.37:g.147481356G>A	ENSP00000256084:p.Glu439Lys					SPINK5_uc010jgs.1_Missense_Mutation_p.E411K|SPINK5_uc010jgr.2_Missense_Mutation_p.E420K|SPINK5_uc003low.2_Missense_Mutation_p.E439K|SPINK5_uc003loy.2_Missense_Mutation_p.E439K	p.E439K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1388	+			439			Kazal-like 7.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1315G>A	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123613	0.37436	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	3.99	3.11	0.35812	Proteinase inhibitor I1, Kazal (1);	0.235349	0.30051	N	0.010532	T	0.17109	0.0411	M	0.62209	1.925	0.09310	N	1	P;D;P;P	0.55172	0.589;0.97;0.949;0.712	B;P;P;B	0.58331	0.223;0.837;0.642;0.279	T	0.06661	-1.0814	10	0.20046	T	0.44	-15.853	9.856	0.41086	0.0:0.2078:0.7922:0.0	.	420;439;439;439	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	K	439;439;420;439	ENSP00000381472:E439K;ENSP00000352936:E439K;ENSP00000421519:E420K;ENSP00000256084:E439K	ENSP00000256084:E439K	E	+	1	0	SPINK5	147461549	0.931000	0.31567	0.020000	0.16555	0.002000	0.02628	1.994000	0.40757	1.236000	0.43740	-0.172000	0.13284	GAA		0.428	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698		8	76	0	0	0	0.004482	0	8	76		
TBC1D9B	23061	broad.mit.edu	37	5	179290667	179290667	+	Silent	SNP	G	G	A	rs199501173		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:179290667G>A	ENST00000356834.3	-	22	3571	c.3534C>T	c.(3532-3534)ggC>ggT	p.G1178G	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Silent_p.G337G|TBC1D9B_ENST00000355235.3_Silent_p.G1161G|TBC1D9B_ENST00000444477.2_Silent_p.G319G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1178						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCCGCCCACCAGCA	0.627																																						uc003mlh.2		NaN																	0				breast(1)|skin(1)	2						c.(3532-3534)GGC>GGT		TBC1 domain family, member 9B (with GRAM domain)							53.0	49.0	50.0					5																	179290667		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179290667G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3534C>T	5.37:g.179290667G>A						TBC1D9B_uc003mli.2_Silent_p.G1161G|TBC1D9B_uc003mlj.2_Silent_p.G1160G|TBC1D9B_uc003mlf.2_Silent_p.G252G|TBC1D9B_uc003mlg.2_Silent_p.G337G|TBC1D9B_uc011dgv.1_Silent_p.G337G	p.G1178G	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3571	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1178					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.3534C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.293651	0.01375	.	.	ENSG00000197226	ENST00000524222	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40403	-0.9565	4	.	.	.	-22.95	2.014	0.03494	0.3135:0.07:0.2528:0.3637	.	.	.	.	V	221	.	.	A	-	2	0	TBC1D9B	179223273	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-1.797000	0.01749	-2.636000	0.00432	-3.108000	0.00062	GCG		0.627	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3		NM_015043		12	54	0	0	0	0.010729	0	12	54		
PHACTR1	221692	broad.mit.edu	37	6	13273104	13273104	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:13273104G>C	ENST00000379350.1	+	10	1533	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	PHACTR1_ENST00000457702.2_Missense_Mutation_p.Q323H|PHACTR1_ENST00000332995.7_Missense_Mutation_p.Q468H|PHACTR1_ENST00000379335.3_Missense_Mutation_p.Q32H|PHACTR1_ENST00000379329.1_Missense_Mutation_p.Q32H|RP1-257A7.4_ENST00000399446.2_RNA|RP1-257A7.4_ENST00000606627.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	468					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCTGAGCCAGAGGCCAACTG	0.458																																						uc010jpc.2		NaN																	0					0						c.(1402-1404)CAG>CAC		phosphatase and actin regulator 1							207.0	213.0	211.0					6																	13273104		1893	4123	6016	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13273104G>C	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1404G>C	6.37:g.13273104G>C	ENSP00000368655:p.Gln468His					PHACTR1_uc003nag.1_Missense_Mutation_p.Q468H|PHACTR1_uc003nah.1_Missense_Mutation_p.Q468H|TBC1D7_uc003naj.2_Intron	p.Q468H	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		11	1736	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	468			RPEL 3.		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1404G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.173277|4.173277	0.78452|0.78452	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329|ENST00000415087	T;T;T|.	0.40756|.	1.02;1.23;1.25|.	5.91|5.91	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65739|0.65739	0.2720|0.2720	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.988|.	D;D|.	0.91635|.	0.999;0.977|.	T|T	0.69687|0.69687	-0.5078|-0.5078	10|5	0.87932|.	D|.	0|.	-21.0689|-21.0689	10.7112|10.7112	0.45984|0.45984	0.1464:0.0:0.8536:0.0|0.1464:0.0:0.8536:0.0	.|.	468;468|.	Q9C0D0;Q9C0D0-2|.	PHAR1_HUMAN;.|.	H|T	468;468;323;32;32|303	ENSP00000368655:Q468H;ENSP00000329880:Q468H;ENSP00000397669:Q323H|.	ENSP00000329880:Q468H|.	Q|R	+|+	3|2	2|0	PHACTR1|PHACTR1	13381083|13381083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.025000|3.025000	0.49681|0.49681	1.477000|1.477000	0.48234|0.48234	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.458	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1		XM_166420		21	289	0	0	0	0.010504	0	21	289		
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:26188994C>T	ENST00000340756.2	-	1	310	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537																																						uc003ngu.2		NaN																	0					0						c.(310-312)TGA>TAA		histone cluster 1, H4d							101.0	85.0	90.0					6																	26188994		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26188994C>T	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.311G>A	6.37:g.26188994C>T							p.*104*	NM_003539	NP_003530	P62805	H4_HUMAN			1	311	-		all_hematologic(11;0.196)	104					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.311G>A	CCDS4589.1																																																																																				0.537	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1		NM_003539		8	61	0	0	0	0.004482	0	8	61		
