#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
FAM131C	348487	broad.mit.edu	37	1	16385163	16385163	+	Silent	SNP	C	C	T	rs200763702	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:16385163C>T	ENST00000375662.4	-	7	795	c.612G>A	c.(610-612)caG>caA	p.Q204Q	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	204										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGTCATCCTGTGAGGGGC	0.652													C|||	11	0.00219649	0.0045	0.0014	5008	,	,		25725	0.0		0.003	False		,,,				2504	0.001					uc001axz.3		NA																	0					0						c.(610-612)CAG>CAA		hypothetical protein LOC348487		C		21,4005		0,21,1992	25.0	24.0	24.0		612	3.8	0.9	1		24	9,8311		0,9,4151	no	coding-synonymous	FAM131C	NM_182623.2		0,30,6143	TT,TC,CC		0.1082,0.5216,0.243		204/281	16385163	30,12316	2013	4160	6173	SO:0001819	synonymous_variant	348487							g.chr1:16385163C>T		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.612G>A	1.37:g.16385163C>T						FAM131C_uc010obz.1_Intron	p.Q204Q	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	7	802	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	204					Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	c.612G>A	CCDS41270.1																																																																																				0.652	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		2	4	0	0	0	0	2	4				
MATN1	4146	broad.mit.edu	37	1	31188840	31188840	+	Missense_Mutation	SNP	C	C	T	rs371564845		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:31188840C>T	ENST00000373765.4	-	5	1158	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	375	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGGCCCCGGGCCTAGCC	0.552																																						uc001brz.2		NA																	0				central_nervous_system(1)	1						c.(1123-1125)GGG>AGG		matrilin 1, cartilage matrix protein precursor		C	ARG/GLY	0,4406		0,0,2203	88.0	93.0	91.0		1123	2.7	0.0	1		91	1,8599		0,1,4299	no	missense	MATN1	NM_002379.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	375/497	31188840	1,13005	2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31188840C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1123G>A	1.37:g.31188840C>T	ENSP00000362870:p.Gly375Arg					uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.G293R	p.G375R	NM_002379	NP_002370	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	1157	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	375			VWFA 2.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.1123G>A	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.176002	0.09443	0.0	1.16E-4	ENSG00000162510	ENST00000373765	T	0.79940	-1.32	5.53	2.69	0.31865	von Willebrand factor, type A (3);	.	.	.	.	T	0.71651	0.3365	L	0.41824	1.3	0.58432	D	0.999991	B;B	0.27932	0.086;0.194	B;B	0.26094	0.066;0.066	T	0.64816	-0.6318	9	0.46703	T	0.11	-18.8736	10.9062	0.47081	0.0:0.7969:0.0:0.2031	.	359;375	A3KMG0;P21941	.;MATN1_HUMAN	R	375	ENSP00000362870:G375R	ENSP00000362870:G375R	G	-	1	0	MATN1	30961427	1.000000	0.71417	0.006000	0.13384	0.042000	0.13812	4.111000	0.57838	0.320000	0.23234	-0.133000	0.14855	GGG		0.552	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		11	73	0	0	0	0	11	73				
MRPS15	64960	broad.mit.edu	37	1	36929441	36929441	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:36929441G>C	ENST00000373116.5	-	2	302	c.141C>G	c.(139-141)ctC>ctG	p.L47L	CSF3R_ENST00000487540.2_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	47				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). {ECO:0000305}.	translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCGGCCTGGAGGAGGAGAC	0.607																																						uc001cas.2		NA																	0				ovary(1)	1						c.(139-141)CTC>CTG		mitochondrial ribosomal protein S15 precursor							63.0	55.0	58.0					1																	36929441		2203	4300	6503	SO:0001819	synonymous_variant	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36929441G>C	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.141C>G	1.37:g.36929441G>C							p.L47L	NM_031280	NP_112570	P82914	RT15_HUMAN			2	305	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	47	GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).				B2RD82|Q9H2K1	Silent	SNP	ENST00000373116.5	37	c.141C>G	CCDS411.1																																																																																				0.607	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		6	36	0	0	0	0	6	36				
MTF1	4520	broad.mit.edu	37	1	38305745	38305745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:38305745C>T	ENST00000373036.4	-	3	634	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	165					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTACTCTCCTCGGTGAGTCTT	0.547																																						uc001cce.1		NA																	0				ovary(1)|pancreas(1)	2						c.(493-495)CGA>CAA		metal-regulatory transcription factor 1							156.0	136.0	143.0					1																	38305745		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305745C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.494G>A	1.37:g.38305745C>T	ENSP00000362127:p.Arg165Gln					MTF1_uc009vvj.1_5'UTR	p.R165Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN			3	635	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	165					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.494G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604817	0.96626	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.15017	2.46	5.92	4.99	0.66335	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	N	0.17082	0.46	0.47547	D	0.999455	D	0.76494	0.999	P	0.56474	0.799	T	0.05484	-1.0882	10	0.56958	D	0.05	.	16.9066	0.86130	0.0:0.8719:0.1281:0.0	.	165	Q14872	MTF1_HUMAN	Q	165;33	ENSP00000362127:R165Q	ENSP00000362127:R165Q	R	-	2	0	MTF1	38078332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	1.460000	0.47911	0.655000	0.94253	CGA		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		11	50	0	0	0	0	11	50				
AKNAD1	254268	broad.mit.edu	37	1	109391400	109391400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:109391400G>C	ENST00000370001.3	-	5	1487	c.1219C>G	c.(1219-1221)Cct>Gct	p.P407A	AKNAD1_ENST00000357393.4_Missense_Mutation_p.P114A|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P407A|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P407A	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	407						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAATGGTAAGGAGAGTCCTGT	0.313																																						uc001dwa.2		NA																	0				ovary(3)	3						c.(1219-1221)CCT>GCT		hypothetical protein LOC254268							99.0	115.0	110.0					1																	109391400		2202	4297	6499	SO:0001583	missense	254268							g.chr1:109391400G>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1219C>G	1.37:g.109391400G>C	ENSP00000359018:p.Pro407Ala					AKNAD1_uc010ovb.1_Missense_Mutation_p.P114A|AKNAD1_uc001dwb.2_RNA	p.P407A	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			5	1488	-			407			Potential.		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1219C>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267721	0.01433	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.92	-9.85	0.00476	.	2.550190	0.00914	N	0.002514	T	0.06735	0.0172	L	0.29908	0.895	0.09310	N	1	P;P	0.44195	0.828;0.704	P;B	0.47251	0.542;0.388	T	0.47100	-0.9143	10	0.15499	T	0.54	5.9034	1.6654	0.02801	0.4544:0.1702:0.1176:0.2578	.	114;407	B4DET8;Q5T1N1	.;AKND1_HUMAN	A	407;114;407;407	ENSP00000359018:P407A;ENSP00000349968:P114A;ENSP00000359011:P407A;ENSP00000359012:P407A	ENSP00000349968:P114A	P	-	1	0	AKNAD1	109192923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.348000	0.02629	-2.151000	0.00795	-0.150000	0.13652	CCT		0.313	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		11	77	0	0	0	0	11	77				
POGZ	23126	broad.mit.edu	37	1	151377602	151377602	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:151377602G>C	ENST00000271715.2	-	19	4223	c.3909C>G	c.(3907-3909)gtC>gtG	p.V1303V	POGZ_ENST00000409503.1_Silent_p.V1294V|POGZ_ENST00000540984.1_Silent_p.V665V|POGZ_ENST00000531094.1_Silent_p.V1241V|POGZ_ENST00000361398.3_Silent_p.V1250V|POGZ_ENST00000491586.1_Silent_p.V1259V|POGZ_ENST00000392723.1_Silent_p.V1250V|POGZ_ENST00000368863.2_Silent_p.V1208V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1303	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCCAGCCAGACAAGCACCA	0.517																																						uc001eyd.1		NA																	0				ovary(3)	3						c.(3907-3909)GTC>GTG		pogo transposable element with ZNF domain							139.0	137.0	138.0					1																	151377602		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377602G>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3909C>G	1.37:g.151377602G>C						POGZ_uc001eye.1_Silent_p.V1250V|POGZ_uc010pdb.1_Silent_p.V1294V|POGZ_uc001eyf.1_Silent_p.V1259V|POGZ_uc010pdc.1_Silent_p.V1241V|POGZ_uc009wmv.1_Silent_p.V1208V|POGZ_uc010pdd.1_Silent_p.V794V	p.V1303V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4215	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1303			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.3909C>G	CCDS997.1																																																																																				0.517	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		27	85	0	0	0	0	27	85				
NES	10763	broad.mit.edu	37	1	156642028	156642028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:156642028G>A	ENST00000368223.3	-	4	2084	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	651	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGATTTTCCGTTCCTGGAAA	0.398																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(1951-1953)ACG>ATG		nestin							54.0	54.0	54.0					1																	156642028		2202	4300	6502	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642028G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1952C>T	1.37:g.156642028G>A	ENSP00000357206:p.Thr651Met						p.T651M	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2085	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		651			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1952C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726434	0.48833	.	.	ENSG00000132688	ENST00000368223	D	0.85773	-2.03	4.75	3.63	0.41609	.	0.238464	0.21766	N	0.069438	T	0.45538	0.1347	N	0.08118	0	0.09310	N	1	B	0.24043	0.096	B	0.09377	0.004	T	0.42749	-0.9433	10	0.87932	D	0	.	1.7857	0.03040	0.1676:0.0908:0.1746:0.5671	.	651	P48681	NEST_HUMAN	M	651	ENSP00000357206:T651M	ENSP00000357206:T651M	T	-	2	0	NES	154908652	0.000000	0.05858	0.893000	0.35052	0.402000	0.30811	0.573000	0.23699	0.342000	0.23796	-0.520000	0.04383	ACG		0.398	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		10	38	0	0	0	0	10	38				
FCRL3	115352	broad.mit.edu	37	1	157665837	157665837	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:157665837G>T	ENST00000368184.3	-	7	1416	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T375T|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	375						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TACTTCTCACGGTGACTCGAA	0.522																																						uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.(1123-1125)ACC>ACA		Fc receptor-like 3 precursor							104.0	93.0	96.0					1																	157665837		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665837G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1125C>A	1.37:g.157665837G>T						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.T375T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.T101T|FCRL3_uc001frc.1_Silent_p.T375T	p.T375T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1417	-	all_hematologic(112;0.0378)		375			Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1125C>A	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		6	30	1	0	2.01e-06	2.15e-06	6	30				
FMO4	2329	broad.mit.edu	37	1	171303659	171303659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:171303659G>A	ENST00000367749.3	+	8	1267	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	313					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTCTTTGAAGATGGGAC	0.378																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	0				kidney(2)|skin(1)	3						c.(937-939)GAA>AAA		flavin containing monooxygenase 4							81.0	84.0	83.0					1																	171303659		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303659G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.937G>A	1.37:g.171303659G>A	ENSP00000356723:p.Glu313Lys						p.E313K	NM_002022	NP_002013	P31512	FMO4_HUMAN			8	1154	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		313					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.937G>A	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869757	0.91587	.	.	ENSG00000076258	ENST00000367749	T	0.58060	0.36	5.63	5.63	0.86233	.	0.105878	0.64402	D	0.000005	T	0.58680	0.2139	M	0.66560	2.04	0.47994	D	0.999565	P	0.41673	0.759	P	0.56916	0.809	T	0.57033	-0.7880	10	0.40728	T	0.16	-19.0849	13.5725	0.61856	0.0754:0.0:0.9246:0.0	.	313	P31512	FMO4_HUMAN	K	313	ENSP00000356723:E313K	ENSP00000356723:E313K	E	+	1	0	FMO4	169570283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.811000	0.86092	2.632000	0.89209	0.650000	0.86243	GAA		0.378	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		11	50	0	0	0	0	11	50				
ASPM	259266	broad.mit.edu	37	1	197111547	197111547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:197111547G>A	ENST00000367409.4	-	3	2091	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	ASPM_ENST00000294732.7_Missense_Mutation_p.S612L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	612					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTAACAGCTGATGTTTTAGG	0.368																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1834-1836)TCA>TTA		asp (abnormal spindle)-like, microcephaly							201.0	213.0	209.0					1																	197111547		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111547G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1835C>T	1.37:g.197111547G>A	ENSP00000356379:p.Ser612Leu					ASPM_uc001gtv.2_Missense_Mutation_p.S612L|ASPM_uc001gtw.3_Intron	p.S612L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	2092	-			612					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1835C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	3.395	-0.123466	0.06795	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58506	0.33;1.59	5.65	4.72	0.59763	.	0.587141	0.15942	N	0.237126	T	0.44393	0.1291	L	0.49126	1.545	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.002;0.003	T	0.15407	-1.0438	10	0.23891	T	0.37	.	3.1454	0.06469	0.1387:0.1261:0.528:0.2072	.	612;612	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	612	ENSP00000356379:S612L;ENSP00000294732:S612L	ENSP00000294732:S612L	S	-	2	0	ASPM	195378170	0.016000	0.18221	0.923000	0.36655	0.097000	0.18754	1.897000	0.39799	2.819000	0.97034	0.643000	0.83706	TCA		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		33	127	0	0	0	0	33	127				
PLXNA2	5362	broad.mit.edu	37	1	208202360	208202360	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:208202360C>A	ENST00000367033.3	-	30	6010	c.5253G>T	c.(5251-5253)gtG>gtT	p.V1751V	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1751					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTAATCACGTTCACCC	0.562																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5251-5253)GTG>GTT		plexin A2 precursor							67.0	66.0	66.0					1																	208202360		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208202360C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5253G>T	1.37:g.208202360C>A						PLXNA2_uc001hgy.2_Silent_p.V21V	p.V1751V	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	30	6011	-			1751			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.5253G>T	CCDS31013.1																																																																																				0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		14	34	1	0	2e-07	2.17e-07	14	34				
RYR2	6262	broad.mit.edu	37	1	237780641	237780641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:237780641C>T	ENST00000366574.2	+	38	6088	c.5771C>T	c.(5770-5772)gCc>gTc	p.A1924V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1922V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1908V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1924	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGATAGAAGCCATTGTAGCC	0.433																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5770-5772)GCC>GTC		cardiac muscle ryanodine receptor							63.0	59.0	60.0					1																	237780641		1927	4137	6064	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780641C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5771C>T	1.37:g.237780641C>T	ENSP00000355533:p.Ala1924Val						p.A1924V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	5891	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1924			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5771C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475361	0.96291	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.82967	0.5152	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.58210	0.835	D	0.84779	0.0772	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1924	Q92736	RYR2_HUMAN	V	1924;1922;1908	ENSP00000355533:A1924V;ENSP00000353174:A1922V;ENSP00000443798:A1908V	ENSP00000353174:A1922V	A	+	2	0	RYR2	235847264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	22	0	0	0	0	6	22				
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:248112339C>T	ENST00000357191.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413																																						uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(178-180)TTC>TTT		olfactory receptor, family 2, subfamily L,							377.0	330.0	346.0					1																	248112339		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112339C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.180C>T	1.37:g.248112339C>T						OR2L13_uc001ids.2_Intron	p.F60F	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	180	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		60			Helical; Name=2; (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.180C>T	CCDS31101.1																																																																																				0.413	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			7	329	0	0	0	0	7	329				
KIAA1462	57608	broad.mit.edu	37	10	30316132	30316132	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316132G>C	ENST00000375377.1	-	3	3046	c.2945C>G	c.(2944-2946)tCa>tGa	p.S982*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	982					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCGTCACTTGATCTTGAAGA	0.527																																						uc001iux.2		NA																	0				ovary(4)	4						c.(2944-2946)TCA>TGA		hypothetical protein LOC57608							98.0	97.0	97.0					10																	30316132		2007	4166	6173	SO:0001587	stop_gained	57608							g.chr10:30316132G>C	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2945C>G	10.37:g.30316132G>C	ENSP00000364526:p.Ser982*					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.S844*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.S982*	p.S982*	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3004	-			982					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	c.2945C>G	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	39	7.467180	0.98302	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.17	-3.3	0.05003	.	1.893690	0.02324	N	0.073268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	2.0908	0.9894	0.01453	0.3754:0.0975:0.2354:0.2917	.	.	.	.	X	982	.	ENSP00000364526:S982X	S	-	2	0	KIAA1462	30356138	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	0.181000	0.16880	-0.573000	0.05998	0.563000	0.77884	TCA		0.527	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		29	91	0	0	0	0	29	91				
KIAA1462	57608	broad.mit.edu	37	10	30316271	30316271	+	Missense_Mutation	SNP	G	G	A	rs561305333	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316271G>A	ENST00000375377.1	-	3	2907	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	936					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R936C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCCACGCGAAAGCGGCCC	0.607																																						uc001iux.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(2806-2808)CGC>TGC		hypothetical protein LOC57608							43.0	46.0	45.0					10																	30316271		2086	4216	6302	SO:0001583	missense	57608							g.chr10:30316271G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2806C>T	10.37:g.30316271G>A	ENSP00000364526:p.Arg936Cys					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R798C|KIAA1462_uc009xle.1_Missense_Mutation_p.R936C	p.R936C	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2865	-			936					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2806C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253267	0.39797	.	.	ENSG00000165757	ENST00000375377	T	0.11712	2.75	5.3	1.26	0.21427	.	1.135720	0.06562	N	0.746938	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.49953	0.627	T	0.36744	-0.9735	10	0.46703	T	0.11	1.0433	7.6308	0.28238	0.0598:0.097:0.5444:0.2988	.	936	Q9P266	K1462_HUMAN	C	936	ENSP00000364526:R936C	ENSP00000364526:R936C	R	-	1	0	KIAA1462	30356277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.615000	0.24329	-0.243000	0.09653	-1.119000	0.02030	CGC		0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	44	0	0	0	0	12	44				
