#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRKCZ	5590	broad.mit.edu	37	1	1991000	1991000	+	IGR	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:1991000C>A								RP11-547D24.3 (9491 upstream) : PRKCZ (13900 downstream)																							CACCCCTGAGCAGCCTGGCCT	0.592																																						uc001aiq.2		NA																	0				central_nervous_system(4)|large_intestine(2)	6						c.(304-306)CAG>AAG		protein kinase C, zeta isoform 1							78.0	67.0	71.0					1																	1991000		2203	4300	6503	SO:0001628	intergenic_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:1991000C>A																													1.37:g.1991000C>A							p.Q102K	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	4	465	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	102			Interaction with SQSTM1 (By similarity).			Missense_Mutation	SNP		37	c.304C>A		.	.	.	.	.	.	.	.	.	.	C	0.336	-0.953457	0.02285	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000503297	T;D;T	0.87256	-0.21;-2.23;1.67	4.93	1.32	0.21799	.	0.365080	0.25022	N	0.033755	T	0.71213	0.3313	N	0.21448	0.665	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58747	-0.7582	10	0.05525	T	0.97	.	6.9826	0.24711	0.2094:0.4255:0.3652:0.0	.	102	Q05513	KPCZ_HUMAN	K	102;72;56	ENSP00000367830:Q102K;ENSP00000424945:Q72K;ENSP00000421587:Q56K	ENSP00000367830:Q102K	Q	+	1	0	PRKCZ	1980860	1.000000	0.71417	0.995000	0.50966	0.051000	0.14879	0.599000	0.24089	0.561000	0.29186	0.491000	0.48974	CAG	0	0.592									6	26	1	0	1.07e-07	1.44e-07	6	26				
DNAJC11	55735	broad.mit.edu	37	1	6697514	6697514	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:6697514G>A	ENST00000377577.5	-	13	1497	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	DNAJC11_ENST00000542246.1_Silent_p.S420S|DNAJC11_ENST00000377573.5_Silent_p.S368S|DNAJC11_ENST00000294401.7_Silent_p.S406S|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	458						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCATTCTGGACTCTTCTG	0.582																																						uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(1372-1374)TCC>TCT		DnaJ (Hsp40) homolog, subfamily C, member 11							151.0	145.0	147.0					1																	6697514		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697514G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1374C>T	1.37:g.6697514G>A						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.S406S|DNAJC11_uc010nzu.1_Silent_p.S368S	p.S458S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	13	1480	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	458					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1374C>T	CCDS87.1																																																																																				0.582	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		96	67	0	0	0	0	96	67				
ANKRD13C	81573	broad.mit.edu	37	1	70819809	70819809	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:70819809G>A	ENST00000370944.4	-	1	596	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	HHLA3_ENST00000359875.5_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.L95L|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTGCCGGCCAGAAGGGCCGGG	0.672																																						uc001dex.3		NA																	0					0						c.(283-285)CTG>TTG		ankyrin repeat domain 13C							39.0	51.0	47.0					1																	70819809		2203	4299	6502	SO:0001819	synonymous_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819809G>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.283C>T	1.37:g.70819809G>A						ANKRD13C_uc009wbk.2_Silent_p.L95L|ANKRD13C_uc001dey.3_Silent_p.L95L|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	p.L95L	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			1	609	-			95					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	c.283C>T	CCDS648.2																																																																																				0.672	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		45	17	0	0	0	0	45	17				
ELTD1	64123	broad.mit.edu	37	1	79412073	79412073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:79412073C>T	ENST00000370742.3	-	3	274	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	71	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323																																						uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(211-213)GAA>AAA		EGF, latrophilin and seven transmembrane domain							80.0	74.0	76.0					1																	79412073		1882	4110	5992	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79412073C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.211G>A	1.37:g.79412073C>T	ENSP00000359778:p.Glu71Lys						p.E71K	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	3	367	-			71			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.211G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079928	0.76528	.	.	ENSG00000162618	ENST00000370742	D	0.92048	-2.96	4.94	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.441611	0.26126	N	0.026190	T	0.80889	0.4710	N	0.17345	0.48	0.40881	D	0.983991	D	0.58970	0.984	B	0.41571	0.36	T	0.82099	-0.0625	9	.	.	.	.	18.1566	0.89693	0.0:1.0:0.0:0.0	.	71	Q9HBW9	ELTD1_HUMAN	K	71	ENSP00000359778:E71K	.	E	-	1	0	ELTD1	79184661	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.061000	0.57485	2.276000	0.75962	0.585000	0.79938	GAA		0.323	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		18	11	0	0	0	0	18	11				
GBP7	388646	broad.mit.edu	37	1	89613381	89613381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:89613381G>A	ENST00000294671.2	-	8	1372	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	412						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTGAAAGCCGCTTAAGCTCA	0.438																																						uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(1234-1236)CGG>TGG		guanylate binding protein 4-like							163.0	164.0	163.0					1																	89613381		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613381G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1234C>T	1.37:g.89613381G>A	ENSP00000294671:p.Arg412Trp					GBP2_uc001dmy.1_RNA	p.R412W	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1373	-		Lung NSC(277;0.0908)	412						Missense_Mutation	SNP	ENST00000294671.2	37	c.1234C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404550	0.42613	.	.	ENSG00000213512	ENST00000294671	T	0.56444	0.46	3.95	-2.58	0.06228	Guanylate-binding protein, C-terminal (3);	1.356020	0.04755	N	0.425171	T	0.40015	0.1100	M	0.77820	2.39	0.09310	N	1	D	0.54772	0.968	P	0.48488	0.579	T	0.37842	-0.9688	10	0.72032	D	0.01	.	4.7965	0.13276	0.2109:0.0:0.193:0.596	.	412	Q8N8V2	GBP7_HUMAN	W	412	ENSP00000294671:R412W	ENSP00000294671:R412W	R	-	1	2	GBP7	89385969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.277000	0.08502	-0.325000	0.08577	-0.218000	0.12543	CGG		0.438	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		137	58	0	0	0	0	137	58				
OLFM3	118427	broad.mit.edu	37	1	102312416	102312416	+	Silent	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:102312416C>A	ENST00000338858.5	-	1	113	c.114G>T	c.(112-114)tcG>tcT	p.S38S	OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Silent_p.S38S|OLFM3_ENST00000370103.4_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	38					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TATCCGGAGTCGACAGCCTCG	0.473																																						uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(112-114)TCG>TCT		olfactomedin 3							130.0	115.0	119.0					1																	102312416		876	1991	2867	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102312416C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.114G>T	1.37:g.102312416C>A						OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	p.S38S	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	1	185	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	38					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.114G>T																																																																																					0.473	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			10	54	1	0	9.7e-10	1.32e-09	10	54				
KCNA2	3737	broad.mit.edu	37	1	111146468	111146468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:111146468C>A	ENST00000485317.1	-	3	1610	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G313C|KCNA2_ENST00000440270.1_Missense_Mutation_p.G313C|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	313					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ATCTGGAGACCTTTGGAGTGT	0.502																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(937-939)GGT>TGT		potassium voltage-gated channel, shaker-related							79.0	84.0	82.0					1																	111146468		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146468C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.937G>T	1.37:g.111146468C>A	ENSP00000433109:p.Gly313Cys					KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.G313C	p.G313C	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1433	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	313					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.937G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666100	0.67700	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98550	-4.99;-4.99;-4.99	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	313	P16389	KCNA2_HUMAN	C	313	ENSP00000433109:G313C;ENSP00000415257:G313C;ENSP00000314520:G313C	ENSP00000314520:G313C	G	-	1	0	KCNA2	110947991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	GGT		0.502	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		21	71	1	0	7.42e-09	1.01e-08	21	71				
NBPF10	100132406	broad.mit.edu	37	1	145368630	145368630	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:145368630G>A	ENST00000369339.3	+	17	2215	c.1962G>A	c.(1960-1962)ttG>ttA	p.L654L	NBPF10_ENST00000369338.1_Silent_p.L652L|NBPF10_ENST00000342960.5_Silent_p.L3536L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	0	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTTACTTTGACGGTGACAA	0.463																																						uc001end.3		NA																	0					0						c.(10831-10833)TTG>TTA		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368630G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1962G>A	1.37:g.145368630G>A						NBPF9_uc010oye.1_Silent_p.L895L|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.L464L|NBPF10_uc010oyk.1_Silent_p.L252L|NBPF10_uc010oyl.1_Silent_p.L252L	p.L3611L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	86	10868	+	all_hematologic(923;0.032)		3536					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10833G>A																																																																																					0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		44	311	0	0	0	0	44	311				
CRNN	49860	broad.mit.edu	37	1	152383333	152383333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:152383333C>T	ENST00000271835.3	-	3	287	c.225G>A	c.(223-225)ctG>ctA	p.L75L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	75	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTAAGACCAGGAATTCCT	0.542																																						uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(223-225)CTG>CTA		cornulin							62.0	68.0	66.0					1																	152383333		2202	4299	6501	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383333C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.225G>A	1.37:g.152383333C>T							p.L75L	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	299	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		75			EF-hand.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.225G>A	CCDS1010.1																																																																																				0.542	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		30	53	0	0	0	0	30	53				
LAMC1	3915	broad.mit.edu	37	1	183086740	183086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:183086740G>C	ENST00000258341.4	+	10	2016	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	587	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GGACAGGCGAGATACTCGCCT	0.507																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1759-1761)GAT>CAT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134.0	122.0	126.0					1																	183086740		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086740G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1759G>C	1.37:g.183086740G>C	ENSP00000258341:p.Asp587His						p.D587H	NM_002293	NP_002284	P11047	LAMC1_HUMAN			10	2016	+			587			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1759G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557351	0.86231	.	.	ENSG00000135862	ENST00000258341	T	0.40756	1.02	5.29	5.29	0.74685	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66606	-0.5881	10	0.51188	T	0.08	.	18.9393	0.92598	0.0:0.0:1.0:0.0	.	587	P11047	LAMC1_HUMAN	H	587	ENSP00000258341:D587H	ENSP00000258341:D587H	D	+	1	0	LAMC1	181353363	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.321000	0.79088	2.463000	0.83235	0.655000	0.94253	GAT		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		67	43	0	0	0	0	67	43				
BRINP3	339479	broad.mit.edu	37	1	190068199	190068199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:190068199C>T	ENST00000367462.3	-	8	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	BRINP3_ENST00000534846.1_Missense_Mutation_p.G315D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	417					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGAAAAGCTGCCTAGGAGGCC	0.517																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1249-1251)GGC>GAC		family with sequence similarity 5, member C							46.0	38.0	41.0					1																	190068199		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068199C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1250G>A	1.37:g.190068199C>T	ENSP00000356432:p.Gly417Asp					FAM5C_uc010pot.1_Missense_Mutation_p.G315D	p.G417D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1482	-	Prostate(682;0.198)		417					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1250G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089585	0.76756	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;D	0.87334	-2.24;-2.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93681	0.6998	10	0.87932	D	0	.	17.2216	0.86959	0.0:1.0:0.0:0.0	.	315;417	B7Z260;Q76B58	.;FAM5C_HUMAN	D	417;315	ENSP00000356432:G417D;ENSP00000438022:G315D	ENSP00000356432:G417D	G	-	2	0	FAM5C	188334822	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.734000	0.84928	2.656000	0.90262	0.591000	0.81541	GGC		0.517	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		4	42	0	0	0	0	4	42				
ITPKB	3707	broad.mit.edu	37	1	226923395	226923395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:226923395G>A	ENST00000272117.3	-	1	1764	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	ITPKB_ENST00000366784.1_Missense_Mutation_p.P589S|ITPKB_ENST00000429204.1_Missense_Mutation_p.P589S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	589					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTGCCCCGAGGGCTTCCCTGC	0.597																																					Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1765-1767)CCT>TCT		1D-myo-inositol-trisphosphate 3-kinase B							54.0	49.0	51.0					1																	226923395		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923395G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1765C>T	1.37:g.226923395G>A	ENSP00000272117:p.Pro589Ser					ITPKB_uc001hqh.2_Missense_Mutation_p.P589S	p.P589S	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	2105	-		Prostate(94;0.0773)	589					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1765C>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770212	0.49680	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.40225	1.66;1.66;1.04	5.68	4.76	0.60689	.	0.228499	0.39083	N	0.001475	T	0.44265	0.1285	L	0.27053	0.805	0.44834	D	0.997844	D	0.62365	0.991	P	0.54210	0.745	T	0.47873	-0.9083	10	0.72032	D	0.01	-6.7322	14.806	0.69956	0.0693:0.0:0.9307:0.0	.	589	P27987	IP3KB_HUMAN	S	589	ENSP00000272117:P589S;ENSP00000411152:P589S;ENSP00000355748:P589S	ENSP00000272117:P589S	P	-	1	0	ITPKB	224990018	1.000000	0.71417	0.980000	0.43619	0.389000	0.30415	7.779000	0.85648	1.537000	0.49254	0.591000	0.81541	CCT		0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		11	35	0	0	0	0	11	35				
ERCC6	2074	broad.mit.edu	37	10	50678260	50678260	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:50678260T>A	ENST00000355832.5	-	18	3824	c.3746A>T	c.(3745-3747)gAt>gTt	p.D1249V	ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.D619V	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1249					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						CAAAACATAATCGTCATTGCT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3745-3747)GAT>GTT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							313.0	297.0	303.0					10																	50678260		2203	4300	6503	SO:0001583	missense	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.chr10:50678260T>A	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.3746A>T	10.37:g.50678260T>A	ENSP00000348089:p.Asp1249Val					ERCC6_uc009xod.2_Missense_Mutation_p.D409V|ERCC6_uc010qgr.1_Missense_Mutation_p.D619V|ERCC6_uc001jhr.3_Missense_Mutation_p.D617V	p.D1249V	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			18	3900	-			1249					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3746A>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678454	0.88542	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.85861	-2.04;-1.78	5.56	5.56	0.83823	.	.	.	.	.	D	0.93038	0.7784	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.971	D	0.94117	0.7376	9	0.72032	D	0.01	-22.0299	15.7032	0.77558	0.0:0.0:0.0:1.0	.	1249;626	Q03468;Q59FF6	ERCC6_HUMAN;.	V	1249;626;619	ENSP00000348089:D1249V;ENSP00000445134:D619V	ENSP00000348089:D1249V	D	-	2	0	ERCC6	50348266	1.000000	0.71417	0.776000	0.31678	0.978000	0.69477	7.884000	0.87274	2.118000	0.64928	0.482000	0.46254	GAT		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		113	89	0	0	0	0	113	89				
UNC5B	219699	broad.mit.edu	37	10	73050851	73050851	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:73050851A>C	ENST00000335350.6	+	9	1695	c.1279A>C	c.(1279-1281)Aag>Cag	p.K427Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.K416Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	427					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGTCAACTTTAAGACGGCAAG	0.607																																						uc001jro.2		NA																	0				ovary(2)|lung(1)	3						c.(1279-1281)AAG>CAG		unc-5 homolog B precursor							183.0	176.0	178.0					10																	73050851		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050851A>C	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1279A>C	10.37:g.73050851A>C	ENSP00000334329:p.Lys427Gln					UNC5B_uc001jrp.2_Missense_Mutation_p.K416Q	p.K427Q	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			9	1724	+			427			Cytoplasmic (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1279A>C	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817470	0.50633	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.57752	0.38;0.38	5.39	2.97	0.34412	.	0.098954	0.64402	D	0.000002	T	0.71056	0.3295	M	0.83774	2.66	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69745	-0.5062	10	0.46703	T	0.11	-31.6387	10.6033	0.45379	0.7432:0.0:0.0:0.2568	.	416;427	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	Q	427;416	ENSP00000334329:K427Q;ENSP00000362288:K416Q	ENSP00000334329:K427Q	K	+	1	0	UNC5B	72720857	1.000000	0.71417	0.996000	0.52242	0.091000	0.18340	7.511000	0.81718	0.318000	0.23185	0.533000	0.62120	AAG		0.607	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		19	178	0	0	0	0	19	178				
CYP2E1	1571	broad.mit.edu	37	10	135347301	135347301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135347301C>G	ENST00000463117.2	+	8	1139	c.867C>G	c.(865-867)atC>atG	p.I289M	CYP2E1_ENST00000252945.3_Missense_Mutation_p.I289M|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	289					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.I289I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGGACGGTATCACCGTGACTG	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	central_nervous_system(3)	3						c.(865-867)ATC>ATG		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						191.0	166.0	174.0					10																	135347301		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135347301C>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.867C>G	10.37:g.135347301C>G	ENSP00000440689:p.Ile289Met					CYP2E1_uc001lnk.1_Missense_Mutation_p.I152M|CYP2E1_uc009ybl.1_Missense_Mutation_p.I90M|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.I90M	p.I289M	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	900	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	289					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.867C>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867337	0.17250	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	3.96	-7.91	0.01165	.	0.789321	0.12031	N	0.505977	T	0.62527	0.2435	N	0.21097	0.63	0.09310	N	1	B;P	0.37914	0.038;0.611	B;P	0.52909	0.094;0.713	T	0.68985	-0.5265	10	0.59425	D	0.04	.	8.1863	0.31341	0.0:0.3622:0.3953:0.2425	.	185;289	Q59EW1;P05181	.;CP2E1_HUMAN	M	289;289;202;152	ENSP00000440689:I289M;ENSP00000252945:I289M;ENSP00000412754:I202M;ENSP00000397299:I152M	ENSP00000252945:I289M	I	+	3	3	CYP2E1	135197291	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.647000	0.01997	-2.461000	0.00536	-0.206000	0.12725	ATC		0.527	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		29	130	0	0	0	0	29	130				
FRG2B	441581	broad.mit.edu	37	10	135438868	135438868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135438868G>A	ENST00000425520.1	-	4	624	c.572C>T	c.(571-573)gCc>gTc	p.A191V	FRG2B_ENST00000443774.1_Missense_Mutation_p.A192V	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCACACCTGGGCTAGGTCTTG	0.572																																						uc010qvg.1		NA																	0					0						c.(571-573)GCC>GTC		FSHD region gene 2 family, member B							53.0	64.0	60.0					10																	135438868		2168	4278	6446	SO:0001583	missense	441581					nucleus		g.chr10:135438868G>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.572C>T	10.37:g.135438868G>A	ENSP00000401310:p.Ala191Val						p.A191V	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	625	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	191					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.572C>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	8.960	0.970242	0.18659	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.38887	1.11;1.11	.	.	.	.	0.997386	0.08115	N	0.995587	T	0.32763	0.0840	N	0.05124	-0.11	0.09310	N	0.999996	D	0.60575	0.988	D	0.70935	0.971	T	0.24728	-1.0152	8	0.05525	T	0.97	-5.5364	.	.	.	.	191	Q96QU4	FRG2B_HUMAN	V	192;191	ENSP00000408343:A192V;ENSP00000401310:A191V	ENSP00000401310:A191V	A	-	2	0	FRG2B	135288858	0.093000	0.21703	0.563000	0.28383	0.567000	0.35839	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	GCC		0.572	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		10	101	0	0	0	0	10	101				
PDHX	8050	broad.mit.edu	37	11	34988327	34988327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:34988327C>T	ENST00000227868.4	+	6	866	c.782C>T	c.(781-783)cCa>cTa	p.P261L	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.P246L			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	261					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCTGTGATCCCACCAGTATCA	0.488																																						uc001mvt.2		NA																	0				kidney(1)	1						c.(781-783)CCA>CTA		pyruvate dehydrogenase complex, component X							105.0	99.0	101.0					11																	34988327		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34988327C>T	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.782C>T	11.37:g.34988327C>T	ENSP00000227868:p.Pro261Leu					PDHX_uc010rep.1_Missense_Mutation_p.P246L|PDHX_uc010req.1_Intron	p.P261L	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		6	1308	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	261					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.782C>T	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980879	0.53827	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.25749	2.37;1.78	5.54	5.54	0.83059	.	0.101639	0.64402	D	0.000002	T	0.20618	0.0496	N	0.24115	0.695	0.80722	D	1	P;B	0.36616	0.561;0.008	B;B	0.36289	0.221;0.011	T	0.02766	-1.1113	10	0.46703	T	0.11	-3.3755	16.4026	0.83647	0.0:1.0:0.0:0.0	.	246;261	E9PB14;O00330	.;ODPX_HUMAN	L	246;261	ENSP00000389404:P246L;ENSP00000227868:P261L	ENSP00000227868:P261L	P	+	2	0	PDHX	34944903	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	3.118000	0.50414	2.649000	0.89929	0.551000	0.68910	CCA		0.488	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		24	41	0	0	0	0	24	41				
OR4C46	119749	broad.mit.edu	37	11	51516007	51516007	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:51516007C>T	ENST00000328188.1	+	1	726	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTCCCACATCACGGTTGTCA	0.468																																						uc010ric.1		NA																	0				ovary(1)	1						c.(724-726)ATC>ATT		olfactory receptor, family 4, subfamily C,							134.0	113.0	120.0					11																	51516007		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516007C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.726C>T	11.37:g.51516007C>T							p.I242I	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	726	+			242			Helical; Name=6; (Potential).			Silent	SNP	ENST00000328188.1	37	c.726C>T	CCDS31498.1																																																																																				0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		23	45	0	0	0	0	23	45				
FKBP2	2286	broad.mit.edu	37	11	64009862	64009862	+	Start_Codon_SNP	SNP	G	G	T	rs377764609		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64009862G>T	ENST00000394540.3	+	2	473	c.3G>T	c.(1-3)atG>atT	p.M1I	FKBP2_ENST00000449942.2_Start_Codon_SNP_p.M1I|FKBP2_ENST00000309366.4_Start_Codon_SNP_p.M1I	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	1					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						ACAGAGACATGAGGCTGAGCT	0.647																																						uc001nyy.2		NA																	0					0						c.(1-3)ATG>ATT		FK506 binding protein 2, 13kDa precursor							84.0	69.0	74.0					11																	64009862		2201	4297	6498	SO:0001582	initiator_codon_variant	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64009862G>T	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.3G>T	11.37:g.64009862G>T	ENSP00000378046:p.Met1Ile					FKBP2_uc010rnh.1_Missense_Mutation_p.M1I|FKBP2_uc001nyz.2_Missense_Mutation_p.M1I	p.M1I	NM_004470	NP_004461	P26885	FKBP2_HUMAN			2	199	+			1					Q5BJH9|Q9BTS7	Missense_Mutation	SNP	ENST00000394540.3	37	c.3G>T	CCDS8063.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493566	0.84962	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000535135;ENST00000394540	T;T;T;T	0.34859	1.35;1.35;1.34;1.35	3.74	3.74	0.42951	.	0.411149	0.23211	N	0.050669	T	0.29976	0.0750	.	.	.	0.80722	D	1	B	0.34241	0.444	B	0.30029	0.11	T	0.30119	-0.9989	9	0.72032	D	0.01	-16.5988	12.9343	0.58305	0.0:0.0:1.0:0.0	.	1	P26885	FKBP2_HUMAN	I	1	ENSP00000310935:M1I;ENSP00000398147:M1I;ENSP00000438749:M1I;ENSP00000378046:M1I	ENSP00000310935:M1I	M	+	3	0	FKBP2	63766438	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.356000	0.59430	2.107000	0.64212	0.462000	0.41574	ATG		0.647	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2	NM_004470	Missense_Mutation	14	104	1	0	3.46e-05	4.56e-05	14	104				
FKBP2	2286	broad.mit.edu	37	11	64011493	64011493	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64011493G>C	ENST00000394540.3	+	6	891	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	FKBP2_ENST00000449942.2_Missense_Mutation_p.E141Q|FKBP2_ENST00000309366.4_Missense_Mutation_p.E141Q|RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000544553.1_RNA	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	141					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						GCGACGAACTGAGCTGTAACC	0.517																																						uc001nyy.2		NA																	0					0						c.(421-423)GAG>CAG		FK506 binding protein 2, 13kDa precursor							68.0	71.0	70.0					11																	64011493		2201	4297	6498	SO:0001583	missense	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64011493G>C	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.421G>C	11.37:g.64011493G>C	ENSP00000378046:p.Glu141Gln					FKBP2_uc010rnh.1_Missense_Mutation_p.E141Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E141Q	p.E141Q	NM_004470	NP_004461	P26885	FKBP2_HUMAN			6	617	+			141			Prevents secretion from ER (Potential).		Q5BJH9|Q9BTS7	Missense_Mutation	SNP	ENST00000394540.3	37	c.421G>C	CCDS8063.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185584	0.57909	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000394540	T;T;T	0.38560	1.13;1.13;1.13	4.13	4.13	0.48395	.	0.073981	0.52532	D	0.000074	T	0.61689	0.2367	M	0.88775	2.98	0.50039	D	0.999841	D	0.56968	0.978	P	0.52424	0.698	T	0.73132	-0.4079	10	0.66056	D	0.02	-15.5694	15.5722	0.76349	0.0:0.0:1.0:0.0	.	141	P26885	FKBP2_HUMAN	Q	141	ENSP00000310935:E141Q;ENSP00000398147:E141Q;ENSP00000378046:E141Q	ENSP00000310935:E141Q	E	+	1	0	FKBP2	63768069	1.000000	0.71417	0.997000	0.53966	0.252000	0.25951	6.746000	0.74866	2.019000	0.59389	0.462000	0.41574	GAG		0.517	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2	NM_004470		16	136	0	0	0	0	16	136				
NRXN2	9379	broad.mit.edu	37	11	64390422	64390422	+	Missense_Mutation	SNP	C	C	T	rs372438021		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64390422C>T	ENST00000377551.1	-	20	4187	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E1256K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E280K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E1326K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1319K			Q9P2S2	NRX2A_HUMAN	neurexin 2	1326	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTCGCTCTCGGCGGCCAGC	0.706																																						uc001oap.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(838-840)GAG>AAG		neurexin 2 isoform beta precursor		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4398		0,0,2199	28.0	27.0	27.0		3976,3766,838	4.1	1.0	11		27	1,8589		0,1,4294	no	missense,missense,missense	NRXN2	NM_015080.3,NM_138732.2,NM_138734.2	56,56,56	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1326/1713,1256/1643,280/667	64390422	1,12987	2199	4295	6494	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64390422C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3976G>A	11.37:g.64390422C>T	ENSP00000366774:p.Glu1326Lys					NRXN2_uc001oar.2_Missense_Mutation_p.E1326K|NRXN2_uc001oas.2_Missense_Mutation_p.E1256K|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.E993K	p.E280K	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1349	-			280			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.838G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892974	0.91889	0.0	1.16E-4	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.66815	0.98;-0.19;-0.23;-0.19;-0.09;0.98	4.08	4.08	0.47627	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (2);	0.000000	0.43110	U	0.000602	T	0.78355	0.4270	M	0.66378	2.025	0.80722	D	1	D;P;D;B	0.71674	0.997;0.656;0.998;0.099	D;B;D;B	0.67900	0.924;0.122;0.954;0.03	T	0.81395	-0.0952	10	0.87932	D	0	.	14.1923	0.65646	0.0:1.0:0.0:0.0	.	1256;1326;1072;280	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	K	280;1326;1256;1326;1256;1319;211	ENSP00000301894:E280K;ENSP00000366774:E1326K;ENSP00000366782:E1256K;ENSP00000265459:E1326K;ENSP00000386416:E1319K;ENSP00000407374:E211K	ENSP00000265459:E1326K	E	-	1	0	NRXN2	64146998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.921000	0.70028	2.274000	0.75844	0.561000	0.74099	GAG		0.706	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		19	5	0	0	0	0	19	5				