NOTCH4	4855	broad.mit.edu	37	6	32163377	32163377	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32163377G>A	ENST00000375023.3	-	30	5987	c.5849C>T	c.(5848-5850)cCc>cTc	p.P1950L	GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1950					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAATCACAGGGCCAGTCATC	0.647																																						uc003obb.2		NaN																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5848-5850)CCC>CTC		notch4 preproprotein							85.0	84.0	84.0					6																	32163377		1508	2709	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163377G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5849C>T	6.37:g.32163377G>A	ENSP00000364163:p.Pro1950Leu					GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P610L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.P1950L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			30	5988	-			1950			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5849C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902207	0.92035	.	.	ENSG00000204301	ENST00000375023	D	0.83075	-1.68	4.92	4.92	0.64577	.	0.000000	0.43747	D	0.000522	T	0.80964	0.4725	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.64144	0.755;0.922	D	0.83910	0.0295	10	0.87932	D	0	.	13.8008	0.63199	0.0:0.0:1.0:0.0	.	1950;1949	Q99466;B0S882	NOTC4_HUMAN;.	L	1950	ENSP00000364163:P1950L	ENSP00000364163:P1950L	P	-	2	0	NOTCH4	32271355	0.991000	0.36638	0.999000	0.59377	0.939000	0.58152	2.977000	0.49297	2.714000	0.92807	0.650000	0.86243	CCC		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				13	111	0	0	0	0.013537	0	13	111		
PSMB8	5696	broad.mit.edu	37	6	32810816	32810816	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32810816C>T	ENST00000374882.3	-	2	248	c.198G>A	c.(196-198)caG>caA	p.Q66Q	TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Silent_p.Q66Q|PSMB8_ENST00000374881.2_Silent_p.Q62Q	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CCATCTCAATCTGAACGTTCC	0.507																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2		NaN																	0				skin(1)	1						c.(196-198)CAG>CAA		proteasome beta 8 subunit isoform E2 proprotein							96.0	85.0	89.0					6																	32810816		1511	2709	4220	SO:0001819	synonymous_variant	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32810816C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.198G>A	6.37:g.32810816C>T						PSMB8_uc003ocf.2_Silent_p.Q62Q|PSMB8_uc011dqh.1_Silent_p.Q66Q	p.Q66Q	NM_148919	NP_683720	P28062	PSB8_HUMAN			2	241	-			66					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.198G>A	CCDS4757.1																																																																																				0.507	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3		NM_148919		7	69	0	0	0	0.004482	0	7	69		
TDRD6	221400	broad.mit.edu	37	6	46657366	46657366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:46657366G>C	ENST00000316081.6	+	1	1501	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E501Q	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	501					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E501K(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAATCCTTCTGAGTTTTGGAT	0.413																																						uc003oyj.2		NaN																	1	Substitution - Missense(1)		breast(1)	breast(3)|ovary(2)|skin(1)	6						c.(1501-1503)GAG>CAG		tudor domain containing 6							107.0	103.0	105.0					6																	46657366		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657366G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1501G>C	6.37:g.46657366G>C	ENSP00000346065:p.Glu501Gln					TDRD6_uc010jze.2_Missense_Mutation_p.E495Q	p.E501Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1501	+			501					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1501G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215265	0.58452	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10005	2.92;2.92	5.88	5.88	0.94601	Maternal tudor protein (1);	0.464674	0.26638	N	0.023266	T	0.19046	0.0457	M	0.73319	2.225	0.34213	D	0.674514	D;D	0.64830	0.993;0.994	D;D	0.67231	0.917;0.95	T	0.02676	-1.1125	10	0.30078	T	0.28	-15.7928	13.1049	0.59241	0.0737:0.0:0.9263:0.0	.	501;501	F5H5M3;O60522	.;TDRD6_HUMAN	Q	501	ENSP00000443299:E501Q;ENSP00000346065:E501Q	ENSP00000346065:E501Q	E	+	1	0	TDRD6	46765325	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	3.557000	0.53741	2.778000	0.95560	0.655000	0.94253	GAG		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		45	125	0	0	0	0.036044	0	45	125		
RTN4IP1	84816	broad.mit.edu	37	6	107067168	107067168	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:107067168G>C	ENST00000369063.3	-	4	994	c.529C>G	c.(529-531)Caa>Gaa	p.Q177E	RTN4IP1_ENST00000539449.1_Missense_Mutation_p.Q177E	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	177						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAGGCAGCTTGAGTATGAGTG	0.413																																						uc003prj.2		NaN																	0					0						c.(529-531)CAA>GAA		reticulon 4 interacting protein 1 precursor							147.0	129.0	135.0					6																	107067168		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107067168G>C	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.529C>G	6.37:g.107067168G>C	ENSP00000358059:p.Gln177Glu					RTN4IP1_uc010kdd.2_Missense_Mutation_p.Q177E|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q77E	p.Q177E	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	4	1006	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	177					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.529C>G	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	4.084	0.013554	0.07959	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.40476	1.03;1.12	6.14	4.23	0.50019	GroES-like (1);	0.093110	0.64402	D	0.000001	T	0.06371	0.0164	N	0.01631	-0.79	0.41306	D	0.987078	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.0	T	0.30707	-0.9969	10	0.02654	T	1	-15.3745	17.1396	0.86749	0.0:0.3305:0.6695:0.0	.	177;177	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	E	177	ENSP00000444261:Q177E;ENSP00000358059:Q177E	ENSP00000358059:Q177E	Q	-	1	0	RTN4IP1	107173861	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	2.052000	0.41316	1.574000	0.49760	0.650000	0.86243	CAA		0.413	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1				10	78	0	0	0	0.008291	0	10	78		