OGDHL	55753	broad.mit.edu	37	10	50952744	50952744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:50952744C>T	ENST00000374103.4	-	13	1769	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	OGDHL_ENST00000432695.1_Missense_Mutation_p.D353N|OGDHL_ENST00000419399.1_Missense_Mutation_p.D505N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	562					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCTTTTTATCCTTGGACCTG	0.537																																						uc001jie.2		NA																	0				pancreas(1)	1						c.(1684-1686)GAT>AAT		oxoglutarate dehydrogenase-like isoform a							135.0	129.0	131.0					10																	50952744		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952744C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1684G>A	10.37:g.50952744C>T	ENSP00000363216:p.Asp562Asn					OGDHL_uc009xog.2_Missense_Mutation_p.D589N|OGDHL_uc010qgt.1_Missense_Mutation_p.D505N|OGDHL_uc010qgu.1_Missense_Mutation_p.D353N|OGDHL_uc009xoh.2_Missense_Mutation_p.D353N	p.D562N	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			13	1826	-			562					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1684G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325985	0.81580	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95756	2.57;2.57;-3.8	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	N	0.25332	0.735	0.80722	D	1	B;B;B	0.24651	0.089;0.009;0.108	B;B;B	0.28709	0.056;0.021;0.093	D	0.89018	0.3433	10	0.54805	T	0.06	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	505;353;562	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	N	562;505;353	ENSP00000363216:D562N;ENSP00000401356:D505N;ENSP00000390240:D353N	ENSP00000363216:D562N	D	-	1	0	OGDHL	50622750	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAT		0.537	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		15	44	0	0	0	0	15	44				
ANK3	288	broad.mit.edu	37	10	61834987	61834987	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:61834987G>T	ENST00000280772.2	-	37	5843	c.5652C>A	c.(5650-5652)ccC>ccA	p.P1884P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1884	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGGCAGAGGGTGCAAGGA	0.443																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5650-5652)CCC>CCA		ankyrin 3 isoform 1							163.0	140.0	148.0					10																	61834987		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834987G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5652C>A	10.37:g.61834987G>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.P1884P	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5844	-			1884			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5652C>A	CCDS7258.1																																																																																				0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	56	1	0	1.13e-05	1.19e-05	7	56				
PAPSS2	9060	broad.mit.edu	37	10	89474820	89474820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:89474820G>A	ENST00000361175.4	+	6	1087	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E244K|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E240K	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	240					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTCCGAGCTGAGGCTGAAAC	0.363																																						uc001kex.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(718-720)GAG>AAG		3'-phosphoadenosine 5'-phosphosulfate synthase 2							71.0	66.0	68.0					10																	89474820		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89474820G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.718G>A	10.37:g.89474820G>A	ENSP00000354436:p.Glu240Lys					PAPSS2_uc001kew.2_Missense_Mutation_p.E240K|PAPSS2_uc009xtg.1_RNA	p.E240K	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	6	981	+		Melanoma(5;0.019)|Colorectal(252;0.123)	240			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.718G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417032	0.62511	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.24538	1.85;1.85;1.85	6.06	5.15	0.70609	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.133569	0.64402	D	0.000002	T	0.35828	0.0945	M	0.74546	2.27	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.29862	0.108;0.025	T	0.18366	-1.0339	10	0.59425	D	0.04	-33.2503	15.6503	0.77088	0.0663:0.0:0.9337:0.0	.	240;240	O95340;O95340-2	PAPS2_HUMAN;.	K	240;240;244;239	ENSP00000354436:E240K;ENSP00000406157:E240K;ENSP00000397123:E244K	ENSP00000354436:E240K	E	+	1	0	PAPSS2	89464800	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	6.351000	0.73022	2.882000	0.98803	0.655000	0.94253	GAG		0.363	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			15	26	0	0	0	0	15	26				
PSD	5662	broad.mit.edu	37	10	104164418	104164418	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:104164418G>A	ENST00000020673.5	-	15	3148	c.2622C>T	c.(2620-2622)ccC>ccT	p.P874P	PSD_ENST00000406432.1_Silent_p.P874P	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	874					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGGGAAGGGGGGCGCAGAGA	0.617																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(2620-2622)CCC>CCT		pleckstrin and Sec7 domain containing							121.0	128.0	126.0					10																	104164418		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164418G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2622C>T	10.37:g.104164418G>A						PSD_uc001kve.1_Silent_p.P82P|PSD_uc001kvf.1_Silent_p.P243P|PSD_uc001kvh.1_Silent_p.P495P|PSD_uc009xxd.1_Silent_p.P874P	p.P874P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3149	-			874					B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.2622C>T	CCDS31272.1																																																																																				0.617	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			35	99	0	0	0	0	35	99				
SCGB1C1	147199	broad.mit.edu	37	11	193783	193783	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:193783G>A	ENST00000342878.2	+	2	147	c.127G>A	c.(127-129)Gag>Aag	p.E43K	ODF3_ENST00000325113.4_5'Flank|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_5'Flank	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	43						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGGACCCCAGAGGAGCTCTA	0.532																																						uc001loa.1		NA																	0				skin(1)	1						c.(127-129)GAG>AAG		secretoglobin, family 1C, member 1 precursor							81.0	91.0	88.0					11																	193783		2029	4183	6212	SO:0001583	missense	147199					extracellular region	binding	g.chr11:193783G>A	AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"""Secretoglobins"""	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.127G>A	11.37:g.193783G>A	ENSP00000344545:p.Glu43Lys					ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank	p.E43K	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	147	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	43					A8MSI9|Q14DW0	Missense_Mutation	SNP	ENST00000342878.2	37	c.127G>A	CCDS41581.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.909132	0.52439	.	.	ENSG00000188076	ENST00000342878	T	0.48201	0.82	5.12	4.19	0.49359	.	0.270270	0.31963	N	0.006793	T	0.32224	0.0822	.	.	.	0.31638	N	0.648197	B	0.22211	0.066	B	0.25987	0.065	T	0.24440	-1.0160	9	0.25751	T	0.34	-29.0523	8.8776	0.35354	0.1009:0.0:0.8991:0.0	.	43	Q8TD33	SG1C1_HUMAN	K	43	ENSP00000344545:E43K	ENSP00000344545:E43K	E	+	1	0	SCGB1C1	183783	0.990000	0.36364	0.927000	0.36925	0.962000	0.63368	3.017000	0.49615	2.569000	0.86673	0.561000	0.74099	GAG		0.532	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384759.1	NM_145651		5	50	0	0	0	0	5	50				
KCNA4	3739	broad.mit.edu	37	11	30033675	30033675	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:30033675C>G	ENST00000328224.6	-	2	1784	c.551G>C	c.(550-552)gGc>gCc	p.G184A	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	184					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AAAGCGTAGGCCTGACACATT	0.512																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(550-552)GGC>GCC		potassium voltage-gated channel, shaker-related							71.0	70.0	70.0					11																	30033675		2093	4205	6298	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033675C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.551G>C	11.37:g.30033675C>G	ENSP00000328511:p.Gly184Ala						p.G184A	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1703	-			184						Missense_Mutation	SNP	ENST00000328224.6	37	c.551G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241042	0.79912	.	.	ENSG00000182255	ENST00000328224	D	0.95518	-3.73	4.66	4.66	0.58398	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99208	1.0875	10	0.87932	D	0	.	17.5713	0.87935	0.0:1.0:0.0:0.0	.	184	P22459	KCNA4_HUMAN	A	184	ENSP00000328511:G184A	ENSP00000328511:G184A	G	-	2	0	KCNA4	29990251	1.000000	0.71417	0.930000	0.37139	0.977000	0.68977	7.787000	0.85759	2.145000	0.66743	0.561000	0.74099	GGC		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	47	0	0	0	0	10	47				
C11orf68	83638	broad.mit.edu	37	11	65685181	65685181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:65685181G>A	ENST00000530188.1	-	1	650	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	DRAP1_ENST00000532933.1_5'Flank|C11orf68_ENST00000438576.2_Missense_Mutation_p.R211C|DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.R210C|DRAP1_ENST00000527119.1_5'Flank|DRAP1_ENST00000376991.2_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	169							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		ATGACCTGGCGCCCACCCTCC	0.637																																						uc001ogi.2		NA																	0					0						c.(631-633)CGC>TGC		basophilic leukemia expressed protein BLES03							49.0	48.0	48.0					11																	65685181		2201	4296	6497	SO:0001583	missense	83638							g.chr11:65685181G>A	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.505C>T	11.37:g.65685181G>A	ENSP00000433914:p.Arg169Cys					C11orf68_uc009yqv.2_Missense_Mutation_p.R210C|DRAP1_uc001ogj.1_5'Flank	p.R211C	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	660	-			169					J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37	c.631C>T		.	.	.	.	.	.	.	.	.	.	G	18.63	3.665869	0.67700	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.43688	0.94;0.94;0.94	4.72	3.81	0.43845	Translation Initiation factor eIF- 4e-like  domain (2);	0.115996	0.50627	D	0.000106	T	0.33089	0.0851	L	0.46157	1.445	0.50313	D	0.999865	B;B	0.23442	0.069;0.085	B;B	0.20384	0.017;0.029	T	0.21759	-1.0236	10	0.72032	D	0.01	-14.833	6.4781	0.22047	0.0942:0.0:0.7278:0.178	.	210;169	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	C	211;210;169	ENSP00000398350:R211C;ENSP00000409681:R210C;ENSP00000433914:R169C	ENSP00000398350:R211C	R	-	1	0	C11orf68	65441757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.777000	0.55364	1.124000	0.41980	0.462000	0.41574	CGC		0.637	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		8	30	0	0	0	0	8	30				
GRIA4	2893	broad.mit.edu	37	11	105797542	105797542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:105797542C>A	ENST00000530497.1	+	12	1923	c.1923C>A	c.(1921-1923)aaC>aaA	p.N641K	GRIA4_ENST00000393127.2_Missense_Mutation_p.N641K|GRIA4_ENST00000282499.5_Missense_Mutation_p.N641K|GRIA4_ENST00000525187.1_Missense_Mutation_p.N641K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	641					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATACTGCTAACCTCGCTGCTT	0.428																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1921-1923)AAC>AAA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						136.0	133.0	134.0					11																	105797542		2202	4298	6500	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797542C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1923C>A	11.37:g.105797542C>A	ENSP00000435775:p.Asn641Lys					GRIA4_uc001piw.2_Missense_Mutation_p.N641K	p.N641K	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2369	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	641			Helical; (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1923C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767329	0.69878	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.76	2.81	0.32909	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.92507	3.315	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.966	T	0.80341	-0.1423	10	0.87932	D	0	.	9.1458	0.36933	0.0:0.6413:0.0:0.3587	.	641;641	P48058;G3V164	GRIA4_HUMAN;.	K	641	ENSP00000282499:N641K;ENSP00000376835:N641K;ENSP00000435775:N641K;ENSP00000432180:N641K	ENSP00000282499:N641K	N	+	3	2	GRIA4	105302752	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.716000	0.37981	0.872000	0.35775	0.655000	0.94253	AAC		0.428	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	42	1	0	1.59e-06	1.71e-06	8	42				
RNF214	257160	broad.mit.edu	37	11	117152363	117152363	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:117152363G>A	ENST00000531452.1	+	10	1330	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	RNF214_ENST00000530849.1_Silent_p.L273L|RNF214_ENST00000300650.4_Silent_p.L428L|RNF214_ENST00000531287.1_Silent_p.L273L|RNF214_ENST00000524917.1_3'UTR	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	428							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGCCAAGCTGAGCAGCCTTC	0.453																																						uc001pqt.2		NA																	0					0						c.(1282-1284)CTG>CTA		ring finger protein 214							182.0	174.0	177.0					11																	117152363		1884	4116	6000	SO:0001819	synonymous_variant	257160						zinc ion binding	g.chr11:117152363G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1284G>A	11.37:g.117152363G>A						RNF214_uc001pqu.2_Silent_p.L428L|RNF214_uc010rxf.1_Silent_p.L273L	p.L428L	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1329	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	428					B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	c.1284G>A	CCDS41720.1																																																																																				0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		25	125	0	0	0	0	25	125				
VPS11	55823	broad.mit.edu	37	11	118948900	118948900	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:118948900C>A	ENST00000300793.6	+	12	1818	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	593					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGAGGAGTTCATCCCCATCT	0.532																																						uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1777-1779)TTC>TTA		vacuolar protein sorting 11							149.0	150.0	150.0					11																	118948900		1984	4159	6143	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948900C>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1776C>A	11.37:g.118948900C>A	ENSP00000475301:p.Phe592Leu					VPS11_uc010ryy.1_Missense_Mutation_p.F439L	p.F593L	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	12	1821	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	593					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1779C>A																																																																																					0.532	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		32	134	1	0	4.32e-10	4.83e-10	32	134				
TECTA	7007	broad.mit.edu	37	11	121000377	121000377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:121000377T>C	ENST00000392793.1	+	10	2669	c.2398T>C	c.(2398-2400)Ttc>Ctc	p.F800L	TECTA_ENST00000264037.2_Missense_Mutation_p.F800L			O75443	TECTA_HUMAN	tectorin alpha	800	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGCCTTTTTTCCATCCTTC	0.438																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(2398-2400)TTC>CTC		tectorin alpha precursor							158.0	159.0	159.0					11																	121000377		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000377T>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2398T>C	11.37:g.121000377T>C	ENSP00000376543:p.Phe800Leu						p.F800L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2398	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	800			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2398T>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.301138	0.23650	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59083	0.29;0.29	5.39	5.39	0.77823	von Willebrand factor, type D domain (3);	0.127829	0.53938	D	0.000042	T	0.48677	0.1513	L	0.43152	1.355	0.35027	D	0.758381	B	0.09022	0.002	B	0.13407	0.009	T	0.53823	-0.8384	10	0.11794	T	0.64	.	15.4177	0.74983	0.0:0.0:0.0:1.0	.	800	O75443	TECTA_HUMAN	L	800	ENSP00000376543:F800L;ENSP00000264037:F800L	ENSP00000264037:F800L	F	+	1	0	TECTA	120505587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.481000	0.60250	2.061000	0.61500	0.460000	0.39030	TTC		0.438	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		25	69	0	0	0	0	25	69				
GRIN2B	2904	broad.mit.edu	37	12	13715902	13715902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:13715902G>A	ENST00000609686.1	-	13	4479	c.4270C>T	c.(4270-4272)Ctt>Ttt	p.L1424F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1424					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGTGACAAGGGCCCGGAAG	0.622																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4270-4272)CTT>TTT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715902G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4270C>T	12.37:g.13715902G>A	ENSP00000477455:p.Leu1424Phe						p.L1424F	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4449	-			1424			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4270C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	8.686	0.906322	0.17833	.	.	ENSG00000150086	ENST00000279593	T	0.12147	2.71	5.23	4.27	0.50696	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.316312	0.29486	N	0.012005	T	0.06645	0.0170	N	0.08118	0	0.31193	N	0.700708	B	0.29590	0.25	B	0.32677	0.15	T	0.16988	-1.0384	10	0.09338	T	0.73	.	10.7021	0.45933	0.0:0.0:0.7165:0.2835	.	1424	Q13224	NMDE2_HUMAN	F	1424	ENSP00000279593:L1424F	ENSP00000279593:L1424F	L	-	1	0	GRIN2B	13607169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.750000	0.55157	2.716000	0.92895	0.655000	0.94253	CTT		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	27	0	0	0	0	13	27				
DDX11	1663	broad.mit.edu	37	12	31242845	31242845	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:31242845G>A	ENST00000407793.2	+	9	1157	c.906G>A	c.(904-906)gaG>gaA	p.E302E	DDX11_ENST00000545668.1_Silent_p.E302E|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.E302E|DDX11_ENST00000228264.6_Silent_p.E276E|DDX11_ENST00000350437.4_Silent_p.E302E	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	302	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGAGGAGGAGAAGCCAAAGA	0.587										Multiple Myeloma(12;0.14)																												uc001rjt.1		NA																	0				breast(3)	3						c.(904-906)GAG>GAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							9.0	14.0	12.0					12																	31242845		2168	4258	6426	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31242845G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.906G>A	12.37:g.31242845G>A		Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.E302E|DDX11_uc001rjs.1_Silent_p.E302E|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.E302E|DDX11_uc001rjw.1_Silent_p.E276E|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	p.E302E	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			9	1157	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		302			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.906G>A	CCDS44856.1																																																																																				0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		6	8	0	0	0	0	6	8				
FMNL3	91010	broad.mit.edu	37	12	50043581	50043581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:50043581C>G	ENST00000293590.5	-	18	2361	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	FMNL3_ENST00000335154.5_Missense_Mutation_p.E710Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.E710Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.E659Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	710	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AAGCGGTCCTCAGCTGCCAAC	0.602																																						uc001ruv.1		NA																	0				breast(2)|pancreas(2)	4						c.(2128-2130)GAG>CAG		formin-like 3 isoform 1							57.0	64.0	62.0					12																	50043581		2127	4234	6361	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50043581C>G	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2128G>C	12.37:g.50043581C>G	ENSP00000293590:p.Glu710Gln					FMNL3_uc001ruw.1_Missense_Mutation_p.E659Q|FMNL3_uc001rut.1_Missense_Mutation_p.E276Q|FMNL3_uc001ruu.1_Missense_Mutation_p.E560Q	p.E710Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			18	2362	-			710			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.2128G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.108844	0.94292	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.76433	2.335	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.83275	0.99;0.991;0.996	T	0.33420	-0.9869	10	0.62326	D	0.03	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	659;710;710	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	710;710;659;710	ENSP00000335655:E710Q;ENSP00000447479:E710Q;ENSP00000344311:E659Q;ENSP00000293590:E710Q	ENSP00000293590:E710Q	E	-	1	0	FMNL3	48329848	1.000000	0.71417	0.982000	0.44146	0.940000	0.58332	7.770000	0.85390	2.723000	0.93209	0.655000	0.94253	GAG		0.602	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		18	63	0	0	0	0	18	63				