NRXN2	9379	broad.mit.edu	37	11	64457916	64457916	+	Missense_Mutation	SNP	C	C	A	rs138744105		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64457916C>A	ENST00000377551.1	-	4	1022	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Missense_Mutation_p.G271W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G271W			Q9P2S2	NRX2A_HUMAN	neurexin 2	271					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCCTCTCCCGGCCCCCCCC	0.642																																						uc001oar.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(811-813)GGG>TGG		neurexin 2 isoform alpha-1 precursor							40.0	40.0	40.0					11																	64457916		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64457916C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.811G>T	11.37:g.64457916C>A	ENSP00000366774:p.Gly271Trp					NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR	p.G271W	NM_015080	NP_055895	P58401	NRX2B_HUMAN			6	1250	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.811G>T	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.649395|3.649395	0.67358|0.67358	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000265459;ENST00000409571;ENST00000442300|ENST00000437746	T;T;T;T|.	0.61859|.	0.07;0.07;0.11;1.18|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|.	.|.	.|.	.|.	T|T	0.36991|0.36991	0.0987|0.0987	N|N	0.08118|0.08118	0|0	0.46564|0.46564	D|D	0.999108|0.999108	D|.	0.71674|.	0.998|.	P|.	0.59889|.	0.865|.	T|T	0.22977|0.22977	-1.0201|-1.0201	9|5	0.56958|.	D|.	0.05|.	.|.	13.2396|13.2396	0.59989|0.59989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	271|.	Q9P2S2|.	NRX2A_HUMAN|.	W|L	271;271;271;42|60	ENSP00000366774:G271W;ENSP00000265459:G271W;ENSP00000386416:G271W;ENSP00000388971:G42W|.	ENSP00000265459:G271W|.	G|R	-|-	1|2	0|0	NRXN2|NRXN2	64214492|64214492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.761000|3.761000	0.55242|0.55242	2.288000|2.288000	0.76882|0.76882	0.442000|0.442000	0.29010|0.29010	GGG|CGG		0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		8	47	1	0	0.000442599	0.000566632	8	47				
DHCR7	1717	broad.mit.edu	37	11	71148918	71148918	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:71148918G>A	ENST00000355527.3	-	8	1179	c.903C>T	c.(901-903)caC>caT	p.H301H	DHCR7_ENST00000407721.2_Silent_p.H301H	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	301					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACCACCCGAAGTGGTCATGGC	0.582									Smith-Lemli-Opitz syndrome																													uc001oqk.2		NA																	0				ovary(1)|liver(1)	2						c.(901-903)CAC>CAT		7-dehydrocholesterol reductase	NADH(DB00157)						101.0	94.0	96.0					11																	71148918		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71148918G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.903C>T	11.37:g.71148918G>A						DHCR7_uc001oql.2_Silent_p.H301H	p.H301H	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			8	1153	-			301					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.903C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	6.081	0.383188	0.11524	.	.	ENSG00000172893	ENST00000534795	.	.	.	4.44	3.53	0.40419	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56335	-0.7996	4	.	.	.	-47.7501	10.4519	0.44526	0.0973:0.0:0.9027:0.0	.	.	.	.	F	87	.	.	L	-	1	0	DHCR7	70826566	1.000000	0.71417	0.997000	0.53966	0.607000	0.37147	2.349000	0.44054	0.877000	0.35895	-0.362000	0.07510	CTT		0.582	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		12	93	0	0	0	0	12	93				
MMP1	4312	broad.mit.edu	37	11	102663445	102663445	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:102663445G>C	ENST00000315274.6	-	7	991	c.924C>G	c.(922-924)ttC>ttG	p.F308L	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	308					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CTTCCGGGTAGAAGGGATTTG	0.433																																						uc001phi.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(922-924)TTC>TTG		matrix metalloproteinase 1 isoform 1							109.0	109.0	109.0					11																	102663445		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663445G>C	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.924C>G	11.37:g.102663445G>C	ENSP00000322788:p.Phe308Leu					uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.F242L	p.F308L	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	7	1067	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	308			Hemopexin-like 1.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.924C>G	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	6.691	0.496137	0.12762	.	.	ENSG00000196611	ENST00000315274	T	0.02301	4.35	6.16	1.71	0.24356	Hemopexin/matrixin (2);	1.388700	0.05197	N	0.504270	T	0.02767	0.0083	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51834	-0.8655	10	0.12103	T	0.63	.	5.3815	0.16194	0.239:0.2972:0.4637:0.0	.	308	P03956	MMP1_HUMAN	L	308	ENSP00000322788:F308L	ENSP00000322788:F308L	F	-	3	2	MMP1	102168655	0.000000	0.05858	0.002000	0.10522	0.794000	0.44872	-0.415000	0.07106	0.464000	0.27142	0.650000	0.86243	TTC		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		17	41	0	0	0	0	17	41				
PPHLN1	51535	broad.mit.edu	37	12	42792759	42792759	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:42792759C>G	ENST00000395568.2	+	9	956	c.872C>G	c.(871-873)tCt>tGt	p.S291C	RNU6-249P_ENST00000363016.1_RNA|PPHLN1_ENST00000256678.8_Missense_Mutation_p.S171C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S291C|PPHLN1_ENST00000432191.2_Missense_Mutation_p.S236C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S272C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S298C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S309C|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S224C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S236C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S243C	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	291					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ACCACTCGCTCTAAAGCAATA	0.393																																						uc001rng.1		NA																	0				ovary(1)|breast(1)	2						c.(871-873)TCT>TGT		periphilin 1 isoform 1							139.0	136.0	137.0					12																	42792759		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42792759C>G	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.872C>G	12.37:g.42792759C>G	ENSP00000378935:p.Ser291Cys					PPHLN1_uc001rmy.2_Missense_Mutation_p.S309C|PPHLN1_uc001rna.2_Missense_Mutation_p.S243C|PPHLN1_uc001rne.2_Missense_Mutation_p.S279C|PPHLN1_uc001rnb.2_Missense_Mutation_p.S298C|PPHLN1_uc001rnd.2_Missense_Mutation_p.S243C|PPHLN1_uc001rnc.2_Missense_Mutation_p.S291C|PPHLN1_uc001rnf.2_Missense_Mutation_p.S272C|PPHLN1_uc010skq.1_Missense_Mutation_p.S217C|PPHLN1_uc010skr.1_Missense_Mutation_p.S236C|PPHLN1_uc010sks.1_Missense_Mutation_p.S217C|PPHLN1_uc010skt.1_Missense_Mutation_p.S171C|PPHLN1_uc001rni.1_Missense_Mutation_p.S236C|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.S224C|PPHLN1_uc001rnj.2_Missense_Mutation_p.S107C	p.S291C	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	9	977	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	291					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.872C>G	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286587	0.59867	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.17	6.17	0.99709	.	0.129286	0.52532	D	0.000065	T	0.70072	0.3182	M	0.65975	2.015	0.47698	D	0.99949	B;B;P;B;P;B;B;B;B;B;B;B;B;B	0.35844	0.041;0.311;0.501;0.044;0.524;0.102;0.103;0.213;0.029;0.029;0.089;0.029;0.089;0.024	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43680	0.066;0.187;0.427;0.075;0.376;0.079;0.134;0.286;0.094;0.089;0.114;0.114;0.16;0.069	T	0.70887	-0.4750	9	0.87932	D	0	-5.8916	17.7962	0.88572	0.0:1.0:0.0:0.0	.	224;171;217;236;224;107;236;291;272;291;243;298;243;309	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-7;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	C	309;298;236;291;291;171;272;243;224;236	.	ENSP00000256678:S171C	S	+	2	0	PPHLN1	41079026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.148000	0.50647	2.941000	0.99782	0.655000	0.94253	TCT		0.393	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		21	43	0	0	0	0	21	43				
NELL2	4753	broad.mit.edu	37	12	44913891	44913891	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:44913891C>G	ENST00000429094.2	-	19	2801	c.2297G>C	c.(2296-2298)cGc>cCc	p.R766P	NELL2_ENST00000437801.2_Missense_Mutation_p.R816P|NELL2_ENST00000549027.1_Missense_Mutation_p.R765P|NELL2_ENST00000395487.2_Missense_Mutation_p.R765P|NELL2_ENST00000452445.2_Missense_Mutation_p.R766P|NELL2_ENST00000333837.4_Missense_Mutation_p.R789P|NELL2_ENST00000551601.1_Missense_Mutation_p.R718P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	766						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATGTCATTGCGGATGGTGTC	0.552																																						uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2296-2298)CGC>CCC		NEL-like protein 2 isoform b precursor							120.0	100.0	107.0					12																	44913891		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913891C>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2297G>C	12.37:g.44913891C>G	ENSP00000390680:p.Arg766Pro					NELL2_uc001rof.3_Missense_Mutation_p.R765P|NELL2_uc001roh.2_Missense_Mutation_p.R766P|NELL2_uc009zkd.2_Missense_Mutation_p.R718P|NELL2_uc010skz.1_Missense_Mutation_p.R816P|NELL2_uc010sla.1_Missense_Mutation_p.R789P	p.R766P	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2892	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	766			VWFC 5.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2297G>C	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158488	0.57368	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;D;D	0.82619	-1.58;-1.56;-1.27;-1.56;-1.58;-1.52;-1.63	5.21	4.11	0.48088	.	0.053759	0.85682	D	0.000000	D	0.86377	0.5918	L	0.50919	1.6	0.53005	D	0.999967	B;B;D;D;B	0.65815	0.002;0.002;0.995;0.992;0.001	B;B;P;P;B	0.62740	0.002;0.006;0.906;0.72;0.004	D	0.84325	0.0518	10	0.30078	T	0.28	-21.4072	14.6372	0.68699	0.0:0.9174:0.0:0.0826	.	789;816;718;766;765	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	P	765;766;718;766;765;789;816	ENSP00000378866:R765P;ENSP00000390680:R766P;ENSP00000449332:R718P;ENSP00000394612:R766P;ENSP00000447927:R765P;ENSP00000327988:R789P;ENSP00000416341:R816P	ENSP00000327988:R789P	R	-	2	0	NELL2	43200158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.678000	0.46900	2.413000	0.81919	0.650000	0.86243	CGC		0.552	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		10	74	0	0	0	0	10	74				
KRT5	3852	broad.mit.edu	37	12	52912854	52912854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:52912854C>A	ENST00000252242.4	-	2	1036	c.646G>T	c.(646-648)Gag>Tag	p.E216*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	216	Linker 1.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AACAACGGCTCCAGGTTCTGC	0.602																																						uc001san.2		NA																	0					0						c.(646-648)GAG>TAG		keratin 5							103.0	98.0	99.0					12																	52912854		2203	4296	6499	SO:0001587	stop_gained	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912854C>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.646G>T	12.37:g.52912854C>A	ENSP00000252242:p.Glu216*					KRT5_uc009zmh.2_Nonsense_Mutation_p.E216*	p.E216*	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	809	-			216			Rod.|Linker 1.		Q6PI71|Q6UBJ0|Q8TA91	Nonsense_Mutation	SNP	ENST00000252242.4	37	c.646G>T	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.352969|9.352969	0.99145|0.99145	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420|ENST00000551188	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.238530|.	0.29775|.	N|.	0.011237|.	.|T	.|0.75280	.|0.3828	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73177	.|-0.4065	.|3	0.87932|.	D|.	0|.	.|.	19.1738|19.1738	0.93594|0.93594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	216;181;106|16	.|.	ENSP00000252242:E216X|.	E|W	-|-	1|3	0|0	KRT5|KRT5	51199121|51199121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.933000|5.933000	0.70130|0.70130	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			43	77	1	0	4.16e-14	5.77e-14	43	77				
ITGA7	3679	broad.mit.edu	37	12	56087845	56087845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:56087845G>A	ENST00000555728.1	-	20	2655	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	ITGA7_ENST00000553804.1_Missense_Mutation_p.S836F|ITGA7_ENST00000257880.7_Missense_Mutation_p.S876F|ITGA7_ENST00000394230.2_Missense_Mutation_p.S836F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S739F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S832F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S832F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S826F			Q13683	ITA7_HUMAN	integrin, alpha 7	876					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCCGCTCAGACTGCATGGC	0.592																																						uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2506-2508)TCT>TTT		integrin alpha 7 isoform 1 precursor							201.0	125.0	151.0					12																	56087845		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56087845G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2627C>T	12.37:g.56087845G>A	ENSP00000452387:p.Ser876Phe					ITGA7_uc001shg.2_Missense_Mutation_p.S832F|ITGA7_uc010sps.1_Missense_Mutation_p.S739F|ITGA7_uc009znw.2_Missense_Mutation_p.S79F|ITGA7_uc009znx.2_Missense_Mutation_p.S713F	p.S836F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			19	2727	-			876			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2507C>T		.	.	.	.	.	.	.	.	.	.	G	12.63	1.996656	0.35226	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.1	4.17	0.49024	Integrin alpha-2 (1);	0.348022	0.27981	N	0.017061	T	0.46229	0.1382	L	0.54323	1.7	0.39031	D	0.95994	B;B;B;B	0.19445	0.002;0.006;0.025;0.036	B;B;B;B	0.32724	0.012;0.072;0.087;0.151	T	0.47995	-0.9073	10	0.49607	T	0.09	.	10.3397	0.43870	0.1046:0.0:0.8954:0.0	.	739;876;836;895	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	F	836;832;826;739;876;836;832;705;876	ENSP00000452120:S836F;ENSP00000257879:S832F;ENSP00000343009:S826F;ENSP00000393844:S739F;ENSP00000257880:S876F;ENSP00000377777:S836F;ENSP00000377776:S832F;ENSP00000452387:S876F	ENSP00000257879:S832F	S	-	2	0	ITGA7	54374112	0.025000	0.19082	0.967000	0.41034	0.612000	0.37316	0.901000	0.28445	1.190000	0.43042	0.467000	0.42956	TCT		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		4	21	0	0	0	0	4	21				
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:109863801C>G	ENST00000431443.2	+	17	1758	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	MYO1H_ENST00000310903.5_Missense_Mutation_p.I576M	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	586	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502																																						uc010sxn.1		NA																	0					0						c.(1726-1728)ATC>ATG		myosin 1H							70.0	69.0	69.0					12																	109863801		1972	4174	6146	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109863801C>G		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1758C>G	12.37:g.109863801C>G	ENSP00000444076:p.Ile586Met						p.I576M	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			17	1728	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.1728C>G		.	.	.	.	.	.	.	.	.	.	C	4.589	0.109439	0.08780	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87179	-2.22;-2.22	6.08	4.22	0.49857	.	.	.	.	.	T	0.48624	0.1510	N	0.00040	-2.5	0.29204	N	0.875011	B	0.13594	0.008	B	0.08055	0.003	T	0.55224	-0.8174	9	0.02654	T	1	.	8.3122	0.32077	0.0:0.6047:0.3042:0.0911	.	576	F5H3C6	.	M	576;586	ENSP00000439182:I576M;ENSP00000444076:I586M	ENSP00000439182:I576M	I	+	3	3	MYO1H	108348184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.824000	0.55723	1.571000	0.49722	0.655000	0.94253	ATC		0.502	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		12	38	0	0	0	0	12	38				
VPS33A	65082	broad.mit.edu	37	12	122723220	122723220	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:122723220C>A	ENST00000267199.4	-	10	1328	c.1216G>T	c.(1216-1218)Gtg>Ttg	p.V406L	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.V367L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	406					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGTCTTAACACCTTGATCAAC	0.343																																						uc001ucd.2		NA																	0				skin(1)	1						c.(1216-1218)GTG>TTG		vacuolar protein sorting 33A							192.0	178.0	183.0					12																	122723220		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723220C>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1216G>T	12.37:g.122723220C>A	ENSP00000267199:p.Val406Leu					VPS33A_uc001ucc.2_RNA	p.V406L	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1329	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		406					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.1216G>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995614	0.54147	.	.	ENSG00000139719	ENST00000267199	T	0.32515	1.45	5.59	4.59	0.56863	.	0.060844	0.64402	D	0.000007	T	0.38558	0.1045	M	0.86420	2.815	0.80722	D	1	P	0.36974	0.576	B	0.41174	0.349	T	0.50457	-0.8826	10	0.72032	D	0.01	-31.6814	3.6457	0.08184	0.0:0.6536:0.0:0.3464	.	406	Q96AX1	VP33A_HUMAN	L	406	ENSP00000267199:V406L	ENSP00000446319:V367L	V	-	1	0	VPS33A	121289173	1.000000	0.71417	0.973000	0.42090	0.079000	0.17450	4.127000	0.57944	2.631000	0.89168	0.557000	0.71058	GTG		0.343	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			61	124	1	0	3.14e-25	4.42e-25	61	124				
EIF2B1	1967	broad.mit.edu	37	12	124107222	124107222	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:124107222G>A	ENST00000424014.2	-	8	922	c.714C>T	c.(712-714)ctC>ctT	p.L238L	EIF2B1_ENST00000539951.1_Missense_Mutation_p.S200F	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	238					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTAGTGGAAAGAGCCGGACAA	0.418																																						uc001ufm.2		NA																	0					0						c.(712-714)CTC>CTT		eukaryotic translation initiation factor 2B,							111.0	108.0	109.0					12																	124107222		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124107222G>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.714C>T	12.37:g.124107222G>A						EIF2B1_uc001ufn.2_Silent_p.L236L	p.L238L	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	8	857	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		238					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.714C>T	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716336	0.30413	.	.	ENSG00000111361	ENST00000539951	T	0.80033	-1.33	6.17	4.34	0.51931	.	.	.	.	.	D	0.82692	0.5092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82104	-0.0622	6	0.87932	D	0	-20.5871	6.6253	0.22826	0.1941:0.0:0.6773:0.1286	.	.	.	.	F	200	ENSP00000438060:S200F	ENSP00000438060:S200F	S	-	2	0	EIF2B1	122673175	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.521000	0.35910	0.925000	0.37094	0.655000	0.94253	TCT		0.418	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		16	79	0	0	0	0	16	79				
TMEM132D	121256	broad.mit.edu	37	12	130184841	130184841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:130184841G>T	ENST00000422113.2	-	2	808	c.482C>A	c.(481-483)gCc>gAc	p.A161D	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	161					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTCCCCGGCGCTGCGGTC	0.642																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(481-483)GCC>GAC		transmembrane protein 132D precursor							21.0	22.0	22.0					12																	130184841		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184841G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.482C>A	12.37:g.130184841G>T	ENSP00000408581:p.Ala161Asp						p.A161D	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	810	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	161			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.482C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456287	0.26161	.	.	ENSG00000151952	ENST00000422113	T	0.12569	2.67	5.33	4.41	0.53225	.	6.172450	0.00447	N	0.000088	T	0.16938	0.0407	L	0.46157	1.445	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.32107	-0.9919	9	.	.	.	-5.3276	9.3469	0.38113	0.0752:0.0:0.7751:0.1497	.	161	Q14C87	T132D_HUMAN	D	161	ENSP00000408581:A161D	.	A	-	2	0	TMEM132D	128750794	0.994000	0.37717	0.001000	0.08648	0.130000	0.20726	5.427000	0.66483	1.166000	0.42689	0.555000	0.69702	GCC		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	24	1	0	8.13e-05	0.000105618	7	24				
POLE	5426	broad.mit.edu	37	12	133245062	133245062	+	Missense_Mutation	SNP	G	G	A	rs116326665		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:133245062G>A	ENST00000320574.5	-	19	2096	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	POLE_ENST00000535270.1_Missense_Mutation_p.R658W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	685					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGCTGGATCCGATGGTATTCG	0.592								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2053-2055)CGG>TGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							71.0	79.0	76.0					12																	133245062		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245062G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2053C>T	12.37:g.133245062G>A	ENSP00000322570:p.Arg685Trp					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R658W	p.R685W	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2097	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	685					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2053C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174570	0.78452	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.15256	4.09;4.09;4.09;2.44	5.62	4.72	0.59763	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.76170	2.325	0.80722	D	1	D;P	0.89917	1.0;0.47	D;B	0.72625	0.978;0.331	T	0.39542	-0.9609	10	0.52906	T	0.07	.	15.8818	0.79208	0.0:0.0:0.8634:0.1366	.	658;685	F5H1D6;Q07864	.;DPOE1_HUMAN	W	685;696;658;465;620	ENSP00000322570:R685W;ENSP00000406383:R696W;ENSP00000445753:R658W;ENSP00000442519:R465W	ENSP00000322570:R685W	R	-	1	2	POLE	131755135	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.911000	0.87458	1.350000	0.45770	-0.321000	0.08615	CGG		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		41	85	0	0	0	0	41	85				
MAB21L1	4081	broad.mit.edu	37	13	36050072	36050072	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:36050072G>A	ENST00000379919.4	-	1	760	c.204C>T	c.(202-204)gtC>gtT	p.V68V	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	68					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGGGGGAGATGACCTCGAGGC	0.552																																						uc001uvc.2		NA																	0				ovary(2)	2						c.(202-204)GTC>GTT		mab-21-like protein 1							100.0	98.0	98.0					13																	36050072		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050072G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.204C>T	13.37:g.36050072G>A						NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.V68V	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	761	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	68					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.204C>T	CCDS9353.1																																																																																				0.552	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		24	64	0	0	0	0	24	64				
RCBTB1	55213	broad.mit.edu	37	13	50123786	50123786	+	Splice_Site	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:50123786T>C	ENST00000378302.2	-	9	1115		c.e9-2		RCBTB1_ENST00000546015.1_Splice_Site|RCBTB1_ENST00000258646.3_Splice_Site	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCTACCACCCTGAAAAGTTTT	0.502																																						uc001vde.1		NA																	0				ovary(1)	1						c.e9-1		regulator of chromosome condensation (RCC1) and							50.0	50.0	50.0					13																	50123786		2203	4300	6503	SO:0001630	splice_region_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123786T>C	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.855-2A>G	13.37:g.50123786T>C							p.R285_splice	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1116	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)						Q8IY29|Q969U9	Splice_Site	SNP	ENST00000378302.2	37	c.855_splice	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146360	0.77888	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9777	0.71286	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RCBTB1	49021787	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	7.698000	0.84413	1.939000	0.56221	0.379000	0.24179	.		0.502	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191	Intron	3	60	0	0	0	0	3	60				
PCDH20	64881	broad.mit.edu	37	13	61987588	61987588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:61987588G>A	ENST00000409186.1	-	5	2749	c.644C>T	c.(643-645)tCg>tTg	p.S215L	PCDH20_ENST00000409204.4_Missense_Mutation_p.S215L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GACCCACACCGAGATCTGGGA	0.532																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(643-645)TCG>TTG		protocadherin 20							109.0	98.0	102.0					13																	61987588		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987588G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.644C>T	13.37:g.61987588G>A	ENSP00000386653:p.Ser215Leu					PCDH20_uc010thj.1_Missense_Mutation_p.S215L	p.S215L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1008	-		Breast(118;0.195)|Prostate(109;0.229)	188			Cadherin 2.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.644C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	g	12.93	2.085617	0.36758	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.67523	-0.27;-0.27	5.76	4.04	0.47022	.	0.309310	0.28296	N	0.015862	T	0.44829	0.1312	L	0.28608	0.87	0.09310	N	1	P	0.39520	0.676	B	0.32289	0.143	T	0.46978	-0.9152	10	0.56958	D	0.05	.	2.5793	0.04814	0.1461:0.1115:0.4762:0.2662	.	215	A8K1K9	.	L	215	ENSP00000387250:S215L;ENSP00000386653:S215L	ENSP00000386653:S215L	S	-	2	0	PCDH20	60885589	0.000000	0.05858	0.013000	0.15412	0.947000	0.59692	0.103000	0.15292	0.792000	0.33850	-0.144000	0.13903	TCG		0.532	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		18	63	0	0	0	0	18	63				
DOCK9	23348	broad.mit.edu	37	13	99476728	99476728	+	Missense_Mutation	SNP	C	C	A	rs535191163		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:99476728C>A	ENST00000376460.1	-	46	5134	c.5054G>T	c.(5053-5055)aGg>aTg	p.R1685M	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.R1686M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1686	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTAATGACCCTGAAGGCGGT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19470	0.0		0.0	False		,,,				2504	0.001					uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(5056-5058)AGG>ATG		dedicator of cytokinesis 9 isoform a							143.0	137.0	139.0					13																	99476728		2002	4161	6163	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99476728C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5054G>T	13.37:g.99476728C>A	ENSP00000365643:p.Arg1685Met					DOCK9_uc001vnw.2_Missense_Mutation_p.R1685M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1663M|DOCK9_uc001vnq.2_Missense_Mutation_p.R235M|DOCK9_uc001vnr.2_Missense_Mutation_p.R329M|DOCK9_uc010tin.1_Missense_Mutation_p.R306M|DOCK9_uc001vns.2_Missense_Mutation_p.R235M|DOCK9_uc010tio.1_Missense_Mutation_p.R355M|DOCK9_uc010tip.1_Missense_Mutation_p.R396M|DOCK9_uc001vnu.1_Missense_Mutation_p.R235M|DOCK9_uc010tiq.1_Missense_Mutation_p.R641M	p.R1686M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			46	5112	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1686			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5057G>T	CCDS45062.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.3|21.3|21.3	4.134916|4.134916|4.134916	0.77662|0.77662|0.77662	.|.|.	.|.|.	ENSG00000088387|ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000400228|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000451563;ENST00000340449	.|.|T;T;T;T	.|.|0.46819	.|.|2.41;2.49;0.86;0.9	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	.|.|0.049305	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.53367|0.53367|0.53367	0.1792|0.1792|0.1792	N|N|N	0.21448|0.21448|0.21448	0.665|0.665|0.665	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;B;B;B;B;P;B;B	.|.|0.89917	.|.|1.0;0.435;0.071;0.367;0.076;0.471;0.045;0.117	.|.|D;B;B;B;B;B;B;B	.|.|0.85130	.|.|0.997;0.105;0.04;0.217;0.047;0.247;0.021;0.086	T|T|T	0.53173|0.53173|0.53173	-0.8476|-0.8476|-0.8476	5|5|10	.|.|0.45353	.|.|T	.|.|0.12	.|.|.	12.5809|12.5809|12.5809	0.56390|0.56390|0.56390	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.|.	.|.|1663;405;306;1685;306;1686;355;305	.|.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4	.|.|.;.;.;.;.;DOCK9_HUMAN;.;.	W|H|M	103|249|1685;1686;1678;1663;1685;593;1686;305;50;306	.|.|ENSP00000365643:R1685M;ENSP00000341086:R1686M;ENSP00000407610:R50M;ENSP00000344702:R306M	.|.|ENSP00000341086:R1686M	G|Q|R	-|-|-	1|3|2	0|2|0	DOCK9|DOCK9|DOCK9	98274729|98274729|98274729	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	3.639000|3.639000|3.639000	0.54339|0.54339|0.54339	2.546000|2.546000|2.546000	0.85860|0.85860|0.85860	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|CAG|AGG		0.542	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		30	85	1	0	9.65e-13	1.33e-12	30	85				
PCCA	5095	broad.mit.edu	37	13	100982841	100982841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:100982841C>T	ENST00000376285.1	+	17	1494	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCCA_ENST00000376279.3_Nonsense_Mutation_p.R486*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.R460*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	486	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGCATTACTTCGAGAGGTGAT	0.323																																						uc001voo.2		NA																	0				skin(2)	2						c.(1456-1458)CGA>TGA		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						120.0	110.0	113.0					13																	100982841		2203	4300	6503	SO:0001587	stop_gained	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100982841C>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1456C>T	13.37:g.100982841C>T	ENSP00000365462:p.Arg486*					PCCA_uc010aga.2_Nonsense_Mutation_p.R460*|PCCA_uc010tiz.1_Nonsense_Mutation_p.R486*|PCCA_uc001vop.2_RNA	p.R486*	NM_000282	NP_000273	P05165	PCCA_HUMAN			17	1494	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		486			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Nonsense_Mutation	SNP	ENST00000376285.1	37	c.1456C>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	37	6.517489	0.97629	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000424527;ENST00000376254	.	.	.	4.91	2.95	0.34219	.	0.136685	0.48286	D	0.000194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7961	0.63171	0.3282:0.6718:0.0:0.0	.	.	.	.	X	460;486;486;20;77	.	ENSP00000365430:R77X	R	+	1	2	PCCA	99780842	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.228000	0.42981	2.285000	0.76669	0.557000	0.71058	CGA		0.323	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			5	31	0	0	0	0	5	31				
LIG4	3981	broad.mit.edu	37	13	108863582	108863582	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:108863582G>C	ENST00000356922.4	-	2	307	c.35C>G	c.(34-36)tCt>tGt	p.S12C	LIG4_ENST00000405925.1_Missense_Mutation_p.S12C|LIG4_ENST00000442234.1_Missense_Mutation_p.S12C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	12					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGGAACGTGAGATGCAACAGT	0.353								Non-homologous end-joining																														uc001vqn.2		NA																	0					0						c.(34-36)TCT>TGT	NHEJ	DNA ligase IV							31.0	32.0	32.0					13																	108863582		2192	4257	6449	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863582G>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.35C>G	13.37:g.108863582G>C	ENSP00000349393:p.Ser12Cys					LIG4_uc001vqo.2_Missense_Mutation_p.S12C|LIG4_uc010agg.1_Intron|LIG4_uc010agf.2_Missense_Mutation_p.S12C|LIG4_uc001vqp.2_Missense_Mutation_p.S12C	p.S12C	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	308	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		12					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.35C>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610654	0.87258	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.20598	2.06;2.06;2.06	6.06	5.21	0.72293	DNA ligase, ATP-dependent, N-terminal (2);	0.114390	0.64402	D	0.000010	T	0.17831	0.0428	N	0.08118	0	0.50039	D	0.999845	P	0.45176	0.852	P	0.48270	0.572	T	0.11275	-1.0594	10	0.66056	D	0.02	.	14.5633	0.68156	0.0697:0.0:0.9303:0.0	.	12	P49917	DNLI4_HUMAN	C	12	ENSP00000385955:S12C;ENSP00000402030:S12C;ENSP00000349393:S12C	ENSP00000349393:S12C	S	-	2	0	LIG4	107661583	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	9.338000	0.96553	1.573000	0.49748	0.643000	0.83706	TCT		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		8	24	0	0	0	0	8	24				