GPRC6A	222545	broad.mit.edu	37	6	117128203	117128203	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:117128203C>T	ENST00000310357.3	-	3	686	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R222Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R222Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	222					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGAGCCAATCGTCCATAGTC	0.408																																						uc003pxj.1		NaN																	0				ovary(4)|skin(2)	6						c.(664-666)CGA>CAA		G protein-coupled receptor, family C, group 6,							182.0	184.0	183.0					6																	117128203		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128203C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.665G>A	6.37:g.117128203C>T	ENSP00000309493:p.Arg222Gln					GPRC6A_uc003pxk.1_Missense_Mutation_p.R222Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R222Q	p.R222Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	687	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	222			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.665G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	c	18.28	3.589494	0.66105	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.83914	-1.78;-1.78;-1.78	5.85	4.08	0.47627	Extracellular ligand-binding receptor (1);	0.135690	0.33496	N	0.004842	T	0.80654	0.4664	L	0.52206	1.635	0.22552	N	0.998992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.989;0.975;0.993	T	0.71636	-0.4533	10	0.18710	T	0.47	.	12.255	0.54619	0.0:0.8638:0.0:0.1362	.	222;222;222	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	Q	222	ENSP00000309493:R222Q;ENSP00000357537:R222Q;ENSP00000433465:R222Q	ENSP00000309493:R222Q	R	-	2	0	GPRC6A	117234896	0.965000	0.33210	0.854000	0.33618	0.552000	0.35366	2.551000	0.45820	1.501000	0.48654	-0.119000	0.15052	CGA		0.408	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2				13	194	0	0	0	0.016723	0	13	194		
UST	10090	broad.mit.edu	37	6	149262491	149262491	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:149262491G>A	ENST00000367463.4	+	3	471	c.368G>A	c.(367-369)aGa>aAa	p.R123K		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	123					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTGCTTCTGAGAATCTTGTCG	0.438																																						uc003qmg.2		NaN																	0				ovary(2)	2						c.(367-369)AGA>AAA		uronyl-2-sulfotransferase							196.0	182.0	187.0					6																	149262491		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149262491G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.368G>A	6.37:g.149262491G>A	ENSP00000356433:p.Arg123Lys						p.R123K	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	3	664	+		Ovarian(120;0.0907)	123			Lumenal (Potential).		B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.368G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171824	0.78452	.	.	ENSG00000111962	ENST00000367463	T	0.73363	-0.74	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	L	0.51422	1.61	0.58432	D	0.999999	B	0.27117	0.168	B	0.37304	0.246	T	0.62779	-0.6782	10	0.21540	T	0.41	-14.3116	20.1588	0.98128	0.0:0.0:1.0:0.0	.	123	Q9Y2C2	UST_HUMAN	K	123	ENSP00000356433:R123K	ENSP00000356433:R123K	R	+	2	0	UST	149304184	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.770000	0.95276	0.563000	0.77884	AGA		0.438	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1		NM_005715		9	159	0	0	0	0.004482	0	9	159		
FKBP14	55033	broad.mit.edu	37	7	30066007	30066007	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30066007G>A	ENST00000222803.5	-	1	293	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000449726.1_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						TTGGTCTTGCGATGGCAGATG	0.468																																						uc003tal.1		NaN																	0					0						c.(118-120)CGC>TGC		FK506 binding protein 14 precursor							145.0	140.0	142.0					7																	30066007		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066007G>A	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.118C>T	7.37:g.30066007G>A	ENSP00000222803:p.Arg40Cys					PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	p.R40C	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			1	262	-			40						Missense_Mutation	SNP	ENST00000222803.5	37	c.118C>T	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583869	0.86748	.	.	ENSG00000106080	ENST00000222803	T	0.47528	0.84	5.9	4.97	0.65823	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.048812	0.85682	N	0.000000	T	0.67581	0.2908	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68842	-0.5302	10	0.54805	T	0.06	-15.1174	12.6561	0.56788	0.0:0.0:0.7212:0.2788	.	40	Q9NWM8	FKB14_HUMAN	C	40	ENSP00000222803:R40C	ENSP00000222803:R40C	R	-	1	0	FKBP14	30032532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.093000	0.50217	2.793000	0.96121	0.591000	0.81541	CGC		0.468	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1		NM_017946		8	119	0	0	0	0.004482	0	8	119		
AQP1	358	broad.mit.edu	37	7	30962182	30962182	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30962182G>T	ENST00000311813.4	+	3	608	c.553G>T	c.(553-555)Gac>Tac	p.D185Y	AQP1_ENST00000434909.2_Missense_Mutation_p.D245Y|AQP1_ENST00000409611.1_Missense_Mutation_p.D134Y|AQP1_ENST00000409899.1_Missense_Mutation_p.D70Y|AQP1_ENST00000441328.2_Missense_Mutation_p.D102Y|AQP1_ENST00000509504.1_Missense_Mutation_p.D362Y|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	185					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	ctcACAGATTGACTACACTGG	0.557																																						uc003tbv.1		NaN																	0					0						c.(553-555)GAC>TAC		aquaporin 1	Acetazolamide(DB00819)						208.0	211.0	210.0					7																	30962182		2203	4300	6503	SO:0001583	missense	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30962182G>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.553G>T	7.37:g.30962182G>T	ENSP00000311165:p.Asp185Tyr					AQP1_uc011kac.1_Missense_Mutation_p.D245Y|AQP1_uc010kwf.1_Missense_Mutation_p.D102Y|AQP1_uc010kwg.1_Missense_Mutation_p.D66Y|AQP1_uc010kwh.1_Missense_Mutation_p.D134Y	p.D185Y	NM_198098	NP_932766	P29972	AQP1_HUMAN			3	610	+		Melanoma(862;0.16)	185			Extracellular.		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.553G>T	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355939	0.61293	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.27	5.27	0.74061	Aquaporin-like (2);	0.185668	0.64402	D	0.000020	D	0.84629	0.5514	N	0.10685	0.025	0.40576	D	0.981349	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.965;0.999	D	0.87374	0.2352	10	0.46703	T	0.11	0.0147	16.397	0.83610	0.0:0.0:1.0:0.0	.	245;134;70;185	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	Y	245;90;185;170;102;70;134;362	ENSP00000395059:D245Y;ENSP00000311165:D185Y;ENSP00000405698:D102Y;ENSP00000386712:D70Y;ENSP00000387178:D134Y;ENSP00000421315:D362Y	ENSP00000265298:D90Y	D	+	1	0	RP5-877J2.1;AQP1	30928707	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	4.733000	0.62036	2.450000	0.82876	0.555000	0.69702	GAC		0.557	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3		NM_000385		19	307	1	0	5.26018e-13	0.012319	5.54885e-13	19	307		