PLXNC1	10154	broad.mit.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:94641745C>T	ENST00000258526.4	+	13	2704	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R819C(2)|p.R819G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAAAGTGCGCACGAATGT	0.463																																						uc001tdc.2		NA																	3	Substitution - Missense(3)		large_intestine(2)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2455-2457)CGC>TGC		plexin C1 precursor							111.0	112.0	111.0					12																	94641745		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641745C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2455C>T	12.37:g.94641745C>T	ENSP00000258526:p.Arg819Cys						p.R819C	NM_005761	NP_005752	O60486	PLXC1_HUMAN			13	2704	+			819			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2455C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409414	0.42715	.	.	ENSG00000136040	ENST00000258526	T	0.77620	-1.11	6.16	5.23	0.72850	Cell surface receptor IPT/TIG (2);	0.603397	0.18399	N	0.142409	T	0.75042	0.3796	N	0.24115	0.695	0.37752	D	0.925999	D	0.61697	0.99	P	0.54210	0.745	T	0.77451	-0.2583	10	0.52906	T	0.07	.	13.2798	0.60208	0.0:0.7679:0.2321:0.0	.	819	O60486	PLXC1_HUMAN	C	819	ENSP00000258526:R819C	ENSP00000258526:R819C	R	+	1	0	PLXNC1	93165876	0.000000	0.05858	0.010000	0.14722	0.131000	0.20780	0.649000	0.24843	2.937000	0.99478	0.650000	0.86243	CGC		0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			17	62	0	0	0	0	17	62				
C12orf42	374470	broad.mit.edu	37	12	103795437	103795437	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:103795437A>C	ENST00000378113.2	-	3	320	c.95T>G	c.(94-96)aTt>aGt	p.I32S	C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.I32S|C12orf42_ENST00000315192.8_Missense_Mutation_p.I32S|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	32										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CACAATGGGAATATAGCAAGG	0.443																																						uc001tjt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(94-96)ATT>AGT		hypothetical protein LOC374470							72.0	76.0	75.0					12																	103795437		2177	4279	6456	SO:0001583	missense	374470							g.chr12:103795437A>C	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.95T>G	12.37:g.103795437A>C	ENSP00000367353:p.Ile32Ser					C12orf42_uc001tjs.2_RNA|C12orf42_uc009zuf.1_Missense_Mutation_p.I32S|C12orf42_uc001tju.2_5'UTR	p.I32S	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			3	183	-			32					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.95T>G	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303011	0.23736	.	.	ENSG00000179088	ENST00000315192;ENST00000548883;ENST00000378113;ENST00000552578	T;T;T;T	0.57907	0.37;0.98;0.98;0.97	5.0	2.56	0.30785	.	1.483870	0.04785	N	0.430597	T	0.51109	0.1655	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.54210	0.745	T	0.38542	-0.9656	10	0.87932	D	0	-0.0191	5.2219	0.15373	0.7236:0.1811:0.0952:0.0	.	32	Q96LP6	CL042_HUMAN	S	32	ENSP00000324984:I32S;ENSP00000447908:I32S;ENSP00000367353:I32S;ENSP00000447795:I32S	ENSP00000324984:I32S	I	-	2	0	C12orf42	102319567	0.013000	0.17824	0.004000	0.12327	0.033000	0.12548	1.220000	0.32491	0.421000	0.25980	0.533000	0.62120	ATT		0.443	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		7	18	0	0	0	0	7	18				
MYO1H	283446	broad.mit.edu	37	12	109845600	109845600	+	Splice_Site	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:109845600T>C	ENST00000431443.2	+	9	989	c.989T>C	c.(988-990)gTg>gCg	p.V330A	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000310903.5_Splice_Site_p.V330A	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	330	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						TCTTTTCAGGTGATCTGCCCG	0.383																																						uc010sxn.1		NA																	0					0						c.(988-990)GTG>GCG		myosin 1H							100.0	88.0	92.0					12																	109845600		1872	4110	5982	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109845600T>C		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.988-1T>C	12.37:g.109845600T>C							p.V330A	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			9	989	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.989T>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.472945	0.84640	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.90197	-2.63;-2.63	4.89	4.89	0.63831	.	.	.	.	.	D	0.95900	0.8665	M	0.90019	3.08	0.48135	D	0.999591	D	0.89917	1.0	D	0.87578	0.998	D	0.96694	0.9513	9	0.87932	D	0	.	14.0253	0.64582	0.0:0.0:0.0:1.0	.	330	F5H3C6	.	A	330	ENSP00000439182:V330A;ENSP00000444076:V330A	ENSP00000439182:V330A	V	+	2	0	MYO1H	108329983	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.733000	0.84916	1.983000	0.57843	0.254000	0.18369	GTG		0.383	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Missense_Mutation	8	31	0	0	0	0	8	31				
GCN1L1	10985	broad.mit.edu	37	12	120588998	120588998	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:120588998C>A	ENST00000300648.6	-	34	4272	c.4260G>T	c.(4258-4260)gcG>gcT	p.A1420A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1420					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTCAGTGCCGCCATCATCT	0.612																																						uc001txo.2		NA																	0				ovary(4)	4						c.(4258-4260)GCG>GCT		GCN1 general control of amino-acid synthesis							65.0	72.0	69.0					12																	120588998		2139	4221	6360	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120588998C>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4260G>T	12.37:g.120588998C>A							p.A1420A	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			34	4273	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1420					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.4260G>T	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			11	62	1	0	0.000978159	0.00100505	11	62				
C1QTNF9B	387911	broad.mit.edu	37	13	24465689	24465689	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:24465689C>A	ENST00000382140.2	-	5	801	c.741G>T	c.(739-741)ggG>ggT	p.G247G	C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382137.3_Silent_p.G247G|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	247	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGTAATAGACCCCAGCAATGT	0.408																																						uc010tcw.1		NA																	0					0						c.(739-741)GGG>GGT		C1q and tumor necrosis factor related protein 9B							159.0	141.0	147.0					13																	24465689		2203	4300	6503	SO:0001819	synonymous_variant	387911					collagen		g.chr13:24465689C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.741G>T	13.37:g.24465689C>A						MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Intron|PCOTH_uc009zzx.2_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.G247G	p.G247G	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN			3	741	-			247			C1q.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	c.741G>T	CCDS31947.1																																																																																				0.408	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		17	105	1	0	2.23e-06	2.39e-06	17	105				
RXFP2	122042	broad.mit.edu	37	13	32367045	32367045	+	Missense_Mutation	SNP	C	C	T	rs142857153	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:32367045C>T	ENST00000298386.2	+	16	1677	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	RXFP2_ENST00000380314.1_Missense_Mutation_p.R512W	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	536					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACCTGGAAAACGGCAGACCTC	0.428													C|||	19	0.00379393	0.0144	0.0	5008	,	,		18707	0.0		0.0	False		,,,				2504	0.0					uc001utt.2		NA																	0					0						c.(1606-1608)CGG>TGG		relaxin/insulin-like family peptide receptor 2		C	TRP/ARG,TRP/ARG	46,4360	49.6+/-84.7	0,46,2157	96.0	88.0	90.0		1534,1606	0.9	0.4	13	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	RXFP2	NM_001166058.1,NM_130806.3	101,101	0,46,6457	TT,TC,CC		0.0,1.044,0.3537	benign,benign	512/731,536/755	32367045	46,12960	2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32367045C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1606C>T	13.37:g.32367045C>T	ENSP00000298386:p.Arg536Trp					RXFP2_uc010aba.2_Missense_Mutation_p.R495W	p.R536W	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1677	+		Lung SC(185;0.0262)	536			Cytoplasmic (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1606C>T	CCDS9342.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.714976	0.30413	0.01044	0.0	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.42900	0.96;0.96	5.73	0.901	0.19284	GPCR, rhodopsin-like superfamily (1);	0.530450	0.20403	N	0.093011	T	0.27098	0.0664	L	0.59436	1.845	0.39838	D	0.973075	B;B	0.18863	0.031;0.031	B;B	0.21546	0.035;0.035	T	0.08785	-1.0705	10	0.49607	T	0.09	.	5.9309	0.19138	0.1229:0.6089:0.0:0.2683	.	512;536	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	W	512;536	ENSP00000369670:R512W;ENSP00000298386:R536W	ENSP00000298386:R536W	R	+	1	2	RXFP2	31265045	0.000000	0.05858	0.365000	0.25901	0.907000	0.53573	-0.809000	0.04510	-0.148000	0.11234	-0.140000	0.14226	CGG		0.428	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		7	31	0	0	0	0	7	31				
SLC15A1	6564	broad.mit.edu	37	13	99376168	99376168	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:99376168G>A	ENST00000376503.5	-	5	418	c.363C>T	c.(361-363)caC>caT	p.H121H		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	121					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAACTCACACGTGCACAGGAA	0.512																																						uc001vno.2		NA																	0				ovary(1)	1						c.(361-363)CAC>CAT		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						232.0	172.0	193.0					13																	99376168		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99376168G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.363C>T	13.37:g.99376168G>A						SLC15A1_uc001vnp.1_Silent_p.H89H	p.H121H	NM_005073	NP_005064	P46059	S15A1_HUMAN			5	440	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		121			Helical; (Potential).		Q5VW82	Silent	SNP	ENST00000376503.5	37	c.363C>T	CCDS9489.1																																																																																				0.512	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		7	35	0	0	0	0	7	35				
RPGRIP1	57096	broad.mit.edu	37	14	21788328	21788328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:21788328C>G	ENST00000400017.2	+	11	1459	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q129E|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.Q487E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q460E|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q460E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	487					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448																																						uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(1459-1461)CAG>GAG		retinitis pigmentosa GTPase regulator							54.0	52.0	52.0					14																	21788328		1924	4140	6064	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21788328C>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1459C>G	14.37:g.21788328C>G	ENSP00000382895:p.Gln487Glu					RPGRIP1_uc001wah.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001wai.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.2_5'Flank|RPGRIP1_uc010aim.2_5'Flank|RPGRIP1_uc001wal.2_5'Flank	p.Q487E	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	11	1459	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	487			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1459C>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	7.355	0.623672	0.14193	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.74106	-0.09;-0.77;-0.81;-0.81;-0.42	5.11	3.11	0.35812	.	0.930029	0.09155	N	0.841053	T	0.68155	0.2970	M	0.63428	1.95	0.20489	N	0.999892	B;B;B	0.32101	0.356;0.259;0.04	B;B;B	0.33454	0.164;0.047;0.009	T	0.54990	-0.8210	10	0.07644	T	0.81	-1.9001	9.9345	0.41543	0.3699:0.6301:0.0:0.0	.	129;103;487	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	E	460;460;487;487;129;154	ENSP00000450445:Q460E;ENSP00000451219:Q460E;ENSP00000382895:Q487E;ENSP00000206660:Q487E;ENSP00000372391:Q129E	ENSP00000206660:Q487E	Q	+	1	0	RPGRIP1	20858168	0.002000	0.14202	0.033000	0.17914	0.007000	0.05969	0.253000	0.18296	1.470000	0.48102	0.557000	0.71058	CAG		0.448	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		3	20	0	0	0	0	3	20				
SERPINA1	5265	broad.mit.edu	37	14	94847230	94847230	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:94847230A>C	ENST00000448921.1	-	5	1467	c.895T>G	c.(895-897)Ttc>Gtc	p.F299V	SERPINA1_ENST00000437397.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.F299V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	299					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTTTCCAGGAACTTGGTGATG	0.517																																						uc001ycx.3		NA																	0				skin(1)	1						c.(895-897)TTC>GTC		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						146.0	149.0	148.0					14																	94847230		2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847230A>C	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.895T>G	14.37:g.94847230A>C	ENSP00000416066:p.Phe299Val					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.F299V|SERPINA1_uc010aux.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycy.3_Missense_Mutation_p.F299V|SERPINA1_uc010auy.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycz.3_Missense_Mutation_p.F299V|SERPINA1_uc010auz.2_Missense_Mutation_p.F299V|SERPINA1_uc010ava.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydb.3_Missense_Mutation_p.F299V|SERPINA1_uc010avb.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydc.3_Missense_Mutation_p.F299V|SERPINA1_uc001yda.1_Missense_Mutation_p.F299V	p.F299V	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1156	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	299					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.895T>G	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787582	0.31593	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.78	-0.767	0.11016	Serpin domain (3);	0.442562	0.23842	N	0.044034	T	0.74876	0.3774	L	0.52364	1.645	0.09310	N	1	B;B	0.21309	0.054;0.041	B;B	0.31442	0.079;0.13	T	0.65631	-0.6121	10	0.72032	D	0.01	.	3.7531	0.08575	0.4152:0.3865:0.0736:0.1247	.	299;299	P01009-2;P01009	.;A1AT_HUMAN	V	299	ENSP00000390299:F299V;ENSP00000416066:F299V;ENSP00000408474:F299V;ENSP00000348068:F299V;ENSP00000376802:F299V;ENSP00000376803:F299V;ENSP00000385960:F299V;ENSP00000416354:F299V;ENSP00000386094:F299V	ENSP00000348068:F299V	F	-	1	0	SERPINA1	93916983	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.146000	0.10250	-0.199000	0.10317	0.454000	0.30748	TTC		0.517	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		10	70	0	0	0	0	10	70				
CLMN	79789	broad.mit.edu	37	14	95658065	95658065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:95658065C>T	ENST00000298912.4	-	13	2958	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	CLMN_ENST00000557215.1_5'UTR|CLMN_ENST00000556441.1_Splice_Site_p.A14T	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	949					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGCTGTTGGCCTTCCTACAG	0.567																																						uc001yef.2		NA																	0					0						c.(2845-2847)GCC>ACC		calmin							69.0	70.0	70.0					14																	95658065		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95658065C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2845G>A	14.37:g.95658065C>T	ENSP00000298912:p.Ala949Thr						p.A949T	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	13	2961	-			949					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2845G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995441	0.35226	.	.	ENSG00000165959	ENST00000298912;ENST00000556441	D;T	0.92595	-3.07;0.84	5.27	2.35	0.29111	.	0.386766	0.19047	N	0.124147	D	0.84911	0.5577	L	0.42245	1.32	0.24012	N	0.99618	B	0.24721	0.11	B	0.17979	0.02	T	0.72786	-0.4188	10	0.37606	T	0.19	.	3.3049	0.06996	0.1813:0.55:0.1751:0.0937	.	949	Q96JQ2	CLMN_HUMAN	T	949;14	ENSP00000298912:A949T;ENSP00000452305:A14T	ENSP00000298912:A949T	A	-	1	0	CLMN	94727818	0.986000	0.35501	0.998000	0.56505	0.550000	0.35303	0.839000	0.27586	0.563000	0.29222	-0.314000	0.08810	GCC		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			9	39	0	0	0	0	9	39				
TUBGCP5	114791	broad.mit.edu	37	15	22861874	22861874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:22861874G>A	ENST00000283645.4	+	14	2024	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A632T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	632					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTCCATTGCTGAAAGCCA	0.458																																						uc001yur.3		NA																	0				skin(1)	1						c.(1894-1896)GCT>ACT		tubulin, gamma complex associated protein 5							163.0	137.0	146.0					15																	22861874		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22861874G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1894G>A	15.37:g.22861874G>A	ENSP00000283645:p.Ala632Thr					TUBGCP5_uc001yuq.2_Missense_Mutation_p.A632T|TUBGCP5_uc010axz.1_Missense_Mutation_p.A219T	p.A632T	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	14	2024	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	632					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1894G>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378320	0.61735	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.23552	1.9;1.9	4.97	4.97	0.65823	.	0.182907	0.48286	D	0.000188	T	0.20780	0.0500	N	0.19112	0.55	0.38773	D	0.95459	P;P;P	0.39920	0.695;0.695;0.695	B;B;B	0.40741	0.339;0.339;0.339	T	0.05007	-1.0912	10	0.20519	T	0.43	-17.0139	18.7714	0.91893	0.0:0.0:1.0:0.0	.	632;632;632	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	T	632	ENSP00000283645:A632T;ENSP00000409217:A632T	ENSP00000283645:A632T	A	+	1	0	TUBGCP5	20413315	1.000000	0.71417	0.967000	0.41034	0.984000	0.73092	5.681000	0.68175	2.736000	0.93811	0.561000	0.74099	GCT		0.458	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		11	70	0	0	0	0	11	70				
RYR3	6263	broad.mit.edu	37	15	34115205	34115205	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:34115205A>G	ENST00000389232.4	+	81	11074	c.11004A>G	c.(11002-11004)ctA>ctG	p.L3668L	RYR3_ENST00000415757.3_Silent_p.L3663L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3668					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAAATGCTAGATTACCTAA	0.433																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(11002-11004)CTA>CTG		ryanodine receptor 3							104.0	98.0	100.0					15																	34115205		1846	4111	5957	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34115205A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11004A>G	15.37:g.34115205A>G						RYR3_uc010bar.2_Silent_p.L3663L	p.L3668L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	81	11074	+		all_lung(180;7.18e-09)	3668					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11004A>G	CCDS45210.1																																																																																				0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	34	0	0	0	0	5	34				
CEP152	22995	broad.mit.edu	37	15	49052415	49052415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:49052415G>A	ENST00000380950.2	-	19	2798	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	CEP152_ENST00000399334.3_Missense_Mutation_p.P871S|CEP152_ENST00000325747.5_Missense_Mutation_p.P778S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	871					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCAGCTCTGGTAGTTCTCCC	0.428																																						uc001zwy.2		NA																	0				lung(2)	2						c.(2611-2613)CCA>TCA		centrosomal protein 152kDa							142.0	138.0	139.0					15																	49052415		1901	4118	6019	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49052415G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2611C>T	15.37:g.49052415G>A	ENSP00000370337:p.Pro871Ser					CEP152_uc001zwz.2_Missense_Mutation_p.P871S|CEP152_uc001zxa.1_Missense_Mutation_p.P778S	p.P871S	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	19	2645	-		all_lung(180;0.0428)	871					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2611C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701742	0.48307	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.52526	0.66;0.69;0.7	4.66	3.73	0.42828	.	0.182532	0.45606	D	0.000349	T	0.58949	0.2158	M	0.68317	2.08	0.27086	N	0.962978	D;P;D	0.89917	1.0;0.872;0.995	D;P;P	0.87578	0.998;0.578;0.859	T	0.50533	-0.8817	10	0.15952	T	0.53	-12.4692	7.4715	0.27351	0.0:0.1583:0.5438:0.2979	.	778;871;871	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	871;778;871	ENSP00000370337:P871S;ENSP00000321000:P778S;ENSP00000382271:P871S	ENSP00000321000:P778S	P	-	1	0	CEP152	46839707	1.000000	0.71417	0.727000	0.30756	0.835000	0.47333	3.406000	0.52637	1.142000	0.42291	0.655000	0.94253	CCA		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		17	66	0	0	0	0	17	66				