DHRS2	10202	broad.mit.edu	37	14	24114362	24114362	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr14:24114362C>G	ENST00000250383.6	+	9	1219	c.743C>G	c.(742-744)tCa>tGa	p.S248*	DHRS2_ENST00000344777.7_Missense_Mutation_p.Q252E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	248					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATTGGGGAGTCAGAGGACTGT	0.567																																						uc001wkt.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(754-756)CAG>GAG		dehydrogenase/reductase member 2 isoform 1							181.0	148.0	159.0					14																	24114362		2203	4300	6503	SO:0001587	stop_gained	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24114362C>G		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.743C>G	14.37:g.24114362C>G	ENSP00000250383:p.Ser248*					DHRS2_uc001wku.3_Nonsense_Mutation_p.S248*|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.V249V	p.Q252E	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	9	1201	+			Error:Variant_position_missing_in_Q13268_after_alignment					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.754C>G	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.580442|4.580442	0.86645|0.86645	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000344777|ENST00000250383	T|.	0.81330|.	-1.48|.	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	2.282480|.	0.02478|.	N|.	0.088227|.	T|.	0.57873|.	0.2083|.	.|.	.|.	.|.	0.28845|0.28845	N|N	0.896375|0.896375	B|.	0.19200|.	0.034|.	B|.	0.16289|.	0.015|.	T|.	0.57165|.	-0.7858|.	9|.	0.87932|0.87932	D|D	0|0	.|.	14.8992|14.8992	0.70666|0.70666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	230|.	Q13268-2|.	.|.	E|X	252|248	ENSP00000344674:Q252E|.	ENSP00000344674:Q252E|ENSP00000250383:S248X	Q|S	+|+	1|2	0|0	DHRS2|DHRS2	23184202|23184202	0.986000|0.986000	0.35501|0.35501	0.646000|0.646000	0.29493|0.29493	0.456000|0.456000	0.32438|0.32438	6.300000|6.300000	0.72776|0.72776	2.448000|2.448000	0.82819|0.82819	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.567	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		33	111	0	0	0	0	33	111				
EMC7	56851	broad.mit.edu	37	15	34380295	34380295	+	Silent	SNP	G	G	A	rs151160666		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:34380295G>A	ENST00000256545.4	-	4	643	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	179						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ACTTTAGGCAGAAGCACAAAT	0.358																																						uc001zhm.2		NA																	0					0						c.(535-537)CTG>TTG		chromosome 15 open reading frame 24 precursor		G		1,4401	2.1+/-5.4	0,1,2200	75.0	71.0	73.0		535	1.7	1.0	15	dbSNP_134	73	0,8596		0,0,4298	no	coding-synonymous	C15orf24	NM_020154.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		179/243	34380295	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	56851					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding	g.chr15:34380295G>A	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.535C>T	15.37:g.34380295G>A						C15orf24_uc001zhn.2_Silent_p.L62L	p.L179L	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	4	548	-		all_lung(180;1.76e-08)	179			Helical; (Potential).		B2RC00|Q96ED5	Silent	SNP	ENST00000256545.4	37	c.535C>T	CCDS10032.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943360	0.18281	2.27E-4	0.0	ENSG00000134153	ENST00000527822	.	.	.	5.54	1.67	0.24075	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	4	.	.	.	-11.0844	9.9135	0.41419	0.3595:0.0:0.6405:0.0	.	.	.	.	F	128	.	.	S	-	2	0	C15orf24	32167587	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	1.731000	0.38135	0.167000	0.19631	-0.143000	0.13931	TCT		0.358	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		3	22	0	0	0	0	3	22				
DISP2	85455	broad.mit.edu	37	15	40655921	40655921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:40655921C>T	ENST00000267889.3	+	2	302	c.215C>T	c.(214-216)cCc>cTc	p.P72L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	72					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTTCAGGACCCCCACCAACA	0.657																																						uc001zlk.1		NA																	0				ovary(2)	2						c.(214-216)CCC>CTC		dispatched B							66.0	71.0	69.0					15																	40655921		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655921C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.215C>T	15.37:g.40655921C>T	ENSP00000267889:p.Pro72Leu						p.P72L	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	304	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	72					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.215C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815422	0.32053	.	.	ENSG00000140323	ENST00000267889	T	0.12569	2.67	5.17	4.24	0.50183	.	0.814446	0.11727	N	0.535314	T	0.15912	0.0383	L	0.44542	1.39	0.20196	N	0.999926	B	0.26809	0.16	B	0.31337	0.128	T	0.19321	-1.0309	10	0.66056	D	0.02	-13.2657	11.7241	0.51700	0.0:0.8232:0.1768:0.0	.	72	A7MBM2	DISP2_HUMAN	L	72	ENSP00000267889:P72L	ENSP00000267889:P72L	P	+	2	0	DISP2	38443213	0.027000	0.19231	0.084000	0.20598	0.931000	0.56810	1.072000	0.30678	1.380000	0.46344	0.563000	0.77884	CCC		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		36	65	0	0	0	0	36	65				
PLA2G4B	100137049	broad.mit.edu	37	15	42132731	42132731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132731C>G	ENST00000452633.1	+	4	444	c.92C>G	c.(91-93)tCt>tGt	p.S31C	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S262C|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262C|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S262C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	31	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GTGACCCCCTCTGACTGCTAC	0.622																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(91-93)TCT>TGT		phospholipase A2, group IVB							65.0	68.0	67.0					15																	42132731		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132731C>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.92C>G	15.37:g.42132731C>G	ENSP00000396045:p.Ser31Cys					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.S31C	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			3	193	+			31			C2.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.92C>G	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.729136	0.69074	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.463445	0.21983	N	0.066264	D	0.84552	0.5497	M	0.71920	2.185	0.42369	D	0.992449	D;D;D	0.76494	0.996;0.995;0.999	D;P;P	0.65684	0.937;0.874;0.871	D	0.86061	0.1532	10	0.87932	D	0	-12.1795	16.2887	0.82737	0.0:1.0:0.0:0.0	.	31;262;262	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	C	262;262;31;31	ENSP00000371886:S262C;ENSP00000342785:S262C;ENSP00000416610:S31C;ENSP00000396045:S31C	ENSP00000342785:S262C	S	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920023	0.978000	0.34361	1.000000	0.80357	0.444000	0.32077	5.161000	0.64935	2.793000	0.96121	0.655000	0.94253	TCT		0.622	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		17	62	0	0	0	0	17	62				
PLA2G4B	100137049	broad.mit.edu	37	15	42132977	42132977	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132977C>T	ENST00000452633.1	+	5	577	c.225C>T	c.(223-225)gtC>gtT	p.V75V	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.V306V|PLA2G4B_ENST00000458483.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V306V|PLA2G4B_ENST00000542534.2_Silent_p.V306V			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	75	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCCAGAATGTCATGGAACTGA	0.592																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(223-225)GTC>GTT		phospholipase A2, group IVB							96.0	91.0	93.0					15																	42132977		2203	4300	6503	SO:0001819	synonymous_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132977C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.225C>T	15.37:g.42132977C>T						JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V306V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V306V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.V75V	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			4	326	+			75			C2.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.225C>T	CCDS45241.1																																																																																				0.592	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		20	62	0	0	0	0	20	62				
PLA2G4B	100137049	broad.mit.edu	37	15	42133453	42133453	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42133453C>T	ENST00000452633.1	+	7	769	c.417C>T	c.(415-417)gtC>gtT	p.V139V	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.V370V|PLA2G4B_ENST00000458483.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V370V|PLA2G4B_ENST00000542534.2_Silent_p.V370V			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	139					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGTGGCTCGTCAGCAATGGCG	0.667																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(415-417)GTC>GTT		phospholipase A2, group IVB							71.0	84.0	79.0					15																	42133453		2203	4300	6503	SO:0001819	synonymous_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133453C>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.417C>T	15.37:g.42133453C>T						JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V370V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V370V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.V139V	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			6	518	+			139					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.417C>T	CCDS45241.1																																																																																				0.667	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		17	85	0	0	0	0	17	85				
PLA2G4B	100137049	broad.mit.edu	37	15	42134763	42134763	+	Missense_Mutation	SNP	G	G	A	rs2290552	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134763G>A	ENST00000452633.1	+	11	1069	c.717G>A	c.(715-717)atG>atA	p.M239I	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.M470I|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M470I|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.M470I			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	239			M -> I (in dbSNP:rs2290552).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGCCCCTGATGAGAGTGGAGC	0.637													g|||	6	0.00119808	0.0	0.0	5008	,	,		15589	0.006		0.0	False		,,,				2504	0.0					uc010bco.2		NA																	0				large_intestine(1)	1						c.(715-717)ATG>ATA		phospholipase A2, group IVB							46.0	50.0	49.0					15																	42134763		2203	4299	6502	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42134763G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.717G>A	15.37:g.42134763G>A	ENSP00000396045:p.Met239Ile					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR	p.M239I	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			10	818	+			239					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.717G>A	CCDS45241.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	.	10.50	1.366518	0.24771	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01406	5.25;4.93;5.16;5.16	4.91	3.99	0.46301	Lysophospholipase, catalytic domain (1);	0.313560	0.27358	N	0.019732	T	0.01320	0.0043	L	0.51422	1.61	0.29833	N	0.829886	B;B;B	0.26876	0.062;0.0;0.162	B;B;B	0.25759	0.013;0.003;0.063	T	0.15954	-1.0419	10	0.46703	T	0.11	-1.2863	9.3301	0.38016	0.1012:0.0:0.8988:0.0	rs2290552;rs2290552	239;470;470	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	I	470;470;239;239	ENSP00000371886:M470I;ENSP00000342785:M470I;ENSP00000416610:M239I;ENSP00000396045:M239I	ENSP00000342785:M470I	M	+	3	0	JMJD7-PLA2G4B;PLA2G4B	39922055	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.199000	0.42715	1.190000	0.43042	0.563000	0.77884	ATG		0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		7	37	0	0	0	0	7	37				
PLA2G4B	100137049	broad.mit.edu	37	15	42134775	42134775	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134775G>A	ENST00000452633.1	+	11	1081	c.729G>A	c.(727-729)ctG>ctA	p.L243L	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.L474L|PLA2G4B_ENST00000458483.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L474L|PLA2G4B_ENST00000542534.2_Silent_p.L474L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	243					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAGTGGAGCTGAAAAAAGAAG	0.627																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(727-729)CTG>CTA		phospholipase A2, group IVB							46.0	51.0	50.0					15																	42134775		2203	4299	6502	SO:0001819	synonymous_variant	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42134775G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.729G>A	15.37:g.42134775G>A						JMJD7-PLA2G4B_uc001zoo.3_Silent_p.L474L|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.L474L|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR	p.L243L	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			10	830	+			243					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.729G>A	CCDS45241.1																																																																																				0.627	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		7	38	0	0	0	0	7	38				
WDR76	79968	broad.mit.edu	37	15	44158387	44158387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:44158387G>A	ENST00000263795.6	+	13	1748	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.E496K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	560										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCTAAACAAGAAGACTGTGT	0.458																																						uc001zti.1		NA																	0					0						c.(1678-1680)GAA>AAA		WD repeat domain 76							147.0	125.0	133.0					15																	44158387		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44158387G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1678G>A	15.37:g.44158387G>A	ENSP00000263795:p.Glu560Lys						p.E560K	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	13	1701	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	560			WD 6.		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1678G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908337	0.92107	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	D;D	0.84070	-1.8;-1.78	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.095859	0.64402	D	0.000001	D	0.87939	0.6304	M	0.73217	2.22	0.52501	D	0.99995	P	0.42871	0.792	P	0.49597	0.616	D	0.86356	0.1714	10	0.44086	T	0.13	-13.6546	19.6283	0.95689	0.0:0.0:1.0:0.0	.	560	Q9H967	WDR76_HUMAN	K	560;496	ENSP00000263795:E560K;ENSP00000370645:E496K	ENSP00000263795:E560K	E	+	1	0	WDR76	41945679	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.985000	0.76193	2.885000	0.99019	0.655000	0.94253	GAA		0.458	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		16	54	0	0	0	0	16	54				
DUOXA2	405753	broad.mit.edu	37	15	45408913	45408913	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:45408913C>T	ENST00000323030.5	+	4	825	c.540C>T	c.(538-540)gcC>gcT	p.A180A	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	180					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GACACTACGCCTCGGCCACGC	0.647																																						uc001zuo.2		NA																	0					0						c.(538-540)GCC>GCT		dual oxidase activator 2							31.0	35.0	34.0					15																	45408913		2179	4263	6442	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408913C>T	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.540C>T	15.37:g.45408913C>T						DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.A180A	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	820	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	180			Extracellular (Potential).		B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.540C>T	CCDS10118.2																																																																																				0.647	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		7	17	0	0	0	0	7	17				
IGDCC4	57722	broad.mit.edu	37	15	65678901	65678901	+	Missense_Mutation	SNP	C	C	T	rs147594173		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:65678901C>T	ENST00000352385.2	-	17	3148	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	980						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGGGGGCTGCGGCGCAGGCC	0.632											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18864	0.001		0.0	False		,,,				2504	0.0					uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2938-2940)CGC>CAC		immunoglobulin superfamily, DCC subclass, member		C	HIS/ARG	0,4394		0,0,2197	29.0	24.0	26.0		2939	4.2	1.0	15	dbSNP_134	26	7,8589		0,7,4291	yes	missense	IGDCC4	NM_020962.1	29	0,7,6488	TT,TC,CC		0.0814,0.0,0.0539	probably-damaging	980/1251	65678901	7,12983	2197	4298	6495	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65678901C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2939G>A	15.37:g.65678901C>T	ENSP00000319623:p.Arg980His		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Missense_Mutation_p.R568H	p.R980H	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			17	3149	-			980			Cytoplasmic (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2939G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547735	0.65311	0.0	8.14E-4	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.61392	0.11	5.35	4.23	0.50019	.	0.396313	0.25267	N	0.031904	T	0.39963	0.1098	L	0.40543	1.245	0.28974	N	0.889037	D	0.55385	0.971	B	0.36378	0.223	T	0.52675	-0.8544	10	0.72032	D	0.01	-18.5171	6.2136	0.20644	0.0:0.7246:0.0:0.2754	.	980	Q8TDY8	IGDC4_HUMAN	H	980;709	ENSP00000319623:R980H	ENSP00000319623:R980H	R	-	2	0	IGDCC4	63465954	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.698000	0.37794	2.528000	0.85240	0.491000	0.48974	CGC		0.632	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	14	0	0	0	0	5	14				
ITGA11	22801	broad.mit.edu	37	15	68605146	68605146	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:68605146C>T	ENST00000315757.7	-	24	3024	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	ITGA11_ENST00000423218.2_Missense_Mutation_p.D980N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	980					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCGATACCATCGTATCTCTCC	0.637																																						uc002ari.2		NA																	0				kidney(2)|pancreas(1)	3						c.(2938-2940)GAT>AAT		integrin, alpha 11 precursor	Tirofiban(DB00775)						74.0	76.0	76.0					15																	68605146		2070	4221	6291	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68605146C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2938G>A	15.37:g.68605146C>T	ENSP00000327290:p.Asp980Asn					ITGA11_uc010bib.2_Missense_Mutation_p.D980N	p.D980N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			24	3025	-			980			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2938G>A	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	6.899	0.535471	0.13188	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.51325	0.71;0.71	4.97	-1.13	0.09775	Integrin alpha-2 (1);	0.513245	0.22316	N	0.061677	T	0.19685	0.0473	N	0.04043	-0.29	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.11329	0.005;0.006	T	0.10800	-1.0614	10	0.48119	T	0.1	.	5.0465	0.14487	0.0:0.3324:0.2919:0.3757	.	980;980	A8K8T0;Q9UKX5	.;ITA11_HUMAN	N	980;980;615	ENSP00000327290:D980N;ENSP00000403392:D980N	ENSP00000327290:D980N	D	-	1	0	ITGA11	66392200	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-0.209000	0.09358	-0.091000	0.12440	0.561000	0.74099	GAT		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		7	29	0	0	0	0	7	29				
OR4F4	26682	broad.mit.edu	37	15	102462360	102462360	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:102462360A>G	ENST00000326183.3	-	1	938	c.903T>C	c.(901-903)tcT>tcC	p.S301S		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACTTTACACTAGAATGTGCAT	0.343																																						uc002cdf.1		NA																	0					0						c.(901-903)TCT>TCC		olfactory receptor, family 4, subfamily F,							146.0	211.0	189.0					15																	102462360		2158	4296	6454	SO:0001819	synonymous_variant	26682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102462360A>G		CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"""GPCR / Class A : Olfactory receptors"""	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.903T>C	15.37:g.102462360A>G							p.S301S	NM_001004195	NP_001004195	Q96R69	OR4F4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	903	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		301			Cytoplasmic (Potential).		B2RNI5|Q6IFN9	Silent	SNP	ENST00000326183.3	37	c.903T>C	CCDS32343.1																																																																																				0.343	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		23	267	0	0	0	0	23	267				
ARL6IP1	23204	broad.mit.edu	37	16	18809332	18809332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:18809332C>G	ENST00000304414.7	-	3	416	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	ARL6IP1_ENST00000546206.2_Missense_Mutation_p.G40R|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.G69R|ARL6IP1_ENST00000562819.1_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	69					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CAGGAAACGCCGGACAGAACA	0.343																																						uc002dfl.1		NA																	0					0						c.(205-207)GGC>CGC		ADP-ribosylation factor-like 6 interacting							60.0	60.0	60.0					16																	18809332		2197	4300	6497	SO:0001583	missense	23204					integral to membrane	protein binding	g.chr16:18809332C>G	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.205G>C	16.37:g.18809332C>G	ENSP00000306788:p.Gly69Arg					ARL6IP1_uc010van.1_Missense_Mutation_p.G40R|ARL6IP1_uc010bvz.1_RNA	p.G69R	NM_015161	NP_055976	Q15041	AR6P1_HUMAN			3	274	-			69			Helical; (Potential).			Missense_Mutation	SNP	ENST00000304414.7	37	c.205G>C	CCDS10572.1	.	.	.	.	.	.	.	.	.	.	c	32	5.129755	0.94473	.	.	ENSG00000170540	ENST00000304414;ENST00000545430;ENST00000546206	T;T	0.42900	0.96;0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55263	-0.8168	10	0.23891	T	0.37	-6.854	19.3062	0.94164	0.0:1.0:0.0:0.0	.	69	Q15041	AR6P1_HUMAN	R	69;21;40	ENSP00000306788:G69R;ENSP00000440048:G40R	ENSP00000306788:G69R	G	-	1	0	ARL6IP1	18716833	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	7.818000	0.86416	2.722000	0.93159	0.655000	0.94253	GGC		0.343	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		7	44	0	0	0	0	7	44				
DNAH3	55567	broad.mit.edu	37	16	20975470	20975470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:20975470G>C	ENST00000261383.3	-	53	9735	c.9736C>G	c.(9736-9738)Ctc>Gtc	p.L3246V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3246	AAA 5. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGAGAGAACCTCCAAG	0.443																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9736-9738)CTC>GTC		dynein, axonemal, heavy chain 3							150.0	136.0	140.0					16																	20975470		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975470G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9736C>G	16.37:g.20975470G>C	ENSP00000261383:p.Leu3246Val					DNAH3_uc010vbd.1_Missense_Mutation_p.L681V	p.L3246V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9736	-			3246			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9736C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672675	0.47781	.	.	ENSG00000158486	ENST00000261383	T	0.69806	-0.43	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.87414	0.6171	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89634	0.3857	10	0.72032	D	0.01	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	3246	Q8TD57	DYH3_HUMAN	V	3246	ENSP00000261383:L3246V	ENSP00000261383:L3246V	L	-	1	0	DNAH3	20882971	1.000000	0.71417	0.989000	0.46669	0.509000	0.34042	8.062000	0.89475	2.755000	0.94549	0.591000	0.81541	CTC		0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		33	98	0	0	0	0	33	98				
LONP2	83752	broad.mit.edu	37	16	48382183	48382183	+	Silent	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:48382183G>C	ENST00000285737.4	+	14	2412	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L729L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATTACACTGAGAGGTCTTG	0.353																																						uc002efi.1		NA																	0					0						c.(2317-2319)CTG>CTC		peroxisomal LON protease-like							125.0	126.0	126.0					16																	48382183		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48382183G>C	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2319G>C	16.37:g.48382183G>C						LONP2_uc002efj.1_Silent_p.L729L	p.L773L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			14	2408	+			773						Silent	SNP	ENST00000285737.4	37	c.2319G>C	CCDS10734.1																																																																																				0.353	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		31	112	0	0	0	0	31	112				
CHD9	80205	broad.mit.edu	37	16	53272475	53272475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:53272475G>A	ENST00000398510.3	+	11	2941	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	CHD9_ENST00000566029.1_Missense_Mutation_p.E952K|CHD9_ENST00000447540.1_Missense_Mutation_p.E952K|CHD9_ENST00000564845.1_Missense_Mutation_p.E952K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	952	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCAATACGAGATGTACTT	0.373																																						uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(2854-2856)GAG>AAG		chromodomain helicase DNA binding protein 9							253.0	235.0	241.0					16																	53272475		1857	4114	5971	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53272475G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2854G>A	16.37:g.53272475G>A	ENSP00000381522:p.Glu952Lys					CHD9_uc002egy.2_Missense_Mutation_p.E952K|CHD9_uc002eha.1_Missense_Mutation_p.E952K|CHD9_uc002ehc.2_Missense_Mutation_p.E952K|CHD9_uc002ehf.2_Missense_Mutation_p.E66K|CHD9_uc002ehd.2_Missense_Mutation_p.E478K|CHD9_uc002ehe.1_Missense_Mutation_p.E66K	p.E952K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			11	3018	+		all_cancers(37;0.0212)	952			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2854G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.571236	0.96553	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93488	-3.23;-3.23	5.18	5.18	0.71444	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000015	D	0.96676	0.8915	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.999;0.999	D;P;D;D	0.79784	0.962;0.897;0.993;0.988	D	0.97199	0.9863	10	0.87932	D	0	-14.694	18.7082	0.91646	0.0:0.0:1.0:0.0	.	478;952;952;952	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	952;952;478	ENSP00000396345:E952K;ENSP00000381522:E952K	ENSP00000219084:E478K	E	+	1	0	CHD9	51829976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.420000	0.82092	0.585000	0.79938	GAG		0.373	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		46	127	0	0	0	0	46	127				
VPS53	55275	broad.mit.edu	37	17	617910	617910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:617910C>G	ENST00000571805.1	-	1	176	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	VPS53_ENST00000291074.5_Missense_Mutation_p.E14Q|VPS53_ENST00000401468.3_Missense_Mutation_p.E14Q|VPS53_ENST00000574029.1_Missense_Mutation_p.E14Q|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.E14Q			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	14					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGCACGGCTTCCAGCTCCTCC	0.701																																						uc002frn.2		NA																	0					0						c.(40-42)GAA>CAA		vacuolar protein sorting 53 isoform 2							67.0	69.0	69.0					17																	617910		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:617910C>G		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.40G>C	17.37:g.617910C>G	ENSP00000459312:p.Glu14Gln					VPS53_uc010cjo.1_Missense_Mutation_p.E14Q|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E14Q|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.E14Q	p.E14Q	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	1	187	-			14					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.40G>C		.	.	.	.	.	.	.	.	.	.	C	21.6	4.174443	0.78452	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.48522	1.47;1.41;0.81;1.44	5.36	5.36	0.76844	.	0.044796	0.85682	D	0.000000	T	0.39306	0.1073	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.31318	0.319;0.241;0.155;0.241	B;B;B;B	0.31812	0.064;0.136;0.064;0.136	T	0.16394	-1.0404	10	0.16896	T	0.51	-24.3974	16.5629	0.84570	0.0:1.0:0.0:0.0	.	14;14;14;14	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	Q	14	ENSP00000401435:E14Q;ENSP00000291074:E14Q;ENSP00000384294:E14Q;ENSP00000373692:E14Q	ENSP00000291074:E14Q	E	-	1	0	VPS53	564660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.358000	0.73055	2.506000	0.84524	0.591000	0.81541	GAA		0.701	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		16	99	0	0	0	0	16	99				
ZNF594	84622	broad.mit.edu	37	17	5087253	5087253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:5087253C>T	ENST00000399604.4	-	1	439	c.299G>A	c.(298-300)aGa>aAa	p.R100K	ZNF594_ENST00000575779.1_Missense_Mutation_p.R100K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACCTCATATCTATGGGAGCT	0.373																																						uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(298-300)AGA>AAA		zinc finger protein 594							79.0	75.0	76.0					17																	5087253		1842	4098	5940	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087253C>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.299G>A	17.37:g.5087253C>T	ENSP00000382513:p.Arg100Lys						p.R100K	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	455	-			100					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.299G>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.671009	0.00104	.	.	ENSG00000180626	ENST00000399604	T	0.07567	3.18	2.51	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.44345	-0.9334	9	0.02654	T	1	.	3.5873	0.07975	0.1948:0.2654:0.0:0.5397	.	100	Q96JF6	ZN594_HUMAN	K	100	ENSP00000382513:R100K	ENSP00000382513:R100K	R	-	2	0	ZNF594	5027977	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.368000	0.02580	-0.299000	0.08909	-0.259000	0.10710	AGA		0.373	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		12	57	0	0	0	0	12	57				
MYH8	4626	broad.mit.edu	37	17	10296300	10296300	+	Nonsense_Mutation	SNP	C	C	A	rs199803469		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:10296300C>A	ENST00000403437.2	-	37	5405	c.5311G>T	c.(5311-5313)Gag>Tag	p.E1771*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1771					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTCAGCTCCTCAGCCATC	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(5311-5313)GAG>TAG		myosin, heavy chain 8, skeletal muscle,							140.0	138.0	139.0					17																	10296300		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296300C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5311G>T	17.37:g.10296300C>A	ENSP00000384330:p.Glu1771*					uc002gml.1_Intron	p.E1771*	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5406	-			1771			Potential.		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.5311G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	46	12.172769	0.99643	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.06	5.06	0.68205	.	0.000000	0.39687	U	0.001290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6259	0.91338	0.0:1.0:0.0:0.0	.	.	.	.	X	1771	.	ENSP00000252173:E1771X	E	-	1	0	MYH8	10237025	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.567000	0.82357	2.643000	0.89663	0.650000	0.86243	GAG		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		36	147	1	0	6.71e-13	9.24e-13	36	147				