AMPH	273	broad.mit.edu	37	7	38431407	38431407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:38431407T>C	ENST00000356264.2	-	19	2035	c.1820A>G	c.(1819-1821)gAc>gGc	p.D607G	AMPH_ENST00000325590.5_Missense_Mutation_p.D565G|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Missense_Mutation_p.D565G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	607					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGCTAGCTGGTCAGCAGCCCC	0.547																																						uc003tgu.2		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(1819-1821)GAC>GGC		amphiphysin isoform 1							52.0	52.0	52.0					7																	38431407		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431407T>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1820A>G	7.37:g.38431407T>C	ENSP00000348602:p.Asp607Gly					AMPH_uc003tgv.2_Missense_Mutation_p.D565G|AMPH_uc003tgt.2_Missense_Mutation_p.D492G|AMPH_uc003tgw.1_Missense_Mutation_p.D630G|AMPH_uc010kxl.1_RNA	p.D607G	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1889	-			607					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1820A>G	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.641|9.641	1.139065|1.139065	0.21205|0.21205	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.60548|.	0.18;0.19;0.18|.	4.04|4.04	-0.0483|-0.0483	0.13839|0.13839	.|.	0.634659|.	0.15962|.	N|.	0.236209|.	T|.	0.16085|.	0.0387|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25521|.	0.002;0.001;0.128|.	B;B;B|.	0.20955|.	0.001;0.003;0.032|.	T|.	0.29488|.	-1.0010|.	10|.	0.39692|.	T|.	0.17|.	-13.7448|-13.7448	6.2556|6.2556	0.20872|0.20872	0.0:0.0949:0.3198:0.5853|0.0:0.0949:0.3198:0.5853	.|.	565;607;495|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	G|W	565;607;565;509|489	ENSP00000317441:D565G;ENSP00000348602:D607G;ENSP00000390734:D565G|.	ENSP00000317441:D565G|.	D|X	-|-	2|3	0|0	AMPH|AMPH	38397932|38397932	0.057000|0.057000	0.20700|0.20700	0.001000|0.001000	0.08648|0.08648	0.248000|0.248000	0.25809|0.25809	1.301000|1.301000	0.33447|0.33447	0.400000|0.400000	0.25396|0.25396	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635		5	45	0	0	0	0.02938	0	5	45		
RABGEF1	27342	broad.mit.edu	37	7	66240337	66240337	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:66240337G>A	ENST00000284957.5	+	3	380	c.303G>A	c.(301-303)gtG>gtA	p.V101V	KCTD7_ENST00000510829.2_Silent_p.V101V|KCTD7_ENST00000451741.2_Silent_p.V101V|RABGEF1_ENST00000439720.2_Silent_p.V114V|RABGEF1_ENST00000450873.2_Silent_p.V101V|KCTD7_ENST00000380828.2_Silent_p.V141V|RABGEF1_ENST00000437078.2_Silent_p.V115V|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	279					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTACCACAGTGAAGAAATTCT	0.468																																						uc011kee.1		NaN																	0				ovary(1)	1						c.(343-345)GTG>GTA		RAB guanine nucleotide exchange factor (GEF) 1							66.0	64.0	65.0					7																	66240337		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240337G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.303G>A	7.37:g.66240337G>A						RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.V101V|RABGEF1_uc003tvh.2_Silent_p.V101V|RABGEF1_uc003tvi.2_5'UTR	p.V115V	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			3	509	+			279					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.345G>A	CCDS5535.1																																																																																				0.468	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504		6	66	0	0	0	0.021553	0	6	66		
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	C	T	rs546644102		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:100468309C>T	ENST00000200457.4	+	6	1303	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	315	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17553	0.0		0.0	False		,,,				2504	0.0					uc003uww.2		NaN																	0				central_nervous_system(2)	2						c.(943-945)CGC>TGC		thyroid receptor-interacting protein 6							121.0	106.0	111.0					7																	100468309		2203	4300	6503	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100468309C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.943C>T	7.37:g.100468309C>T	ENSP00000200457:p.Arg315Cys					TRIP6_uc010lhk.1_RNA	p.R315C	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			6	1113	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		315			LIM zinc-binding 1.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.943C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.917268	0.92249	.	.	ENSG00000087077	ENST00000200457	D	0.87650	-2.28	5.79	5.79	0.91817	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.92289	0.5840	10	0.66056	D	0.02	.	17.535	0.87827	0.0:1.0:0.0:0.0	.	315	Q15654	TRIP6_HUMAN	C	315	ENSP00000200457:R315C	ENSP00000200457:R315C	R	+	1	0	TRIP6	100306245	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.499000	0.66937	2.737000	0.93849	0.645000	0.84053	CGC		0.617	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2		NM_003302		6	44	0	0	0	0.02938	0	6	44		
AKR1B15	441282	broad.mit.edu	37	7	134260673	134260673	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:134260673G>A	ENST00000457545.2	+	8	997	c.737G>A	c.(736-738)aGa>aAa	p.R246K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R218K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	246							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCTCCGGATAGACCTTGGTGA	0.478																																						uc011kpr.1		NaN																	0				ovary(1)	1						c.(736-738)AGA>AAA		aldo-keto reductase family 1, member B15							35.0	28.0	30.0					7																	134260673		2201	4276	6477	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134260673G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.737G>A	7.37:g.134260673G>A	ENSP00000389289:p.Arg246Lys					AKR1B15_uc011kps.1_Missense_Mutation_p.R218K	p.R246K	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			8	1036	+			246					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.737G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854914	0.71719	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.17213	2.29;2.29	3.87	3.87	0.44632	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.32406	0.0828	L	0.49455	1.56	0.50171	D	0.999852	B;D	0.56521	0.273;0.976	B;D	0.69307	0.417;0.963	T	0.02683	-1.1124	9	0.24483	T	0.36	.	14.5989	0.68427	0.0:0.0:1.0:0.0	.	218;246	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	K	246;218	ENSP00000389289:R246K;ENSP00000397009:R218K	ENSP00000397009:R218K	R	+	2	0	AKR1B15	133911213	0.997000	0.39634	0.991000	0.47740	0.900000	0.52787	8.914000	0.92735	1.981000	0.57761	0.537000	0.68136	AGA		0.478	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2				4	26	0	0	0	0.009096	0	4	26		