RNF111	54778	broad.mit.edu	37	15	59350644	59350644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:59350644C>T	ENST00000557998.1	+	5	1548	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.Q421*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q421*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	421	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TACCTCTGAGCAGGCCTCTGA	0.443																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NA																	0				ovary(2)	2						c.(1261-1263)CAG>TAG		ring finger protein 111							252.0	251.0	251.0					15																	59350644		2192	4291	6483	SO:0001587	stop_gained	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350644C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1261C>T	15.37:g.59350644C>T	ENSP00000452732:p.Gln421*					RNF111_uc002afs.2_Nonsense_Mutation_p.Q421*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q421*	p.Q421*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1540	+			421			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	c.1261C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	41	8.667015	0.98908	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.98	5.98	0.97165	.	0.181870	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.4755	19.4247	0.94737	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000288199:Q421X	Q	+	1	0	RNF111	57137936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.921000	0.70028	2.843000	0.97960	0.585000	0.79938	CAG		0.443	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		19	207	0	0	0	0	19	207				
IGDCC4	57722	broad.mit.edu	37	15	65693167	65693167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:65693167G>A	ENST00000352385.2	-	5	1027	c.818C>T	c.(817-819)cCt>cTt	p.P273L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	273	Ig-like C2-type 3.					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						GGACACAAAAGGGGTGGGGTC	0.612											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(817-819)CCT>CTT		immunoglobulin superfamily, DCC subclass, member							128.0	105.0	112.0					15																	65693167		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65693167G>A		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.818C>T	15.37:g.65693167G>A	ENSP00000319623:p.Pro273Leu		OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.P273L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			5	1028	-			273			Ig-like C2-type 3.|Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.818C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306114	0.95629	.	.	ENSG00000103742	ENST00000352385	T	0.71461	-0.57	5.15	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89109	0.3495	10	0.87932	D	0	-9.6205	18.6484	0.91419	0.0:0.0:1.0:0.0	.	273	Q8TDY8	IGDC4_HUMAN	L	273	ENSP00000319623:P273L	ENSP00000319623:P273L	P	-	2	0	IGDCC4	63480220	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.750000	0.98875	2.409000	0.81822	0.561000	0.74099	CCT		0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	71	0	0	0	0	5	71				
CHD2	1106	broad.mit.edu	37	15	93547934	93547934	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93547934A>T	ENST00000394196.4	+	34	5434	c.4366A>T	c.(4366-4368)Att>Ttt	p.I1456F	CHD2_ENST00000557381.1_Missense_Mutation_p.I1456F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1456					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACCTGTCCCCATTGGAGAGGA	0.478																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(4366-4368)ATT>TTT		chromodomain helicase DNA binding protein 2							162.0	149.0	154.0					15																	93547934		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93547934A>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4366A>T	15.37:g.93547934A>T	ENSP00000377747:p.Ile1456Phe					CHD2_uc002bso.1_Missense_Mutation_p.I1456F	p.I1456F	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	4941	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1456					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4366A>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031989	0.93575	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.90563	-2.66;-2.69	5.34	5.34	0.76211	.	0.000000	0.34580	U	0.003847	D	0.93644	0.7970	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.995;0.997	D	0.94286	0.7524	10	0.72032	D	0.01	-14.0504	15.3129	0.74048	1.0:0.0:0.0:0.0	.	1456;1456	O14647;O14647-2	CHD2_HUMAN;.	F	1456	ENSP00000377747:I1456F;ENSP00000451366:I1456F	ENSP00000377747:I1456F	I	+	1	0	CHD2	91348938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.923000	0.92808	2.012000	0.59069	0.533000	0.62120	ATT		0.478	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		11	71	0	0	0	0	11	71				
RGMA	56963	broad.mit.edu	37	15	93595681	93595681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93595681C>A	ENST00000329082.7	-	3	458	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.G71C|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000556087.1_Missense_Mutation_p.G47C|RGMA_ENST00000542321.2_Missense_Mutation_p.G47C|RGMA_ENST00000425933.2_Missense_Mutation_p.G47C|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.G47C	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	63					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGTGGCTGCCCGACGTGGCG	0.672																																						uc002bss.1		NA																	0					0						c.(187-189)GGC>TGC		RGM domain family, member A precursor							10.0	11.0	11.0					15																	93595681		2045	4054	6099	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595681C>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.187G>T	15.37:g.93595681C>A	ENSP00000330005:p.Gly63Cys					RGMA_uc002bsq.1_Missense_Mutation_p.G47C|RGMA_uc010boi.1_5'UTR|RGMA_uc002bsr.1_5'UTR|RGMA_uc010urc.1_Missense_Mutation_p.G71C	p.G63C	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	459	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		63					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.187G>T	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404159	0.62288	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000557301;ENST00000555598	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.15	5.15	0.70609	Repulsive guidance molecule, N-terminal (1);	0.501507	0.19422	N	0.114669	D	0.97235	0.9096	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.64506	0.879;0.926	D	0.96795	0.9585	10	0.56958	D	0.05	-0.4056	11.7025	0.51579	0.0:0.9176:0.0:0.0824	.	71;63	G3V518;Q96B86	.;RGMA_HUMAN	C	47;47;63;47;71;47	ENSP00000442498:G47C;ENSP00000404442:G47C;ENSP00000330005:G63C;ENSP00000440025:G47C;ENSP00000452126:G71C;ENSP00000451709:G47C	ENSP00000330005:G63C	G	-	1	0	RGMA	91396685	0.925000	0.31364	0.981000	0.43875	0.808000	0.45660	2.418000	0.44662	2.409000	0.81822	0.462000	0.41574	GGC		0.672	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		3	15	1	0	0.00909568	0.00921901	3	15				
TNRC6A	27327	broad.mit.edu	37	16	24829935	24829935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:24829935C>T	ENST00000395799.3	+	21	5123	c.4994C>T	c.(4993-4995)aCc>aTc	p.T1665I	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.T1616I|TNRC6A_ENST00000432286.2_Missense_Mutation_p.T143I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1665					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCTTGAACACCACGCTGCCT	0.532																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(4993-4995)ACC>ATC		trinucleotide repeat containing 6A							181.0	119.0	140.0					16																	24829935		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24829935C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4994C>T	16.37:g.24829935C>T	ENSP00000379144:p.Thr1665Ile					TNRC6A_uc010bxs.2_Missense_Mutation_p.T1412I|TNRC6A_uc002dmn.2_Missense_Mutation_p.T1363I|TNRC6A_uc002dmo.2_Missense_Mutation_p.T1304I	p.T1665I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	21	5108	+			1665					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4994C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939252	0.92526	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.14144	2.53;2.53	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.11179	-1.0598	10	0.59425	D	0.04	-8.3727	18.8436	0.92194	0.0:1.0:0.0:0.0	.	1616;1665	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	I	1616;1665;143	ENSP00000326900:T1616I;ENSP00000379144:T1665I	ENSP00000326900:T1616I	T	+	2	0	TNRC6A	24737436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.444000	0.82710	0.561000	0.74099	ACC		0.532	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		3	31	0	0	0	0	3	31				
ATP2A1	487	broad.mit.edu	37	16	28906272	28906272	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:28906272T>C	ENST00000357084.3	+	12	1684	c.1417T>C	c.(1417-1419)Tcg>Ccg	p.S473P	ATP2A1_ENST00000536376.1_Missense_Mutation_p.S348P|ATP2A1_ENST00000395503.4_Missense_Mutation_p.S473P	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	473					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCTGCAACTCGGTGAGCCT	0.602																																						uc002dro.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1417-1419)TCG>CCG		ATPase, Ca++ transporting, fast twitch 1 isoform							49.0	49.0	49.0					16																	28906272		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28906272T>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1417T>C	16.37:g.28906272T>C	ENSP00000349595:p.Ser473Pro					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.S473P|ATP2A1_uc002drp.1_Missense_Mutation_p.S348P	p.S473P	NM_173201	NP_775293	O14983	AT2A1_HUMAN			12	1601	+			473			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1417T>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545160	0.45280	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82984	-1.67;-1.67;-1.67	4.97	4.97	0.65823	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.121832	0.56097	D	0.000027	T	0.79034	0.4378	L	0.54323	1.7	0.38047	D	0.935643	B;P;B	0.35575	0.263;0.51;0.192	B;B;B	0.36534	0.099;0.227;0.094	T	0.80973	-0.1143	10	0.49607	T	0.09	.	10.3542	0.43954	0.0:0.0:0.1648:0.8352	.	348;473;473	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	P	473;473;510;348	ENSP00000349595:S473P;ENSP00000378879:S473P;ENSP00000443101:S348P	ENSP00000349595:S473P	S	+	1	0	ATP2A1	28813773	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.089000	0.41672	1.871000	0.54225	0.477000	0.44152	TCG		0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		4	21	0	0	0	0	4	21				
DRC7	84229	broad.mit.edu	37	16	57762377	57762377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:57762377C>A	ENST00000360716.3	+	17	2493	c.2272C>A	c.(2272-2274)Ctc>Atc	p.L758I	CCDC135_ENST00000336825.8_Missense_Mutation_p.L693I|CCDC135_ENST00000394337.4_Missense_Mutation_p.L758I			Q8IY82	CC135_HUMAN		758					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGGCCCAGCTCCCGCCAGG	0.602																																						uc002emi.2		NA																	0				central_nervous_system(1)	1						c.(2272-2274)CTC>ATC		coiled-coil domain containing 135							53.0	61.0	59.0					16																	57762377		2198	4298	6496	SO:0001583	missense	84229					cytoplasm		g.chr16:57762377C>A																												ENST00000360716.3:c.2272C>A	16.37:g.57762377C>A	ENSP00000353942:p.Leu758Ile					CCDC135_uc002emj.2_Missense_Mutation_p.L758I|CCDC135_uc002emk.2_Missense_Mutation_p.L693I	p.L758I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			16	2361	+			758					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2272C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.55	1.970646	0.34754	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11495	2.95;2.77;2.95	5.15	3.19	0.36642	.	0.263656	0.27645	N	0.018443	T	0.09158	0.0226	L	0.46819	1.47	0.38903	D	0.957357	P;B	0.41080	0.737;0.384	B;B	0.42062	0.374;0.227	T	0.26849	-1.0091	10	0.23302	T	0.38	-28.6697	3.3044	0.06994	0.1868:0.541:0.0:0.2722	.	693;758	Q8IY82-2;Q8IY82	.;CC135_HUMAN	I	758;693;758	ENSP00000377869:L758I;ENSP00000338938:L693I;ENSP00000353942:L758I	ENSP00000338938:L693I	L	+	1	0	CCDC135	56319878	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	0.824000	0.27379	1.169000	0.42739	0.491000	0.48974	CTC		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			13	72	1	0	2.27e-07	2.46e-07	13	72				
SDR42E1	93517	broad.mit.edu	37	16	82033306	82033306	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:82033306G>T	ENST00000328945.5	-	3	719	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	198					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACTATCCTGGGAAGGTGTCTT	0.562																																						uc002fgu.2		NA																	0					0						c.(592-594)CCC>ACC		short chain dehydrogenase/reductase family 42E,							115.0	114.0	114.0					16																	82033306		1964	4158	6122	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033306G>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.592C>A	16.37:g.82033306G>T	ENSP00000332407:p.Pro198Thr						p.P198T	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	720	-			198					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.592C>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744187	0.89663	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.95137	-2.51;-3.62	5.76	5.76	0.90799	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.86651	2.83	0.80722	D	1	D	0.56287	0.975	D	0.64410	0.925	D	0.97732	1.0203	10	0.66056	D	0.02	-24.2952	18.9641	0.92689	0.0:0.0:1.0:0.0	.	198	Q8WUS8	D42E1_HUMAN	T	198;195	ENSP00000332407:P198T;ENSP00000434529:P195T	ENSP00000332407:P198T	P	-	1	0	SDR42E1	80590807	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	CCC		0.562	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		19	100	1	0	1.5e-11	1.69e-11	19	100				
P2RX1	5023	broad.mit.edu	37	17	3802281	3802281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:3802281G>C	ENST00000225538.3	-	9	1187	c.913C>G	c.(913-915)Cgt>Ggt	p.R305G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	305					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		AAGAGGTGACGGTAGTTGGTC	0.562																																						uc002fww.2		NA																	0				ovary(1)|skin(1)	2						c.(913-915)CGT>GGT		purinergic receptor P2X1							221.0	163.0	183.0					17																	3802281		2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3802281G>C	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.913C>G	17.37:g.3802281G>C	ENSP00000225538:p.Arg305Gly						p.R305G	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	9	1354	-			305			Extracellular (Potential).		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.913C>G	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407078	0.62399	.	.	ENSG00000108405	ENST00000225538	T	0.14022	2.54	4.44	4.44	0.53790	.	0.048947	0.85682	D	0.000000	T	0.40595	0.1123	M	0.91972	3.26	0.47737	D	0.999503	D	0.65815	0.995	D	0.63877	0.919	T	0.46289	-0.9202	10	0.87932	D	0	-6.7957	10.3774	0.44090	0.0:0.0:0.6948:0.3052	.	305	P51575	P2RX1_HUMAN	G	305	ENSP00000225538:R305G	ENSP00000225538:R305G	R	-	1	0	P2RX1	3749030	0.998000	0.40836	0.989000	0.46669	0.954000	0.61252	2.707000	0.47143	2.462000	0.83206	0.561000	0.74099	CGT		0.562	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		20	80	0	0	0	0	20	80				
GUCY2D	3000	broad.mit.edu	37	17	7907216	7907216	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:7907216G>A	ENST00000254854.4	+	3	918	c.768G>A	c.(766-768)caG>caA	p.Q256Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	256					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCGAGGAGCAGCGCTACCTCC	0.692																																						uc002gjt.2		NA																	0				skin(1)	1						c.(766-768)CAG>CAA		guanylate cyclase 2D, membrane (retina-specific)							63.0	58.0	60.0					17																	7907216		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907216G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.768G>A	17.37:g.7907216G>A							p.Q256Q	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			3	842	+		Prostate(122;0.157)	256			Extracellular (Potential).		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.768G>A	CCDS11127.1																																																																																				0.692	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			11	46	0	0	0	0	11	46				
DHRS7B	25979	broad.mit.edu	37	17	21094308	21094308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:21094308C>G	ENST00000395511.3	+	7	1140	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Missense_Mutation_p.Q259E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	274						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGAGGTGGCCCAGGATGTTCT	0.498																																						uc002gyo.2		NA																	0				pancreas(1)	1						c.(820-822)CAG>GAG		dehydrogenase/reductase (SDR family) member 7B							193.0	169.0	177.0					17																	21094308		2203	4300	6503	SO:0001583	missense	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094308C>G	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.820C>G	17.37:g.21094308C>G	ENSP00000378887:p.Gln274Glu						p.Q274E	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			7	847	+			274			Peroxisomal (Potential).		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	c.820C>G	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004615	0.07866	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	T	0.48522	0.81	5.8	2.66	0.31614	NAD(P)-binding domain (1);	0.752409	0.13665	N	0.371330	T	0.25938	0.0632	N	0.20401	0.57	0.80722	D	1	B	0.20887	0.049	B	0.19148	0.024	T	0.10291	-1.0636	10	0.02654	T	1	.	8.0856	0.30771	0.1208:0.699:0.1163:0.0639	.	274	Q6IAN0	DRS7B_HUMAN	E	274	ENSP00000378887:Q274E	ENSP00000320352:Q274E	Q	+	1	0	DHRS7B	21034900	0.003000	0.15002	0.675000	0.29917	0.294000	0.27393	1.223000	0.32527	0.784000	0.33661	0.655000	0.94253	CAG		0.498	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		17	90	0	0	0	0	17	90				
NF1	4763	broad.mit.edu	37	17	29683523	29683523	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:29683523C>T	ENST00000358273.4	+	52	8044	c.7661C>T	c.(7660-7662)cCt>cTt	p.P2554L	NF1_ENST00000356175.3_Missense_Mutation_p.P2533L|NF1_ENST00000444181.2_Missense_Mutation_p.P347L|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2554					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGGCTCCTAAAAGGCAA	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7660-7662)CCT>CTT		neurofibromin isoform 1							99.0	91.0	94.0					17																	29683523		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683523C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7661C>T	17.37:g.29683523C>T	ENSP00000351015:p.Pro2554Leu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.P2533L|NF1_uc010cso.2_Missense_Mutation_p.P742L|NF1_uc010wbt.1_Missense_Mutation_p.P32L|NF1_uc010wbu.1_RNA	p.P2554L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	52	7994	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2554					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7661C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701853	0.88924	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.55234	3.17;3.35;3.03;0.53	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.47716	1.5	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.664	D;D;B	0.87578	0.998;0.994;0.155	T	0.58853	-0.7563	10	0.24483	T	0.36	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	347;2533;2554	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	L	2554;2533;2199;347	ENSP00000351015:P2554L;ENSP00000348498:P2533L;ENSP00000389907:P2199L;ENSP00000396481:P347L	ENSP00000348498:P2533L	P	+	2	0	NF1	26707649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.115000	0.77110	2.832000	0.97577	0.655000	0.94253	CCT		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		9	49	0	0	0	0	9	49				
ACACA	31	broad.mit.edu	37	17	35631097	35631097	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:35631097T>A	ENST00000394406.2	-	9	1074	c.884A>T	c.(883-885)gAt>gTt	p.D295V	ACACA_ENST00000353139.5_Missense_Mutation_p.D332V|ACACA_ENST00000335166.5_Missense_Mutation_p.D217V|ACACA_ENST00000360679.3_Missense_Mutation_p.D237V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	295	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGCCCATCATCCACATCTTT	0.433																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(883-885)GAT>GTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						184.0	147.0	160.0					17																	35631097		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35631097T>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.884A>T	17.37:g.35631097T>A	ENSP00000377928:p.Asp295Val					ACACA_uc002hnk.2_Missense_Mutation_p.D217V|ACACA_uc002hnl.2_Missense_Mutation_p.D237V|ACACA_uc002hnn.2_Missense_Mutation_p.D295V|ACACA_uc002hno.2_Missense_Mutation_p.D332V|ACACA_uc010cuz.2_Missense_Mutation_p.D295V|ACACA_uc002hnq.2_Missense_Mutation_p.D217V	p.D295V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			9	1075	-		Breast(25;0.00157)|Ovarian(249;0.15)	295			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.884A>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541112	0.65085	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.96	5.96	0.96718	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.095949	0.64402	D	0.000001	D	0.97498	0.9181	M	0.64260	1.97	0.80722	D	1	P;B;B	0.39940	0.696;0.317;0.271	P;B;B	0.47299	0.543;0.438;0.244	D	0.98149	1.0440	10	0.87932	D	0	-21.4366	16.4447	0.83919	0.0:0.0:0.0:1.0	.	332;295;237	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	V	332;237;295;319;217;217	ENSP00000344789:D332V;ENSP00000353898:D237V;ENSP00000377928:D295V;ENSP00000335323:D217V	ENSP00000335323:D217V	D	-	2	0	ACACA	32705210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.300000	0.78841	2.284000	0.76573	0.528000	0.53228	GAT		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		15	58	0	0	0	0	15	58				