KIAA0100	9703	broad.mit.edu	37	17	26960318	26960318	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:26960318G>A	ENST00000528896.2	-	19	3641	c.3567C>T	c.(3565-3567)aaC>aaT	p.N1189N	KIAA0100_ENST00000544884.1_Silent_p.N1046N|KIAA0100_ENST00000389003.3_Silent_p.N1046N|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1189						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTTCTCACGTTGATATCCA	0.512																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(3565-3567)AAC>AAT		hypothetical protein LOC9703 precursor							179.0	167.0	171.0					17																	26960318		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26960318G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3567C>T	17.37:g.26960318G>A							p.N1189N	NM_014680	NP_055495	Q14667	K0100_HUMAN			19	3666	-	Lung NSC(42;0.00431)		1189					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.3567C>T	CCDS32595.1																																																																																				0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		26	123	0	0	0	0	26	123				
GPR179	440435	broad.mit.edu	37	17	36482452	36482452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:36482452C>A	ENST00000342292.4	-	11	7020	c.7000G>T	c.(7000-7002)Gag>Tag	p.E2334*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2334					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACTGAGACTCAGCTTCCTGG	0.507																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(7000-7002)GAG>TAG		GPR158-like 1 precursor							139.0	131.0	133.0					17																	36482452		1929	4123	6052	SO:0001587	stop_gained	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36482452C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.7000G>T	17.37:g.36482452C>A	ENSP00000345060:p.Glu2334*						p.E2334*	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	7021	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2334			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000342292.4	37	c.7000G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	44	10.877887	0.99482	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.1	-1.18	0.09617	.	1.134270	0.06737	N	0.777609	.	.	.	.	.	.	0.49915	D	0.999838	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-3.6316	5.8776	0.18838	0.0:0.5033:0.1341:0.3626	.	.	.	.	X	2334	.	ENSP00000345060:E2334X	E	-	1	0	GPR179	33735978	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.186000	0.09670	-0.002000	0.14469	-0.203000	0.12734	GAG		0.507	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			29	135	1	0	1.75e-13	2.42e-13	29	135				
DHX8	1659	broad.mit.edu	37	17	41584941	41584941	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:41584941T>C	ENST00000262415.3	+	14	2066	c.1994T>C	c.(1993-1995)aTg>aCg	p.M665T	DHX8_ENST00000540306.1_Missense_Mutation_p.M665T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	665	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAGATGGGATGTTGCTTAGA	0.478																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(1993-1995)ATG>ACG		DEAH (Asp-Glu-Ala-His) box polypeptide 8							222.0	161.0	182.0					17																	41584941		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41584941T>C	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1994T>C	17.37:g.41584941T>C	ENSP00000262415:p.Met665Thr					DHX8_uc010wif.1_Missense_Mutation_p.M574T|DHX8_uc010wig.1_Missense_Mutation_p.M665T	p.M665T	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	14	2067	+		Breast(137;0.00908)	665			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000262415.3	37	c.1994T>C	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903334	0.72754	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.12569	2.67;2.67	5.99	5.99	0.97316	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.969;0.996	T	0.35871	-0.9771	10	0.87932	D	0	.	15.6754	0.77316	0.0:0.0:0.0:1.0	.	665;665	F5H658;Q14562	.;DHX8_HUMAN	T	665	ENSP00000437886:M665T;ENSP00000262415:M665T	ENSP00000262415:M665T	M	+	2	0	DHX8	38940467	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	7.918000	0.87506	2.291000	0.77112	0.533000	0.62120	ATG		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			13	60	0	0	0	0	13	60				
CHAD	1101	broad.mit.edu	37	17	48542772	48542772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:48542772C>T	ENST00000508540.1	-	3	1119	c.967G>A	c.(967-969)Gat>Aat	p.D323N	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.D323N	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	323	LRRCT.				bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGTGGCATCTGGGCGGGAG	0.617																																						uc010dbr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(967-969)GAT>AAT		chondroadherin precursor							49.0	43.0	45.0					17																	48542772		2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48542772C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.967G>A	17.37:g.48542772C>T	ENSP00000423812:p.Asp323Asn					ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.D323N|ACSF2_uc010dbt.1_5'Flank	p.D323N	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		3	1020	-	Breast(11;1.93e-18)		323			LRRCT.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.967G>A	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637848	0.47049	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Cysteine-rich flanking region, C-terminal (1);	0.108090	0.64402	D	0.000008	T	0.34890	0.0913	N	0.17838	0.53	0.52099	D	0.999949	B	0.12013	0.005	B	0.10450	0.005	T	0.15925	-1.0420	10	0.14252	T	0.57	.	11.9945	0.53194	0.0:0.9207:0.0:0.0792	.	323	O15335	CHAD_HUMAN	N	323	ENSP00000423812:D323N;ENSP00000258969:D323N	ENSP00000258969:D323N	D	-	1	0	CHAD	45897771	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.242000	0.65389	2.380000	0.81148	0.655000	0.94253	GAT		0.617	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		12	52	0	0	0	0	12	52				
ACE	1636	broad.mit.edu	37	17	61571742	61571742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:61571742C>G	ENST00000290866.4	+	22	3315	c.3291C>G	c.(3289-3291)taC>taG	p.Y1097*	ACE_ENST00000490216.2_Nonsense_Mutation_p.Y523*|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y523*|ACE_ENST00000577647.1_Nonsense_Mutation_p.Y523*|ACE_ENST00000421982.2_Nonsense_Mutation_p.Y343*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y1097*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y523*	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1097	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCTGAAGTACCAGGGCCTCT	0.552																																						uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3289-3291)TAC>TAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						71.0	57.0	62.0					17																	61571742		2203	4300	6503	SO:0001587	stop_gained	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571742C>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3291C>G	17.37:g.61571742C>G	ENSP00000290866:p.Tyr1097*					ACE_uc002jav.1_Nonsense_Mutation_p.Y523*|ACE_uc010ddv.1_Nonsense_Mutation_p.Y324*|ACE_uc010wpj.1_Nonsense_Mutation_p.Y523*|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Nonsense_Mutation_p.Y343*	p.Y1097*	NM_000789	NP_000780	P12821	ACE_HUMAN			22	3313	+			1097			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Nonsense_Mutation	SNP	ENST00000290866.4	37	c.3291C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607052	0.96626	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	.	.	.	4.76	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.0468	8.5681	0.33552	0.0:0.6881:0.0:0.3119	.	.	.	.	X	1097;1097;523;523;343	.	ENSP00000290863:Y523X	Y	+	3	2	ACE	58925474	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.215000	0.32431	0.968000	0.38212	0.313000	0.20887	TAC		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	45	0	0	0	0	4	45				
SEPT9	10801	broad.mit.edu	37	17	75484325	75484325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:75484325T>C	ENST00000427177.1	+	6	1172	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T	SEPT9_ENST00000541152.2_Missense_Mutation_p.I98T|SEPT9_ENST00000585930.1_Missense_Mutation_p.I125T|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.I342T|SEPT9_ENST00000427180.1_Missense_Mutation_p.I237T|SEPT9_ENST00000591088.1_Missense_Mutation_p.I98T|SEPT9_ENST00000588690.1_Missense_Mutation_p.I185T|SEPT9_ENST00000590294.1_Missense_Mutation_p.I331T|SEPT9_ENST00000329047.8_Missense_Mutation_p.I331T|SEPT9_ENST00000427674.2_Missense_Mutation_p.I185T|SEPT9_ENST00000449803.2_Missense_Mutation_p.I185T|SEPT9_ENST00000592951.1_Missense_Mutation_p.I98T|SEPT9_ENST00000431235.2_Missense_Mutation_p.I185T|SEPT9_ENST00000591198.1_Missense_Mutation_p.I330T	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	349	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGTGCAGATATTGAGGAGAAA	0.612																																						uc002jts.3		NA																	0				breast(2)|ovary(1)	3						c.(1045-1047)ATT>ACT		septin 9 isoform a							69.0	75.0	73.0					17																	75484325		2108	4232	6340	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	g.chr17:75484325T>C	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.1046T>C	17.37:g.75484325T>C	ENSP00000391249:p.Ile349Thr					SEPT9_uc010wtk.1_Missense_Mutation_p.I330T|SEPT9_uc002jtt.3_Missense_Mutation_p.I185T|SEPT9_uc002jtu.3_Missense_Mutation_p.I331T|SEPT9_uc002jtv.2_Missense_Mutation_p.I342T|SEPT9_uc002jtw.2_Missense_Mutation_p.I185T|SEPT9_uc010wtl.1_Missense_Mutation_p.I125T|SEPT9_uc002jty.3_Missense_Mutation_p.I98T|SEPT9_uc010wtm.1_Missense_Mutation_p.I98T|SEPT9_uc010wtn.1_Missense_Mutation_p.I98T|SEPT9_uc010dhd.2_Missense_Mutation_p.I237T	p.I349T	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		6	1172	+			349					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.1046T>C	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948981	0.73787	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.83118	2.625	0.80722	D	1	D;D;P;D;D;D	0.89917	0.985;1.0;0.918;0.998;0.998;0.999	P;D;P;D;D;D	0.83275	0.853;0.996;0.835;0.972;0.972;0.983	T	0.79286	-0.1866	10	0.87932	D	0	.	14.6611	0.68873	0.0:0.0:0.0:1.0	.	125;330;237;342;331;349	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;SEPT9_HUMAN	T	349;98;185;331;342;185;125;98;237	ENSP00000391249:I349T;ENSP00000400181:I185T;ENSP00000329161:I331T;ENSP00000405877:I342T;ENSP00000403194:I185T;ENSP00000415624:I237T	ENSP00000329161:I331T	I	+	2	0	SEPT9	72995920	1.000000	0.71417	0.884000	0.34674	0.481000	0.33189	3.383000	0.52471	1.913000	0.55393	0.440000	0.28878	ATT		0.612	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		27	42	0	0	0	0	27	42				
TMC6	11322	broad.mit.edu	37	17	76113582	76113582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76113582G>A	ENST00000590602.1	-	17	2324	c.2165C>T	c.(2164-2166)aCc>aTc	p.T722I	TMC6_ENST00000322914.3_Missense_Mutation_p.T722I|TMC6_ENST00000392467.3_Missense_Mutation_p.T722I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.T301I|TMC6_ENST00000322933.4_Missense_Mutation_p.T301I|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	722					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACAAAGAAGGTGTTTTCCAT	0.682																																						uc002juj.1		NA																	0					0						c.(2164-2166)ACC>ATC		transmembrane channel-like 6							19.0	21.0	20.0					17																	76113582		2195	4294	6489	SO:0001583	missense	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76113582G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2165C>T	17.37:g.76113582G>A	ENSP00000465261:p.Thr722Ile					TMC6_uc002jui.1_Missense_Mutation_p.T301I|TMC6_uc010dhf.1_Missense_Mutation_p.T555I|TMC6_uc002juk.2_Missense_Mutation_p.T722I|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.T722I	p.T722I	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		16	2291	-			722			Cytoplasmic (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.2165C>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324992	0.60634	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71579	-0.19;-0.19;-0.58	3.69	3.69	0.42338	.	0.314432	0.33834	N	0.004516	T	0.74397	0.3711	L	0.60455	1.87	0.38700	D	0.952979	B;P	0.49783	0.399;0.928	P;P	0.53401	0.522;0.725	T	0.77960	-0.2391	10	0.48119	T	0.1	-13.4552	12.4692	0.55777	0.0:0.1698:0.8302:0.0	.	722;301	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	I	722;722;301	ENSP00000313408:T722I;ENSP00000376260:T722I;ENSP00000313479:T301I	ENSP00000313408:T722I	T	-	2	0	TMC6	73625177	1.000000	0.71417	0.735000	0.30896	0.463000	0.32649	4.864000	0.62990	1.894000	0.54839	0.555000	0.69702	ACC		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			4	7	0	0	0	0	4	7				
USP36	57602	broad.mit.edu	37	17	76832439	76832439	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76832439T>C	ENST00000542802.3	-	3	450	c.7A>G	c.(7-9)Ata>Gta	p.I3V	USP36_ENST00000312010.6_Missense_Mutation_p.I3V|USP36_ENST00000589424.1_Missense_Mutation_p.I3V|USP36_ENST00000590546.2_Missense_Mutation_p.I3V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	3					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTATCCACTATTGGCATGGTG	0.493																																						uc002jvz.1		NA																	0				lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(7-9)ATA>GTA		ubiquitin specific peptidase 36							42.0	44.0	43.0					17																	76832439		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76832439T>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.7A>G	17.37:g.76832439T>C	ENSP00000441214:p.Ile3Val					USP36_uc002jwa.1_Missense_Mutation_p.I3V|USP36_uc002jwd.1_Missense_Mutation_p.I3V	p.I3V	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		3	332	-			3					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.7A>G	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335283	0.81801	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.11495	2.77;2.77	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.57536	1.79	0.80722	D	1	P;D	0.62365	0.91;0.991	B;P	0.55087	0.268;0.768	T	0.00320	-1.1820	10	0.46703	T	0.11	-17.5296	14.9929	0.71401	0.0:0.0:0.0:1.0	.	3;3	Q8IXW9;Q9P275-2	.;.	V	3	ENSP00000310590:I3V;ENSP00000441214:I3V	ENSP00000310590:I3V	I	-	1	0	USP36	74344034	1.000000	0.71417	0.074000	0.20217	0.985000	0.73830	5.282000	0.65615	2.196000	0.70406	0.482000	0.46254	ATA		0.493	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		23	41	0	0	0	0	23	41				
CCDC57	284001	broad.mit.edu	37	17	80146213	80146213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:80146213C>G	ENST00000389641.4	-	7	970	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CCDC57_ENST00000392343.3_Missense_Mutation_p.E312Q|CCDC57_ENST00000392347.1_Missense_Mutation_p.E312Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	312										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTCTGCAGCTCCTGCAGCTGC	0.642																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(934-936)GAG>CAG		coiled-coil domain containing 57							32.0	36.0	35.0					17																	80146213		2172	4274	6446	SO:0001583	missense	284001							g.chr17:80146213C>G	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.934G>C	17.37:g.80146213C>G	ENSP00000374292:p.Glu312Gln					CCDC57_uc002kdx.1_Missense_Mutation_p.E312Q	p.E312Q	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		8	1289	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		312			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.934G>C		.	.	.	.	.	.	.	.	.	.	C	3.887	-0.024858	0.07589	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.23552	3.06;3.06;1.9	5.54	-0.779	0.10973	.	1.451810	0.03975	N	0.292324	T	0.16342	0.0393	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.29508	0.246;0.246	B;B	0.29353	0.101;0.101	T	0.18085	-1.0348	10	0.27082	T	0.32	-2.9058	1.924	0.03313	0.1409:0.4547:0.1381:0.2662	.	312;312	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	Q	312	ENSP00000374292:E312Q;ENSP00000376158:E312Q;ENSP00000376154:E312Q	ENSP00000374292:E312Q	E	-	1	0	CCDC57	77739502	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.579000	0.23788	0.021000	0.15133	0.650000	0.86243	GAG		0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		5	12	0	0	0	0	5	12				
CD97	976	broad.mit.edu	37	19	14512333	14512333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:14512333C>T	ENST00000242786.5	+	10	1113	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L252L|CD97_ENST00000357355.3_Silent_p.L296L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	345					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCCAAGAGCCTGCCTAAAGG	0.622																																						uc002myl.2		NA																	0				ovary(3)|breast(1)	4						c.(1033-1035)CTG>TTG		CD97 antigen isoform 1 precursor							74.0	74.0	74.0					19																	14512333		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14512333C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1033C>T	19.37:g.14512333C>T						CD97_uc002mym.2_Silent_p.L296L|CD97_uc002myn.2_Silent_p.L252L	p.L345L	NM_078481	NP_510966	P48960	CD97_HUMAN			10	1156	+			345			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.1033C>T	CCDS32929.1																																																																																				0.622	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		7	51	0	0	0	0	7	51				
CD79A	973	broad.mit.edu	37	19	42383229	42383229	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:42383229G>A	ENST00000221972.3	+	2	434	c.249G>A	c.(247-249)ccG>ccA	p.P83P	CD79A_ENST00000444740.2_Silent_p.P83P	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	83	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCTTGGGCCCGGGCGAGGACC	0.602			"""O, S"""		DLBCL																																	uc002orv.2		NA		Dom	yes		19	19q13.2	973	O|S	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				ovary(2)|pancreas(1)	3						c.(247-249)CCG>CCA		CD79A antigen isoform 1 precursor							91.0	80.0	84.0					19																	42383229		2203	4300	6503	SO:0001819	synonymous_variant	973				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383229G>A	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.249G>A	19.37:g.42383229G>A						CD79A_uc002oru.2_Silent_p.P83P	p.P83P	NM_001783	NP_001774	P11912	CD79A_HUMAN			2	434	+			83			Ig-like C2-type.|Extracellular (Potential).		A0N775|Q53FB8	Silent	SNP	ENST00000221972.3	37	c.249G>A	CCDS12589.1																																																																																				0.602	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			6	100	0	0	0	0	6	100				
NLRP8	126205	broad.mit.edu	37	19	56459551	56459551	+	Nonsense_Mutation	SNP	C	C	T	rs145469757	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:56459551C>T	ENST00000291971.3	+	1	354	c.283C>T	c.(283-285)Cga>Tga	p.R95*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.R95*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R95*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTCCCTGGACGACGCGCTTG	0.512																																						uc002qmh.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(283-285)CGA>TGA		NLR family, pyrin domain containing 8		C	stop/ARG	0,4406		0,0,2203	113.0	105.0	107.0		283	-0.3	0.0	19	dbSNP_134	107	8,8592	7.1+/-27.0	0,8,4292	yes	stop-gained	NLRP8	NM_176811.2		0,8,6495	TT,TC,CC		0.093,0.0,0.0615		95/1049	56459551	8,12998	2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56459551C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.283C>T	19.37:g.56459551C>T	ENSP00000291971:p.Arg95*					NLRP8_uc010etg.2_Nonsense_Mutation_p.R95*	p.R95*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	354	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	95			DAPIN.		Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.283C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760673	0.69763	0.0	9.3E-4	ENSG00000179709	ENST00000291971	.	.	.	2.05	-0.29	0.12847	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	2.5012	0.04634	0.2888:0.5333:0.0:0.178	.	.	.	.	X	95	.	ENSP00000291971:R95X	R	+	1	2	NLRP8	61151363	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	-0.237000	0.08990	0.007000	0.14760	0.514000	0.50259	CGA		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	26	0	0	0	0	13	26				
PEG3	5178	broad.mit.edu	37	19	57335633	57335633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:57335633C>T	ENST00000326441.9	-	4	754	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	ZIM2_ENST00000593931.1_Missense_Mutation_p.E5K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E5K|ZIM2_ENST00000391708.3_Missense_Mutation_p.E5K|PEG3_ENST00000423103.2_Missense_Mutation_p.E131K|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000601070.1_Missense_Mutation_p.E5K|PEG3_ENST00000598410.1_Missense_Mutation_p.E5K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E5K|PEG3_ENST00000593695.1_Missense_Mutation_p.E5K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E5K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	131					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCACCTTCTGGTTGGTAC	0.547																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(391-393)GAA>AAA		paternally expressed 3 isoform 1							102.0	89.0	93.0					19																	57335633		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335633C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.391G>A	19.37:g.57335633C>T	ENSP00000326581:p.Glu131Lys					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.E5K|ZIM2_uc002qnq.2_Missense_Mutation_p.E5K|ZIM2_uc010etp.2_Missense_Mutation_p.E5K|ZIM2_uc010ygs.1_Missense_Mutation_p.E5K|PEG3_uc002qnt.2_Missense_Mutation_p.E131K|PEG3_uc002qnv.2_Missense_Mutation_p.E131K|PEG3_uc002qnw.2_Missense_Mutation_p.E5K|PEG3_uc002qnx.2_Missense_Mutation_p.E5K|PEG3_uc010etr.2_Missense_Mutation_p.E131K	p.E131K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	742	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	131					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.391G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011248	0.54361	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.08458	3.09;3.09;3.68;3.68	5.04	3.99	0.46301	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.457220	0.18683	N	0.134087	T	0.07818	0.0196	L	0.34521	1.04	.	.	.	B;B;B;B	0.23937	0.079;0.094;0.094;0.079	B;B;B;B	0.23018	0.014;0.043;0.043;0.031	T	0.04678	-1.0934	9	0.87932	D	0	.	10.3336	0.43837	0.0:0.9057:0.0:0.0943	.	5;131;64;5	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	K	5;5;131;131;131	ENSP00000375589:E5K;ENSP00000221722:E5K;ENSP00000326581:E131K;ENSP00000403051:E131K	ENSP00000221722:E5K	E	-	1	0	ZIM2	62027445	0.450000	0.25697	0.785000	0.31869	0.075000	0.17131	1.071000	0.30666	1.439000	0.47511	0.650000	0.86243	GAA		0.547	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			14	102	0	0	0	0	14	102				
KCNS3	3790	broad.mit.edu	37	2	18112572	18112572	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18112572C>T	ENST00000403915.1	+	3	748	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KCNS3_ENST00000304101.4_Silent_p.F99F|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	99					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTCTCATTCTGCCAGGAGA	0.468																																						uc002rcv.2		NA																	0				ovary(4)	4						c.(295-297)TTC>TTT		potassium voltage-gated channel							116.0	118.0	117.0					2																	18112572		2203	4300	6503	SO:0001819	synonymous_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112572C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.297C>T	2.37:g.18112572C>T						KCNS3_uc002rcw.2_Silent_p.F99F	p.F99F	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	748	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		99			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	c.297C>T	CCDS1692.1																																																																																				0.468	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		37	77	0	0	0	0	37	77				
KCNS3	3790	broad.mit.edu	37	2	18113212	18113212	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18113212C>T	ENST00000403915.1	+	3	1388	c.937C>T	c.(937-939)Cta>Tta	p.L313L	KCNS3_ENST00000304101.4_Silent_p.L313L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	313					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTCGGTCTCTAGGTGCCAC	0.498																																						uc002rcv.2		NA																	0				ovary(4)	4						c.(937-939)CTA>TTA		potassium voltage-gated channel							118.0	121.0	120.0					2																	18113212		2203	4300	6503	SO:0001819	synonymous_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113212C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.937C>T	2.37:g.18113212C>T						KCNS3_uc002rcw.2_Silent_p.L313L	p.L313L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1388	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		313			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	c.937C>T	CCDS1692.1																																																																																				0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		44	103	0	0	0	0	44	103				
ZFP36L2	678	broad.mit.edu	37	2	43452849	43452849	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:43452849C>T	ENST00000282388.3	-	2	387	c.94G>A	c.(94-96)Gac>Aac	p.D32N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	32					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCTTCTTGTCCAGCATGTTG	0.642																																						uc002rsv.3		NA																	0					0						c.(94-96)GAC>AAC		zinc finger protein 36, C3H type-like 2							17.0	19.0	19.0					2																	43452849		2200	4291	6491	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452849C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.94G>A	2.37:g.43452849C>T	ENSP00000282388:p.Asp32Asn					LOC100129726_uc010ynx.1_5'Flank	p.D32N	NM_006887	NP_008818	P47974	TISD_HUMAN			2	385	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	32					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.94G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528065	0.85706	.	.	ENSG00000152518	ENST00000282388	T	0.55052	0.54	5.16	5.16	0.70880	Tis11B-like protein, N-terminal (1);	0.055793	0.64402	D	0.000001	T	0.70622	0.3245	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73607	-0.3929	10	0.72032	D	0.01	-32.045	17.4566	0.87609	0.0:1.0:0.0:0.0	.	32	P47974	TISD_HUMAN	N	32	ENSP00000282388:D32N	ENSP00000282388:D32N	D	-	1	0	ZFP36L2	43306353	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.446000	0.66600	2.400000	0.81607	0.561000	0.74099	GAC		0.642	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		7	18	0	0	0	0	7	18				
TACR1	6869	broad.mit.edu	37	2	75347732	75347732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:75347732C>T	ENST00000305249.5	-	2	1317	c.552G>A	c.(550-552)tgG>tgA	p.W184*	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Nonsense_Mutation_p.W184*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	184					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GATGCTCTGGCCATTCGATCA	0.547																																					Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2		NA																	0				ovary(1)	1						c.(550-552)TGG>TGA		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						93.0	82.0	86.0					2																	75347732		2203	4300	6503	SO:0001587	stop_gained	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75347732C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.552G>A	2.37:g.75347732C>T	ENSP00000303522:p.Trp184*					TACR1_uc002snh.2_Nonsense_Mutation_p.W184*	p.W184*	NM_001058	NP_001049	P25103	NK1R_HUMAN			2	1137	-			184			Extracellular (Potential).		A8K150	Nonsense_Mutation	SNP	ENST00000305249.5	37	c.552G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	45	12.002075	0.99626	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6312	0.88108	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000303522:W184X	W	-	3	0	TACR1	75201240	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.273000	0.78527	2.836000	0.97738	0.655000	0.94253	TGG		0.547	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		16	104	0	0	0	0	16	104				
KIAA1211L	343990	broad.mit.edu	37	2	99448936	99448936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:99448936G>A	ENST00000397899.2	-	5	746	c.415C>T	c.(415-417)Cct>Tct	p.P139S	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	139																	CCCCCTGGAGGAGGTGGTGGC	0.502																																						uc002szf.1		NA																	0					0						c.(415-417)CCT>TCT		hypothetical protein LOC343990							57.0	65.0	63.0					2																	99448936		1889	4116	6005	SO:0001583	missense	343990							g.chr2:99448936G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.415C>T	2.37:g.99448936G>A	ENSP00000380996:p.Pro139Ser						p.P139S	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			5	709	-			139						Missense_Mutation	SNP	ENST00000397899.2	37	c.415C>T	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803532	0.16467	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.46819	0.86	4.88	4.01	0.46588	.	0.000000	0.50627	D	0.000102	T	0.32734	0.0839	N	0.25485	0.75	0.25616	N	0.986453	P	0.40211	0.707	B	0.38655	0.278	T	0.14531	-1.0469	10	0.41790	T	0.15	-6.53	8.9956	0.36050	0.1674:0.0:0.8326:0.0	.	139	Q6NV74	CB055_HUMAN	S	139;167;153;153	ENSP00000380996:P139S	ENSP00000380996:P139S	P	-	1	0	C2orf55	98815368	1.000000	0.71417	0.996000	0.52242	0.235000	0.25334	1.333000	0.33816	1.278000	0.44430	-0.137000	0.14449	CCT		0.502	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		24	48	0	0	0	0	24	48				
LRP2	4036	broad.mit.edu	37	2	170009390	170009390	+	Missense_Mutation	SNP	C	C	T	rs142934522	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:170009390C>T	ENST00000263816.3	-	67	12665	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4127					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R4127H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGATTATTGCGGCCGGATTC	0.473													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		20869	0.0		0.0	False		,,,				2504	0.001					uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12379-12381)CGC>CAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	239.0	236.0	237.0		12380	-2.1	0.0	2	dbSNP_134	237	33,8567	22.8+/-68.1	1,31,4268	yes	missense	LRP2	NM_004525.2	29	1,34,6468	TT,TC,CC		0.3837,0.0681,0.2768	possibly-damaging	4127/4656	170009390	36,12970	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009390C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12380G>A	2.37:g.170009390C>T	ENSP00000263816:p.Arg4127His						p.R4127H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12593	-			4127			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12380G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.209	0.799792	0.16397	6.81E-4	0.003837	ENSG00000081479	ENST00000263816	D	0.91351	-2.83	5.59	-2.13	0.07144	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.630193	0.18293	N	0.145670	T	0.75917	0.3915	L	0.29908	0.895	0.22001	N	0.999424	P	0.49961	0.93	B	0.32928	0.155	T	0.71213	-0.4659	10	0.34782	T	0.22	.	5.0719	0.14611	0.0933:0.5419:0.1917:0.1731	.	4127	P98164	LRP2_HUMAN	H	4127	ENSP00000263816:R4127H	ENSP00000263816:R4127H	R	-	2	0	LRP2	169717636	0.003000	0.15002	0.002000	0.10522	0.271000	0.26615	0.344000	0.19962	-0.713000	0.04981	-2.018000	0.00433	CGC		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		94	245	0	0	0	0	94	245				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		39	75	0	0	0	0	39	75				