CLCN1	1180	broad.mit.edu	37	7	143018480	143018480	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143018480G>A	ENST00000343257.2	+	4	543	c.456G>A	c.(454-456)caG>caA	p.Q152Q		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	152					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTACGCGCAGATGCAGCCCA	0.617																																						uc003wcr.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(454-456)CAG>CAA		chloride channel 1, skeletal muscle							271.0	198.0	223.0					7																	143018480		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018480G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.456G>A	7.37:g.143018480G>A						CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_5'UTR	p.Q152Q	NM_000083	NP_000074	P35523	CLCN1_HUMAN			4	543	+	Melanoma(164;0.205)		152			Helical; (By similarity).		A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.456G>A	CCDS5881.1																																																																																				0.617	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1		NM_000083		6	46	0	0	0	0.021553	0	6	46		
FAM115C	285966	broad.mit.edu	37	7	143421796	143421796	+	Intron	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143421796G>C	ENST00000441159.2	+	7	2571				FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000357344.4_Silent_p.L837L|FAM115C_ENST00000425618.2_Silent_p.L556L|FAM115C_ENST00000444908.2_Silent_p.L837L|FAM115C_ENST00000411497.2_Silent_p.L556L			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C						hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TACAGGTACTGAGCAGAAATT	0.572																																						uc003wdf.2		NaN																	0					0						c.(2509-2511)CTG>CTC		hypothetical protein LOC285966 isoform A							11.0	9.0	10.0					7																	143421796		1421	2870	4291	SO:0001627	intron_variant	285966							g.chr7:143421796G>C	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2505+6G>C	7.37:g.143421796G>C						FAM115C_uc003wdg.2_Silent_p.L556L|FAM115C_uc011ktk.1_Silent_p.L837L|FAM115C_uc003wdh.2_Silent_p.L837L|FAM115C_uc011ktm.1_Silent_p.L837L|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Intron|FAM115C_uc003wdi.1_Intron	p.L837L	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			7	2594	+			Error:Variant_position_missing_in_A6NFQ2_after_alignment					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Silent	SNP	ENST00000441159.2	37	c.2511G>C		.	.	.	.	.	.	.	.	.	.	g	6.105	0.387660	0.11581	.	.	ENSG00000170379	ENST00000518791	.	.	.	4.09	-0.208	0.13185	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	-3.6389	4.7137	0.12884	0.3029:0.0:0.543:0.1541	.	.	.	.	Q	652	.	.	E	+	1	0	FAM115C	143052729	0.019000	0.18553	0.013000	0.15412	0.216000	0.24613	0.923000	0.28757	-0.023000	0.13963	-0.474000	0.04947	GAG		0.572	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1		NM_173678		4	35	0	0	0	0.021553	0	4	35		
DPP6	1804	broad.mit.edu	37	7	154680984	154680984	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:154680984G>A	ENST00000377770.3	+	24	2448	c.2307G>A	c.(2305-2307)atG>atA	p.M769I	DPP6_ENST00000404039.1_Missense_Mutation_p.M705I|DPP6_ENST00000332007.3_Missense_Mutation_p.M707I|DPP6_ENST00000427557.1_Missense_Mutation_p.M662I			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	769					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGTGCAGATGACCAAGGTAG	0.537																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	0				pancreas(3)|breast(1)	4						c.(2305-2307)ATG>ATA		dipeptidyl-peptidase 6 isoform 1							43.0	45.0	44.0					7																	154680984		2025	4169	6194	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154680984G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2307G>A	7.37:g.154680984G>A	ENSP00000367001:p.Met769Ile					DPP6_uc003wli.2_Missense_Mutation_p.M705I|DPP6_uc003wlm.2_Missense_Mutation_p.M707I|DPP6_uc011kvq.1_Missense_Mutation_p.M662I	p.M769I	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		24	2436	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	769			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2307G>A		.	.	.	.	.	.	.	.	.	.	G	10.42	1.346256	0.24426	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.49	4.49	0.54785	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.216034	0.53938	N	0.000048	T	0.18676	0.0448	N	0.22421	0.69	0.32849	D	0.506364	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.003;0.003	T	0.16689	-1.0394	10	0.20046	T	0.44	-29.5864	9.7242	0.40322	0.0:0.161:0.6934:0.1455	.	662;707;769;705	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	I	705;769;707;662	ENSP00000385578:M705I;ENSP00000367001:M769I;ENSP00000328226:M707I;ENSP00000397303:M662I	ENSP00000328226:M707I	M	+	3	0	DPP6	154311917	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.528000	0.60580	2.027000	0.59764	0.563000	0.77884	ATG		0.537	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797		4	24	0	0	0	0.009096	0	4	24		
PBK	55872	broad.mit.edu	37	8	27667830	27667830	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:27667830C>T	ENST00000301905.4	-	8	1424	c.961G>A	c.(961-963)Gat>Aat	p.D321N	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Missense_Mutation_p.D332N	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	321	PDZ-interaction.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CACTAGACATCTGTTTCCAGA	0.358																																						uc003xgi.2		NaN																	0					0						c.(961-963)GAT>AAT		PDZ binding kinase							133.0	111.0	118.0					8																	27667830		2203	4300	6503	SO:0001583	missense	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27667830C>T	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.961G>A	8.37:g.27667830C>T	ENSP00000301905:p.Asp321Asn					ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D332N	p.D321N	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	8	1162	-		Ovarian(32;0.000953)	321			PDZ-interaction.|Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	c.961G>A	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	3.411	-0.120100	0.06838	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	D;D	0.86497	-1.94;-2.13	6.11	0.682	0.17992	Protein kinase, catalytic domain (1);	0.626565	0.17447	N	0.173920	T	0.68622	0.3021	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56463	-0.7975	10	0.27785	T	0.31	-10.6907	9.7428	0.40429	0.0:0.7528:0.1255:0.1217	.	332;321	B4DX68;Q96KB5	.;TOPK_HUMAN	N	321;332	ENSP00000301905:D321N;ENSP00000428489:D332N	ENSP00000301905:D321N	D	-	1	0	PBK	27723749	0.630000	0.27155	0.002000	0.10522	0.097000	0.18754	1.180000	0.32005	0.158000	0.19367	0.655000	0.94253	GAT		0.358	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2		NM_018492		7	106	0	0	0	0.02938	0	7	106		