AOC2	314	broad.mit.edu	37	17	40997732	40997732	+	Silent	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:40997732A>T	ENST00000253799.3	+	1	1116	c.1089A>T	c.(1087-1089)gtA>gtT	p.V363V	AOC2_ENST00000452774.2_Silent_p.V363V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	363					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGTGTGTATCTATCTATG	0.532																																						uc002ibu.2		NA																	0				ovary(2)	2						c.(1087-1089)GTA>GTT		amine oxidase, copper containing 2 isoform b							145.0	139.0	141.0					17																	40997732		2203	4300	6503	SO:0001819	synonymous_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997732A>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1089A>T	17.37:g.40997732A>T						AOC2_uc002ibt.2_Silent_p.V363V	p.V363V	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1124	+		Breast(137;0.000143)	363					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	c.1089A>T	CCDS11443.1																																																																																				0.532	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		28	105	0	0	0	0	28	105				
TBX2	6909	broad.mit.edu	37	17	59477583	59477583	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:59477583T>A	ENST00000240328.3	+	1	327	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	16					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TTACCACCCGTTCCACGCGCC	0.796																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1		NA																	0					0						c.(46-48)TTC>ATC		T-box 2							7.0	7.0	7.0					17																	59477583		1490	3225	4715	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59477583T>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.46T>A	17.37:g.59477583T>A	ENSP00000240328:p.Phe16Ile					TBX2_uc002ize.2_Missense_Mutation_p.F6I|TBX2_uc002izg.2_5'UTR	p.F16I	NM_005994	NP_005985	Q13207	TBX2_HUMAN			1	327	+			16					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.46T>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	T	18.79	3.697993	0.68386	.	.	ENSG00000121068	ENST00000240328	D	0.89552	-2.53	3.33	3.33	0.38152	.	0.062166	0.64402	U	0.000004	D	0.92116	0.7501	M	0.68593	2.085	0.58432	D	0.999994	D	0.57899	0.981	D	0.67231	0.95	D	0.91294	0.5061	10	0.45353	T	0.12	.	11.076	0.48032	0.0:0.0:0.0:1.0	.	16	Q13207	TBX2_HUMAN	I	16	ENSP00000240328:F16I	ENSP00000240328:F16I	F	+	1	0	TBX2	56832365	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.452000	0.60054	1.387000	0.46486	0.312000	0.20444	TTC		0.796	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		4	18	0	0	0	0	4	18				
MRC2	9902	broad.mit.edu	37	17	60744755	60744755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:60744755G>C	ENST00000303375.5	+	6	1380	c.978G>C	c.(976-978)caG>caC	p.Q326H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	326	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACAGACCAGCCGGACAACC	0.667																																						uc002jad.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(976-978)CAG>CAC		mannose receptor, C type 2							39.0	44.0	42.0					17																	60744755		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60744755G>C	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.978G>C	17.37:g.60744755G>C	ENSP00000307513:p.Gln326His					MRC2_uc002jac.2_Missense_Mutation_p.Q326H	p.Q326H	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			6	1380	+			326			Extracellular (Potential).|C-type lectin 1.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.978G>C	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886892	0.72410	.	.	ENSG00000011028	ENST00000303375	T	0.25414	1.8	4.69	3.72	0.42706	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.062950	0.64402	D	0.000004	T	0.48223	0.1488	M	0.73753	2.245	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	T	0.49688	-0.8913	10	0.49607	T	0.09	-22.817	12.7736	0.57436	0.0797:0.0:0.9203:0.0	.	326	Q9UBG0	MRC2_HUMAN	H	326	ENSP00000307513:Q326H	ENSP00000307513:Q326H	Q	+	3	2	MRC2	58098487	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.647000	0.54403	1.188000	0.43014	0.462000	0.41574	CAG		0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	30	0	0	0	0	5	30				
MYOM1	8736	broad.mit.edu	37	18	3102583	3102583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:3102583G>A	ENST00000356443.4	-	23	3797	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	MYOM1_ENST00000400569.3_Missense_Mutation_p.S1155L|MYOM1_ENST00000261606.7_Missense_Mutation_p.S1059L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1155	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAGTTCAATGAAATGACTCC	0.428																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3463-3465)TCA>TTA		myomesin 1 isoform a							165.0	158.0	160.0					18																	3102583		1903	4122	6025	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102583G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3464C>T	18.37:g.3102583G>A	ENSP00000348821:p.Ser1155Leu					MYOM1_uc002klq.2_Missense_Mutation_p.S1059L	p.S1155L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			23	3798	-			1155			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3464C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025133	0.54683	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.70164	-0.46;-0.46;-0.46	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.72118	2.19	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73867	-0.3847	10	0.09843	T	0.71	.	19.52	0.95182	0.0:0.0:1.0:0.0	.	1059;1155	P52179-2;P52179	.;MYOM1_HUMAN	L	1155;1155;1059	ENSP00000348821:S1155L;ENSP00000383413:S1155L;ENSP00000261606:S1059L	ENSP00000261606:S1059L	S	-	2	0	MYOM1	3092583	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	7.799000	0.85936	2.611000	0.88343	0.557000	0.71058	TCA		0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		22	81	0	0	0	0	22	81				
SPIRE1	56907	broad.mit.edu	37	18	12454464	12454464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:12454464C>T	ENST00000409402.4	-	13	1924	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	SPIRE1_ENST00000383356.2_Missense_Mutation_p.V380M|SPIRE1_ENST00000410092.3_Missense_Mutation_p.V539M|SPIRE1_ENST00000453447.2_Missense_Mutation_p.V419M|SPIRE1_ENST00000309836.5_Missense_Mutation_p.V342M|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGGCATTCCACTGGGTAGCAG	0.453																																						uc002kre.2		NA																	0					0						c.(1657-1659)GTG>ATG		spire homolog 1 isoform a							137.0	127.0	130.0					18																	12454464		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12454464C>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1657G>A	18.37:g.12454464C>T	ENSP00000387266:p.Val553Met					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.V419M|SPIRE1_uc010wzx.1_Missense_Mutation_p.V342M|SPIRE1_uc010wzy.1_Missense_Mutation_p.V539M	p.V553M	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			13	1704	-			553						Missense_Mutation	SNP	ENST00000409402.4	37	c.1657G>A	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480074	0.84747	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.51574	0.73;1.26;1.28;0.7;0.74	5.96	5.96	0.96718	.	0.054563	0.64402	D	0.000001	T	0.71643	0.3364	M	0.77486	2.375	0.58432	D	0.999999	D;D;P	0.89917	0.994;1.0;0.899	D;D;P	0.97110	0.952;1.0;0.661	T	0.68864	-0.5296	10	0.41790	T	0.15	-5.4773	20.3928	0.98949	0.0:1.0:0.0:0.0	.	539;342;553	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	M	419;553;539;342;380	ENSP00000407050:V419M;ENSP00000387266:V553M;ENSP00000387226:V539M;ENSP00000309661:V342M;ENSP00000372847:V380M	ENSP00000309661:V342M	V	-	1	0	SPIRE1	12444464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.509000	0.67012	2.813000	0.96785	0.655000	0.94253	GTG		0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		4	103	0	0	0	0	4	103				
DSG2	1829	broad.mit.edu	37	18	29104786	29104786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29104786G>T	ENST00000261590.8	+	8	1158	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E317K(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATCAGGAAATGAAGGAGGTTA	0.378																																						uc002kwu.3		NA																	1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(949-951)GAA>TAA		desmoglein 2 preproprotein							90.0	87.0	88.0					18																	29104786		1868	4111	5979	SO:0001587	stop_gained	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29104786G>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.949G>T	18.37:g.29104786G>T	ENSP00000261590:p.Glu317*						p.E317*	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		8	1137	+			317			Extracellular (Potential).|Cadherin 3.		Q4KKU6	Nonsense_Mutation	SNP	ENST00000261590.8	37	c.949G>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491057	0.96339	.	.	ENSG00000046604	ENST00000261590	.	.	.	5.45	4.57	0.56435	.	0.407810	0.23734	N	0.045100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.364	0.83307	0.0:0.1319:0.8681:0.0	.	.	.	.	X	317	.	ENSP00000261590:E317X	E	+	1	0	DSG2	27358784	1.000000	0.71417	0.538000	0.28064	0.105000	0.19272	8.687000	0.91255	1.507000	0.48752	0.655000	0.94253	GAA		0.378	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		12	25	1	0	1.09e-07	1.19e-07	12	25				
MIDN	90007	broad.mit.edu	37	19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:1257108C>T	ENST00000591446.2	+	7	1653	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	CIRBP_ENST00000588030.1_5'Flank|MIDN_ENST00000300952.2_Missense_Mutation_p.P415L			Q504T8	MIDN_HUMAN	midnolin	415						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.P415L(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGGGTCCGTACCACTGG	0.706																																						uc002lrp.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1243-1245)CCG>CTG		midnolin							15.0	19.0	17.0					19																	1257108		2198	4283	6481	SO:0001583	missense	90007					nucleolus		g.chr19:1257108C>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1244C>T	19.37:g.1257108C>T	ENSP00000467679:p.Pro415Leu						p.P415L	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1759	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	415					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1244C>T	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.919878	0.73098	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	3.44	0.39384	.	0.065886	0.64402	U	0.000008	T	0.77267	0.4105	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81097	-0.1087	9	0.87932	D	0	-20.4334	13.6033	0.62033	0.0:1.0:0.0:0.0	.	415	Q504T8	MIDN_HUMAN	L	415	.	ENSP00000300952:P415L	P	+	2	0	MIDN	1208108	1.000000	0.71417	0.982000	0.44146	0.249000	0.25844	6.646000	0.74348	1.756000	0.51951	0.486000	0.48141	CCG		0.706	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			4	28	0	0	0	0	4	28				
KHSRP	8570	broad.mit.edu	37	19	6416646	6416646	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416646T>A	ENST00000398148.3	-	14	1435	c.1343A>T	c.(1342-1344)aAa>aTa	p.K448I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	448	Gly-rich.|KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTTTATGGCTTTCACATTCTC	0.602																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3		NA																	0				skin(1)	1						c.(1342-1344)AAA>ATA		KH-type splicing regulatory protein							43.0	47.0	46.0					19																	6416646		1991	4162	6153	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416646T>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1343A>T	19.37:g.6416646T>A	ENSP00000381216:p.Lys448Ile						p.K448I	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			14	1453	-			448			Gly-rich.|KH 4.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.1343A>T	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003702	0.74932	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.40225	1.04	5.31	5.31	0.75309	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74228	-0.3733	10	0.87932	D	0	.	14.2276	0.65871	0.0:0.0:0.0:1.0	.	448	Q92945	FUBP2_HUMAN	I	448	ENSP00000381216:K448I	ENSP00000201886:K448I	K	-	2	0	KHSRP	6367646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.994000	0.58287	0.533000	0.62120	AAA		0.602	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			4	27	0	0	0	0	4	27				
KHSRP	8570	broad.mit.edu	37	19	6416663	6416663	+	Splice_Site	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416663T>A	ENST00000398148.3	-	14	1420		c.e14-2		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTCGCCACCTGCAGAAACGC	0.602																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3		NA																	0				skin(1)	1						c.e14-1		KH-type splicing regulatory protein							38.0	41.0	40.0					19																	6416663		2019	4177	6196	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416663T>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1328-2A>T	19.37:g.6416663T>A							p.G443_splice	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			14	1438	-								O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.1328_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118677	0.56505	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7492	0.62897	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367663	1.000000	0.71417	0.975000	0.42487	0.685000	0.39939	5.927000	0.70080	1.882000	0.54519	0.533000	0.62120	.		0.602	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron	7	30	0	0	0	0	7	30				
AKAP8	10270	broad.mit.edu	37	19	15484099	15484099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:15484099C>T	ENST00000269701.2	-	5	484	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	142					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGTTGTGCTCCGGCAGGCAG	0.627																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2		NA																	0				ovary(1)|breast(1)	2						c.(424-426)GAG>AAG		A-kinase anchor protein 8							24.0	28.0	27.0					19																	15484099		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15484099C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.424G>A	19.37:g.15484099C>T	ENSP00000269701:p.Glu142Lys					AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	p.E142K	NM_005858	NP_005849	O43823	AKAP8_HUMAN			5	485	-			142						Missense_Mutation	SNP	ENST00000269701.2	37	c.424G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	c	13.25	2.181859	0.38511	.	.	ENSG00000105127	ENST00000269701	T	0.50001	0.76	4.82	4.82	0.62117	.	0.409447	0.20735	N	0.086650	T	0.43478	0.1249	L	0.59436	1.845	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.49652	-0.8917	10	0.46703	T	0.11	-19.9244	15.1765	0.72916	0.0:1.0:0.0:0.0	.	142	O43823	AKAP8_HUMAN	K	142	ENSP00000269701:E142K	ENSP00000269701:E142K	E	-	1	0	AKAP8	15345099	0.997000	0.39634	0.110000	0.21437	0.044000	0.14063	4.661000	0.61518	2.392000	0.81423	0.651000	0.88453	GAG		0.627	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		4	23	0	0	0	0	4	23				
ZNF98	148198	broad.mit.edu	37	19	22575526	22575526	+	Missense_Mutation	SNP	T	T	C	rs368090408		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:22575526T>C	ENST00000357774.5	-	4	632	c.511A>G	c.(511-513)Aga>Gga	p.R171G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATCTTATGTCTGTTTGAATTT	0.299																																						uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(511-513)AGA>GGA		zinc finger protein 98		T	GLY/ARG	0,4048		0,0,2024	30.0	30.0	30.0		511	0.2	0.0	19		30	1,8429		0,1,4214	no	missense	ZNF98	NM_001098626.1	125	0,1,6238	CC,CT,TT		0.0119,0.0,0.0080	benign	171/573	22575526	1,12477	2024	4215	6239	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575526T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.511A>G	19.37:g.22575526T>C	ENSP00000350418:p.Arg171Gly						p.R171G	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	633	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	171						Missense_Mutation	SNP	ENST00000357774.5	37	c.511A>G	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.587	0.109146	0.08780	0.0	1.19E-4	ENSG00000197360	ENST00000357774	T	0.26660	1.72	1.28	0.173	0.15036	.	.	.	.	.	T	0.24736	0.0600	L	0.43598	1.365	0.09310	N	1	P	0.39964	0.697	P	0.47430	0.547	T	0.20472	-1.0274	9	0.49607	T	0.09	.	2.6921	0.05124	0.0:0.3966:0.2925:0.3109	.	171	A6NK75	ZNF98_HUMAN	G	171	ENSP00000350418:R171G	ENSP00000350418:R171G	R	-	1	2	ZNF98	22367366	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	0.448000	0.21726	0.566000	0.29273	0.254000	0.18369	AGA		0.299	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	17	0	0	0	0	4	17				
NLRP9	338321	broad.mit.edu	37	19	56235505	56235505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56235505G>A	ENST00000332836.2	-	4	2027	c.2000C>T	c.(1999-2001)aCt>aTt	p.T667I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	667						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTACACAGAAGTAAATCTGCA	0.423																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(1999-2001)ACT>ATT		NLR family, pyrin domain containing 9							42.0	40.0	41.0					19																	56235505		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56235505G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2000C>T	19.37:g.56235505G>A	ENSP00000331857:p.Thr667Ile						p.T667I	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	4	2028	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	667					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2000C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	7.650	0.682757	0.14907	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.15487	2.42	2.66	-0.878	0.10617	.	.	.	.	.	T	0.11324	0.0276	L	0.36672	1.1	0.09310	N	1	P	0.36789	0.57	B	0.36378	0.223	T	0.21552	-1.0242	9	0.45353	T	0.12	.	3.9772	0.09479	0.1766:0.0:0.4229:0.4005	.	667	Q7RTR0	NALP9_HUMAN	I	667	ENSP00000331857:T667I	ENSP00000331857:T667I	T	-	2	0	NLRP9	60927317	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.599000	0.24089	-0.220000	0.09988	-0.142000	0.14014	ACT		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		4	25	0	0	0	0	4	25				
NLRP9	338321	broad.mit.edu	37	19	56244753	56244753	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56244753C>T	ENST00000332836.2	-	2	471	c.444G>A	c.(442-444)gtG>gtA	p.V148V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	148	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCCAGGACCACAGTGTGTC	0.433																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(442-444)GTG>GTA		NLR family, pyrin domain containing 9							88.0	85.0	86.0					19																	56244753		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244753C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.444G>A	19.37:g.56244753C>T							p.V148V	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	472	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	148			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.444G>A	CCDS12934.1																																																																																				0.433	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		7	51	0	0	0	0	7	51				
USP29	57663	broad.mit.edu	37	19	57642147	57642147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:57642147G>C	ENST00000254181.4	+	4	2558	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	USP29_ENST00000598197.1_Missense_Mutation_p.E702Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	702	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTCGTAGAGTTCAATTT	0.443																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2104-2106)GAG>CAG		ubiquitin specific peptidase 29							77.0	73.0	75.0					19																	57642147		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642147G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2104G>C	19.37:g.57642147G>C	ENSP00000254181:p.Glu702Gln						p.E702Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2460	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	702						Missense_Mutation	SNP	ENST00000254181.4	37	c.2104G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599462	0.28534	.	.	ENSG00000131864	ENST00000254181	T	0.51071	0.72	2.33	-0.701	0.11269	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.50154	0.1599	L	0.43152	1.355	0.09310	N	1	D	0.60575	0.988	P	0.61477	0.889	T	0.38802	-0.9644	9	0.62326	D	0.03	-4.3768	4.6675	0.12673	0.5776:0.0:0.4224:0.0	.	702	Q9HBJ7	UBP29_HUMAN	Q	702	ENSP00000254181:E702Q	ENSP00000254181:E702Q	E	+	1	0	USP29	62333959	0.088000	0.21588	0.002000	0.10522	0.011000	0.07611	0.976000	0.29462	-0.120000	0.11809	0.467000	0.42956	GAG		0.443	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			15	40	0	0	0	0	15	40				
CRIM1	51232	broad.mit.edu	37	2	36691747	36691747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:36691747C>T	ENST00000280527.2	+	5	1307	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	314					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATAGTCTCTCGTGGCGATGG	0.498																																						uc002rpd.2		NA																	0				ovary(2)|skin(1)	3						c.(940-942)CGT>TGT		cysteine-rich motor neuron 1 precursor							296.0	270.0	279.0					2																	36691747		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691747C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.940C>T	2.37:g.36691747C>T	ENSP00000280527:p.Arg314Cys						p.R314C	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			5	979	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	314			Extracellular (Potential).|Cell attachment site (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.940C>T	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139965	0.94560	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.05081	3.5	5.94	5.94	0.96194	.	0.058704	0.64402	D	0.000002	T	0.20088	0.0483	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.00034	-1.2266	10	0.48119	T	0.1	-17.2155	19.354	0.94404	0.0:1.0:0.0:0.0	.	314	Q9NZV1	CRIM1_HUMAN	C	314;206	ENSP00000280527:R314C	ENSP00000280527:R314C	R	+	1	0	CRIM1	36545251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.013000	0.70776	2.820000	0.97059	0.650000	0.86243	CGT		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		30	109	0	0	0	0	30	109				