TTN	7273	broad.mit.edu	37	2	179606289	179606289	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:179606289T>G	ENST00000591111.1	-	46	10944	c.10720A>C	c.(10720-10722)Aca>Cca	p.T3574P	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T3653P|TTN_ENST00000342175.6_Missense_Mutation_p.T3720P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3891P|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3528P			Q8WZ42	TITIN_HUMAN	titin	13909	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATACATGTATACTCTCCC	0.393																																						uc010zfh.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11158-11160)ACA>CCA		titin isoform novex-2							123.0	117.0	119.0					2																	179606289		1901	4112	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606289T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10720A>C	2.37:g.179606289T>G	ENSP00000465570:p.Thr3574Pro					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3653P|TTN_uc010zfj.1_Missense_Mutation_p.T3528P|TTN_uc002umz.1_Intron	p.T3720P	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11382	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11158A>C		.	.	.	.	.	.	.	.	.	.	T	12.06	1.823259	0.32237	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.50548	0.74;0.74;0.74	6.08	4.91	0.64330	.	.	.	.	.	T	0.64472	0.2601	H	0.94886	3.595	0.24378	N	0.9948	B;B;B	0.30793	0.295;0.295;0.295	B;B;B	0.38842	0.283;0.283;0.283	T	0.63585	-0.6604	9	0.87932	D	0	.	9.6213	0.39723	0.1187:0.0:0.1245:0.7567	.	3528;3653;3720	D3DPF9;E7EQE6;E7ET18	.;.;.	P	3528;3720;3653;3528	ENSP00000434586:T3528P;ENSP00000340554:T3720P;ENSP00000352154:T3653P	ENSP00000340554:T3720P	T	-	1	0	TTN	179314534	1.000000	0.71417	0.953000	0.39169	0.953000	0.61014	5.271000	0.65553	1.095000	0.41419	0.482000	0.46254	ACA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	126	0	0	0	0	18	126				
ABCB6	10058	broad.mit.edu	37	2	220078866	220078866	+	Nonsense_Mutation	SNP	G	G	A	rs558103501		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:220078866G>A	ENST00000265316.3	-	8	1745	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.R431*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	477	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTCTCGATAGCGTTCC	0.478																																						uc002vkc.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1429-1431)CGA>TGA		ATP-binding cassette, sub-family B, member 6							153.0	139.0	144.0					2																	220078866		2203	4300	6503	SO:0001587	stop_gained	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078866G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1429C>T	2.37:g.220078866G>A	ENSP00000265316:p.Arg477*					ABCB6_uc010fwe.1_Nonsense_Mutation_p.R431*|ABCB6_uc010zku.1_RNA	p.R477*	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1706	-		Renal(207;0.0474)	477			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Nonsense_Mutation	SNP	ENST00000265316.3	37	c.1429C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	37	6.455049	0.97581	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	.	.	.	5.33	4.36	0.52297	.	0.515331	0.21083	N	0.080454	.	.	.	.	.	.	0.30275	N	0.791831	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.4145	12.6576	0.56795	0.0:0.0:0.7203:0.2797	.	.	.	.	X	477;431	.	ENSP00000265316:R477X	R	-	1	2	ABCB6	219787110	0.131000	0.22433	0.832000	0.32986	0.872000	0.50106	2.981000	0.49329	2.502000	0.84385	0.591000	0.81541	CGA		0.478	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		34	103	0	0	0	0	34	103				
DEFB127	140850	broad.mit.edu	37	20	139650	139650	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:139650G>A	ENST00000382388.3	+	2	360	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	95					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAAGCCTGAAGACACAGTCTA	0.353																																						uc002wcy.1		NA																	0					0						c.(283-285)AAG>AAA		defensin, beta 127 preproprotein							66.0	60.0	62.0					20																	139650		2203	4300	6503	SO:0001819	synonymous_variant	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:139650G>A	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.285G>A	20.37:g.139650G>A							p.K95K	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	285	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	95					Q14DW7	Silent	SNP	ENST00000382388.3	37	c.285G>A	CCDS12991.1																																																																																				0.353	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		8	30	0	0	0	0	8	30				
APMAP	57136	broad.mit.edu	37	20	24944531	24944531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:24944531T>G	ENST00000217456.2	-	9	1459	c.1169A>C	c.(1168-1170)gAg>gCg	p.E390A	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	390					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TTCGTGCACCTCGCTGATGTA	0.612																																						uc002wty.2		NA																	0				ovary(1)	1						c.(1168-1170)GAG>GCG		chromosome 20 open reading frame 3							109.0	97.0	101.0					20																	24944531		2203	4300	6503	SO:0001583	missense	57136				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity	g.chr20:24944531T>G	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.1169A>C	20.37:g.24944531T>G	ENSP00000217456:p.Glu390Ala					C20orf3_uc002wtz.2_Missense_Mutation_p.E398A|C20orf3_uc010zsw.1_3'UTR	p.E390A	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN			9	1270	-			390			Extracellular (Potential).		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	c.1169A>C	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891043	0.52014	.	.	ENSG00000101474	ENST00000217456	T	0.28666	1.6	5.01	5.01	0.66863	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.86343	2.81	0.80722	D	1	D;P	0.89917	1.0;0.584	D;B	0.83275	0.996;0.314	T	0.62469	-0.6848	10	0.37606	T	0.19	-17.7994	12.6863	0.56949	0.0:0.0:0.0:1.0	.	382;390	A2A2F9;Q9HDC9	.;APMAP_HUMAN	A	390	ENSP00000217456:E390A	ENSP00000217456:E390A	E	-	2	0	C20orf3	24892531	1.000000	0.71417	0.207000	0.23584	0.014000	0.08584	7.945000	0.87732	1.864000	0.54056	0.459000	0.35465	GAG		0.612	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		52	57	0	0	0	0	52	57				
GDF5OS	554250	broad.mit.edu	37	20	34022225	34022225	+	Nonsense_Mutation	SNP	C	C	A	rs368321679		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34022225C>A	ENST00000374375.1	+	2	711	c.269C>A	c.(268-270)tCg>tAg	p.S90*	GDF5_ENST00000374369.3_Missense_Mutation_p.D330Y|GDF5_ENST00000374372.1_Missense_Mutation_p.D330Y			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	90	Arg-rich.					mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						GCGGCGCGGTCGAAGCCCAGG	0.632																																						uc002xck.1		NA																	0					0						c.(988-990)GAC>TAC		growth differentiation factor 5 preproprotein		C	TYR/ASP	0,4404		0,0,2202	29.0	30.0	30.0		988	4.9	1.0	20		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	GDF5	NM_000557.2	160	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	330/502	34022225	1,13003	2202	4300	6502	SO:0001587	stop_gained	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022225C>A	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.269C>A	20.37:g.34022225C>A	ENSP00000363495:p.Ser90*					GDF5_uc010gfc.1_Missense_Mutation_p.D330Y|uc002xcj.2_Silent_p.V212V|GDF5_uc010zvc.1_Missense_Mutation_p.D330Y	p.D330Y	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1307	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		330					A6PVI8	Missense_Mutation	SNP	ENST00000374375.1	37	c.988G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161162|5.161162	0.94727|0.94727	0.0|0.0	1.16E-4|1.16E-4	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.66280|.	-0.2;-0.2|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Transforming growth factor-beta, N-terminal (1);|.	0.519758|.	0.20203|.	N|.	0.097054|.	T|.	0.28764|.	0.0713|.	L|L	0.29908|0.29908	0.895|0.895	0.24904|0.24904	N|N	0.992082|0.992082	B;P|.	0.35433|.	0.354;0.501|.	B;B|.	0.43386|.	0.418;0.352|.	T|.	0.14309|.	-1.0477|.	10|.	0.52906|0.37606	T|T	0.07|0.19	.|.	5.7885|5.7885	0.18347|0.18347	0.0:0.768:0.0:0.232|0.0:0.768:0.0:0.232	.|.	330;330|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	Y|X	330|90	ENSP00000363489:D330Y;ENSP00000363492:D330Y|.	ENSP00000363489:D330Y|ENSP00000363495:S90X	D|S	-|+	1|2	0|0	GDF5|GDF5OS	33485639|33485639	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.525000|0.525000	0.34531|0.34531	1.461000|1.461000	0.35255|0.35255	2.511000|2.511000	0.84671|0.84671	0.491000|0.491000	0.48974|0.48974	GAC|TCG		0.632	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			4	37	1	0	0.00024832	0.000320747	4	37				
GDF5	8200	broad.mit.edu	37	20	34025402	34025402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34025402C>T	ENST00000374372.1	-	3	810	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	GDF5_ENST00000374369.3_Missense_Mutation_p.G103S			P43026	GDF5_HUMAN	growth differentiation factor 5	103					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTTCAGGGCCGCCCGGTCTG	0.632																																						uc002xck.1		NA																	0					0						c.(307-309)GGC>AGC		growth differentiation factor 5 preproprotein							42.0	46.0	45.0					20																	34025402		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025402C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.307G>A	20.37:g.34025402C>T	ENSP00000363492:p.Gly103Ser					GDF5_uc010gfc.1_Missense_Mutation_p.G103S|GDF5_uc010zvc.1_Missense_Mutation_p.G103S	p.G103S	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		1	626	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		103					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.307G>A	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	1.571	-0.534159	0.04082	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.26660	1.72;1.72	4.39	2.43	0.29744	.	1.900540	0.03565	N	0.227696	T	0.18923	0.0454	N	0.24115	0.695	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.001	T	0.22034	-1.0228	10	0.25106	T	0.35	.	7.3631	0.26758	0.0:0.6522:0.0:0.3478	.	103;103	F1T0J1;P43026	.;GDF5_HUMAN	S	103	ENSP00000363489:G103S;ENSP00000363492:G103S	ENSP00000363489:G103S	G	-	1	0	GDF5	33488816	0.856000	0.29760	0.997000	0.53966	0.205000	0.24178	0.997000	0.29731	0.472000	0.27344	0.313000	0.20887	GGC		0.632	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			29	46	0	0	0	0	29	46				
ZNFX1	57169	broad.mit.edu	37	20	47870298	47870298	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:47870298T>A	ENST00000396105.1	-	11	3256	c.3010A>T	c.(3010-3012)Ata>Tta	p.I1004L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.I1004L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.I1004L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1004							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTCCACTATGACAATCCTC	0.527																																						uc002xui.2		NA																	0				ovary(2)	2						c.(3010-3012)ATA>TTA		zinc finger, NFX1-type containing 1							263.0	241.0	249.0					20																	47870298		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47870298T>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3010A>T	20.37:g.47870298T>A	ENSP00000379412:p.Ile1004Leu						p.I1004L	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	3257	-			1004					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3010A>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.983595	0.93044	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	D;D;D	0.88277	-2.36;-2.36;-2.36	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	L	0.37750	1.13	0.80722	D	1	D	0.59357	0.985	P	0.61070	0.883	D	0.86058	0.1530	10	0.11485	T	0.65	-15.8072	15.2188	0.73292	0.0:0.0:0.0:1.0	.	1004	Q9P2E3	ZNFX1_HUMAN	L	1004	ENSP00000360819:I1004L;ENSP00000360817:I1004L;ENSP00000379412:I1004L	ENSP00000360817:I1004L	I	-	1	0	ZNFX1	47303705	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.049000	0.64244	2.272000	0.75746	0.459000	0.35465	ATA		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		109	213	0	0	0	0	109	213				
RBM38	55544	broad.mit.edu	37	20	55982844	55982844	+	Missense_Mutation	SNP	C	C	T	rs369246420		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:55982844C>T	ENST00000356208.5	+	4	837	c.662C>T	c.(661-663)gCg>gTg	p.A221V	RBM38_ENST00000371219.2_Missense_Mutation_p.A140V	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	221					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCAGCACCCGCGGGCACCACT	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16035	0.0		0.0	False		,,,				2504	0.0					uc010zzj.1		NA																	0					0						c.(661-663)GCG>GTG		RNA-binding region containing protein 1 isoform		C	VAL/ALA,	1,4029		0,1,2014	8.0	11.0	10.0		662,	4.1	0.2	20		10	0,8276		0,0,4138	no	missense,utr-3	RBM38	NM_017495.5,NM_183425.2	64,	0,1,6152	TT,TC,CC		0.0,0.0248,0.0081	benign,	221/240,	55982844	1,12305	2015	4138	6153	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982844C>T	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.662C>T	20.37:g.55982844C>T	ENSP00000348538:p.Ala221Val					RBM38_uc010zzk.1_3'UTR	p.A221V	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	837	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		221					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.662C>T	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450502	0.43531	2.48E-4	0.0	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.34472	1.36;1.36	5.01	4.06	0.47325	.	0.376606	0.29152	N	0.012990	T	0.33030	0.0849	L	0.57536	1.79	0.24224	N	0.995424	B	0.15473	0.013	B	0.08055	0.003	T	0.17776	-1.0358	10	0.30854	T	0.27	-6.7542	11.0374	0.47808	0.0:0.8479:0.0:0.1521	.	221	Q9H0Z9	RBM38_HUMAN	V	221;140	ENSP00000348538:A221V;ENSP00000360263:A140V	ENSP00000348538:A221V	A	+	2	0	RBM38	55416250	0.444000	0.25649	0.198000	0.23420	0.278000	0.26855	3.029000	0.49712	1.282000	0.44496	0.549000	0.68633	GCG		0.682	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		3	10	0	0	0	0	3	10				
C2CD2	25966	broad.mit.edu	37	21	43338269	43338269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:43338269G>C	ENST00000380486.3	-	5	906	c.665C>G	c.(664-666)tCt>tGt	p.S222C	C2CD2_ENST00000329623.7_Missense_Mutation_p.S67C	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	222						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGAGAGGCAGAACCAGCCAA	0.512																																						uc002yzw.2		NA																	0				ovary(1)	1						c.(664-666)TCT>TGT		C2 calcium-dependent domain containing 2 isoform							144.0	113.0	123.0					21																	43338269		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43338269G>C	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.665C>G	21.37:g.43338269G>C	ENSP00000369853:p.Ser222Cys					C2CD2_uc002yzu.2_Missense_Mutation_p.S54C|C2CD2_uc002yzv.2_Missense_Mutation_p.S67C|C2CD2_uc002yzx.1_Missense_Mutation_p.S67C	p.S222C	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			5	907	-			222					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.665C>G	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507074	0.27036	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.29917	1.58;1.55	5.19	4.31	0.51392	.	0.557022	0.19339	N	0.116682	T	0.40040	0.1101	M	0.68952	2.095	0.09310	N	1	D;D	0.63880	0.993;0.98	P;P	0.49999	0.628;0.533	T	0.32268	-0.9913	10	0.72032	D	0.01	-0.7748	9.9899	0.41865	0.0937:0.0:0.9063:0.0	.	67;222	Q6P6D1;Q9Y426	.;CU025_HUMAN	C	67;222	ENSP00000329302:S67C;ENSP00000369853:S222C	ENSP00000329302:S67C	S	-	2	0	C2CD2	42211338	0.220000	0.23631	0.009000	0.14445	0.012000	0.07955	1.914000	0.39966	1.342000	0.45619	-0.136000	0.14681	TCT		0.512	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		31	46	0	0	0	0	31	46				
C21orf58	54058	broad.mit.edu	37	21	47737162	47737162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:47737162C>G	ENST00000291691.7	-	3	1466	c.330G>C	c.(328-330)caG>caC	p.Q110H	C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.Q27H|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397679.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	110										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTTCCACGTTCTGCCGTTCTT	0.602																																						uc002zjf.2		NA																	0				pancreas(1)	1						c.(328-330)CAG>CAC		hypothetical protein LOC54058							61.0	47.0	52.0					21																	47737162		2200	4300	6500	SO:0001583	missense	54058							g.chr21:47737162C>G		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.330G>C	21.37:g.47737162C>G	ENSP00000291691:p.Gln110His					C21orf58_uc002ziz.2_Missense_Mutation_p.Q27H|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.Q27H|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	p.Q110H	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	4	1464	-	Breast(49;0.112)		110					B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	c.330G>C	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	9.438	1.087368	0.20390	.	.	ENSG00000160298	ENST00000417060;ENST00000291691;ENST00000397685	T;T;T	0.21932	1.98;1.98;1.98	4.61	2.3	0.28687	.	0.393380	0.24901	N	0.034692	T	0.09379	0.0231	N	0.14661	0.345	0.22354	N	0.999177	P;P	0.45957	0.869;0.699	B;B	0.38020	0.263;0.263	T	0.17379	-1.0371	10	0.66056	D	0.02	-15.5476	4.1479	0.10224	0.0:0.6067:0.2336:0.1597	.	110;110	P58505;P58505-2	CU058_HUMAN;.	H	72;110;27	ENSP00000402356:Q72H;ENSP00000291691:Q110H;ENSP00000380801:Q27H	ENSP00000291691:Q110H	Q	-	3	2	C21orf58	46561590	0.114000	0.22134	0.671000	0.29857	0.101000	0.19017	0.048000	0.14078	1.041000	0.40125	0.655000	0.94253	CAG		0.602	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		6	12	0	0	0	0	6	12				
PEX26	55670	broad.mit.edu	37	22	18570779	18570779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:18570779C>T	ENST00000329627.7	+	6	1062	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	PEX26_ENST00000399744.3_Missense_Mutation_p.L286F|PEX26_ENST00000428061.2_Missense_Mutation_p.L237F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	286					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCTGGCCCAGCTCTTCCGCTG	0.617																																						uc002znp.3		NA																	0				skin(1)	1						c.(856-858)CTC>TTC		peroxisome biogenesis factor 26							237.0	191.0	207.0					22																	18570779		2203	4300	6503	SO:0001583	missense	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18570779C>T	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.856C>T	22.37:g.18570779C>T	ENSP00000331106:p.Leu286Phe					TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.L286F|PEX26_uc002znt.2_Missense_Mutation_p.L237F	p.L286F	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			6	1065	+			286			Peroxisomal matrix (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	c.856C>T	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105572	0.56291	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.96491	-4.03;-4.03;-4.03	5.63	-4.09	0.03951	.	0.490148	0.17543	U	0.170460	D	0.92306	0.7559	L	0.48642	1.525	0.27687	N	0.946232	B;B	0.20052	0.041;0.013	B;B	0.23150	0.044;0.025	D	0.84538	0.0637	10	0.56958	D	0.05	-2.8771	10.7336	0.46111	0.1463:0.6979:0.0775:0.0783	.	237;286	F6UBB5;Q7Z412	.;PEX26_HUMAN	F	286;286;237;286	ENSP00000331106:L286F;ENSP00000382648:L286F;ENSP00000412441:L237F	ENSP00000331106:L286F	L	+	1	0	PEX26	16950779	0.828000	0.29307	0.988000	0.46212	0.980000	0.70556	-0.431000	0.06965	-0.314000	0.08716	0.555000	0.69702	CTC		0.617	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		98	192	0	0	0	0	98	192				
GSTT1	2952	broad.mit.edu	37	22	24379500	24379500	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:24379500A>G	ENST00000248935.5	-	3	264	c.212T>C	c.(211-213)cTg>cCg	p.L71P	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		71	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	CAGGTAGAGCAGGATGGCCAC	0.537									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													uc002zze.3		NA																	0				ovary(1)	1						c.(211-213)CTG>CCG		glutathione S-transferase theta 1	Glutathione(DB00143)						57.0	49.0	52.0					22																	24379500		1691	3604	5295	SO:0001583	missense	2952	Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24379500A>G																												ENST00000248935.5:c.212T>C	22.37:g.24379500A>G	ENSP00000248935:p.Leu71Pro					GSTT1_uc002zzf.3_Intron|GSTT1_uc010gug.2_Intron|GSTT1_uc011ajl.1_5'UTR|GSTT1_uc010guh.2_Intron	p.L71P	NM_000853	NP_000844	P30711	GSTT1_HUMAN			3	265	-			71			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	37	c.212T>C	CCDS13822.1	.	.	.	.	.	.	.	.	.	.	.	19.25	3.790606	0.70452	.	.	ENSG00000184674	ENST00000248935	T	0.08370	3.1	5.04	5.04	0.67666	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000002	T	0.41282	0.1152	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58075	-0.7700	9	.	.	.	-12.2307	13.0775	0.59095	1.0:0.0:0.0:0.0	.	71	P30711	GSTT1_HUMAN	P	71	ENSP00000248935:L71P	.	L	-	2	0	GSTT1	22709500	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.168000	0.89670	2.057000	0.61298	0.486000	0.48141	CTG		0.537	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			16	72	0	0	0	0	16	72				
APOL1	8542	broad.mit.edu	37	22	36657700	36657700	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:36657700G>A	ENST00000397278.3	+	5	475	c.246G>A	c.(244-246)caG>caA	p.Q82Q	APOL1_ENST00000426053.1_Silent_p.Q64Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000319136.4_Silent_p.Q98Q|APOL1_ENST00000422706.1_Silent_p.Q82Q|APOL1_ENST00000397279.4_Silent_p.Q82Q|APOL1_ENST00000347595.7_5'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	82					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TGAGCACACAGAATCTGCTAC	0.473																																						uc003apf.2		NA																	0				breast(2)|ovary(1)	3						c.(244-246)CAG>CAA		apolipoprotein L1 isoform a precursor							119.0	108.0	111.0					22																	36657700		2203	4300	6503	SO:0001819	synonymous_variant	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36657700G>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.246G>A	22.37:g.36657700G>A						APOL1_uc011amn.1_5'UTR|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.Q98Q|APOL1_uc011amo.1_5'UTR|APOL1_uc011amp.1_Silent_p.Q82Q|APOL1_uc011amq.1_Silent_p.Q64Q|APOL1_uc010gwx.2_5'UTR	p.Q82Q	NM_003661	NP_003652	O14791	APOL1_HUMAN			5	414	+			82					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	37	c.246G>A	CCDS13926.1																																																																																				0.473	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		18	58	0	0	0	0	18	58				
NAGA	4668	broad.mit.edu	37	22	42463795	42463795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:42463795G>C	ENST00000396398.3	-	3	830	c.298C>G	c.(298-300)Cat>Gat	p.H100D	NAGA_ENST00000403363.1_Missense_Mutation_p.H100D|NAGA_ENST00000402937.1_Missense_Mutation_p.H100D	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	100					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGAATGCCATGAGGGAAGCGC	0.607																																						uc003bbx.2		NA																	0				central_nervous_system(1)	1						c.(298-300)CAT>GAT		alpha-N-acetylgalactosaminidase precursor							119.0	100.0	107.0					22																	42463795		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42463795G>C		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.298C>G	22.37:g.42463795G>C	ENSP00000379680:p.His100Asp					NAGA_uc003bby.2_Missense_Mutation_p.H100D|NAGA_uc003bbw.3_Missense_Mutation_p.H100D	p.H100D	NM_000262	NP_000253	P17050	NAGAB_HUMAN			4	435	-			100						Missense_Mutation	SNP	ENST00000396398.3	37	c.298C>G	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976531	0.18736	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	T;T;T	0.80304	-1.36;-1.36;-1.36	4.66	1.32	0.21799	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.537638	0.21216	N	0.078232	T	0.62085	0.2399	N	0.04245	-0.25	0.22280	N	0.999232	B	0.11235	0.004	B	0.20767	0.031	T	0.49082	-0.8976	10	0.33141	T	0.24	-2.9134	15.2521	0.73556	0.0:0.0:0.6648:0.3352	.	100	P17050	NAGAB_HUMAN	D	100	ENSP00000379680:H100D;ENSP00000385283:H100D;ENSP00000384603:H100D	ENSP00000379680:H100D	H	-	1	0	NAGA	40793741	0.417000	0.25432	0.614000	0.29051	0.967000	0.64934	0.694000	0.25512	0.095000	0.17434	0.561000	0.74099	CAT		0.607	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			17	99	0	0	0	0	17	99				
FAM19A5	25817	broad.mit.edu	37	22	49042418	49042418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:49042418C>T	ENST00000402357.1	+	2	255	c.122C>T	c.(121-123)gCc>gTc	p.A41V	FAM19A5_ENST00000358295.5_Missense_Mutation_p.A34V|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	41						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGTCAGCTGGCCGCCGGCACC	0.677																																						uc003bim.3		NA																	0				large_intestine(1)	1						c.(121-123)GCC>GTC		family with sequence similarity 19 (chemokine							30.0	37.0	35.0					22																	49042418		2104	4242	6346	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042418C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.122C>T	22.37:g.49042418C>T	ENSP00000383933:p.Ala41Val					FAM19A5_uc003bio.3_Missense_Mutation_p.A34V	p.A41V	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	239	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	41					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.122C>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210812	0.79240	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.63640	0.2528	L	0.56769	1.78	0.80722	D	1	D;P	0.55605	0.972;0.576	P;B	0.48840	0.592;0.178	T	0.69194	-0.5209	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	34;41	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	V	41;41;34	.	ENSP00000336812:A41V	A	+	2	0	FAM19A5	47428854	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.310000	0.65780	2.417000	0.82017	0.655000	0.94253	GCC		0.677	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		21	47	0	0	0	0	21	47				
SETD5	55209	broad.mit.edu	37	3	9488977	9488977	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:9488977T>C	ENST00000406341.1	+	13	1958	c.1768T>C	c.(1768-1770)Tct>Cct	p.S590P	SETD5_ENST00000402198.1_Missense_Mutation_p.S590P|SETD5_ENST00000402466.1_Missense_Mutation_p.S492P|SETD5_ENST00000302463.6_Missense_Mutation_p.S492P|SETD5_ENST00000407969.1_Missense_Mutation_p.S609P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	590										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACCCGGAGGTCTTCCCAAGC	0.423																																						uc003brt.2		NA																	0				ovary(2)	2						c.(1768-1770)TCT>CCT		SET domain containing 5							131.0	131.0	131.0					3																	9488977		1854	4087	5941	SO:0001583	missense	55209							g.chr3:9488977T>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1768T>C	3.37:g.9488977T>C	ENSP00000383939:p.Ser590Pro					SETD5_uc003brs.1_Missense_Mutation_p.S571P|SETD5_uc003bru.2_Missense_Mutation_p.S492P|SETD5_uc003brv.2_Missense_Mutation_p.S479P|SETD5_uc010hck.2_Missense_Mutation_p.S72P|SETD5_uc003brx.2_Missense_Mutation_p.S259P	p.S590P	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	14	2203	+	Medulloblastoma(99;0.227)		590					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1768T>C	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.449022|4.449022	0.84101|0.84101	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.93247|.	-2.84;-3.19;-2.84;-2.84;-3.19|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.057657|.	0.64402|.	D|.	0.000001|.	T|T	0.68760|0.68760	0.3036|0.3036	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.99998|0.99998	D;D;D;D|.	0.89917|.	1.0;0.999;0.995;0.995|.	D;D;D;D|.	0.87578|.	0.998;0.994;0.979;0.979|.	T|T	0.67181|0.67181	-0.5735|-0.5735	10|5	0.72032|.	D|.	0.01|.	-12.8776|-12.8776	14.4955|14.4955	0.67683|0.67683	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259;492;590;609|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	P|A	590;492;590;609;492|257	ENSP00000385852:S590P;ENSP00000384429:S492P;ENSP00000383939:S590P;ENSP00000384114:S609P;ENSP00000302028:S492P|.	ENSP00000302028:S492P|.	S|V	+|+	1|2	0|0	SETD5|SETD5	9463977|9463977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.842000|5.842000	0.69417|0.69417	2.149000|2.149000	0.67028|0.67028	0.528000|0.528000	0.53228|0.53228	TCT|GTC		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		48	106	0	0	0	0	48	106				
HACL1	26061	broad.mit.edu	37	3	15642612	15642612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:15642612C>G	ENST00000321169.5	-	2	538	c.171G>C	c.(169-171)atG>atC	p.M57I	BTD_ENST00000449107.1_5'Flank|HACL1_ENST00000456194.2_Missense_Mutation_p.M57I|BTD_ENST00000383778.4_5'Flank|BTD_ENST00000437172.1_5'Flank|HACL1_ENST00000435217.2_Missense_Mutation_p.M57I|HACL1_ENST00000457447.2_Missense_Mutation_p.M57I|BTD_ENST00000303498.5_5'Flank|HACL1_ENST00000451445.2_Missense_Mutation_p.M57I	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	57					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCTCATTCCTCATCCCGATGT	0.507																																						uc003caf.2		NA																	0					0						c.(169-171)ATG>ATC		2-hydroxyphytanoyl-CoA lyase							135.0	121.0	126.0					3																	15642612		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15642612C>G	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.171G>C	3.37:g.15642612C>G	ENSP00000323811:p.Met57Ile					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M57I|HACL1_uc011avt.1_Missense_Mutation_p.M57I|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M57I|HACL1_uc010hep.2_Missense_Mutation_p.M57I|BTD_uc011avv.1_5'Flank|BTD_uc003cah.2_5'Flank|BTD_uc011avw.1_5'Flank|BTD_uc011avx.1_5'Flank	p.M57I	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			2	331	-			57					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.171G>C	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765721	0.90020	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993;ENST00000414979	T;T;T;T;T	0.46451	1.57;0.87;1.52;1.49;0.96	5.53	5.53	0.82687	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	M	0.77406	2.37	0.58432	D	0.999999	P;D;D;D;D	0.63880	0.953;0.993;0.993;0.963;0.988	D;D;D;D;D	0.69824	0.914;0.963;0.963;0.966;0.933	T	0.69907	-0.5018	10	0.72032	D	0.01	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	57;57;57;57;57	B4DXI5;E9PEN4;B4DWI1;B3KPX4;Q9UJ83	.;.;.;.;HACL1_HUMAN	I	57	ENSP00000323811:M57I;ENSP00000395278:M57I;ENSP00000403656:M57I;ENSP00000390699:M57I;ENSP00000404883:M57I	ENSP00000323811:M57I	M	-	3	0	HACL1	15617616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.711000	0.54868	2.611000	0.88343	0.561000	0.74099	ATG		0.507	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		8	24	0	0	0	0	8	24				
DAG1	1605	broad.mit.edu	37	3	49570156	49570156	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:49570156G>C	ENST00000539901.1	+	3	2770	c.2212G>C	c.(2212-2214)Gac>Cac	p.D738H	DAG1_ENST00000545947.1_Missense_Mutation_p.D738H|DAG1_ENST00000541308.1_Missense_Mutation_p.D738H|DAG1_ENST00000308775.2_Missense_Mutation_p.D738H|DAG1_ENST00000515359.2_Missense_Mutation_p.D738H|DAG1_ENST00000538711.1_Missense_Mutation_p.D738H	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGAAGTGCCTGACAGGGACCC	0.592																																						uc003cxc.3		NA																	0				ovary(2)	2						c.(2212-2214)GAC>CAC		dystroglycan 1 preproprotein							44.0	45.0	44.0					3																	49570156		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570156G>C	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2212G>C	3.37:g.49570156G>C	ENSP00000439334:p.Asp738His						p.D738H	NM_004393	NP_004384	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	2630	+			738			Extracellular (Potential).		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2212G>C	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550467	0.45383	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.58	5.58	0.84498	.	0.251046	0.45606	D	0.000344	T	0.58047	0.2095	L	0.42245	1.32	0.26699	N	0.971207	D	0.67145	0.996	D	0.63488	0.915	T	0.52823	-0.8524	9	.	.	.	-16.3379	14.6099	0.68510	0.0:0.1467:0.8533:0.0	.	738	Q14118	DAG1_HUMAN	H	738	ENSP00000440705:D738H;ENSP00000312435:D738H;ENSP00000442600:D738H;ENSP00000440590:D738H;ENSP00000439334:D738H;ENSP00000438421:D738H	.	D	+	1	0	DAG1	49545160	0.993000	0.37304	0.989000	0.46669	0.845000	0.48019	5.444000	0.66587	2.615000	0.88500	0.650000	0.86243	GAC		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			6	18	0	0	0	0	6	18				