POP1	10940	broad.mit.edu	37	8	99148933	99148933	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:99148933C>G	ENST00000401707.2	+	8	1316	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	POP1_ENST00000349693.3_Missense_Mutation_p.S412C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	412					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTACCATACTCTTGGATCTCT	0.358																																						uc003yij.3		NaN																	0				ovary(1)|breast(1)	2						c.(1234-1236)TCT>TGT		processing of precursor 1							67.0	64.0	65.0					8																	99148933		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99148933C>G	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1235C>G	8.37:g.99148933C>G	ENSP00000385787:p.Ser412Cys					POP1_uc011lgv.1_Missense_Mutation_p.S412C|POP1_uc003yik.2_Missense_Mutation_p.S412C	p.S412C	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		8	1335	+	Breast(36;1.78e-06)		412					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.1235C>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272079	0.23221	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.38887	1.11;1.11	5.32	5.32	0.75619	.	0.213267	0.41712	D	0.000825	T	0.45115	0.1326	M	0.76838	2.35	0.30245	N	0.794629	B	0.18013	0.025	B	0.14023	0.01	T	0.46247	-0.9205	10	0.35671	T	0.21	-19.5874	13.4379	0.61094	0.0:0.843:0.157:0.0	.	412	Q99575	POP1_HUMAN	C	412	ENSP00000385787:S412C;ENSP00000339529:S412C	ENSP00000339529:S412C	S	+	2	0	POP1	99218109	0.474000	0.25886	0.457000	0.27056	0.353000	0.29299	1.881000	0.39638	2.485000	0.83878	0.655000	0.94253	TCT		0.358	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1		NM_015029		8	67	0	0	0	0.00308	0	8	67		
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:125113410C>T	ENST00000522917.1	+	38	5162	c.4956C>T	c.(4954-4956)aaC>aaT	p.N1652N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.N1652N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1652	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGGGCAACTTCAACTGGC	0.433																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4954-4956)AAC>AAT		fer-1-like 6							88.0	93.0	91.0					8																	125113410		2130	4277	6407	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125113410C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4956C>T	8.37:g.125113410C>T						uc003yqy.1_Intron	p.N1652N	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		38	5162	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1652			C2 6.|Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.4956C>T	CCDS43767.1																																																																																				0.433	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		9	79	0	0	0	0.006214	0	9	79		
ST3GAL1	6482	broad.mit.edu	37	8	134477108	134477108	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:134477108C>T	ENST00000319914.5	-	6	1623	c.596G>A	c.(595-597)gGa>gAa	p.G199E	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G199E|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G199E|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G199E			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	199					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GACATTATCTCCCAGCTCCCG	0.582																																						uc003yuk.2		NaN																	0					0						c.(595-597)GGA>GAA		ST3 beta-galactoside alpha-2,3-sialyltransferase							175.0	157.0	163.0					8																	134477108		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134477108C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.596G>A	8.37:g.134477108C>T	ENSP00000318445:p.Gly199Glu					ST3GAL1_uc003yum.2_Missense_Mutation_p.G199E	p.G199E	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		7	1425	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		199			Lumenal (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.596G>A	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665595	0.14710	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.9	1.99	0.26369	.	0.514437	0.21228	N	0.078022	T	0.16896	0.0406	L	0.35854	1.095	0.22389	N	0.999143	B	0.19935	0.04	B	0.29440	0.102	T	0.35822	-0.9773	10	0.02654	T	1	-5.9724	9.55	0.39304	0.0:0.4532:0.4478:0.0991	.	199	Q11201	SIA4A_HUMAN	E	199;199;199;199;69	ENSP00000318445:G199E;ENSP00000414073:G199E;ENSP00000428540:G199E;ENSP00000430515:G199E;ENSP00000429638:G69E	ENSP00000318445:G199E	G	-	2	0	ST3GAL1	134546290	0.018000	0.18449	0.869000	0.34112	0.882000	0.50991	0.173000	0.16724	0.475000	0.27415	0.561000	0.74099	GGA		0.582	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1		NM_003033		14	145	0	0	0	0.024245	0	14	145		
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:33998823C>G	ENST00000379238.1	-	3	256	c.139G>C	c.(139-141)Gat>Cat	p.D47H	UBAP2_ENST00000449054.1_Missense_Mutation_p.D47H|UBAP2_ENST00000418786.2_Missense_Mutation_p.D47H|UBAP2_ENST00000360802.1_Missense_Mutation_p.D47H|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000539807.1_Missense_Mutation_p.D9H					ubiquitin associated protein 2									p.D47N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328																																						uc003ztq.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(139-141)GAT>CAT		ubiquitin associated protein 2							106.0	102.0	103.0					9																	33998823		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33998823C>G	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.139G>C	9.37:g.33998823C>G	ENSP00000368540:p.Asp47His					UBAP2_uc011loc.1_Missense_Mutation_p.D9H|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Missense_Mutation_p.D9H|UBAP2_uc011lof.1_Missense_Mutation_p.D9H|UBAP2_uc011log.1_Missense_Mutation_p.D46H|UBAP2_uc003ztr.2_Missense_Mutation_p.D9H	p.D47H	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	3	252	-			47						Missense_Mutation	SNP	ENST00000379238.1	37	c.139G>C	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183392	0.94885	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000539807;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.45;1.24;1.24	6.17	6.17	0.99709	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.989;0.999;0.964;0.964;0.999;0.999	T	0.58567	-0.7614	10	0.66056	D	0.02	-17.7086	20.8794	0.99867	0.0:1.0:0.0:0.0	.	47;9;9;9;9;47	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	H	47;47;47;9;9;47;47;47	ENSP00000368540:D47H;ENSP00000416932:D47H;ENSP00000354039:D47H;ENSP00000439329:D9H;ENSP00000404436:D47H;ENSP00000414800:D47H	ENSP00000259602:D47H	D	-	1	0	UBAP2	33988823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.373000	0.79623	2.941000	0.99782	0.655000	0.94253	GAT		0.328	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		16	93	0	0	0	0.0333	0	16	93		
VCP	7415	broad.mit.edu	37	9	35062058	35062058	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35062058C>T	ENST00000358901.6	-	9	1918	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	341					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATAACAATCACATGTGCCC	0.527																																						uc003zvy.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1021-1023)GTG>GTA		valosin-containing protein							253.0	184.0	208.0					9																	35062058		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062058C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1023G>A	9.37:g.35062058C>T						VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V10V|VCP_uc010mki.1_Silent_p.V296V	p.V341V	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	1412	-			341					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1023G>A	CCDS6573.1																																																																																				0.527	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1		NM_007126		14	85	0	0	0	0.016723	0	14	85		