LRRTM1	347730	broad.mit.edu	37	2	80530211	80530211	+	Missense_Mutation	SNP	A	A	T	rs534469345		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:80530211A>T	ENST00000295057.3	-	2	1390	c.734T>A	c.(733-735)gTg>gAg	p.V245E	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V245E|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	245					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CACAATGGCCACCTTGTTCCT	0.587										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(733-735)GTG>GAG		leucine rich repeat transmembrane neuronal 1							92.0	88.0	89.0					2																	80530211		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530211A>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.734T>A	2.37:g.80530211A>T	ENSP00000295057:p.Val245Glu	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V245E	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1004	-			245			LRR 7.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.734T>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508235	0.44660	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.80214	-1.35;-1.35	5.26	5.26	0.73747	.	0.075591	0.52532	U	0.000065	T	0.73783	0.3631	L	0.40543	1.245	0.54753	D	0.999986	P	0.40144	0.704	B	0.38428	0.273	T	0.72991	-0.4123	9	.	.	.	.	15.1528	0.72713	1.0:0.0:0.0:0.0	.	245	Q86UE6	LRRT1_HUMAN	E	245	ENSP00000295057:V245E;ENSP00000386646:V245E	.	V	-	2	0	LRRTM1	80383722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.075000	0.76798	1.956000	0.56807	0.533000	0.62120	GTG		0.587	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		18	58	0	0	0	0	18	58				
CNGA3	1261	broad.mit.edu	37	2	99013277	99013277	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:99013277G>A	ENST00000272602.2	+	7	1683	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	CNGA3_ENST00000436404.2_Silent_p.G530G|CNGA3_ENST00000409937.1_Silent_p.G552G|CNGA3_ENST00000393504.1_Silent_p.G548G			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2). {ECO:0000269|PubMed:14757870}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTACTTCGGGGAGATCAGCA	0.572																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1642-1644)GGG>GGA		cyclic nucleotide gated channel alpha 3 isoform							139.0	135.0	136.0					2																	99013277		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013277G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1644G>A	2.37:g.99013277G>A						CNGA3_uc002syu.2_Silent_p.G530G|CNGA3_uc010fij.2_Silent_p.G552G	p.G548G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2061	+			548		G -> R (in ACHM2).	cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1644G>A	CCDS2034.1																																																																																				0.572	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		28	87	0	0	0	0	28	87				
SCN1A	6323	broad.mit.edu	37	2	166856255	166856255	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:166856255T>C	ENST00000303395.4	-	22	4315	c.4316A>G	c.(4315-4317)tAt>tGt	p.Y1439C	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Y1411C|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.Y1428C|SCN1A_ENST00000423058.2_Missense_Mutation_p.Y1439C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1439					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACTGCTGCATACATTATATC	0.303																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4282-4284)TAT>TGT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						179.0	173.0	175.0					2																	166856255		2203	4292	6495	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166856255T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4316A>G	2.37:g.166856255T>C	ENSP00000303540:p.Tyr1439Cys					SCN1A_uc002udo.3_Missense_Mutation_p.Y1308C|SCN1A_uc010fpk.2_Missense_Mutation_p.Y1280C	p.Y1428C	NM_006920	NP_008851	P35498	SCN1A_HUMAN			22	4301	-			1439			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4283A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344706	0.61073	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99296	0.9754	H	0.99806	4.795	0.46927	D	0.999254	D;D;D	0.89917	0.999;0.992;1.0	D;P;D	0.91635	0.976;0.905;0.999	D	0.98252	1.0494	10	0.72032	D	0.01	.	15.5581	0.76216	0.0:0.0:0.0:1.0	.	1428;1411;1439	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	1439;1439;1428;1411	ENSP00000407030:Y1439C;ENSP00000303540:Y1439C;ENSP00000364554:Y1428C;ENSP00000386312:Y1411C	ENSP00000303540:Y1439C	Y	-	2	0	SCN1A	166564501	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.215000	0.72206	2.135000	0.66039	0.383000	0.25322	TAT		0.303	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		19	58	0	0	0	0	19	58				
MAP2	4133	broad.mit.edu	37	2	210559592	210559592	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:210559592A>C	ENST00000360351.4	+	7	3204	c.2698A>C	c.(2698-2700)Act>Cct	p.T900P	MAP2_ENST00000447185.1_Missense_Mutation_p.T896P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	900					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTACGAAGGCACTGATGATAA	0.453																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2698-2700)ACT>CCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						72.0	70.0	70.0					2																	210559592		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559592A>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2698A>C	2.37:g.210559592A>C	ENSP00000353508:p.Thr900Pro					MAP2_uc002vdc.1_Missense_Mutation_p.T900P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T896P	p.T900P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2946	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	900					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2698A>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739387	0.30774	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.24538	1.85;1.85	5.9	-2.95	0.05564	MAP2/Tau projection (1);	0.297725	0.28760	N	0.014237	T	0.11110	0.0271	N	0.21448	0.665	0.32902	D	0.513266	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.03503	-1.1030	10	0.51188	T	0.08	-2.0992	1.3921	0.02253	0.4424:0.2236:0.2126:0.1214	.	896;900	P11137-3;P11137	.;MAP2_HUMAN	P	900;896	ENSP00000353508:T900P;ENSP00000392164:T896P	ENSP00000353508:T900P	T	+	1	0	MAP2	210267837	0.343000	0.24818	0.994000	0.49952	0.992000	0.81027	0.435000	0.21510	-0.089000	0.12484	0.528000	0.53228	ACT		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	53	0	0	0	0	11	53				
CPS1	1373	broad.mit.edu	37	2	211464248	211464248	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:211464248A>T	ENST00000233072.5	+	14	1708	c.1512A>T	c.(1510-1512)ttA>ttT	p.L504F	CPS1_ENST00000430249.2_Missense_Mutation_p.L510F|CPS1_ENST00000451903.2_Missense_Mutation_p.L53F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	504					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGATGGGTTAATTCTGGGCA	0.453																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1510-1512)TTA>TTT		carbamoyl-phosphate synthetase 1 isoform b							128.0	128.0	128.0					2																	211464248		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464248A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1512A>T	2.37:g.211464248A>T	ENSP00000233072:p.Leu504Phe					CPS1_uc010fur.2_Missense_Mutation_p.L510F|CPS1_uc010fus.2_Missense_Mutation_p.L53F	p.L504F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1644	+			504					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1512A>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196281	0.58126	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.95690	-3.78;-3.78;-3.78	5.17	-3.98	0.04082	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.060999	0.56097	D	0.000025	D	0.93976	0.8071	M	0.75264	2.295	0.34348	D	0.689573	P;P	0.52692	0.955;0.955	P;P	0.50136	0.632;0.632	D	0.91496	0.5215	10	0.87932	D	0	-20.8389	6.4812	0.22063	0.4178:0.3245:0.2577:0.0	.	514;504	Q59HF8;P31327	.;CPSM_HUMAN	F	510;512;504;504;53	ENSP00000402608:L510F;ENSP00000233072:L504F;ENSP00000406136:L53F	ENSP00000233072:L504F	L	+	3	2	CPS1	211172493	0.746000	0.28272	0.292000	0.24919	0.851000	0.48451	-0.025000	0.12413	-0.561000	0.06094	0.374000	0.22700	TTA		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			18	54	0	0	0	0	18	54				
ALPP	250	broad.mit.edu	37	2	233243766	233243766	+	Silent	SNP	C	C	T	rs201263533		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:233243766C>T	ENST00000392027.2	+	2	431	c.162C>T	c.(160-162)gcC>gcT	p.A54A	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	54					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACAGACAGCCGCCAAGAACC	0.667																																						uc002vsq.2		NA																	0				ovary(1)	1						c.(160-162)GCC>GCT		placental alkaline phosphatase preproprotein							66.0	77.0	73.0					2																	233243766		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243766C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.162C>T	2.37:g.233243766C>T						ALPP_uc002vsr.2_5'Flank	p.A54A	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	327	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	54					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.162C>T	CCDS2490.1																																																																																				0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		22	85	0	0	0	0	22	85				
AGAP1	116987	broad.mit.edu	37	2	237032610	237032611	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032610_237032611GG>TA	ENST00000304032.8	+	18	2998_2999	c.2418_2419GG>TA	c.(2416-2421)ctGGcc>ctTAcc	p.A807T	AGAP1_ENST00000336665.5_Missense_Mutation_p.A754T|AGAP1_ENST00000428334.2_Missense_Mutation_p.A646T|AGAP1_ENST00000409538.1_Missense_Mutation_p.A1019T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	807					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACACAGCTCTGGCCTACGCCCG	0.644																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(2416-2421)CTGGCC>CTTACC		centaurin, gamma 2 isoform 1																																				SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:237032610_237032611GG>TA	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	Exception_encountered	2.37:g.237032610_237032611delinsTA	ENSP00000307634:p.Ala807Thr					AGAP1_uc002vvt.2_Missense_Mutation_p.A754T	p.A807T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			18	3013_3014	+			807			ANK 2.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	DNP	ENST00000304032.8	37	c.2418_2419GG>TA	CCDS33408.1																																																																																				0.644	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		13	40	0	0	0	0	13	40				
OR6B3	150681	broad.mit.edu	37	2	240984616	240984616	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:240984616G>A	ENST00000319423.4	-	1	873	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTATTCCTCAGGCAGTATATC	0.493																																						uc010zoe.1		NA																	0					0						c.(874-876)CTG>TTG		olfactory receptor, family 6, subfamily B,							149.0	153.0	152.0					2																	240984616		1868	4107	5975	SO:0001819	synonymous_variant	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240984616G>A		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.874C>T	2.37:g.240984616G>A						PRR21_uc010zod.1_5'Flank	p.L292L	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	874	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	292			Helical; Name=7; (Potential).		Q6IFH3	Silent	SNP	ENST00000319423.4	37	c.874C>T	CCDS42837.1																																																																																				0.493	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			25	121	0	0	0	0	25	121				
RBCK1	10616	broad.mit.edu	37	20	402811	402811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:402811G>T	ENST00000356286.5	+	8	1663	c.958G>T	c.(958-960)Gag>Tag	p.E320*	RBCK1_ENST00000353660.3_Nonsense_Mutation_p.E278*|RBCK1_ENST00000382181.2_Nonsense_Mutation_p.E150*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	320					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGGAGGCGGAGGTCTCCTG	0.612																																						uc002wdp.3		NA																	0					0						c.(958-960)GAG>TAG		RanBP-type and C3HC4-type zinc finger containing							129.0	116.0	120.0					20																	402811		2203	4300	6503	SO:0001587	stop_gained	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:402811G>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.958G>T	20.37:g.402811G>T	ENSP00000348632:p.Glu320*					RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Nonsense_Mutation_p.E278*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.E150*	p.E320*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			8	1651	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	320			RING-type.		O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	37	c.958G>T	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	45|45	11.888302|11.888302	0.99614|0.99614	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181|ENST00000400244	.|.	.|.	.|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63022	.|0.2476	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58132	.|-0.7690	.|5	0.13108|0.29301	T|T	0.6|0.29	-10.6503|-10.6503	13.806|13.806	0.63233|0.63233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	320;278;150|266	.|.	ENSP00000254960:E278X|ENSP00000383103:G266V	E|G	+|+	1|2	0|0	RBCK1|RBCK1	350811|350811	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.976000|0.976000	0.68499|0.68499	5.328000|5.328000	0.65887|0.65887	2.640000|2.640000	0.89533|0.89533	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		20	72	1	0	3.52e-12	3.98e-12	20	72				
PLCG1	5335	broad.mit.edu	37	20	39793623	39793623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:39793623G>A	ENST00000373271.1	+	13	1673	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	PLCG1_ENST00000244007.3_Missense_Mutation_p.R423K|PLCG1_ENST00000373272.2_Missense_Mutation_p.R423K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	423	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCCCAGCAGAGAAACATGGCC	0.567																																						uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(1267-1269)AGA>AAA		phospholipase C, gamma 1 isoform b							88.0	74.0	79.0					20																	39793623		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39793623G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1268G>A	20.37:g.39793623G>A	ENSP00000362368:p.Arg423Lys					PLCG1_uc002xjo.1_Missense_Mutation_p.R423K|PLCG1_uc010zwe.1_Missense_Mutation_p.R49K|PLCG1_uc010ggf.2_5'Flank	p.R423K	NM_182811	NP_877963	P19174	PLCG1_HUMAN			13	1389	+		Myeloproliferative disorder(115;0.00878)	423			PI-PLC X-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.1268G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392658	0.96009	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.61859	0.07;0.07;0.07	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	N	0.21583	0.68	0.80722	D	1	D;D;D	0.67145	0.995;0.979;0.996	D;P;D	0.68353	0.929;0.906;0.957	T	0.64850	-0.6310	10	0.41790	T	0.15	.	18.2126	0.89876	0.0:0.0:1.0:0.0	.	423;423;423	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	K	423	ENSP00000244007:R423K;ENSP00000362368:R423K;ENSP00000362369:R423K	ENSP00000244007:R423K	R	+	2	0	PLCG1	39227037	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.539000	0.85634	0.655000	0.94253	AGA		0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		8	33	0	0	0	0	8	33				
CHRNA4	1137	broad.mit.edu	37	20	61978195	61978195	+	Silent	SNP	G	G	A	rs201347598		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:61978195G>A	ENST00000370263.4	-	6	2000	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	593					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCATGGCCACGTACTTCCAGT	0.682																																						uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1777-1779)TAC>TAT		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						129.0	86.0	100.0					20																	61978195		2202	4300	6502	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978195G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1779C>T	20.37:g.61978195G>A						CHRNA4_uc002yet.1_Silent_p.Y417Y|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.Y522Y|CHRNA4_uc002yev.1_Silent_p.Y417Y|CHRNA4_uc010gkf.1_Silent_p.Y417Y	p.Y593Y	NM_000744	NP_000735	P43681	ACHA4_HUMAN			6	1957	-	all_cancers(38;1.71e-10)		593			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1779C>T	CCDS13517.1																																																																																				0.682	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			3	44	0	0	0	0	3	44				
SCAF4	57466	broad.mit.edu	37	21	33063182	33063182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr21:33063182C>T	ENST00000286835.7	-	15	2195	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	SCAF4_ENST00000399804.1_Missense_Mutation_p.D605N|SCAF4_ENST00000434667.3_Missense_Mutation_p.D590N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	605				WDK -> CDN (in Ref. 1; AAD09327). {ECO:0000305}.		nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGACTTTGTCCCATGGAATA	0.393																																						uc002ypd.2		NA																	0					0						c.(1813-1815)GAC>AAC		splicing factor, arginine/serine-rich 15 isoform							200.0	193.0	196.0					21																	33063182		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33063182C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1813G>A	21.37:g.33063182C>T	ENSP00000286835:p.Asp605Asn					SFRS15_uc002ype.2_Missense_Mutation_p.D605N|SFRS15_uc010glu.2_Missense_Mutation_p.D590N|SFRS15_uc002ypf.1_Missense_Mutation_p.D279N	p.D605N	NM_020706	NP_065757	O95104	SFR15_HUMAN			15	2239	-			605	WDK -> CDN (in Ref. 1; AAD09327).				C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1813G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665738	0.47677	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44482	0.92;0.93;0.93	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.24661	0.0598	N	0.11255	0.115	0.48452	D	0.999653	B;B;B;B	0.20052	0.024;0.024;0.041;0.024	B;B;B;B	0.16722	0.007;0.005;0.016;0.007	T	0.06807	-1.0806	10	0.42905	T	0.14	-15.399	10.5557	0.45117	0.0:0.8574:0.0:0.1426	.	590;605;605;605	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	N	590;605;605	ENSP00000402377:D590N;ENSP00000286835:D605N;ENSP00000382703:D605N	ENSP00000286835:D605N	D	-	1	0	SCAF4	31985053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.032000	0.41127	2.779000	0.95612	0.655000	0.94253	GAC		0.393	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		21	76	0	0	0	0	21	76				
SEC14L4	284904	broad.mit.edu	37	22	30887573	30887573	+	Silent	SNP	G	G	A	rs141872549		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:30887573G>A	ENST00000255858.7	-	11	1151	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Silent_p.L356L|SEC14L4_ENST00000392772.2_Silent_p.L302L|SEC14L4_ENST00000540456.1_Silent_p.L341L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	356	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCCAGCCTGGAGGCAGGTGA	0.617																																						uc003aid.2		NA																	0				skin(1)	1						c.(1066-1068)CTC>CTT		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)	G	,	1,4405	2.1+/-5.4	0,1,2202	71.0	69.0	70.0		1068,1068	1.2	0.0	22	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEC14L4	NM_001161368.1,NM_174977.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	356/361,356/407	30887573	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30887573G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1068C>T	22.37:g.30887573G>A						SEC14L4_uc011akz.1_Silent_p.L356L|SEC14L4_uc003aie.2_Silent_p.L341L|SEC14L4_uc003aif.2_Silent_p.L302L	p.L356L	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			11	1168	-			356			GOLD.		A5D6W7|A6NCV4	Silent	SNP	ENST00000255858.7	37	c.1068C>T	CCDS13878.1																																																																																				0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		8	76	0	0	0	0	8	76				
SREBF2	6721	broad.mit.edu	37	22	42266924	42266924	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42266924A>T	ENST00000361204.4	+	4	918	c.752A>T	c.(751-753)gAt>gTt	p.D251V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	251	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCAAGACAGATTCCCTTGTT	0.502																																						uc003bbi.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(751-753)GAT>GTT		sterol regulatory element-binding transcription							182.0	163.0	170.0					22																	42266924		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266924A>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.752A>T	22.37:g.42266924A>T	ENSP00000354476:p.Asp251Val					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.D251V	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			4	921	+			251			Interaction with LMNA (By similarity).|Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.752A>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967652	0.92855	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.56444	0.46	5.49	5.49	0.81192	.	0.045306	0.85682	D	0.000000	T	0.60418	0.2267	L	0.52905	1.665	0.80722	D	1	D	0.63880	0.993	P	0.52109	0.69	T	0.65224	-0.6220	10	0.87932	D	0	-14.7751	15.5792	0.76418	1.0:0.0:0.0:0.0	.	251	Q12772	SRBP2_HUMAN	V	251	ENSP00000354476:D251V	ENSP00000354476:D251V	D	+	2	0	SREBF2	40596870	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.324000	0.96373	2.083000	0.62718	0.374000	0.22700	GAT		0.502	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		23	95	0	0	0	0	23	95				