DENND6A	201627	broad.mit.edu	37	3	57616485	57616485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:57616485G>C	ENST00000311128.5	-	17	1544	c.1474C>G	c.(1474-1476)Cag>Gag	p.Q492E	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	492					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGGTTAGCTGAGGTCCTGTT	0.353																																						uc003dja.2		NA																	0				pancreas(1)	1						c.(1474-1476)CAG>GAG		hypothetical protein LOC201627							92.0	89.0	90.0					3																	57616485		2203	4300	6503	SO:0001583	missense	201627							g.chr3:57616485G>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1474C>G	3.37:g.57616485G>C	ENSP00000311401:p.Gln492Glu						p.Q492E	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	17	1545	-			492					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1474C>G	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.664232|4.664232	0.88251|0.88251	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85186|.	0.5639|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.75484|.	0.986|.	D|.	0.86029|.	0.1512|.	9|.	0.33940|.	T|.	0.23|.	-29.9363|-29.9363	20.3593|20.3593	0.98849|0.98849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	492|.	Q8IWF6|.	F116A_HUMAN|.	E|X	492|63	.|.	ENSP00000311401:Q492E|.	Q|S	-|-	1|2	0|0	FAM116A|FAM116A	57591525|57591525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.353	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		10	25	0	0	0	0	10	25				
ATP6V1A	523	broad.mit.edu	37	3	113497631	113497631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:113497631G>A	ENST00000273398.3	+	2	139	c.31G>A	c.(31-33)Gat>Aat	p.D11N	ATP6V1A_ENST00000538620.1_De_novo_Start_InFrame	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	11					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CAAAATACTCGATGAAGATAA	0.299																																						uc003eao.2		NA																	0				ovary(2)|skin(1)	3						c.(31-33)GAT>AAT		ATPase, H+ transporting, lysosomal V1 subunit A							67.0	69.0	68.0					3																	113497631		2203	4298	6501	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113497631G>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.31G>A	3.37:g.113497631G>A	ENSP00000273398:p.Asp11Asn					ATP6V1A_uc011bik.1_5'UTR	p.D11N	NM_001690	NP_001681	P38606	VATA_HUMAN			2	97	+			11					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.31G>A	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131411	0.77549	.	.	ENSG00000114573	ENST00000273398;ENST00000475322	D	0.86769	-2.17	5.36	5.36	0.76844	ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	L	0.37800	1.135	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.79042	-0.1965	10	0.54805	T	0.06	-24.038	19.089	0.93219	0.0:0.0:1.0:0.0	.	11	P38606	VATA_HUMAN	N	11	ENSP00000273398:D11N	ENSP00000273398:D11N	D	+	1	0	ATP6V1A	114980321	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	6.225000	0.72271	2.515000	0.84797	0.591000	0.81541	GAT		0.299	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		5	34	0	0	0	0	5	34				
FBXO40	51725	broad.mit.edu	37	3	121340738	121340738	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:121340738T>C	ENST00000338040.4	+	3	876	c.462T>C	c.(460-462)acT>acC	p.T154T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	154					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGAGGCTACTGAGGAGGAAC	0.507																																						uc003eeg.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(460-462)ACT>ACC		F-box protein 40							78.0	84.0	82.0					3																	121340738		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340738T>C	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.462T>C	3.37:g.121340738T>C							p.T154T	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	672	+			154					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.462T>C	CCDS33835.1																																																																																				0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		24	23	0	0	0	0	24	23				
MYLK	4638	broad.mit.edu	37	3	123452859	123452859	+	Silent	SNP	C	C	T	rs115018449	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:123452859C>T	ENST00000475616.1	-	7	983	c.984G>A	c.(982-984)tcG>tcA	p.S328S	MYLK_ENST00000360304.3_Silent_p.S328S|MYLK_ENST00000346322.5_Silent_p.S328S|MYLK_ENST00000360772.3_Silent_p.S328S|MYLK_ENST00000359169.1_Silent_p.S328S			Q15746	MYLK_HUMAN	myosin light chain kinase	328					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTTCTGGGCGAGTCCTTGC	0.647													C|||	12	0.00239617	0.0091	0.0	5008	,	,		14936	0.0		0.0	False		,,,				2504	0.0					uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(982-984)TCG>TCA		myosin light chain kinase isoform 1		C	,,,	42,4364	43.1+/-76.7	0,42,2161	47.0	51.0	49.0		984,984,984,984	-10.9	0.0	3	dbSNP_132	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,42,6461	TT,TC,CC		0.0,0.9532,0.3229	,,,	328/1915,328/1846,328/1864,328/1795	123452859	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452859C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.984G>A	3.37:g.123452859C>T						MYLK_uc011bjw.1_Silent_p.S328S|MYLK_uc003egp.2_Silent_p.S328S|MYLK_uc003egq.2_Silent_p.S328S|MYLK_uc003egr.2_Silent_p.S328S|MYLK_uc003egs.2_Silent_p.S152S	p.S328S	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1266	-		Lung NSC(201;0.0496)	328					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.984G>A	CCDS46896.1																																																																																				0.647	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		17	110	0	0	0	0	17	110				
HPS3	84343	broad.mit.edu	37	3	148880010	148880010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:148880010G>A	ENST00000296051.2	+	12	2322	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	HPS3_ENST00000460120.1_Missense_Mutation_p.E563K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	728					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTTCCAACCGAGCTTGCACT	0.428									Hermansky-Pudlak syndrome																													uc003ewu.1		NA																	0				ovary(5)|large_intestine(1)	6						c.(2182-2184)GAG>AAG		Hermansky-Pudlak syndrome 3 protein							135.0	128.0	130.0					3																	148880010		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880010G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2182G>A	3.37:g.148880010G>A	ENSP00000296051:p.Glu728Lys					HPS3_uc011bnq.1_Missense_Mutation_p.E563K|HPS3_uc003ewv.1_RNA	p.E728K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2322	+			728					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2182G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412573	0.42817	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64991	-0.13;-0.13	6.04	4.21	0.49690	.	0.473639	0.23466	N	0.047876	T	0.49355	0.1552	L	0.51422	1.61	0.09310	N	1	B;B	0.31351	0.32;0.094	B;B	0.23852	0.049;0.03	T	0.30592	-0.9973	10	0.10636	T	0.68	-8.9996	11.0999	0.48168	0.065:0.2359:0.6991:0.0	.	563;728	G5E9V4;Q969F9	.;HPS3_HUMAN	K	728;563	ENSP00000296051:E728K;ENSP00000418230:E563K	ENSP00000296051:E728K	E	+	1	0	HPS3	150362700	0.587000	0.26791	0.088000	0.20740	0.946000	0.59487	2.656000	0.46716	0.840000	0.34995	0.563000	0.77884	GAG		0.428	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		15	88	0	0	0	0	15	88				
SLC7A14	57709	broad.mit.edu	37	3	170198315	170198315	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:170198315C>A	ENST00000231706.5	-	7	2071	c.1756G>T	c.(1756-1758)Ggt>Tgt	p.G586C	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	586					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TAGTCAGAACCAAAGATGATG	0.552																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1756-1758)GGT>TGT		solute carrier family 7 (cationic amino acid							78.0	73.0	75.0					3																	170198315		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198315C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1756G>T	3.37:g.170198315C>A	ENSP00000231706:p.Gly586Cys					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.G586C	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2072	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		586					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1756G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311813	0.81358	.	.	ENSG00000013293	ENST00000231706	D	0.89485	-2.52	5.6	5.6	0.85130	.	0.149347	0.64402	D	0.000010	D	0.92506	0.7620	L	0.61218	1.895	0.80722	D	1	D	0.58970	0.984	P	0.57425	0.82	D	0.91606	0.5299	10	0.42905	T	0.14	.	19.6072	0.95585	0.0:1.0:0.0:0.0	.	586	Q8TBB6	S7A14_HUMAN	C	586	ENSP00000231706:G586C	ENSP00000231706:G586C	G	-	1	0	SLC7A14	171681009	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	GGT		0.552	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		12	56	1	0	0.00010058	0.000130304	12	56				
CCDC39	339829	broad.mit.edu	37	3	180359892	180359892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:180359892C>A	ENST00000442201.2	-	13	1882	c.1763G>T	c.(1762-1764)aGa>aTa	p.R588I	CCDC39_ENST00000273654.4_Missense_Mutation_p.R672I	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	588					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGCTGTTTTCTTTTTTCTAG	0.358																																						uc010hxe.2		NA																	0				ovary(4)	4						c.(1762-1764)AGA>ATA		coiled-coil domain containing 39							146.0	133.0	137.0					3																	180359892		1837	4087	5924	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359892C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1763G>T	3.37:g.180359892C>A	ENSP00000405708:p.Arg588Ile					CCDC39_uc003fkn.2_RNA	p.R588I	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1878	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		588			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1763G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707726	0.48412	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	4.79	2.97	0.34412	.	0.049387	0.85682	D	0.000000	T	0.76133	0.3945	M	0.83953	2.67	0.49483	D	0.999799	D	0.89917	1.0	D	0.72338	0.977	T	0.76908	-0.2785	9	0.72032	D	0.01	-11.0289	7.5254	0.27652	0.0:0.7014:0.0:0.2986	.	588	Q9UFE4	CCD39_HUMAN	I	672;588	.	ENSP00000273654:R672I	R	-	2	0	CCDC39	181842586	1.000000	0.71417	0.999000	0.59377	0.432000	0.31715	1.418000	0.34782	1.145000	0.42336	-0.233000	0.12211	AGA		0.358	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		30	87	1	0	9.81e-20	1.37e-19	30	87				
ABCC5	10057	broad.mit.edu	37	3	183707056	183707056	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:183707056T>C	ENST00000334444.6	-	3	485	c.245A>G	c.(244-246)cAt>cGt	p.H82R	ABCC5_ENST00000392579.2_Missense_Mutation_p.H82R|ABCC5_ENST00000427120.2_Missense_Mutation_p.H82R|ABCC5_ENST00000382494.2_Missense_Mutation_p.H82R|ABCC5_ENST00000265586.6_Missense_Mutation_p.H82R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	82					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CAAGCCATGATGGTACTTTCC	0.502																																						uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(244-246)CAT>CGT		ATP-binding cassette, sub-family C, member 5							74.0	68.0	70.0					3																	183707056		2203	4300	6503	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183707056T>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.245A>G	3.37:g.183707056T>C	ENSP00000333926:p.His82Arg					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.H82R|ABCC5_uc003fmh.2_Missense_Mutation_p.H82R|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.H82R|ABCC5_uc010hxo.2_Missense_Mutation_p.H82R	p.H82R	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		3	410	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		82					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.245A>G	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952468	0.34471	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494;ENST00000437341	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.6	5.6	0.85130	.	0.056107	0.64402	D	0.000001	T	0.40767	0.1130	L	0.43152	1.355	0.53005	D	0.999963	P;P;B;B;B	0.34412	0.453;0.453;0.006;0.222;0.003	B;B;B;B;B	0.33890	0.159;0.159;0.017;0.172;0.004	T	0.21552	-1.0242	10	0.17832	T	0.49	-13.9951	15.7859	0.78304	0.0:0.0:0.0:1.0	.	82;82;82;82;82	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	R	82;18;82;82;82;82;82	ENSP00000333926:H82R;ENSP00000265586:H82R;ENSP00000404809:H82R;ENSP00000376358:H82R;ENSP00000371934:H82R;ENSP00000399726:H82R	ENSP00000265586:H82R	H	-	2	0	ABCC5	185189750	1.000000	0.71417	0.989000	0.46669	0.296000	0.27459	5.284000	0.65627	2.140000	0.66376	0.533000	0.62120	CAT		0.502	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		23	54	0	0	0	0	23	54				
ATP13A3	79572	broad.mit.edu	37	3	194167697	194167697	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:194167697T>C	ENST00000439040.1	-	14	2247	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I486V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	486						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAAATATTTATTCTTTGAGGA	0.383																																						uc003fty.3		NA																	0				ovary(1)	1						c.(1456-1458)ATA>GTA		ATPase type 13A3							112.0	104.0	107.0					3																	194167697		1842	4091	5933	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194167697T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1456A>G	3.37:g.194167697T>C	ENSP00000416508:p.Ile486Val					ATP13A3_uc003ftz.1_Missense_Mutation_p.I192V	p.I486V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	13	1858	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	486					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1456A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617612	0.87359	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.87966	-2.32;-2.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	L	0.48935	1.535	0.80722	D	1	D	0.60575	0.988	D	0.64237	0.923	D	0.88110	0.2825	10	0.27785	T	0.31	-1.1858	15.0688	0.72017	0.0:0.0:0.0:1.0	.	486	Q9H7F0	AT133_HUMAN	V	486;486;224	ENSP00000416508:I486V;ENSP00000256031:I486V	ENSP00000256031:I486V	I	-	1	0	ATP13A3	195648986	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.614000	0.82996	1.941000	0.56285	0.477000	0.44152	ATA		0.383	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		51	106	0	0	0	0	51	106				
NIPAL1	152519	broad.mit.edu	37	4	48036925	48036925	+	Silent	SNP	C	C	T	rs138156539	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48036925C>T	ENST00000295461.5	+	5	555	c.489C>T	c.(487-489)aaC>aaT	p.N163N	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	163						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACTTTTTAAACGAGCACTTGA	0.383													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0					uc003gxw.2		NA																	0					0						c.(487-489)AAC>AAT		NIPA-like domain containing 1		C		9,4397	14.3+/-33.2	0,9,2194	72.0	71.0	71.0		489	1.5	1.0	4	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	NIPAL1	NM_207330.1		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		163/411	48036925	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48036925C>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.489C>T	4.37:g.48036925C>T							p.N163N	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			5	555	+			163			Cytoplasmic (Potential).		B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.489C>T	CCDS3479.1																																																																																				0.383	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		23	26	0	0	0	0	23	26				
TEC	7006	broad.mit.edu	37	4	48172263	48172263	+	Splice_Site	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48172263A>C	ENST00000381501.3	-	5	612		c.e5+1			NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATGAATACTTACTGCTCTCAA	0.318																																						uc003gxz.2		NA																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.e5+1		tec protein tyrosine kinase							64.0	72.0	69.0					4																	48172263		2200	4291	6491	SO:0001630	splice_region_variant	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48172263A>C	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.454+1T>G	4.37:g.48172263A>C							p.S152_splice	NM_003215	NP_003206	P42680	TEC_HUMAN			5	545	-								B7ZKZ6|Q3MIS5	Splice_Site	SNP	ENST00000381501.3	37	c.454_splice	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824689	0.50739	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6219	0.76813	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEC	47867020	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	7.393000	0.79851	2.085000	0.62840	0.482000	0.46254	.		0.318	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		Intron	16	50	0	0	0	0	16	50				
PPEF2	5470	broad.mit.edu	37	4	76794404	76794404	+	Missense_Mutation	SNP	C	C	T	rs372439344		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:76794404C>T	ENST00000286719.7	-	12	1738	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	461	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCTCCTCCTCGAATAGTGTT	0.458																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1381-1383)CGA>CAA		serine/threonine protein phosphatase with		C	GLN/ARG	0,4406		0,0,2203	151.0	141.0	144.0		1382	4.6	0.9	4		144	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPEF2	NM_006239.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	461/754	76794404	2,13004	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794404C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1382G>A	4.37:g.76794404C>T	ENSP00000286719:p.Arg461Gln					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R461Q	p.R461Q	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1739	-			461			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1382G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418703	0.62622	0.0	2.33E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.11277	2.79	5.5	4.63	0.57726	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	H	0.97983	4.12	0.41589	D	0.988786	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69041	-0.5250	10	0.87932	D	0	-21.2799	13.7277	0.62767	0.0:0.8443:0.1557:0.0	.	461;461	O14830-2;O14830	.;PPE2_HUMAN	Q	461	ENSP00000286719:R461Q	ENSP00000286719:R461Q	R	-	2	0	PPEF2	77013428	1.000000	0.71417	0.895000	0.35142	0.058000	0.15608	7.229000	0.78088	1.257000	0.44085	0.655000	0.94253	CGA		0.458	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		41	32	0	0	0	0	41	32				
DMP1	1758	broad.mit.edu	37	4	88583266	88583266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:88583266C>A	ENST00000339673.6	+	6	435	c.336C>A	c.(334-336)gaC>gaA	p.D112E	DMP1_ENST00000282479.7_Missense_Mutation_p.D96E|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	112					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.D112D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTGGAGATGACACCTTTGGTG	0.478																																						uc003hqv.2		NA																	1	Substitution - coding silent(1)		ovary(1)	pancreas(1)|skin(1)	2						c.(334-336)GAC>GAA		dentin matrix acidic phosphoprotein 1 isoform 1							92.0	86.0	88.0					4																	88583266		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583266C>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.336C>A	4.37:g.88583266C>A	ENSP00000340935:p.Asp112Glu					DMP1_uc003hqw.2_Missense_Mutation_p.D96E	p.D112E	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	440	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	112					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.336C>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819085	0.32145	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.58506	0.33;0.33	5.24	1.54	0.23209	.	0.000000	0.64402	D	0.000018	T	0.68210	0.2976	L	0.54323	1.7	0.41978	D	0.99078	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66019	-0.6027	10	0.72032	D	0.01	-17.2136	11.1034	0.48188	0.0:0.716:0.0:0.284	.	96;112	Q13316-2;Q13316	.;DMP1_HUMAN	E	112;96	ENSP00000340935:D112E;ENSP00000282479:D96E	ENSP00000282479:D96E	D	+	3	2	DMP1	88802290	0.987000	0.35691	0.957000	0.39632	0.044000	0.14063	0.040000	0.13905	-0.240000	0.09696	-1.644000	0.00765	GAC		0.478	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			25	20	1	0	2.4e-15	3.33e-15	25	20				
MTTP	4547	broad.mit.edu	37	4	100534246	100534246	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:100534246C>T	ENST00000265517.5	+	15	2369	c.2166C>T	c.(2164-2166)ggC>ggT	p.G722G	MTTP_ENST00000511045.1_Silent_p.G749G|MTTP_ENST00000457717.1_Silent_p.G722G|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAGCATCTGGCGACCCTATCA	0.423																																						uc003hvc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2164-2166)GGC>GGT		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						159.0	140.0	146.0					4																	100534246		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534246C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2166C>T	4.37:g.100534246C>T						MTTP_uc011cej.1_Silent_p.G749G	p.G722G	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2422	+			722					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2166C>T	CCDS3651.1																																																																																				0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			11	60	0	0	0	0	11	60				
KLHL2	11275	broad.mit.edu	37	4	166231784	166231784	+	Silent	SNP	C	C	T	rs376851950		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:166231784C>T	ENST00000226725.6	+	10	1378	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	KLHL2_ENST00000514860.1_Silent_p.Y377Y|KLHL2_ENST00000538127.1_Silent_p.Y285Y|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Silent_p.Y276Y|KLHL2_ENST00000506761.1_Silent_p.Y207Y	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	373					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TAGATTCCTACGACCCTGTGA	0.478																																						uc003irb.2		NA																	0					0						c.(1117-1119)TAC>TAT		kelch-like 2, Mayven isoform 1		C	,,	0,4406		0,0,2203	353.0	350.0	351.0		1131,855,1119	-8.7	0.6	4		351	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KLHL2	NM_001161521.1,NM_001161522.1,NM_007246.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	377/598,285/506,373/594	166231784	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166231784C>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1119C>T	4.37:g.166231784C>T						KLHL2_uc011cjm.1_Silent_p.Y377Y|KLHL2_uc003irc.2_Silent_p.Y285Y|KLHL2_uc010ira.2_Silent_p.Y26Y	p.Y373Y	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	10	1378	+	all_hematologic(180;0.221)		373			Kelch 2.		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	c.1119C>T	CCDS34094.1																																																																																				0.478	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			94	394	0	0	0	0	94	394				
SPOCK3	50859	broad.mit.edu	37	4	167675844	167675844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:167675844G>C	ENST00000357154.3	-	9	892	c.755C>G	c.(754-756)tCa>tGa	p.S252*	SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000534949.1_Nonsense_Mutation_p.S156*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.S120*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000541354.1_Nonsense_Mutation_p.S132*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.S201*|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.S209*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	252					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCAGCCAAGTGAGTCCTTGCA	0.373																																						uc003iri.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(754-756)TCA>TGA		testican 3 isoform 2							144.0	132.0	136.0					4																	167675844		2203	4300	6503	SO:0001587	stop_gained	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167675844G>C	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.755C>G	4.37:g.167675844G>C	ENSP00000349677:p.Ser252*					SPOCK3_uc011cjp.1_Nonsense_Mutation_p.S209*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.S261*|SPOCK3_uc011cjr.1_Nonsense_Mutation_p.S132*|SPOCK3_uc003irj.1_Nonsense_Mutation_p.S249*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.S201*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.S160*|SPOCK3_uc011cju.1_Nonsense_Mutation_p.S145*|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.S154*|SPOCK3_uc003irk.3_Nonsense_Mutation_p.S249*	p.S252*	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	9	896	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	252					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	37	c.755C>G	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604001	0.87157	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	.	.	.	5.64	5.64	0.86602	.	0.064498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.5937	20.0723	0.97728	0.0:0.0:1.0:0.0	.	.	.	.	X	252;249;249;252;252;252;209;132;154;249;120;201;154;156;249;131	.	ENSP00000349677:S252X	S	-	2	0	SPOCK3	167912419	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.697000	0.84279	2.819000	0.97034	0.650000	0.86243	TCA		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			16	65	0	0	0	0	16	65				
HK3	3101	broad.mit.edu	37	5	176308438	176308438	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176308438G>T	ENST00000292432.5	-	18	2583	c.2492C>A	c.(2491-2493)gCt>gAt	p.A831D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	831	Catalytic.|Hexokinase type-2 2.			A -> V (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGACACAGCCTGGCACAC	0.652																																						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2491-2493)GCT>GAT		hexokinase 3							50.0	54.0	52.0					5																	176308438		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308438G>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2492C>A	5.37:g.176308438G>T	ENSP00000292432:p.Ala831Asp					HK3_uc003mez.2_Missense_Mutation_p.A387D	p.A831D	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2584	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	831	A -> V (in Ref. 4; AAC50422).		Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2492C>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792081	0.70452	.	.	ENSG00000160883	ENST00000292432	D	0.96913	-4.17	5.35	4.48	0.54585	Hexokinase, C-terminal (1);	0.000000	0.52532	D	0.000078	D	0.98043	0.9355	M	0.86268	2.805	0.42558	D	0.993135	D	0.76494	0.999	D	0.87578	0.998	D	0.98959	1.0797	10	0.66056	D	0.02	.	13.9911	0.64367	0.0742:0.0:0.9258:0.0	.	831	P52790	HXK3_HUMAN	D	831	ENSP00000292432:A831D	ENSP00000292432:A831D	A	-	2	0	HK3	176241044	0.879000	0.30193	0.901000	0.35422	0.886000	0.51366	2.817000	0.48034	1.397000	0.46682	0.561000	0.74099	GCT		0.652	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			3	21	1	0	6.4e-05	8.34e-05	3	21				
ZNF346	23567	broad.mit.edu	37	5	176477792	176477792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176477792C>A	ENST00000358149.3	+	5	601	c.558C>A	c.(556-558)ttC>ttA	p.F186L	ZNF346_ENST00000506693.1_Missense_Mutation_p.F88L|ZNF346_ENST00000261948.4_Missense_Mutation_p.F211L|ZNF346_ENST00000511834.1_Missense_Mutation_p.F202L|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.F154L|ZNF346_ENST00000503039.1_Missense_Mutation_p.F211L	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	186					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F186L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACAAGTTCTGCAGCCTCT	0.478																																						uc003mfi.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(556-558)TTC>TTA		zinc finger protein 346							112.0	105.0	107.0					5																	176477792		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477792C>A	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.558C>A	5.37:g.176477792C>A	ENSP00000350869:p.Phe186Leu					ZNF346_uc011dfr.1_Missense_Mutation_p.F154L|ZNF346_uc011dfs.1_Missense_Mutation_p.F88L|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.F211L|ZNF346_uc011dft.1_Intron	p.F186L	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	601	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	186			Matrin-type 3.		B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.558C>A	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219181	0.95104	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.044446	0.85682	D	0.000000	T	0.42585	0.1209	M	0.68952	2.095	0.58432	D	0.999996	P;D;D;P	0.57899	0.908;0.973;0.981;0.855	P;P;P;P	0.57776	0.676;0.827;0.734;0.455	T	0.15896	-1.0421	10	0.46703	T	0.11	.	19.3255	0.94260	0.0:1.0:0.0:0.0	.	88;154;211;186	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	L	186;88;154;211;202;211	ENSP00000350869:F186L;ENSP00000423515:F88L;ENSP00000421212:F154L;ENSP00000261948:F211L;ENSP00000425725:F202L;ENSP00000424495:F211L	ENSP00000261948:F211L	F	+	3	2	ZNF346	176410398	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.217000	0.65252	2.544000	0.85801	0.655000	0.94253	TTC		0.478	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		13	44	1	0	1.5e-05	1.98e-05	13	44				
TBC1D9B	23061	broad.mit.edu	37	5	179294796	179294796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:179294796C>T	ENST00000356834.3	-	18	2882	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E125K|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E949K|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E107K|TBC1D9B_ENST00000518085.1_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	949						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)			GAGCTGTCCTCTGTGAAATAA	0.632																																						uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(2845-2847)GAG>AAG		TBC1 domain family, member 9B (with GRAM domain)							68.0	64.0	66.0					5																	179294796		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179294796C>T	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.2845G>A	5.37:g.179294796C>T	ENSP00000349291:p.Glu949Lys					TBC1D9B_uc003mli.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E125K|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E125K|TBC1D9B_uc011dgw.1_Missense_Mutation_p.E125K	p.E949K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2882	-	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)	949					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2845G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043301	0.75732	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.39056	2.94;2.97;1.1;1.35	5.39	4.52	0.55395	.	0.257134	0.37669	N	0.001987	T	0.45756	0.1358	M	0.80847	2.515	0.58432	D	0.999999	P;B;B;B;B	0.42375	0.778;0.026;0.017;0.01;0.007	B;B;B;B;B	0.37989	0.262;0.03;0.067;0.03;0.019	T	0.51395	-0.8711	10	0.40728	T	0.16	-23.3636	14.2261	0.65860	0.0:0.9278:0.0:0.0722	.	125;949;949;949;165	B4E3K0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;TBC9B_HUMAN;.	K	949;949;125;107	ENSP00000349291:E949K;ENSP00000347375:E949K;ENSP00000430293:E125K;ENSP00000401585:E107K	ENSP00000347375:E949K	E	-	1	0	TBC1D9B	179227402	0.999000	0.42202	0.930000	0.37139	0.955000	0.61496	4.196000	0.58407	1.271000	0.44313	0.484000	0.47621	GAG		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		8	15	0	0	0	0	8	15				
MEP1A	4224	broad.mit.edu	37	6	46801214	46801214	+	Missense_Mutation	SNP	T	T	A	rs142787710	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:46801214T>A	ENST00000230588.4	+	11	1557	c.1548T>A	c.(1546-1548)gaT>gaA	p.D516E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	516	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGAGCCTGATGTCCGGAACA	0.517													T|||	9	0.00179712	0.0	0.0014	5008	,	,		19400	0.0		0.006	False		,,,				2504	0.002					uc010jzh.1		NA																	0				pancreas(2)|ovary(1)	3						c.(1546-1548)GAT>GAA		meprin A alpha precursor		T	GLU/ASP	4,4402	8.1+/-20.4	0,4,2199	130.0	134.0	133.0		1548	1.7	0.0	6	dbSNP_134	133	52,8548	32.8+/-85.7	0,52,4248	no	missense	MEP1A	NM_005588.2	45	0,56,6447	AA,AT,TT		0.6047,0.0908,0.4306	probably-damaging	516/747	46801214	56,12950	2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46801214T>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1548T>A	6.37:g.46801214T>A	ENSP00000230588:p.Asp516Glu					MEP1A_uc011dwg.1_Missense_Mutation_p.D238E|MEP1A_uc011dwh.1_Missense_Mutation_p.D544E|MEP1A_uc011dwi.1_Missense_Mutation_p.D416E	p.D516E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1590	+			516			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1548T>A	CCDS4918.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	13.20	2.167113	0.38217	9.08E-4	0.006047	ENSG00000112818	ENST00000230588	T	0.32023	1.47	5.67	1.67	0.24075	TRAF-type (1);TRAF-like (1);MATH (3);	0.089075	0.85682	D	0.000000	T	0.40767	0.1130	M	0.82056	2.57	0.51012	D	0.999909	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	T	0.41645	-0.9497	10	0.87932	D	0	-15.3681	9.3878	0.38354	0.0:0.3427:0.0:0.6573	.	544;516	B7ZL91;Q16819	.;MEP1A_HUMAN	E	516	ENSP00000230588:D516E	ENSP00000230588:D516E	D	+	3	2	MEP1A	46909173	0.021000	0.18746	0.009000	0.14445	0.002000	0.02628	-0.072000	0.11486	0.046000	0.15833	-1.062000	0.02293	GAT		0.517	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		15	141	0	0	0	0	15	141				