TLN1	7094	broad.mit.edu	37	9	35716479	35716479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35716479C>T	ENST00000314888.9	-	20	2886	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	TLN1_ENST00000540444.1_Missense_Mutation_p.E845K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	845					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTTCCCCCTCAGCATCAGCC	0.572																																						uc003zxt.2		NaN																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2533-2535)GAG>AAG		talin 1							150.0	134.0	140.0					9																	35716479		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716479C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2533G>A	9.37:g.35716479C>T	ENSP00000316029:p.Glu845Lys						p.E845K	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2887	-	all_epithelial(49;0.167)		845					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2533G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	36	5.877653	0.97055	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70045	-0.45;-0.45	6.17	6.17	0.99709	.	0.094831	0.64402	D	0.000001	T	0.78717	0.4327	M	0.81341	2.54	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	T	0.78607	-0.2138	10	0.52906	T	0.07	-10.2651	20.8794	0.99867	0.0:1.0:0.0:0.0	.	845	Q9Y490	TLN1_HUMAN	K	845	ENSP00000316029:E845K;ENSP00000442981:E845K	ENSP00000316029:E845K	E	-	1	0	TLN1	35706479	1.000000	0.71417	0.726000	0.30738	0.959000	0.62525	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289		9	138	0	0	0	0.004482	0	9	138		
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:73235278C>T	ENST00000377111.2	-	15	2050	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000377110.3_Missense_Mutation_p.D603N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	628					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.D607N(1)|p.D603N(1)|p.D475N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGGGAATATCATCCTGTAAT	0.438																																						uc004aid.2		NaN																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1807-1809)GAT>AAT		transient receptor potential cation channel,							221.0	212.0	215.0					9																	73235278		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73235278C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1807G>A	9.37:g.73235278C>T	ENSP00000366315:p.Asp603Asn					TRPM3_uc004ahu.2_Missense_Mutation_p.D433N|TRPM3_uc004ahv.2_Missense_Mutation_p.D405N|TRPM3_uc004ahw.2_Missense_Mutation_p.D475N|TRPM3_uc004ahx.2_Missense_Mutation_p.D462N|TRPM3_uc004ahy.2_Missense_Mutation_p.D465N|TRPM3_uc004ahz.2_Missense_Mutation_p.D452N|TRPM3_uc004aia.2_Missense_Mutation_p.D450N|TRPM3_uc004aib.2_Missense_Mutation_p.D440N|TRPM3_uc004aic.2_Missense_Mutation_p.D603N	p.D603N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			15	2051	-			628			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1807G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.253170	0.80135	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.74;-0.78;-0.74;-0.78;-0.78;-0.78;-0.74;-0.78	6.07	6.07	0.98685	.	0.049104	0.85682	D	0.000000	D	0.83926	0.5360	L	0.57536	1.79	0.58432	D	0.999999	P;B;D;P;P;D;B;P	0.89917	0.562;0.049;1.0;0.882;0.882;0.996;0.364;0.83	P;B;D;P;P;D;B;P	0.91635	0.544;0.039;0.999;0.601;0.601;0.956;0.17;0.482	T	0.76788	-0.2830	10	0.14656	T	0.56	-22.7089	20.6439	0.99570	0.0:1.0:0.0:0.0	.	603;603;593;607;465;462;575;450	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	N	603;603;475;465;462;607;462;450;475;465;630	ENSP00000366315:D603N;ENSP00000366314:D603N;ENSP00000366310:D475N;ENSP00000354066:D465N;ENSP00000366309:D462N;ENSP00000350140:D607N;ENSP00000386127:D462N;ENSP00000379581:D450N;ENSP00000379587:D475N;ENSP00000350791:D465N;ENSP00000389542:D630N	ENSP00000350140:D607N	D	-	1	0	TRPM3	72425098	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.487000	0.81328	2.890000	0.99128	0.650000	0.86243	GAT		0.438	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5		NM_206945		20	209	0	0	0	0.010504	0	20	209		
SPATA31D1	389763	broad.mit.edu	37	9	84606383	84606383	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:84606383C>T	ENST00000344803.2	+	4	1045	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	333					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTAGGTGGCTCTGGTGGGTCA	0.483																																						uc004amn.2		NaN																	0					0						c.(997-999)TCT>TTT		hypothetical protein LOC389763							143.0	133.0	136.0					9																	84606383		1934	4126	6060	SO:0001583	missense	389763					integral to membrane		g.chr9:84606383C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.998C>T	9.37:g.84606383C>T	ENSP00000341988:p.Ser333Phe						p.S333F	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1045	+			333						Missense_Mutation	SNP	ENST00000344803.2	37	c.998C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014827	0.35511	.	.	ENSG00000214929	ENST00000344803	T	0.05717	3.4	3.17	1.27	0.21489	.	1.337960	0.05207	N	0.506029	T	0.10637	0.0260	L	0.36672	1.1	0.09310	N	1	D	0.59767	0.986	P	0.53722	0.733	T	0.25537	-1.0129	10	0.72032	D	0.01	-1.8765	4.3646	0.11218	0.0:0.6301:0.2363:0.1337	.	333	Q6ZQQ2	F75D1_HUMAN	F	333	ENSP00000341988:S333F	ENSP00000341988:S333F	S	+	2	0	FAM75D1	83796203	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	0.929000	0.28844	0.373000	0.24621	-0.171000	0.13296	TCT		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670		9	161	0	0	0	0.008291	0	9	161		