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322147G>C	ENST00000291232.3	-	2	369	c.325C>G	c.(325-327)Cgc>Ggc	p.R109G	MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731																																						uc003bbl.2		NA																	0					0						c.(325-327)CGC>GGC		BAFF receptor							11.0	14.0	13.0					22																	42322147		1942	3984	5926	SO:0001583	missense	115650					integral to membrane	receptor activity	g.chr22:42322147G>C	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.325C>G	22.37:g.42322147G>C	ENSP00000291232:p.Arg109Gly					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110G	p.R109G	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			2	369	-			109			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000291232.3	37	c.325C>G	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	5.934	0.356341	0.11239	.	.	ENSG00000159958	ENST00000291232	T	0.34072	1.38	1.81	-0.675	0.11364	.	1.686560	0.04202	N	0.330228	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18335	-1.0340	10	0.14252	T	0.57	.	7.4309	0.27126	0.0:0.5869:0.4131:0.0	.	109;109	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	G	109	ENSP00000291232:R109G	ENSP00000291232:R109G	R	-	1	0	TNFRSF13C	40652093	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.293000	0.02770	-0.088000	0.12506	0.313000	0.20887	CGC		0.731	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			5	23	0	0	0	0	5	23				
TNFRSF13C	115650	broad.mit.edu	37	22	42322238	42322238	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322238G>C	ENST00000291232.3	-	2	278	c.234C>G	c.(232-234)ctC>ctG	p.L78L	MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	78					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						GGGCGCCAAAGAGCAGCCCGG	0.791																																						uc003bbl.2		NA																	0					0						c.(232-234)CTC>CTG		BAFF receptor							4.0	5.0	5.0					22																	42322238		1809	3629	5438	SO:0001819	synonymous_variant	115650					integral to membrane	receptor activity	g.chr22:42322238G>C	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.234C>G	22.37:g.42322238G>C						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.L79L	p.L78L	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			2	278	-			78			Extracellular (Potential).			Silent	SNP	ENST00000291232.3	37	c.234C>G	CCDS14024.1																																																																																				0.791	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			3	6	0	0	0	0	3	6				
EFCAB6	64800	broad.mit.edu	37	22	44063042	44063042	+	Missense_Mutation	SNP	C	C	T	rs148107489	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:44063042C>T	ENST00000262726.7	-	17	2178	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R490Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	642	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCAAGAAATCGTTTTTTGAA	0.403																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1924-1926)CGA>CAA		CAP-binding protein complex interacting protein		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	206.0	199.0	201.0		1925,1469	-4.8	0.0	22	dbSNP_134	201	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	43,43	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign,benign	642/1502,490/1350	44063042	10,12996	2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44063042C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1925G>A	22.37:g.44063042C>T	ENSP00000262726:p.Arg642Gln					EFCAB6_uc003bdz.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	p.R642Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			17	2140	-		Ovarian(80;0.0247)|all_neural(38;0.025)	642			EF-hand 7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1925G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668832	0.14776	2.27E-4	0.001047	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.41758	0.99;0.99	4.49	-4.75	0.03239	EF-hand-like domain (1);	2.527490	0.01706	N	0.027456	T	0.24353	0.0590	L	0.34521	1.04	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.07177	-1.0786	10	0.11485	T	0.65	0.319	1.5656	0.02604	0.1493:0.2272:0.1489:0.4747	.	642	Q5THR3	EFCB6_HUMAN	Q	490;642	ENSP00000379533:R490Q;ENSP00000262726:R642Q	ENSP00000262726:R642Q	R	-	2	0	EFCAB6	42394375	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-1.648000	0.01995	-0.567000	0.06046	0.650000	0.86243	CGA		0.403	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	110	0	0	0	0	13	110				
TGFBR2	7048	broad.mit.edu	37	3	30715717	30715717	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:30715717T>C	ENST00000295754.5	+	5	1757	c.1375T>C	c.(1375-1377)Tct>Cct	p.S459P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S484P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGAAATGACATCTCGCTGTAA	0.463																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(1375-1377)TCT>CCT		transforming growth factor, beta receptor II							152.0	129.0	137.0					3																	30715717		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715717T>C		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1375T>C	3.37:g.30715717T>C	ENSP00000295754:p.Ser459Pro					TGFBR2_uc003cen.2_Missense_Mutation_p.S484P	p.S459P	NM_003242	NP_003233	P37173	TGFR2_HUMAN			5	1757	+			459			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1375T>C	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514828	0.85389	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93953	-3.32;-3.32	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97232	0.9095	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.97912	1.0309	10	0.66056	D	0.02	.	16.0755	0.80965	0.0:0.0:0.0:1.0	.	459;484	P37173;D2JYI1	TGFR2_HUMAN;.	P	459;484;289	ENSP00000295754:S459P;ENSP00000351905:S484P	ENSP00000295754:S459P	S	+	1	0	TGFBR2	30690721	1.000000	0.71417	0.940000	0.37924	0.704000	0.40688	8.040000	0.89188	2.182000	0.69389	0.528000	0.53228	TCT		0.463	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			28	48	0	0	0	0	28	48				
STAB1	23166	broad.mit.edu	37	3	52552020	52552020	+	Splice_Site	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:52552020G>C	ENST00000321725.6	+	45	4837		c.e45+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGTCGGCCTGGTAATGATGCC	0.612																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.e45+1		stabilin 1 precursor							53.0	54.0	54.0					3																	52552020		2203	4300	6503	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52552020G>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4761+1G>C	3.37:g.52552020G>C						STAB1_uc003dek.1_5'Flank	p.L1587_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	45	4835	+								A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.4761_splice	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002887	0.54254	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3939	0.74774	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52527060	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	6.211000	0.72182	2.380000	0.81148	0.655000	0.94253	.		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Intron	11	49	0	0	0	0	11	49				
SEMA5B	54437	broad.mit.edu	37	3	122629868	122629868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:122629868G>A	ENST00000357599.3	-	22	3502	c.3116C>T	c.(3115-3117)gCc>gTc	p.A1039V	SEMA5B_ENST00000195173.4_Missense_Mutation_p.P1081S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A1093V	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1039					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGCCCGTGGCCACCAAGTG	0.597																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(3115-3117)GCC>GTC		semaphorin 5B isoform 1							73.0	62.0	66.0					3																	122629868		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122629868G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3116C>T	3.37:g.122629868G>A	ENSP00000350215:p.Ala1039Val					SEMA5B_uc011bju.1_Missense_Mutation_p.A945V|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A1039V|SEMA5B_uc003efy.1_Missense_Mutation_p.A17V	p.A1039V	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	22	3420	-			1039			Helical; Signal-anchor for type III membrane protein; (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.3116C>T	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.874703|2.874703	0.51695|0.51695	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541;ENST00000195173	T;T;T|T	0.32515|0.34275	1.45;1.51;1.54|1.37	4.87|4.87	2.97|2.97	0.34412|0.34412	.|.	0.175856|.	0.49305|.	N|.	0.000157|.	T|T	0.34395|0.34395	0.0896|0.0896	L|L	0.38175|0.38175	1.15|1.15	0.26180|0.26180	N|N	0.979746|0.979746	B;B|.	0.17852|.	0.024;0.01|.	B;B|.	0.29598|.	0.104;0.021|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|7	0.16896|0.87932	T|D	0.51|0	.|.	8.5932|8.5932	0.33699|0.33699	0.196:0.0:0.804:0.0|0.196:0.0:0.804:0.0	.|.	945;1039|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	V|S	1039;945;1093;1039|85;1081	ENSP00000350215:A1039V;ENSP00000389588:A1093V;ENSP00000377208:A1039V|ENSP00000195173:P1081S	ENSP00000350215:A1039V|ENSP00000195173:P1081S	A|P	-|-	2|1	0|0	SEMA5B|SEMA5B	124112558|124112558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	4.969000|4.969000	0.63735|0.63735	0.578000|0.578000	0.29487|0.29487	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.597	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		5	21	0	0	0	0	5	21				
A4GNT	51146	broad.mit.edu	37	3	137850095	137850095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:137850095G>A	ENST00000236709.3	-	2	205	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTCCTTCCGCATGTCCTCT	0.473																																						uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(4-6)CGG>TGG		alpha-1,4-N-acetylglucosaminyltransferase							61.0	59.0	60.0					3																	137850095		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137850095G>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.4C>T	3.37:g.137850095G>A	ENSP00000236709:p.Arg2Trp						p.R2W	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	206	-			2			Cytoplasmic (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.4C>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734974	0.48939	.	.	ENSG00000118017	ENST00000236709	D	0.84370	-1.84	5.32	5.32	0.75619	.	0.608614	0.13714	N	0.367883	T	0.69513	0.3119	N	0.08118	0	0.26382	N	0.976728	D	0.56968	0.978	B	0.40410	0.328	T	0.63743	-0.6568	10	0.56958	D	0.05	1.6852	7.9309	0.29901	0.0865:0.0:0.7525:0.161	.	2	Q9UNA3	A4GCT_HUMAN	W	2	ENSP00000236709:R2W	ENSP00000236709:R2W	R	-	1	2	A4GNT	139332785	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.020000	0.30027	2.470000	0.83445	0.561000	0.74099	CGG		0.473	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		6	26	0	0	0	0	6	26				
CLSTN2	64084	broad.mit.edu	37	3	140185547	140185547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:140185547G>A	ENST00000458420.3	+	8	1508	c.1318G>A	c.(1318-1320)Gcg>Acg	p.A440T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	440					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTTCGCCCCGCGGAGTTCCA	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1318-1320)GCG>ACG		calsyntenin 2 precursor							63.0	56.0	58.0					3																	140185547		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185547G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1318G>A	3.37:g.140185547G>A	ENSP00000402460:p.Ala440Thr	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.A440T	p.A440T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			8	1508	+			440			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1318G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344207	0.82022	.	.	ENSG00000158258	ENST00000458420	T	0.02236	4.38	5.2	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.355763	0.31636	N	0.007312	T	0.08670	0.0215	M	0.79805	2.47	0.80722	D	1	D	0.61080	0.989	P	0.54401	0.751	T	0.01413	-1.1361	10	0.72032	D	0.01	-1.9721	11.429	0.50029	0.0871:0.0:0.9129:0.0	.	440	Q9H4D0	CSTN2_HUMAN	T	440	ENSP00000402460:A440T	ENSP00000402460:A440T	A	+	1	0	CLSTN2	141668237	1.000000	0.71417	0.022000	0.16811	0.758000	0.43043	9.657000	0.98554	1.415000	0.47037	0.655000	0.94253	GCG		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		6	28	0	0	0	0	6	28				
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1357-1359)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							137.0	130.0	132.0					3																	178928079		1829	4090	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928079G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1514	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1357G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	59	0	0	0	0	16	59				
BOD1L1	259282	broad.mit.edu	37	4	13602988	13602988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:13602988C>A	ENST00000040738.5	-	10	5671	c.5536G>T	c.(5536-5538)Gct>Tct	p.A1846S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1846						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAAGGACCAGCAGCAACTAAT	0.473																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(5536-5538)GCT>TCT		biorientation of chromosomes in cell division							126.0	124.0	125.0					4																	13602988		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602988C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5536G>T	4.37:g.13602988C>A	ENSP00000040738:p.Ala1846Ser					BOD1L_uc010idr.1_Missense_Mutation_p.A1183S	p.A1846S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5653	-			1846					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5536G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202410	0.22121	.	.	ENSG00000038219	ENST00000040738	T	0.07444	3.19	5.21	1.38	0.22167	.	0.666605	0.13758	N	0.364793	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.44345	-0.9334	10	0.23891	T	0.37	-1.1536	4.5633	0.12170	0.1126:0.4277:0.329:0.1306	.	1846	Q8NFC6	BOD1L_HUMAN	S	1846	ENSP00000040738:A1846S	ENSP00000040738:A1846S	A	-	1	0	BOD1L	13212086	0.000000	0.05858	0.002000	0.10522	0.679000	0.39708	-1.013000	0.03645	-0.064000	0.13043	0.561000	0.74099	GCT		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	67	1	0	0.000219431	0.000229406	14	67				
FRYL	285527	broad.mit.edu	37	4	48523208	48523208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:48523208C>A	ENST00000503238.1	-	52	7545	c.7546G>T	c.(7546-7548)Gaa>Taa	p.E2516*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.E2516*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E2516*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTATTGTTTCATCAGTGGCA	0.388																																						uc003gyh.1		NA																	0				skin(1)	1						c.(7546-7548)GAA>TAA		furry-like							109.0	102.0	104.0					4																	48523208		1887	4113	6000	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523208C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7546G>T	4.37:g.48523208C>A	ENSP00000426064:p.Glu2516*					FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Nonsense_Mutation_p.E1212*|FRYL_uc003gyi.1_Nonsense_Mutation_p.E1404*|FRYL_uc003gyj.1_Nonsense_Mutation_p.E811*	p.E2516*	NM_015030	NP_055845	O94915	FRYL_HUMAN			55	8151	-			2516					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.7546G>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.634754|17.634754	0.99890|0.99890	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.304500|.	0.34088|.	N|.	0.004280|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.42905|.	T|.	0.14|.	.|.	20.0361|20.0361	0.97558|0.97558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2516|1385	.|.	ENSP00000351113:E2516X|.	E|X	-|-	1|2	0|2	FRYL|FRYL	48217965|48217965	1.000000|1.000000	0.71417|0.71417	0.030000|0.030000	0.17652|0.17652	0.001000|0.001000	0.01503|0.01503	7.487000|7.487000	0.81328|0.81328	2.740000|2.740000	0.93945|0.93945	0.563000|0.563000	0.77884|0.77884	GAA|TGA		0.388	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			12	45	1	0	1.58e-08	1.76e-08	12	45				
CEP135	9662	broad.mit.edu	37	4	56823519	56823519	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:56823519G>A	ENST00000257287.4	+	5	727	c.603G>A	c.(601-603)gtG>gtA	p.V201V	CEP135_ENST00000422247.2_Silent_p.V201V	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	201					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCCTTCAAGTGGCTGATAACA	0.413																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(601-603)GTG>GTA		centrosome protein 4							100.0	98.0	99.0					4																	56823519		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56823519G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.603G>A	4.37:g.56823519G>A						CEP135_uc003hbh.1_Silent_p.V201V|CEP135_uc010igz.1_Silent_p.V31V	p.V201V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			5	837	+	Glioma(25;0.08)|all_neural(26;0.101)		201			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.603G>A	CCDS33986.1																																																																																				0.413	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		11	53	0	0	0	0	11	53				
SULT1E1	6783	broad.mit.edu	37	4	70713465	70713465	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:70713465T>C	ENST00000226444.3	-	6	654	c.542A>G	c.(541-543)aAg>aGg	p.K181R		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ACTCTTTCCCTTTTCCCACCA	0.373																																						uc003heo.2		NA																	0				ovary(1)	1						c.(541-543)AAG>AGG		estrogen sulfotransferase							101.0	101.0	101.0					4																	70713465		2203	4299	6502	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713465T>C	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.542A>G	4.37:g.70713465T>C	ENSP00000226444:p.Lys181Arg						p.K181R	NM_005420	NP_005411	P49888	ST1E1_HUMAN			6	655	-			181					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.542A>G	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	T	6.523	0.464767	0.12402	.	.	ENSG00000109193	ENST00000226444	D	0.81996	-1.56	4.21	1.61	0.23674	Sulfotransferase domain (1);	0.213134	0.41194	D	0.000932	T	0.67655	0.2916	L	0.35341	1.055	0.34216	D	0.674848	B	0.09022	0.002	B	0.16289	0.015	T	0.56866	-0.7908	10	0.21014	T	0.42	.	3.4375	0.07452	0.4064:0.0991:0.0:0.4945	.	181	P49888	ST1E1_HUMAN	R	181	ENSP00000226444:K181R	ENSP00000226444:K181R	K	-	2	0	SULT1E1	70748054	1.000000	0.71417	0.824000	0.32777	0.522000	0.34438	2.559000	0.45888	0.341000	0.23771	0.528000	0.53228	AAG		0.373	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		3	63	0	0	0	0	3	63				
HELQ	113510	broad.mit.edu	37	4	84348802	84348802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:84348802C>T	ENST00000295488.3	-	13	2752	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	HELQ_ENST00000510985.1_Missense_Mutation_p.E797K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	864					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAGGCTTTCAAGCACAAGT	0.368								Other identified genes with known or suspected DNA repair function																														uc003hom.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2590-2592)GAA>AAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							101.0	101.0	101.0					4																	84348802		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84348802C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2590G>A	4.37:g.84348802C>T	ENSP00000295488:p.Glu864Lys					HELQ_uc010ikb.2_Missense_Mutation_p.E797K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.E864K	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			13	2769	-			864					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2590G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516344	0.44763	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.64991	0.18;-0.13	5.38	5.38	0.77491	.	0.096968	0.64402	D	0.000001	T	0.73345	0.3575	M	0.81341	2.54	0.50813	D	0.999898	D;P	0.62365	0.991;0.885	P;B	0.55508	0.777;0.244	T	0.71507	-0.4572	10	0.06365	T	0.9	.	19.1253	0.93380	0.0:1.0:0.0:0.0	.	797;864	E3W980;Q8TDG4	.;HELQ_HUMAN	K	864;797	ENSP00000295488:E864K;ENSP00000424539:E797K	ENSP00000295488:E864K	E	-	1	0	HELQ	84567826	1.000000	0.71417	0.989000	0.46669	0.210000	0.24377	6.005000	0.70716	2.513000	0.84729	0.563000	0.77884	GAA		0.368	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		10	47	0	0	0	0	10	47				