FAM135A	57579	broad.mit.edu	37	6	71232223	71232223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:71232223G>C	ENST00000418814.2	+	13	1651	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	FAM135A_ENST00000361499.3_Missense_Mutation_p.R346T|FAM135A_ENST00000457062.2_Missense_Mutation_p.R329T|FAM135A_ENST00000505769.1_Missense_Mutation_p.R346T|FAM135A_ENST00000505868.1_Missense_Mutation_p.R346T|FAM135A_ENST00000370479.3_Missense_Mutation_p.R329T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGGTACGCAGATTTTCTGAG	0.353																																						uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(1036-1038)AGA>ACA		hypothetical protein LOC57579 isoform c							147.0	157.0	154.0					6																	71232223		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71232223G>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1037G>C	6.37:g.71232223G>C	ENSP00000410768:p.Arg346Thr					FAM135A_uc003pfi.2_Missense_Mutation_p.R346T|FAM135A_uc003pfh.2_Missense_Mutation_p.R329T|FAM135A_uc003pfk.2_Missense_Mutation_p.R372T|FAM135A_uc003pfl.2_Missense_Mutation_p.R209T|FAM135A_uc003pfn.2_5'Flank|FAM135A_uc003pfo.1_5'Flank	p.R346T	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			11	1170	+			346					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.1037G>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795379	0.90453	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.80616	2.505	0.40887	D	0.984045	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.996;0.997;0.997	T	0.59910	-0.7365	10	0.72032	D	0.01	.	19.3352	0.94314	0.0:0.0:1.0:0.0	.	346;346;346;346;329	Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	T	346;329;346;346;329;346;346	ENSP00000410768:R346T;ENSP00000359510:R329T;ENSP00000423785:R346T;ENSP00000422406:R346T;ENSP00000409201:R329T;ENSP00000354913:R346T;ENSP00000423307:R346T	ENSP00000354913:R346T	R	+	2	0	FAM135A	71288944	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.649000	0.91067	2.572000	0.86782	0.491000	0.48974	AGA		0.353	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		24	139	0	0	0	0	24	139				
MDN1	23195	broad.mit.edu	37	6	90434920	90434920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:90434920G>A	ENST00000369393.3	-	38	5783	c.5668C>T	c.(5668-5670)Cag>Tag	p.Q1890*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1890*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1890					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTTACCTGAGTGAATCTG	0.423																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(5668-5670)CAG>TAG		MDN1, midasin homolog							136.0	129.0	131.0					6																	90434920		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90434920G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5668C>T	6.37:g.90434920G>A	ENSP00000358400:p.Gln1890*						p.Q1890*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	38	5784	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1890					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.5668C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	47	13.800895	0.99763	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	.	.	.	X	1890	.	ENSP00000358400:Q1890X	Q	-	1	0	MDN1	90491641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.837000	0.97791	0.591000	0.81541	CAG		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			18	68	0	0	0	0	18	68				
SIM1	6492	broad.mit.edu	37	6	100911241	100911241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:100911241G>A	ENST00000369208.3	-	2	886	c.104C>T	c.(103-105)tCg>tTg	p.S35L	SIM1_ENST00000262901.4_Missense_Mutation_p.S35L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	35	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGCTGCGAGGTGATAGC	0.453																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(103-105)TCG>TTG		single-minded homolog 1							169.0	162.0	165.0					6																	100911241		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911241G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.104C>T	6.37:g.100911241G>A	ENSP00000358210:p.Ser35Leu					SIM1_uc010kcu.2_Missense_Mutation_p.S35L	p.S35L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	1	311	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	35			Helix-loop-helix motif.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.104C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451012	0.96205	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	D;D	0.97941	-4.62;-4.62	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.99133	1.0853	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	35	P81133	SIM1_HUMAN	L	35	ENSP00000358210:S35L;ENSP00000262901:S35L	ENSP00000262901:S35L	S	-	2	0	SIM1	101017962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.009000	0.88606	2.941000	0.99782	0.655000	0.94253	TCG		0.453	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		15	58	0	0	0	0	15	58				
CDK19	23097	broad.mit.edu	37	6	111067348	111067348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:111067348G>A	ENST00000368911.3	-	2	364	c.185C>T	c.(184-186)tCg>tTg	p.S62L	CDK19_ENST00000323817.3_Missense_Mutation_p.S2L	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTACAAGCCGACATGGATAT	0.279																																						uc003puh.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(184-186)TCG>TTG		cell division cycle 2-like 6 (CDK8-like)							180.0	172.0	174.0					6																	111067348		2203	4299	6502	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:111067348G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.185C>T	6.37:g.111067348G>A	ENSP00000357907:p.Ser62Leu					CDK19_uc003pui.1_Missense_Mutation_p.S2L	p.S62L	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			2	258	-			62			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.185C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756241	0.89843	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000457688	T;T;T	0.66815	-0.18;-0.23;-0.16	5.95	5.95	0.96441	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	0.64402	D	0.000001	T	0.72882	0.3516	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74556	-0.3626	10	0.87932	D	0	-20.765	20.3931	0.98965	0.0:0.0:1.0:0.0	.	62	Q9BWU1	CDK19_HUMAN	L	62;2;2	ENSP00000357907:S62L;ENSP00000317665:S2L;ENSP00000415621:S2L	ENSP00000317665:S2L	S	-	2	0	CDK19	111174041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.207000	0.95064	2.824000	0.97209	0.655000	0.94253	TCG		0.279	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		9	109	0	0	0	0	9	109				
CEP85L	387119	broad.mit.edu	37	6	118887087	118887087	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:118887087C>G	ENST00000368491.3	-	3	1246	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	CEP85L_ENST00000360290.3_Missense_Mutation_p.E107Q|CEP85L_ENST00000419517.2_Missense_Mutation_p.E209Q|CEP85L_ENST00000392500.3_Missense_Mutation_p.E212Q|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.E212Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTAAGCATCTCCATACTATCA	0.413																																						uc003pxz.1		NA																	0				breast(1)	1						c.(625-627)GAG>CAG		chromosome 6 open reading frame 204 isoform a							177.0	174.0	175.0					6																	118887087		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118887087C>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.625G>C	6.37:g.118887087C>G	ENSP00000357477:p.Glu209Gln					C6orf204_uc003pya.1_Missense_Mutation_p.E212Q|C6orf204_uc003pyb.2_Missense_Mutation_p.E209Q|C6orf204_uc011ebj.1_Missense_Mutation_p.E107Q|C6orf204_uc003pyc.2_Missense_Mutation_p.E212Q|C6orf204_uc011ebl.1_Missense_Mutation_p.E107Q	p.E209Q	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1213	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	209					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.625G>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473335	0.84640	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.31769	2.83;2.83;2.25;1.98;1.48;1.98	5.86	5.86	0.93980	.	0.123185	0.56097	D	0.000035	T	0.40546	0.1121	L	0.34521	1.04	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77004	0.989;0.975;0.975;0.988;0.975	T	0.27905	-1.0060	10	0.72032	D	0.01	-21.3798	20.2019	0.98263	0.0:1.0:0.0:0.0	.	107;212;209;212;209	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	Q	209;212;212;212;107;209	ENSP00000357477:E209Q;ENSP00000357474:E212Q;ENSP00000392131:E212Q;ENSP00000376288:E212Q;ENSP00000353434:E107Q;ENSP00000393317:E209Q	ENSP00000353434:E107Q	E	-	1	0	C6orf204	118993780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.776000	0.95493	0.655000	0.94253	GAG		0.413	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		4	157	0	0	0	0	4	157				
RNF146	81847	broad.mit.edu	37	6	127607982	127607982	+	Missense_Mutation	SNP	G	G	A	rs146049752		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:127607982G>A	ENST00000368314.1	+	3	648	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.R74Q|RNF146_ENST00000608991.1_Missense_Mutation_p.R74Q|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.R75Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	75					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCTCTTTGTCGACAAGAAATT	0.443																																						uc003qav.2		NA																	0				kidney(1)	1						c.(223-225)CGA>CAA		ring finger protein 146		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	113.0	99.0	104.0		221,221,221,221,221,224,224,224,221,221	4.9	1.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	RNF146	NM_001242844.1,NM_001242845.1,NM_001242846.1,NM_001242847.1,NM_001242848.1,NM_001242849.1,NM_001242850.1,NM_001242851.1,NM_001242852.1,NM_030963.3	43,43,43,43,43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	74/359,74/359,74/359,74/359,74/359,75/360,75/360,75/360,74/359,74/359	127607982	1,13005	2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127607982G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.224G>A	6.37:g.127607982G>A	ENSP00000357297:p.Arg75Gln					RNF146_uc003qat.2_Missense_Mutation_p.R74Q|RNF146_uc003qau.2_Missense_Mutation_p.R74Q|RNF146_uc003qaw.2_Missense_Mutation_p.R74Q	p.R75Q	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	383	+			75			RING-type.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.224G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610626	0.87258	0.0	1.16E-4	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.67698	-0.28;-0.28;-0.28	5.8	4.93	0.64822	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	M	0.84511	2.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.83060	-0.0148	10	0.87932	D	0	-3.9005	14.8017	0.69922	0.069:0.0:0.931:0.0	.	75	Q9NTX7	RN146_HUMAN	Q	75;74;74	ENSP00000357297:R75Q;ENSP00000349253:R74Q;ENSP00000309365:R74Q	ENSP00000309365:R74Q	R	+	2	0	RNF146	127649675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	1.456000	0.47831	0.655000	0.94253	CGA		0.443	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		13	60	0	0	0	0	13	60				
AKAP12	9590	broad.mit.edu	37	6	151671694	151671694	+	Missense_Mutation	SNP	C	C	T	rs201814292		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151671694C>T	ENST00000253332.1	+	3	2357	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	AKAP12_ENST00000402676.2_Missense_Mutation_p.T723M|AKAP12_ENST00000359755.5_Missense_Mutation_p.T618M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T625M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	723					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACAAAGAGACGGGGACAGAC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.001		0.0	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2167-2169)ACG>ATG		A kinase (PRKA) anchor protein 12 isoform 1							100.0	110.0	106.0					6																	151671694		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671694C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2168C>T	6.37:g.151671694C>T	ENSP00000253332:p.Thr723Met					AKAP12_uc003qoe.2_Missense_Mutation_p.T723M|AKAP12_uc003qof.2_Missense_Mutation_p.T625M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T618M	p.T723M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2408	+		Ovarian(120;0.125)	723					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2168C>T	CCDS5229.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.042	0.193461	0.09599	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.34	1.63	0.23807	.	1.175780	0.06355	N	0.710641	T	0.01800	0.0057	L	0.31294	0.92	0.09310	N	1	B;B;B	0.33694	0.421;0.421;0.297	B;B;B	0.24848	0.056;0.056;0.025	T	0.46938	-0.9155	10	0.44086	T	0.13	.	5.6723	0.17729	0.0:0.584:0.1303:0.2857	.	618;625;723	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	723;723;625;618	ENSP00000384537:T723M;ENSP00000253332:T723M;ENSP00000346702:T625M;ENSP00000352794:T618M	ENSP00000253332:T723M	T	+	2	0	AKAP12	151713387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.162000	0.31786	0.266000	0.21894	-0.727000	0.03589	ACG		0.567	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			12	133	0	0	0	0	12	133				
AKAP12	9590	broad.mit.edu	37	6	151672232	151672232	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151672232A>G	ENST00000253332.1	+	3	2895	c.2706A>G	c.(2704-2706)gcA>gcG	p.A902A	AKAP12_ENST00000402676.2_Silent_p.A902A|AKAP12_ENST00000359755.5_Silent_p.A797A|AKAP12_ENST00000354675.6_Silent_p.A804A			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	902					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGACGAGGGCAGCTACCATTA	0.532																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2704-2706)GCA>GCG		A kinase (PRKA) anchor protein 12 isoform 1							57.0	63.0	61.0					6																	151672232		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672232A>G	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2706A>G	6.37:g.151672232A>G						AKAP12_uc003qoe.2_Silent_p.A902A|AKAP12_uc003qof.2_Silent_p.A804A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.A797A	p.A902A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2946	+		Ovarian(120;0.125)	902					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2706A>G	CCDS5229.1																																																																																				0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			19	52	0	0	0	0	19	52				
STK31	56164	broad.mit.edu	37	7	23830531	23830531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:23830531C>G	ENST00000355870.3	+	22	2845	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	STK31_ENST00000433467.2_Nonsense_Mutation_p.S909*|STK31_ENST00000354639.3_Nonsense_Mutation_p.S886*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S886*|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTCCAGGTTCAGACTTATAT	0.353																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(2725-2727)TCA>TGA		serine/threonine kinase 31 isoform a							144.0	130.0	135.0					7																	23830531		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23830531C>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2726C>G	7.37:g.23830531C>G	ENSP00000348132:p.Ser909*					STK31_uc003swt.3_Nonsense_Mutation_p.S886*|STK31_uc011jze.1_Nonsense_Mutation_p.S909*|STK31_uc010kuq.2_Nonsense_Mutation_p.S886*|STK31_uc003swv.1_Nonsense_Mutation_p.S75*	p.S909*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			22	2793	+			909			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2726C>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	43	10.386565	0.99395	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.31	5.31	0.75309	.	0.168387	0.42420	D	0.000702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5978	18.5691	0.91128	0.0:1.0:0.0:0.0	.	.	.	.	X	909;909;886;886	.	ENSP00000346660:S886X	S	+	2	0	STK31	23797056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.831000	0.55776	2.475000	0.83589	0.557000	0.71058	TCA		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		10	31	0	0	0	0	10	31				
NFE2L3	9603	broad.mit.edu	37	7	26225363	26225363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:26225363C>T	ENST00000056233.3	+	4	2304	c.2045C>T	c.(2044-2046)tCa>tTa	p.S682L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	682					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTGGTGGCCTCAGGCCACAAA	0.418																																						uc003sxq.2		NA																	0				skin(3)|ovary(1)	4						c.(2044-2046)TCA>TTA		nuclear factor erythroid 2-like 3							43.0	44.0	44.0					7																	26225363		2183	4290	6473	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225363C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2045C>T	7.37:g.26225363C>T	ENSP00000056233:p.Ser682Leu						p.S682L	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	2317	+			682					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.2045C>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565498	0.27915	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.33654	1.4	5.53	4.66	0.58398	.	1.048630	0.07461	N	0.900611	T	0.40222	0.1108	M	0.62723	1.935	0.09310	N	0.999994	B	0.18461	0.028	B	0.13407	0.009	T	0.32079	-0.9920	10	0.40728	T	0.16	0.6091	12.086	0.53698	0.0:0.9166:0.0:0.0834	.	682	Q9Y4A8	NF2L3_HUMAN	L	682;387	ENSP00000056233:S682L	ENSP00000056233:S682L	S	+	2	0	NFE2L3	26191888	0.232000	0.23762	0.406000	0.26421	0.351000	0.29236	2.596000	0.46205	1.360000	0.45960	0.591000	0.81541	TCA		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			13	41	0	0	0	0	13	41				
HIP1	3092	broad.mit.edu	37	7	75172195	75172195	+	Silent	SNP	G	G	A	rs202078874		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:75172195G>A	ENST00000336926.6	-	28	2891	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	HIP1_ENST00000434438.2_Silent_p.S904S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	955	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGATTTGCCGGAAATGGTTG	0.562			T	PDGFRB	CMML								g|||	1	0.000199681	0.0	0.0	5008	,	,		15954	0.0		0.0	False		,,,				2504	0.001					uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2863-2865)TCC>TCT		huntingtin interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	92.0	88.0	89.0		2865	-10.4	0.1	7		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIP1	NM_005338.5		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		955/1038	75172195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172195G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2865C>T	7.37:g.75172195G>A						HIP1_uc011kfz.1_Silent_p.S781S	p.S955S	NM_005338	NP_005329	O00291	HIP1_HUMAN			28	2906	-			955			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.2865C>T	CCDS34669.1																																																																																				0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		4	98	0	0	0	0	4	98				
CALCR	799	broad.mit.edu	37	7	93055850	93055850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:93055850G>A	ENST00000394441.1	-	13	1558	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q431*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q431*|CALCR_ENST00000359558.2_Nonsense_Mutation_p.Q449*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q415*	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	449					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCCCAACGCTGGTTCCACTGA	0.547																																						uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1345-1347)CAG>TAG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						49.0	54.0	52.0					7																	93055850		2203	4300	6503	SO:0001587	stop_gained	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055850G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1243C>T	7.37:g.93055850G>A	ENSP00000377959:p.Gln415*					CALCR_uc011kia.1_Nonsense_Mutation_p.Q229*|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.Q415*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q415*	p.Q449*	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1606	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		431			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Nonsense_Mutation	SNP	ENST00000394441.1	37	c.1345C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214258	0.95104	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	.	.	.	4.57	2.43	0.29744	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	4.8164	0.13369	0.1505:0.2034:0.6461:0.0	.	.	.	.	X	449;431;431;415;415	.	ENSP00000352561:Q449X	Q	-	1	0	CALCR	92893786	0.985000	0.35326	0.197000	0.23402	0.023000	0.10783	2.440000	0.44855	0.471000	0.27319	0.585000	0.79938	CAG		0.547	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		45	71	0	0	0	0	45	71				
GPC2	221914	broad.mit.edu	37	7	99773453	99773453	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:99773453G>A	ENST00000292377.2	-	3	557	c.390C>T	c.(388-390)taC>taT	p.Y130Y	STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000426455.1_5'Flank|STAG3_ENST00000394018.2_5'Flank|GPC2_ENST00000471050.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGGCGGCCGTAGGAGTGGG	0.567																																						uc003utv.2		NA																	0				breast(1)|pancreas(1)	2						c.(388-390)TAC>TAT		glypican 2 precursor							44.0	48.0	46.0					7																	99773453		2203	4300	6503	SO:0001819	synonymous_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99773453G>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.390C>T	7.37:g.99773453G>A						GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Silent_p.Y130Y|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	p.Y130Y	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			3	558	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		130					A4D2A7	Silent	SNP	ENST00000292377.2	37	c.390C>T	CCDS5689.1																																																																																				0.567	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		41	50	0	0	0	0	41	50				
DOCK4	9732	broad.mit.edu	37	7	111517169	111517169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:111517169C>T	ENST00000437633.1	-	17	1917	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E	DOCK4_ENST00000428084.1_Missense_Mutation_p.G554E|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	554	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATTATTATTCCCAAGGAAAAT	0.338																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1660-1662)GGG>GAG		dedicator of cytokinesis 4							61.0	63.0	62.0					7																	111517169		1821	4091	5912	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111517169C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1661G>A	7.37:g.111517169C>T	ENSP00000404179:p.Gly554Glu					DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.G554E|DOCK4_uc003vga.1_Missense_Mutation_p.G159E	p.G554E	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			17	1930	-		Acute lymphoblastic leukemia(1;0.0441)	554			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1661G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.252178|2.252178	0.39797|0.39797	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|T;T	0.03094|0.03982	4.05;4.06|3.74;3.99	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.210445|0.210445	0.48767|0.48767	N|D	0.000180|0.000180	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30542|.	0.003;0.001;0.284|.	B;B;P|.	0.44477|.	0.007;0.012;0.451|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|8	0.20519|0.49607	T|T	0.43|0.09	.|.	12.1162|12.1162	0.53866|0.53866	0.0:0.7549:0.1793:0.0657|0.0:0.7549:0.1793:0.0657	.|.	554;554;554|.	Q149N2;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	E|R	542;554;554;542;553|6;542	ENSP00000410746:G554E;ENSP00000404179:G554E|ENSP00000412834:G6R;ENSP00000397412:G542R	ENSP00000345432:G542E|ENSP00000412834:G6R	G|G	-|-	2|1	0|0	DOCK4|DOCK4	111304405|111304405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.802000|2.802000	0.47916|0.47916	1.578000|1.578000	0.49821|0.49821	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.338	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	9	0	0	0	0	13	9				
KDM7A	80853	broad.mit.edu	37	7	139829433	139829433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:139829433T>C	ENST00000397560.2	-	4	516	c.419A>G	c.(418-420)aAg>aGg	p.K140R	JHDM1D_ENST00000006967.5_Missense_Mutation_p.K140R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		140					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCCATGCATCTTTATAATTAT	0.353																																						uc003vvm.2		NA																	0				ovary(1)	1						c.(418-420)AAG>AGG		jumonji C domain containing histone demethylase							103.0	94.0	97.0					7																	139829433		1849	4101	5950	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139829433T>C																												ENST00000397560.2:c.419A>G	7.37:g.139829433T>C	ENSP00000380692:p.Lys140Arg						p.K140R	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			4	423	-	Melanoma(164;0.0142)		140					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.419A>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383930	0.42308	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.70869	-0.52;-0.52	5.57	5.57	0.84162	.	0.182599	0.64402	D	0.000017	T	0.56673	0.2001	N	0.16478	0.41	0.49389	D	0.999781	B	0.09022	0.002	B	0.11329	0.006	T	0.51679	-0.8675	10	0.30078	T	0.28	-22.1904	16.0217	0.80503	0.0:0.0:0.0:1.0	.	140	Q6ZMT4	KDM7_HUMAN	R	140	ENSP00000380692:K140R;ENSP00000006967:K140R	ENSP00000006967:K140R	K	-	2	0	JHDM1D	139475902	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.938000	0.56583	2.243000	0.73865	0.533000	0.62120	AAG		0.353	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			24	47	0	0	0	0	24	47				
OR9A4	130075	broad.mit.edu	37	7	141619410	141619410	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:141619410C>T	ENST00000548136.1	+	1	794	c.735C>T	c.(733-735)ttC>ttT	p.F245F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502																																						uc003vwu.1		NA																	0				skin(1)	1						c.(733-735)TTC>TTT		olfactory receptor, family 9, subfamily A,							87.0	90.0	89.0					7																	141619410		2203	4300	6503	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619410C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.735C>T	7.37:g.141619410C>T							p.F245F	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	735	+	Melanoma(164;0.0171)		245			Helical; Name=6; (Potential).		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.735C>T	CCDS43661.1																																																																																				0.502	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		7	107	0	0	0	0	7	107				
ABCB8	11194	broad.mit.edu	37	7	150741174	150741174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:150741174G>A	ENST00000297504.6	+	16	1999	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ABCB8_ENST00000498578.1_Missense_Mutation_p.E628K|ABCB8_ENST00000358849.4_Missense_Mutation_p.E628K|ABCB8_ENST00000542328.1_Missense_Mutation_p.E540K|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	645	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GCTGGATGCAGAGTCCGAGCG	0.667																																						uc003wil.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(1933-1935)GAG>AAG		ATP-binding cassette, sub-family B, member 8							31.0	32.0	32.0					7																	150741174		2203	4299	6502	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150741174G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1933G>A	7.37:g.150741174G>A	ENSP00000297504:p.Glu645Lys					ABCB8_uc010lpx.2_Missense_Mutation_p.E628K|ABCB8_uc011kvd.1_Missense_Mutation_p.E540K|ABCB8_uc003wim.3_Missense_Mutation_p.E423K|ABCB8_uc003wik.3_Missense_Mutation_p.E628K	p.E645K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2026	+			645			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1933G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.061137	0.93846	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.90900	-1.86;-1.86;-1.86;-2.75	4.89	4.89	0.63831	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92802	0.7711	L	0.42008	1.315	0.80722	D	1	D;D;D;D	0.65815	0.991;0.992;0.992;0.995	D;P;P;D	0.66847	0.947;0.885;0.885;0.947	D	0.93251	0.6635	10	0.72032	D	0.01	-5.7286	15.9349	0.79694	0.0:0.0:1.0:0.0	.	540;628;645;628	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	K	628;611;645;540;628	ENSP00000351717:E628K;ENSP00000297504:E645K;ENSP00000438776:E540K;ENSP00000418271:E628K	ENSP00000297504:E645K	E	+	1	0	ABCB8	150372107	1.000000	0.71417	0.907000	0.35723	0.577000	0.36160	5.171000	0.64996	2.699000	0.92147	0.563000	0.77884	GAG		0.667	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		6	22	0	0	0	0	6	22				
MTUS1	57509	broad.mit.edu	37	8	17611659	17611659	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:17611659A>C	ENST00000262102.6	-	2	1882	c.1658T>G	c.(1657-1659)tTg>tGg	p.L553W	MTUS1_ENST00000381862.3_Missense_Mutation_p.L553W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L553W|MTUS1_ENST00000381869.3_Missense_Mutation_p.L553W	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	553					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTTCTGCTCAAGACTGTTTG	0.428																																						uc003wxv.2		NA																	0				ovary(1)|skin(1)	2						c.(1657-1659)TTG>TGG		mitochondrial tumor suppressor 1 isoform 1							258.0	241.0	246.0					8																	17611659		2017	4184	6201	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611659A>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1658T>G	8.37:g.17611659A>C	ENSP00000262102:p.Leu553Trp					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L553W|MTUS1_uc010lsz.2_Missense_Mutation_p.L553W	p.L553W	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2132	-			553					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1658T>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270116	0.23221	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.37411	2.99;1.2;2.99;2.02	5.1	2.49	0.30216	.	0.328485	0.21791	N	0.069065	T	0.39860	0.1094	L	0.27053	0.805	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.964;0.964	T	0.06991	-1.0796	10	0.87932	D	0	-2.1062	5.2085	0.15304	0.7146:0.0:0.1518:0.1336	.	553;553;553	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	W	553	ENSP00000371293:L553W;ENSP00000262102:L553W;ENSP00000430167:L553W;ENSP00000371286:L553W	ENSP00000262102:L553W	L	-	2	0	MTUS1	17655939	0.001000	0.12720	0.507000	0.27676	0.025000	0.11179	1.146000	0.31589	1.031000	0.39867	0.528000	0.53228	TTG		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		39	148	0	0	0	0	39	148				
CDCA2	157313	broad.mit.edu	37	8	25346199	25346199	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:25346199G>A	ENST00000330560.3	+	13	2142	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.K540K	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	555	Lys-rich.				mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCCTAAGAAGAGTCAGGTAA	0.313																																						uc003xep.1		NA																	0					0						c.(1663-1665)AAG>AAA		cell division cycle associated 2							62.0	63.0	63.0					8																	25346199		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25346199G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1665G>A	8.37:g.25346199G>A						PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.K555K|CDCA2_uc003xeq.1_Silent_p.K540K|CDCA2_uc003xer.1_Silent_p.K218K	p.K555K	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	13	2144	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	555			Lys-rich.		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.1665G>A	CCDS6049.1																																																																																				0.313	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		8	29	0	0	0	0	8	29				