TTC16	158248	broad.mit.edu	37	9	130479144	130479144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:130479144G>A	ENST00000373289.3	+	2	120	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	PTRH1_ENST00000423807.1_5'Flank|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_5'UTR|PTRH1_ENST00000543175.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	14										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGTTGACCAGGGCCCCTCACG	0.602																																						uc004brq.1		NaN																	0					0						c.(40-42)GGC>AGC		tetratricopeptide repeat domain 16							58.0	57.0	57.0					9																	130479144		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479144G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.40G>A	9.37:g.130479144G>A	ENSP00000362386:p.Gly14Ser					PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.G14S|TTC16_uc004brr.1_5'Flank	p.G14S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			2	107	+			14					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.40G>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162456	0.21538	.	.	ENSG00000167094	ENST00000373289	T	0.15487	2.42	3.24	-2.83	0.05769	.	.	.	.	.	T	0.05135	0.0137	N	0.03608	-0.345	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.34329	-0.9833	9	0.33940	T	0.23	0.9468	0.2204	0.00167	0.2449:0.1628:0.2614:0.331	.	14;14	B4DZ42;Q8NEE8	.;TTC16_HUMAN	S	14	ENSP00000362386:G14S	ENSP00000362386:G14S	G	+	1	0	TTC16	129518965	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.178000	0.09782	-0.639000	0.05502	-0.521000	0.04368	GGC		0.602	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1		NM_144965		7	43	0	0	0	0.00308	0	7	43		
COL5A1	1289	broad.mit.edu	37	9	137655583	137655583	+	Splice_Site	SNP	C	C	T	rs373100663		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:137655583C>T	ENST00000371817.3	+	20	2448	c.2034C>T	c.(2032-2034)ccC>ccT	p.P678P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	678	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGGGAGCCCGTAAGTCTGT	0.587																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2032-2034)CCC>CCT		alpha 1 type V collagen preproprotein		C		0,4406		0,0,2203	78.0	78.0	78.0		2034	-7.8	0.2	9		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		678/1839	137655583	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137655583C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2034+1C>T	9.37:g.137655583C>T							p.P678P	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	20	2416	+		Myeloproliferative disorder(178;0.0341)	678			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.2034C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093	Silent	8	78	0	0	0	0.00308	0	8	78		
ZBED1	9189	broad.mit.edu	37	X	2407457	2407457	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:2407457T>C	ENST00000381223.4	-	2	1507	c.1304A>G	c.(1303-1305)aAc>aGc	p.N435S	ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.N435S|ZBED1_ENST00000381218.3_Missense_Mutation_p.N435S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	435					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTTGATGTTGAGCGTGGT	0.587																																						uc004cqg.2		NaN																	0					0						c.(1303-1305)AAC>AGC		zinc finger, BED-type containing 1							181.0	156.0	165.0					X																	2407457		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407457T>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1304A>G	X.37:g.2407457T>C	ENSP00000370621:p.Asn435Ser					DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.N435S	p.N435S	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	1505	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	435					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1304A>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.602891	0.00123	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23950	1.88;1.88;1.88	3.06	-2.53	0.06326	Ribonuclease H-like (1);	0.948834	0.08667	N	0.911475	T	0.11324	0.0276	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39840	-0.9594	9	0.09843	T	0.71	-29.2273	8.1316	0.31031	0.0:0.413:0.0:0.587	.	435	O96006	ZBED1_HUMAN	S	435	ENSP00000370621:N435S;ENSP00000370620:N435S;ENSP00000370616:N435S	ENSP00000370616:N435S	N	-	2	0	ZBED1	2417457	0.973000	0.33851	0.000000	0.03702	0.015000	0.08874	0.628000	0.24522	-0.824000	0.04295	-0.483000	0.04790	AAC		0.587	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3		NM_004729		13	88	0	0	0	0.016723	0	13	88		
MAGIX	79917	broad.mit.edu	37	X	49022469	49022469	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:49022469C>G	ENST00000412696.2	+	6	736	c.736C>G	c.(736-738)Cgc>Ggc	p.R246G	MAGIX_ENST00000425661.2_Missense_Mutation_p.R170G|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.R182G|MAGIX_ENST00000376338.3_Missense_Mutation_p.R187G	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	246																	AACGGGGTCTCGCAGCAGCAG	0.637																																						uc010nin.1		NaN																	0					0						c.(736-738)CGC>GGC		MAGI family member, X-linked isoform a							51.0	57.0	55.0					X																	49022469		2137	4222	6359	SO:0001583	missense	79917							g.chrX:49022469C>G	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.736C>G	X.37:g.49022469C>G	ENSP00000387928:p.Arg246Gly					MAGIX_uc010nio.1_Missense_Mutation_p.R170G|MAGIX_uc004dmt.2_Missense_Mutation_p.R165G|MAGIX_uc004dmu.2_Missense_Mutation_p.R187G|MAGIX_uc004dmw.2_Missense_Mutation_p.R174G	p.R246G	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			6	783	+			246					A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.736C>G	CCDS48106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.13|14.13	2.444155|2.444155	0.43429|0.43429	.|.	.|.	ENSG00000017621|ENSG00000017621	ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342|ENST00000458388	T;T;T;T;T;T|T	0.36878|0.26810	1.78;1.92;1.71;1.62;1.48;1.23|1.71	3.86|3.86	-0.925|-0.925	0.10458|0.10458	.|.	0.725602|.	0.11350|.	N|.	0.573038|.	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D;P;P;D;P|.	0.61697|.	0.99;0.906;0.949;0.979;0.906|.	P;B;P;P;B|.	0.58454|.	0.839;0.334;0.653;0.736;0.334|.	T|T	0.32268|0.32268	-0.9913|-0.9913	10|6	0.41790|.	T|.	0.15|.	-0.0078|-0.0078	3.7291|3.7291	0.08485|0.08485	0.0:0.3043:0.3998:0.2959|0.0:0.3043:0.3998:0.2959	.|.	170;246;182;187;113|.	F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123|.	.;MAGIX_HUMAN;.;.;.|.	G|W	182;170;246;187;187;113|170	ENSP00000365517:R182G;ENSP00000403515:R170G;ENSP00000387928:R246G;ENSP00000365516:R187G;ENSP00000411713:R187G;ENSP00000400147:R113G|ENSP00000405887:S170W	ENSP00000365516:R187G|.	R|S	+|+	1|2	0|0	MAGIX|MAGIX	48909413|48909413	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.090000|0.090000	0.18270|0.18270	-0.170000|-0.170000	0.09897|0.09897	-0.092000|-0.092000	0.12417|0.12417	-0.332000|-0.332000	0.08345|0.08345	CGC|TCG		0.637	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1		NM_024859		5	34	0	0	0	0.014758	0	5	34		
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						uc001ezw.3		NaN																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5701-5706)CACAGCfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					uc001ezv.2_Intron	p.H1901fs	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5776_5777	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901_1902					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		7	468	NaN	NaN	NaN	NaN	NaN	7	468	---	---