BAG4	9530	broad.mit.edu	37	8	38034583	38034583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:38034583G>A	ENST00000287322.4	+	1	467	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	LSM1_ENST00000311351.4_5'Flank|LSM1_ENST00000520755.1_5'Flank|BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.G66S|LSM1_ENST00000522515.1_5'Flank	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	66					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCTGGGAGAAGGCGGAGGAGG	0.672																																						uc003xky.1		NA																	0				ovary(1)	1						c.(196-198)GGC>AGC		BCL2-associated athanogene 4							17.0	15.0	15.0					8																	38034583		2200	4291	6491	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38034583G>A	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.196G>A	8.37:g.38034583G>A	ENSP00000287322:p.Gly66Ser					LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Missense_Mutation_p.G66S	p.G66S	NM_004874	NP_004865	O95429	BAG4_HUMAN			1	478	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	66					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.196G>A	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867555	0.72065	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.85629	-2.01;-1.68	4.53	3.65	0.41850	.	0.273316	0.26470	N	0.024184	T	0.81118	0.4756	L	0.57536	1.79	0.28964	N	0.889642	B;B	0.29531	0.247;0.247	B;B	0.30572	0.117;0.117	T	0.74441	-0.3664	10	0.40728	T	0.16	-0.3613	9.7582	0.40515	0.0:0.0:0.7938:0.2062	.	66;66	B4E217;O95429	.;BAG4_HUMAN	S	66	ENSP00000393298:G66S;ENSP00000287322:G66S	ENSP00000287322:G66S	G	+	1	0	BAG4	38153740	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.756000	0.47549	1.099000	0.41499	0.491000	0.48974	GGC		0.672	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		8	16	0	0	0	0	8	16				
WWP1	11059	broad.mit.edu	37	8	87423945	87423945	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:87423945A>G	ENST00000517970.1	+	9	1210	c.903A>G	c.(901-903)gcA>gcG	p.A301A	WWP1_ENST00000341922.2_Silent_p.A171A|WWP1_ENST00000349423.2_Silent_p.A83A|WWP1_ENST00000265428.4_Silent_p.A301A	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	301					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTACCAGTGCAGAATTGGAAT	0.403																																						uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(901-903)GCA>GCG		WW domain containing E3 ubiquitin protein ligase							83.0	79.0	81.0					8																	87423945		2203	4300	6503	SO:0001819	synonymous_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423945A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.903A>G	8.37:g.87423945A>G						WWP1_uc010mai.2_Silent_p.A77A	p.A301A	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			9	1183	+			301					O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	c.903A>G	CCDS6242.1																																																																																				0.403	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	57	0	0	0	0	22	57				
GRHL2	79977	broad.mit.edu	37	8	102585906	102585906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:102585906C>T	ENST00000251808.3	+	6	1083	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	GRHL2_ENST00000395927.1_Nonsense_Mutation_p.Q233*	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	249					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGCACATTTCAGTACACCCT	0.473																																						uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(745-747)CAG>TAG		transcription factor CP2-like 3							61.0	56.0	57.0					8																	102585906		2203	4300	6503	SO:0001587	stop_gained	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585906C>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.745C>T	8.37:g.102585906C>T	ENSP00000251808:p.Gln249*					GRHL2_uc011lhi.1_Nonsense_Mutation_p.Q249*	p.Q249*	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1075	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		249					A1L303|Q6NT03|Q9H8B8	Nonsense_Mutation	SNP	ENST00000251808.3	37	c.745C>T	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	41	9.048372	0.99048	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-25.1237	19.7341	0.96195	0.0:1.0:0.0:0.0	.	.	.	.	X	249;233;249	.	ENSP00000251808:Q249X	Q	+	1	0	GRHL2	102655082	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.198000	0.51035	2.672000	0.90937	0.650000	0.86243	CAG		0.473	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		44	62	0	0	0	0	44	62				
ABRA	137735	broad.mit.edu	37	8	107773700	107773700	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:107773700C>T	ENST00000311955.3	-	2	765	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGCTATATTTCTGTTGGGCTT	0.423																																						uc003ymm.3		NA																	0				ovary(2)	2						c.(709-711)CAG>CAA		actin-binding Rho activating protein							70.0	67.0	68.0					8																	107773700		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773700C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.711G>A	8.37:g.107773700C>T							p.Q237Q	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	765	-			237						Silent	SNP	ENST00000311955.3	37	c.711G>A	CCDS6305.1																																																																																				0.423	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		19	137	0	0	0	0	19	137				
FOXD4	2298	broad.mit.edu	37	9	117484	117484	+	Silent	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:117484G>T	ENST00000382500.2	-	1	933	c.636C>A	c.(634-636)ccC>ccA	p.P212P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	212	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAAGGGGTGGGGCAGGTGGG	0.716																																						uc003zfz.2		NA																	0				skin(1)	1						c.(634-636)CCC>CCA		forkhead box D4							51.0	75.0	67.0					9																	117484		1979	3864	5843	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117484G>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.636C>A	9.37:g.117484G>T							p.P212P	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	934	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	212			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.636C>A	CCDS34975.1																																																																																				0.716	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		13	747	1	0	9.17e-09	1.24e-08	13	747				
SMARCA2	6595	broad.mit.edu	37	9	2182188	2182188	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:2182188G>C	ENST00000382203.1	+	31	4616	c.4407G>C	c.(4405-4407)aaG>aaC	p.K1469N	SMARCA2_ENST00000382194.1_Missense_Mutation_p.K1451N|SMARCA2_ENST00000302401.3_Missense_Mutation_p.K157N|SMARCA2_ENST00000382185.1_Missense_Mutation_p.K115N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.K1451N|SMARCA2_ENST00000382186.1_Missense_Mutation_p.K133N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1469N|SMARCA2_ENST00000324954.5_Missense_Mutation_p.K115N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1469	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCTGGAGAAGGATGTCATGC	0.438																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4405-4407)AAG>AAC		SWI/SNF-related matrix-associated							154.0	145.0	148.0					9																	2182188		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2182188G>C	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4407G>C	9.37:g.2182188G>C	ENSP00000371638:p.Lys1469Asn					SMARCA2_uc003zhd.2_Missense_Mutation_p.K1451N|SMARCA2_uc010mha.2_Missense_Mutation_p.K1384N|SMARCA2_uc011llw.1_Missense_Mutation_p.K155N|SMARCA2_uc003zhf.2_Missense_Mutation_p.K133N|SMARCA2_uc011llx.1_Missense_Mutation_p.K115N|SMARCA2_uc003zhe.2_Missense_Mutation_p.K157N|SMARCA2_uc003zhg.2_Missense_Mutation_p.K115N|SMARCA2_uc010mhb.2_Missense_Mutation_p.K139N	p.K1469N	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	31	4506	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1469			Bromo.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.4407G>C	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614651	0.46631	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.84	-2.37	0.06643	Bromodomain (6);Bromodomain, conserved site (1);	0.054873	0.64402	D	0.000001	T	0.39911	0.1096	L	0.35644	1.08	0.80722	D	1	D;D;P;P	0.65815	0.995;0.995;0.499;0.555	D;D;B;P	0.73708	0.981;0.981;0.391;0.526	T	0.03315	-1.1049	10	0.41790	T	0.15	-37.3669	14.5891	0.68351	0.4698:0.0:0.5302:0.0	.	155;157;1451;1469	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	N	1469;1451;1469;1451;133;157;115;133;155;115;115;115	ENSP00000265773:K1469N;ENSP00000349788:K1451N;ENSP00000371638:K1469N;ENSP00000371629:K1451N;ENSP00000401096:K133N;ENSP00000305411:K157N;ENSP00000324770:K115N;ENSP00000371621:K133N;ENSP00000387486:K155N;ENSP00000371620:K115N;ENSP00000371618:K115N;ENSP00000412242:K115N	ENSP00000305411:K157N	K	+	3	2	SMARCA2	2172188	0.815000	0.29118	0.966000	0.40874	0.843000	0.47879	-0.025000	0.12413	-0.711000	0.04995	0.555000	0.69702	AAG		0.438	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		39	508	0	0	0	0	39	508				
SIT1	27240	broad.mit.edu	37	9	35650526	35650526	+	Missense_Mutation	SNP	C	C	A	rs376457885	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:35650526C>A	ENST00000259608.3	-	2	295	c.209G>T	c.(208-210)cGg>cTg	p.R70L	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	70					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCTGCTCCGGCCCCTGGT	0.597																																						uc003zxe.1		NA																	0					0						c.(208-210)CGG>CTG		SHP2-interacting transmembrane adaptor protein							67.0	77.0	74.0					9																	35650526		2203	4300	6503	SO:0001583	missense	27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650526C>A		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.209G>T	9.37:g.35650526C>A	ENSP00000259608:p.Arg70Leu					SIT1_uc003zxf.1_Intron	p.R70L	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	306	-			70			Cytoplasmic (Potential).		B2RBP9	Missense_Mutation	SNP	ENST00000259608.3	37	c.209G>T	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583513	0.28268	.	.	ENSG00000137078	ENST00000259608	T	0.47177	0.85	4.72	-2.27	0.06846	.	1.259800	0.05866	N	0.623768	T	0.31420	0.0796	L	0.27053	0.805	0.09310	N	1	B	0.30326	0.276	B	0.23852	0.049	T	0.21690	-1.0238	10	0.34782	T	0.22	-0.2708	9.0106	0.36139	0.0:0.335:0.0:0.665	.	70	Q9Y3P8	SIT1_HUMAN	L	70	ENSP00000259608:R70L	ENSP00000259608:R70L	R	-	2	0	SIT1	35640526	0.000000	0.05858	0.002000	0.10522	0.459000	0.32528	-0.539000	0.06113	-0.286000	0.09076	0.467000	0.42956	CGG		0.597	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		16	319	1	0	2e-07	2.68e-07	16	319				
FRMPD1	22844	broad.mit.edu	37	9	37731065	37731065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:37731065G>A	ENST00000539465.1	+	9	1416	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FRMPD1_ENST00000541302.1_Missense_Mutation_p.E144K|FRMPD1_ENST00000536622.1_Missense_Mutation_p.E97K|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E275K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCTGAAAGAAGACCCCGT	0.517																																						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(823-825)GAA>AAA		FERM and PDZ domain containing 1							94.0	93.0	94.0					9																	37731065		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37731065G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.823G>A	9.37:g.37731065G>A	ENSP00000444411:p.Glu275Lys					FRMPD1_uc004aah.1_Missense_Mutation_p.E275K|FRMPD1_uc011lqm.1_Missense_Mutation_p.E97K|FRMPD1_uc011lqn.1_Missense_Mutation_p.E144K	p.E275K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	9	867	+			275			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.823G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804577	0.70682	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.052424	0.85682	D	0.000000	T	0.48660	0.1512	N	0.21142	0.635	0.58432	D	0.999999	B;D	0.62365	0.364;0.991	B;P	0.61800	0.265;0.894	T	0.42999	-0.9418	10	0.42905	T	0.14	-15.7122	17.1917	0.86881	0.0:0.0:1.0:0.0	.	144;275	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	K	275;275;97;144	ENSP00000366995:E275K;ENSP00000444411:E275K;ENSP00000437762:E97K;ENSP00000444804:E144K	ENSP00000366995:E275K	E	+	1	0	FRMPD1	37721065	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.624000	0.54231	2.666000	0.90696	0.655000	0.94253	GAA		0.517	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		35	244	0	0	0	0	35	244				
VPS13A	23230	broad.mit.edu	37	9	79824394	79824394	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:79824394C>T	ENST00000360280.3	+	6	701	c.441C>T	c.(439-441)atC>atT	p.I147I	VPS13A_ENST00000376634.4_Silent_p.I147I|VPS13A_ENST00000357409.5_Silent_p.I147I|VPS13A_ENST00000376636.3_Silent_p.I147I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	147					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACACAGATCATAAAAAATC	0.254																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(439-441)ATC>ATT		vacuolar protein sorting 13A isoform A							36.0	38.0	37.0					9																	79824394		2203	4289	6492	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79824394C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.441C>T	9.37:g.79824394C>T						VPS13A_uc004akp.3_Silent_p.I147I|VPS13A_uc004akq.3_Silent_p.I147I|VPS13A_uc004aks.2_Silent_p.I147I	p.I147I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			6	701	+			147					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.441C>T	CCDS6655.1																																																																																				0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	19	0	0	0	0	7	19				
TLE4	7091	broad.mit.edu	37	9	82187743	82187743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:82187743G>A	ENST00000376552.2	+	1	1056	c.38G>A	c.(37-39)aGa>aAa	p.R13K	TLE4_ENST00000376544.3_Missense_Mutation_p.R13K|TLE4_ENST00000265284.6_Missense_Mutation_p.R13K|TLE4_ENST00000376537.4_Missense_Mutation_p.R13K|TLE4_ENST00000376520.4_Missense_Mutation_p.R13K|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	13	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCGCAGACCAGACACCCAGTG	0.672																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(16-18)AGA>AAA		transducin-like enhancer protein 4							20.0	23.0	22.0					9																	82187743		1867	4089	5956	SO:0001583	missense	7091							g.chr9:82187743G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.38G>A	9.37:g.82187743G>A	ENSP00000365735:p.Arg13Lys					TLE4_uc004alc.2_Missense_Mutation_p.R13K|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.R6K|TLE4_uc010mps.2_Missense_Mutation_p.R6K|TLE4_uc004alf.2_5'Flank	p.R6K	NM_007005	NP_008936	O60756	BCE1_HUMAN			1	866	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.17G>A	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054397	0.55218	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284	T;T;T;T;T;T	0.56444	0.46;0.5;0.51;0.66;0.49;0.57	3.47	3.47	0.39725	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.64402	D	0.000001	T	0.57917	0.2086	L	0.60455	1.87	0.80722	D	1	B;B;P	0.37101	0.064;0.058;0.582	B;B;P	0.45998	0.169;0.015;0.5	T	0.64914	-0.6295	10	0.87932	D	0	-1.2838	13.733	0.62799	0.0:0.0:1.0:0.0	.	13;13;13	F8W6T6;Q04727-2;Q04727	.;.;TLE4_HUMAN	K	13	ENSP00000365735:R13K;ENSP00000365727:R13K;ENSP00000365703:R13K;ENSP00000415423:R13K;ENSP00000365720:R13K;ENSP00000265284:R13K	ENSP00000265284:R13K	R	+	2	0	TLE4	81377563	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.316000	0.79007	1.477000	0.48234	0.455000	0.32223	AGA		0.672	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		8	41	0	0	0	0	8	41				
PTCH1	5727	broad.mit.edu	37	9	98218642	98218642	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:98218642G>A	ENST00000331920.6	-	19	3521	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	PTCH1_ENST00000375274.2_Silent_p.I1073I|PTCH1_ENST00000429896.2_Silent_p.I923I|PTCH1_ENST00000430669.2_Silent_p.I1008I|PTCH1_ENST00000418258.1_Silent_p.I923I|PTCH1_ENST00000437951.1_Silent_p.I1008I|PTCH1_ENST00000421141.1_Silent_p.I923I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1074					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTGATTCCGATGAGGCCCA	0.587																																						uc004avk.3		NA																	1	Deletion - In frame(1)	p.V1057_L1102del(1)	central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3220-3222)ATC>ATT		patched isoform L							128.0	94.0	105.0					9																	98218642		2203	4300	6503	SO:0001819	synonymous_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98218642G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3222C>T	9.37:g.98218642G>A						PTCH1_uc010mro.2_Silent_p.I923I|PTCH1_uc010mrp.2_Silent_p.I923I|PTCH1_uc010mrq.2_Silent_p.I923I|PTCH1_uc004avl.3_Silent_p.I923I|PTCH1_uc010mrr.2_Silent_p.I1008I|PTCH1_uc004avm.3_Silent_p.I1073I	p.I1074I	NM_000264	NP_000255	Q13635	PTC1_HUMAN			19	3410	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1074			Helical; (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	c.3222C>T	CCDS6714.1																																																																																				0.587	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		29	36	0	0	0	0	29	36				
TBC1D13	54662	broad.mit.edu	37	9	131566365	131566365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:131566365G>C	ENST00000372648.5	+	9	1035	c.885G>C	c.(883-885)ttG>ttC	p.L295F	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.L114F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	295	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCACCTTGAAAGATAAGG	0.537																																						uc010myj.2		NA																	0					0						c.(883-885)TTG>TTC		TBC1 domain family, member 13							102.0	89.0	93.0					9																	131566365		2203	4300	6503	SO:0001583	missense	54662					intracellular	Rab GTPase activator activity	g.chr9:131566365G>C	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.885G>C	9.37:g.131566365G>C	ENSP00000361731:p.Leu295Phe					TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Missense_Mutation_p.L114F	p.L295F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			9	1008	+			295			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	c.885G>C	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934227	0.73442	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.37752	1.18;1.18	5.49	4.59	0.56863	Rab-GAP/TBC domain (5);	0.081250	0.50627	D	0.000103	T	0.65533	0.2700	M	0.90483	3.12	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.72962	-0.4132	10	0.87932	D	0	-16.6217	13.6774	0.62462	0.0754:0.0:0.9246:0.0	.	295	Q9NVG8	TBC13_HUMAN	F	295;114	ENSP00000361731:L295F;ENSP00000437751:L114F	ENSP00000361731:L295F	L	+	3	2	TBC1D13	130606186	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.379000	0.44318	2.584000	0.87258	0.555000	0.69702	TTG		0.537	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		15	60	0	0	0	0	15	60				
GTF3C4	9329	broad.mit.edu	37	9	135554462	135554462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:135554462G>T	ENST00000372146.4	+	2	2020	c.1456G>T	c.(1456-1458)Ggt>Tgt	p.G486C	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	486					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAGCCCCTGCGGTGCATACCT	0.468																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1456-1458)GGT>TGT		general transcription factor IIIC 4							70.0	71.0	71.0					9																	135554462		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554462G>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1456G>T	9.37:g.135554462G>T	ENSP00000361219:p.Gly486Cys					GTF3C4_uc010mzw.2_RNA	p.G486C	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1714	+			486					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1456G>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436700	0.43224	.	.	ENSG00000125484	ENST00000372146	T	0.73047	-0.71	5.84	5.84	0.93424	.	0.047442	0.85682	D	0.000000	T	0.76709	0.4025	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.79045	-0.1964	10	0.72032	D	0.01	-24.9264	18.7127	0.91664	0.0:0.0:1.0:0.0	.	486	Q9UKN8	TF3C4_HUMAN	C	486	ENSP00000361219:G486C	ENSP00000361219:G486C	G	+	1	0	GTF3C4	134544283	1.000000	0.71417	0.281000	0.24762	0.352000	0.29268	7.385000	0.79763	2.765000	0.95021	0.655000	0.94253	GGT		0.468	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			15	76	1	0	7.93e-07	1.06e-06	15	76				
IL1RAPL2	26280	broad.mit.edu	37	X	105011444	105011444	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:105011444T>C	ENST00000372582.1	+	11	2607	c.1851T>C	c.(1849-1851)tgT>tgC	p.C617C	IL1RAPL2_ENST00000344799.4_Silent_p.C617C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	617					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGGCACTGTTGCAGAGGTT	0.483																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(1849-1851)TGT>TGC		interleukin 1 receptor accessory protein-like 2							118.0	109.0	112.0					X																	105011444		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011444T>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1851T>C	X.37:g.105011444T>C							p.C617C	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2607	+			617			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1851T>C	CCDS14517.1																																																																																				0.483	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		14	121	0	0	0	0	14	121				
PLXNA3	55558	broad.mit.edu	37	X	153694349	153694349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:153694349G>T	ENST00000369682.3	+	14	2779	c.2604G>T	c.(2602-2604)ttG>ttT	p.L868F		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	868	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCCTCTTGTCCCGAGAGG	0.652																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2602-2604)TTG>TTT		plexin A3 precursor							62.0	55.0	57.0					X																	153694349		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694349G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2604G>T	X.37:g.153694349G>T	ENSP00000358696:p.Leu868Phe						p.L868F	NM_017514	NP_059984	P51805	PLXA3_HUMAN			14	2777	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		868			IPT/TIG 1.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.2604G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257812	0.10239	.	.	ENSG00000130827	ENST00000369682	T	0.76316	-1.01	5.32	-0.372	0.12520	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.603821	0.17534	N	0.170793	T	0.49932	0.1586	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.38993	-0.9635	10	0.59425	D	0.04	.	0.4822	0.00550	0.1948:0.1957:0.2495:0.36	.	868	P51805	PLXA3_HUMAN	F	868	ENSP00000358696:L868F	ENSP00000358696:L868F	L	+	3	2	PLXNA3	153347543	0.000000	0.05858	0.140000	0.22221	0.078000	0.17371	-0.854000	0.04299	0.104000	0.17725	-0.985000	0.02557	TTG		0.652	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		39	15	1	0	2.25e-16	3.14e-16	39	15				
ODF2L	57489	broad.mit.edu	37	1	86838147	86838148	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:86838147_86838148insT	ENST00000359242.3	-	9	1167_1168	c.886_887insA	c.(886-888)accfs	p.T296fs	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.T296fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.T165fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.T296fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.T296fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.T296fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	296						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCCAATTCGGTTTTTTCTATC	0.257																																						uc001dll.1		NA																	0				ovary(1)	1						c.(886-888)ACCfs		outer dense fiber of sperm tails 2-like isoform																																				SO:0001589	frameshift_variant	57489					centrosome		g.chr1:86838147_86838148insT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.887dupA	1.37:g.86838153_86838153dupT	ENSP00000359600:p.Thr296fs					ODF2L_uc001dlm.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.T165fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.T126fs|ODF2L_uc009wcr.1_Frame_Shift_Ins_p.T165fs	p.T296fs	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	9	1226_1227	-			296			Potential.		A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Ins	INS	ENST00000359242.3	37	c.886_887insA	CCDS41354.2																																																																																				0.257	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			2	4	NA	NA	NA	NA	2	4	---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49634078	49634079	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:49634078_49634079delTT	ENST00000374189.1	+	8	1017_1018	c.836_837delTT	c.(835-837)cttfs	p.L279fs	MAPK8_ENST00000374182.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Frame_Shift_Del_p.L279fs			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCTGATGTCCTTTTCCCAGCTG	0.386																																						uc009xnz.2		NA																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(835-837)CTTfs		mitogen-activated protein kinase 8 isoform JNK1																																				SO:0001589	frameshift_variant	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49634078_49634079delTT	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.836_837delTT	10.37:g.49634080_49634081delTT	ENSP00000363304:p.Leu279fs					MAPK8_uc001jgl.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgm.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgo.2_Frame_Shift_Del_p.L279fs|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Frame_Shift_Del_p.L279fs|MAPK8_uc010qgk.1_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgp.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgq.2_Frame_Shift_Del_p.L279fs	p.L279fs	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	1060_1061	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	279			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Frame_Shift_Del	DEL	ENST00000374189.1	37	c.836_837delTT	CCDS7224.1																																																																																				0.386	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			24	70	NA	NA	NA	NA	24	70	---	---	---	---
NUDT7	283927	broad.mit.edu	37	16	77775743	77775744	+	Frame_Shift_Ins	INS	-	-	A	rs528673952|rs201164809	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:77775743_77775744insA	ENST00000268533.5	+	4	682_683	c.613_614insA	c.(613-615)gaafs	p.E205fs	NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.E152fs|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TATCATTTTGGAAAAAAAACCC	0.381													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	11	0.00219649	0.0	0.0	5008	,	,		18557	0.0		0.0	False		,,,				2504	0.0112					uc010chd.2		NA																	0				ovary(1)|kidney(1)	2						c.(613-615)GAAfs		nudix motif 7																																				SO:0001589	frameshift_variant	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775743_77775744insA	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.621dupA	16.37:g.77775751_77775751dupA	ENSP00000268533:p.Glu205fs					NUDT7_uc010vnj.1_Frame_Shift_Ins_p.E152fs	p.E205fs	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			4	682_683	+			205					B4DLE5|H3BUB8	Frame_Shift_Ins	INS	ENST00000268533.5	37	c.613_614insA	CCDS42195.1																																																																																				0.381	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			11	33	NA	NA	NA	NA	11	33	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577102	7577119	+	In_Frame_Del	DEL	CCAGGACAGGCACAAACA	CCAGGACAGGCACAAACA	-	rs17849781		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:7577102_7577119delCCAGGACAGGCACAAACA	ENST00000269305.4	-	8	1008_1025	c.819_836delTGTTTGTGCCTGTCCTGG	c.(817-837)cgtgtttgtgcctgtcctggg>cgg	p.VCACPG274del	TP53_ENST00000420246.2_In_Frame_Del_p.VCACPG274del|TP53_ENST00000359597.4_In_Frame_Del_p.VCACPG274del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.VCACPG274del|TP53_ENST00000445888.2_In_Frame_Del_p.VCACPG274del	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278S(55)|p.C275Y(53)|p.C275F(37)|p.G279E(32)|p.P278R(30)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.V274F(21)|p.V274A(19)|p.C277Y(15)|p.A276P(15)|p.P278H(13)|p.V274L(11)|p.V274D(9)|p.A276S(9)|p.G279R(9)|p.R280fs*65(8)|p.C277*(8)|p.V274G(8)|p.0?(8)|p.A276V(7)|p.C275G(7)|p.C275W(7)|p.C275R(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.C277G(5)|p.C275fs*70(4)|p.G279V(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(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)	CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA	0.541		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		628	Substitution - Missense(538)|Deletion - Frameshift(30)|Substitution - coding silent(15)|Deletion - In frame(10)|Insertion - Frameshift(10)|Substitution - Nonsense(9)|Whole gene deletion(8)|Insertion - In frame(3)|Complex - frameshift(3)|Unknown(2)	p.P278L(52)|p.P278S(48)|p.C275Y(44)|p.C275F(34)|p.G279E(32)|p.P278R(26)|p.P278T(21)|p.C277F(20)|p.P278A(18)|p.V274F(17)|p.C277Y(15)|p.V274A(13)|p.A276P(13)|p.P278H(11)|p.A276S(9)|p.V274L(9)|p.R280fs*65(7)|p.V274D(7)|p.A276V(7)|p.G279R(7)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.A276T(7)|p.C277*(6)|p.V274G(6)|p.A276D(6)|p.C275R(6)|p.P278fs*67(5)|p.G279V(4)|p.C277G(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.C275fs*70(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(1)	large_intestine(75)|lung(72)|upper_aerodigestive_tract(67)|breast(59)|skin(45)|oesophagus(45)|haematopoietic_and_lymphoid_tissue(45)|ovary(38)|urinary_tract(35)|central_nervous_system(30)|stomach(24)|liver(20)|kidney(12)|bone(11)|prostate(10)|soft_tissue(8)|biliary_tract(7)|pancreas(7)|endometrium(5)|peritoneum(3)|thymus(3)|NS(2)|autonomic_ganglia(1)|thyroid(1)|cervix(1)|eye(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM011015|CM052927|CM065496|CM076568|CM951234|CM961376	TP53	M	rs17849781	c.(817-837)CGTGTTTGTGCCTGTCCTGGG>CGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7577102_7577119delCCAGGACAGGCACAAACA	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.819_836delTGTTTGTGCCTGTCCTGG	17.37:g.7577102_7577119delCCAGGACAGGCACAAACA	ENSP00000269305:p.Val274_Gly279del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.VCACPG274del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cng.1_In_Frame_Del_p.VCACPG142del|TP53_uc002gii.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cnh.1_In_Frame_Del_p.VCACPG274del|TP53_uc010cni.1_In_Frame_Del_p.VCACPG274del|TP53_uc002gij.2_In_Frame_Del_p.VCACPG274del	p.VCACPG274del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1013_1030	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274_279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|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	In_Frame_Del	DEL	ENST00000269305.4	37	c.819_836delTGTTTGTGCCTGTCCTGG	CCDS11118.1																																																																																				0.541	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	20	NA	NA	NA	NA	17	20	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			8	189	NA	NA	NA	NA	8	189	---	---	---	---
PHOX2B	8929	broad.mit.edu	37	4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-	rs543135182|rs574093401|rs17884724|rs17879189	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENST00000226382.2	-	3	1115_1135	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)gcggcggcagcggcagcggcggca>gca	p.252_259AAAAAAAA>A	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252	Poly-Ala.		Missing. {ECO:0000269|PubMed:14566559}.		autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.819			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(754-777)GCGGCGGCAGCGGCAGCGGCGGCA>GCA		paired-like homeobox 2b				83,591		33,17,287						1.9	0.0		dbSNP_124	4	17,2419		3,11,1204	no	coding	PHOX2B	NM_003924.3		36,28,1491	A1A1,A1R,RR		0.6979,12.3145,3.2154				100,3010				SO:0001651	inframe_deletion	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.756_776delGGCGGCAGCGGCAGCGGCGGC	4.37:g.41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENSP00000226382:p.Ala252_Ala258del						p.252_259AAAAAAAA>A	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			3	1116_1136	-			252_259		Missing.	Poly-Ala.		Q6PJD9	In_Frame_Del	DEL	ENST00000226382.2	37	c.756_776delGGCGGCAGCGGCAGCGGCGGC	CCDS3463.1																																																																																				0.819	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			3	5	NA	NA	NA	NA	3	5	---	---	---	---