CCSER1	401145	broad.mit.edu	37	4	91389411	91389411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:91389411G>A	ENST00000509176.1	+	5	1918	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	CCSER1_ENST00000432775.2_Missense_Mutation_p.V544I|CCSER1_ENST00000333691.8_Missense_Mutation_p.V544I	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	544																	ATATCACTCTGTCGTCTCATG	0.398																																						uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1630-1632)GTC>ATC		KIAA1680 protein isoform 1							77.0	73.0	74.0					4																	91389411		1845	4093	5938	SO:0001583	missense	401145							g.chr4:91389411G>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1630G>A	4.37:g.91389411G>A	ENSP00000425040:p.Val544Ile					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.V544I	p.V544I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			5	1970	+			544					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1630G>A	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	7.085	0.570970	0.13623	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.43688	1.51;0.94;1.51	4.63	1.83	0.25207	.	0.313759	0.30293	N	0.009942	T	0.21307	0.0513	N	0.25647	0.755	0.23063	N	0.998353	B;B	0.11235	0.0;0.004	B;B	0.09377	0.001;0.004	T	0.22765	-1.0207	10	0.07990	T	0.79	-7.1545	4.8655	0.13606	0.2722:0.1577:0.5701:0.0	.	544;544	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	I	544	ENSP00000425040:V544I;ENSP00000389283:V544I;ENSP00000329482:V544I	ENSP00000329482:V544I	V	+	1	0	FAM190A	91608434	0.996000	0.38824	0.962000	0.40283	0.045000	0.14185	0.910000	0.28571	0.227000	0.20999	-0.373000	0.07131	GTC		0.398	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		4	24	0	0	0	0	4	24				
TRPC3	7222	broad.mit.edu	37	4	122800994	122800994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:122800994C>T	ENST00000379645.3	-	12	2736	c.2663G>A	c.(2662-2664)cGt>cAt	p.R888H	TRPC3_ENST00000264811.5_Missense_Mutation_p.R815H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R760H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	803					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTCATAACGAAGGCTGGA	0.333																																						uc003ieg.2		NA																	0				ovary(2)	2						c.(2662-2664)CGT>CAT		transient receptor potential cation channel,							136.0	128.0	131.0					4																	122800994		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122800994C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2663G>A	4.37:g.122800994C>T	ENSP00000368966:p.Arg888His					TRPC3_uc010inr.2_Missense_Mutation_p.R760H|TRPC3_uc003ief.2_Missense_Mutation_p.R815H|TRPC3_uc011cgl.1_Missense_Mutation_p.R552H	p.R888H	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			12	2737	-			803			Extracellular (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2663G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373276	0.82573	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.89552	-2.53;-2.53;-2.53	6.16	6.16	0.99307	.	0.136176	0.52532	D	0.000074	D	0.93825	0.8025	M	0.88181	2.935	0.80722	D	1	D;D;P	0.57571	0.98;0.98;0.801	P;P;B	0.50825	0.651;0.651;0.339	D	0.93916	0.7201	10	0.66056	D	0.02	-39.4605	20.8598	0.99761	0.0:1.0:0.0:0.0	.	803;760;888	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	815;888;760	ENSP00000264811:R815H;ENSP00000368966:R888H;ENSP00000426899:R760H	ENSP00000264811:R815H	R	-	2	0	TRPC3	123020444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.121000	0.77160	2.937000	0.99478	0.650000	0.86243	CGT		0.333	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		9	28	0	0	0	0	9	28				
FAT4	79633	broad.mit.edu	37	4	126336256	126336256	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:126336256T>A	ENST00000394329.3	+	5	6151	c.6138T>A	c.(6136-6138)gaT>gaA	p.D2046E	FAT4_ENST00000335110.5_Missense_Mutation_p.D344E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2046	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTAAATGATAACCCACCGA	0.408																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6136-6138)GAT>GAA		FAT tumor suppressor homolog 4 precursor							167.0	166.0	166.0					4																	126336256		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336256T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6138T>A	4.37:g.126336256T>A	ENSP00000377862:p.Asp2046Glu					FAT4_uc011cgp.1_Missense_Mutation_p.D344E	p.D2046E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6138	+			2046			Cadherin 19.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6138T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521071	0.64747	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91631	-2.88;-2.88	5.0	-1.89	0.07689	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35096	U	0.003452	D	0.96043	0.8711	M	0.93462	3.42	0.52501	D	0.999959	D;D	0.71674	0.997;0.998	D;D	0.77557	0.983;0.99	D	0.94702	0.7884	10	0.62326	D	0.03	.	11.372	0.49704	0.0:0.575:0.0:0.425	.	344;2046	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	E	2046;344	ENSP00000377862:D2046E;ENSP00000335169:D344E	ENSP00000335169:D344E	D	+	3	2	FAT4	126555706	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	0.855000	0.27805	-0.320000	0.08640	-0.379000	0.06801	GAT		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		24	118	0	0	0	0	24	118				
MCCC2	64087	broad.mit.edu	37	5	70948526	70948526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:70948526G>T	ENST00000340941.6	+	16	1648	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.E469*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	507	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|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)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGCTTTAAAAGAGCCCATCAT	0.463																																						uc003kbs.3		NA																	0				ovary(1)	1						c.(1519-1521)GAG>TAG		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						62.0	61.0	62.0					5																	70948526		2203	4300	6503	SO:0001587	stop_gained	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70948526G>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1519G>T	5.37:g.70948526G>T	ENSP00000343657:p.Glu507*					MCCC2_uc003kbt.3_RNA	p.E507*	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	16	1657	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	507			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Nonsense_Mutation	SNP	ENST00000340941.6	37	c.1519G>T	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453747	0.84209	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.44	5.44	0.79542	.	0.101746	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-20.7298	18.0331	0.89291	0.0:0.0:1.0:0.0	.	.	.	.	X	507;469;279	.	ENSP00000327308:E469X	E	+	1	0	MCCC2	70984282	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.198000	0.72106	2.556000	0.86216	0.491000	0.48974	GAG		0.463	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			9	32	1	0	2.18e-05	2.3e-05	9	32				
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:140476702C>T	ENST00000194155.4	+	1	2476	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	776					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(2326-2328)TTC>TTT		protocadherin beta 2 precursor							86.0	90.0	88.0					5																	140476702		2203	4297	6500	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476702C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2328C>T	5.37:g.140476702C>T						PCDHB2_uc003lim.1_Silent_p.F437F	p.F776F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2466	+			776			Cytoplasmic (Potential).		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2328C>T	CCDS4244.1																																																																																				0.507	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		20	79	0	0	0	0	20	79				
SYNPO	11346	broad.mit.edu	37	5	150027825	150027825	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150027825C>T	ENST00000394243.1	+	3	1094	c.720C>T	c.(718-720)gtC>gtT	p.V240V	SYNPO_ENST00000522122.1_Silent_p.V240V|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	240					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGAGGGGTCCCTGGCCACA	0.667																																						uc003lsn.2		NA																	0				large_intestine(1)	1						c.(718-720)GTC>GTT		synaptopodin isoform B							34.0	41.0	38.0					5																	150027825		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027825C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.720C>T	5.37:g.150027825C>T						SYNPO_uc003lso.3_5'UTR|SYNPO_uc003lsp.2_5'UTR	p.V240V	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1094	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	240					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.720C>T	CCDS54937.1																																																																																				0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		10	23	0	0	0	0	10	23				
FAT2	2196	broad.mit.edu	37	5	150922849	150922849	+	Missense_Mutation	SNP	A	A	C	rs374332626		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150922849A>C	ENST00000261800.5	-	9	7851	c.7839T>G	c.(7837-7839)gaT>gaG	p.D2613E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2613	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGACCTTCATCTGCATCAT	0.458																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(7837-7839)GAT>GAG		FAT tumor suppressor 2 precursor							218.0	215.0	216.0					5																	150922849		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922849A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7839T>G	5.37:g.150922849A>C	ENSP00000261800:p.Asp2613Glu					GM2A_uc011dcs.1_Intron	p.D2613E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7852	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2613			Cadherin 23.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7839T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894114	0.52121	.	.	ENSG00000086570	ENST00000261800	T	0.73789	-0.78	5.36	-0.982	0.10266	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.90038	0.6889	H	0.99238	4.48	0.49299	D	0.999779	D	0.89917	1.0	D	0.87578	0.998	D	0.88893	0.3347	10	0.87932	D	0	.	9.9477	0.41621	0.6832:0.0:0.3168:0.0	.	2613	Q9NYQ8	FAT2_HUMAN	E	2613	ENSP00000261800:D2613E	ENSP00000261800:D2613E	D	-	3	2	FAT2	150903042	0.635000	0.27199	0.995000	0.50966	0.973000	0.67179	0.004000	0.13106	-0.165000	0.10908	0.379000	0.24179	GAT		0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	154	0	0	0	0	39	154				
HAVCR2	84868	broad.mit.edu	37	5	156514184	156514184	+	Missense_Mutation	SNP	C	C	T	rs568064038		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:156514184C>T	ENST00000307851.4	-	7	1565	c.835G>A	c.(835-837)Gag>Aag	p.E279K	HAVCR2_ENST00000522593.1_Missense_Mutation_p.E251K	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	279						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATAATACTCATTGGGCTCC	0.463																																						uc003lwk.1		NA																	0					0						c.(835-837)GAG>AAG		T cell immunoglobulin mucin 3 precursor							132.0	108.0	116.0					5																	156514184		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156514184C>T	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.835G>A	5.37:g.156514184C>T	ENSP00000312002:p.Glu279Lys						p.E279K	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	979	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	279			Cytoplasmic (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.835G>A	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096312	0.56075	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.20332	2.08;2.23	4.3	2.49	0.30216	.	0.361717	0.24022	N	0.042261	T	0.18964	0.0455	M	0.63428	1.95	0.09310	N	1	B	0.27997	0.197	B	0.24269	0.052	T	0.21586	-1.0241	10	0.87932	D	0	-5.4927	5.5336	0.16999	0.194:0.7053:0.0:0.1007	.	279	Q8TDQ0	HAVR2_HUMAN	K	279;251	ENSP00000312002:E279K;ENSP00000430873:E251K	ENSP00000312002:E279K	E	-	1	0	HAVCR2	156446762	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.038000	0.12144	0.738000	0.32606	0.561000	0.74099	GAG		0.463	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			11	43	0	0	0	0	11	43				
DOCK2	1794	broad.mit.edu	37	5	169502981	169502981	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:169502981C>A	ENST00000256935.8	+	47	4839	c.4759C>A	c.(4759-4761)Cat>Aat	p.H1587N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.H648N|DOCK2_ENST00000520908.1_Missense_Mutation_p.H1079N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1587	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTAAGATCCATGAGAAAAG	0.532																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(4759-4761)CAT>AAT		dedicator of cytokinesis 2							155.0	159.0	157.0					5																	169502981		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169502981C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4759C>A	5.37:g.169502981C>A	ENSP00000256935:p.His1587Asn					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H1079N|DOCK2_uc003mah.2_Missense_Mutation_p.H143N	p.H1587N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4839	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1587			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4759C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989502	0.93106	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17054	2.3;2.3;2.3	5.18	5.18	0.71444	Cytochrome c domain (1);	0.057139	0.64402	D	0.000001	T	0.56046	0.1959	H	0.94620	3.56	0.80722	D	1	P;D;P	0.62365	0.87;0.991;0.552	P;D;P	0.79108	0.717;0.992;0.669	T	0.69654	-0.5087	10	0.87932	D	0	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	1079;143;1587	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	N	1587;1079;648	ENSP00000256935:H1587N;ENSP00000429283:H1079N;ENSP00000438827:H648N	ENSP00000256935:H1587N	H	+	1	0	DOCK2	169435559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.598000	0.87819	0.650000	0.86243	CAT		0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		23	107	1	0	1.97e-08	2.18e-08	23	107				
HIST1H4E	8367	broad.mit.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																						uc003ngy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)AGA>ACA		histone cluster 1, H4e							129.0	111.0	117.0					6																	26205150		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205150G>C	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr						p.R93T	NM_003545	NP_003536	P62805	H4_HUMAN			1	278	+		all_hematologic(11;0.196)	93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.278G>C	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		6	43	0	0	0	0	6	43				
MICB	4277	broad.mit.edu	37	6	31474816	31474816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:31474816G>A	ENST00000252229.6	+	4	710	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	MICB_ENST00000538442.1_Missense_Mutation_p.V179I|MICB_ENST00000399150.3_Missense_Mutation_p.V168I	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CATGGTGAATGTCACCTGCAG	0.587																																						uc003ntn.3		NA																	0					0						c.(631-633)GTC>ATC		MHC class I polypeptide-related sequence B							68.0	72.0	71.0					6																	31474816		1363	2605	3968	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474816G>A		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.631G>A	6.37:g.31474816G>A	ENSP00000252229:p.Val211Ile					MICB_uc011dnm.1_Missense_Mutation_p.V179I|MICB_uc003nto.3_Missense_Mutation_p.V168I	p.V211I	NM_005931	NP_005922	Q29980	MICB_HUMAN			4	747	+			211			Ig-like C1-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000252229.6	37	c.631G>A	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	g	9.579	1.123095	0.20959	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.14516	2.5;2.5;2.5	2.73	1.84	0.25277	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22360	0.0539	M	0.81239	2.535	0.09310	N	1	P;B;B	0.39116	0.66;0.093;0.003	D;B;B	0.71414	0.973;0.047;0.019	T	0.22556	-1.0213	9	0.87932	D	0	.	5.5895	0.17293	0.1654:0.0:0.8346:0.0	.	179;168;211	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	I	179;168;211	ENSP00000442345:V179I;ENSP00000382103:V168I;ENSP00000252229:V211I	ENSP00000252229:V211I	V	+	1	0	MICB	31582795	0.612000	0.27000	0.002000	0.10522	0.031000	0.12232	1.899000	0.39818	0.468000	0.27243	0.305000	0.20034	GTC		0.587	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		10	42	0	0	0	0	10	42				
ENPP1	5167	broad.mit.edu	37	6	132195426	132195426	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:132195426A>G	ENST00000360971.2	+	16	1604	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	528	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGAAAGGAAATATTGTGGAA	0.259																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(1582-1584)AAA>AAG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						98.0	108.0	105.0					6																	132195426		2203	4292	6495	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195426A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1584A>G	6.37:g.132195426A>G						ENPP1_uc003qcy.2_Silent_p.K158K	p.K528K	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1604	+	Breast(56;0.0505)		528			Phosphodiesterase.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.1584A>G	CCDS5150.2																																																																																				0.259	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			19	83	0	0	0	0	19	83				
SYNE1	23345	broad.mit.edu	37	6	152647096	152647096	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:152647096G>T	ENST00000367255.5	-	80	16036	c.15435C>A	c.(15433-15435)caC>caA	p.H5145Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.H5074Q|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.H5145Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H5074Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5145					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGACCTTGTGTTCTGACA	0.313										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(15433-15435)CAC>CAA		spectrin repeat containing, nuclear envelope 1							88.0	90.0	89.0					6																	152647096		2202	4300	6502	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647096G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15435C>A	6.37:g.152647096G>T	ENSP00000356224:p.His5145Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.H5074Q|SYNE1_uc003qou.3_Missense_Mutation_p.H5145Q|SYNE1_uc010kiz.2_Missense_Mutation_p.H900Q	p.H5145Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	80	16037	-		Ovarian(120;0.0955)	5145			Spectrin 16.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15435C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048834	0.36181	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.07	4.31	0.51392	.	0.000000	0.64402	D	0.000003	T	0.43590	0.1254	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	D;P;P;D	0.65443	0.935;0.863;0.863;0.93	T	0.47368	-0.9123	10	0.23891	T	0.37	.	5.8666	0.18779	0.2489:0.0:0.6194:0.1318	.	5145;5145;5145;5074	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5145;5074;5145;5074	ENSP00000356224:H5145Q;ENSP00000396024:H5074Q;ENSP00000265368:H5145Q;ENSP00000390975:H5074Q	ENSP00000265368:H5145Q	H	-	3	2	SYNE1	152688789	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.528000	0.35985	0.913000	0.36797	0.655000	0.94253	CAC		0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	31	1	0	0.00024832	0.000256912	4	31				
SCAF8	22828	broad.mit.edu	37	6	155153217	155153217	+	Missense_Mutation	SNP	C	C	T	rs370157028		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:155153217C>T	ENST00000367178.3	+	20	3080	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.S901F|SCAF8_ENST00000417268.1_Missense_Mutation_p.S835F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	835	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCTAATGTTTCCAGTAGTTCT	0.423																																						uc003qqa.2		NA																	0					0						c.(2503-2505)TCC>TTC		RNA-binding motif protein 16							83.0	87.0	85.0					6																	155153217		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153217C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2504C>T	6.37:g.155153217C>T	ENSP00000356146:p.Ser835Phe					TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.S901F|RBM16_uc011efk.1_Missense_Mutation_p.S880F|RBM16_uc003qpz.2_Missense_Mutation_p.S835F|RBM16_uc010kji.2_Intron	p.S835F	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	2736	+		Ovarian(120;0.196)	835			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2504C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326284	0.81580	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.47528	0.86;0.86;0.84	5.61	5.61	0.85477	.	0.329715	0.25006	U	0.033876	T	0.61198	0.2328	M	0.68952	2.095	0.43304	D	0.9953	D;D;D	0.65815	0.971;0.971;0.995	P;P;D	0.75484	0.641;0.641;0.986	T	0.57631	-0.7778	10	0.40728	T	0.16	.	17.8281	0.88672	0.0:1.0:0.0:0.0	.	880;901;835	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	F	835;835;901	ENSP00000356146:S835F;ENSP00000413098:S835F;ENSP00000356154:S901F	ENSP00000356146:S835F	S	+	2	0	SCAF8	155194909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.653000	0.90120	0.655000	0.94253	TCC		0.423	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		11	84	0	0	0	0	11	84				
HDAC9	9734	broad.mit.edu	37	7	18788641	18788641	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:18788641C>T	ENST00000432645.2	+	13	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	HDAC9_ENST00000401921.1_Silent_p.D597D|HDAC9_ENST00000406451.4_Silent_p.D638D|HDAC9_ENST00000441542.2_Silent_p.D641D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	638	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCCTATGACCCCTTGATGC	0.428																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1912-1914)GAC>GAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						82.0	79.0	80.0					7																	18788641		1926	4145	6071	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788641C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1914C>T	7.37:g.18788641C>T						HDAC9_uc003sue.2_Silent_p.D638D|HDAC9_uc011jyd.1_Silent_p.D638D|HDAC9_uc003sui.2_Silent_p.D641D|HDAC9_uc003suj.2_Silent_p.D597D|HDAC9_uc003sua.1_Silent_p.D616D|HDAC9_uc010kue.1_Silent_p.D293D	p.D638D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			13	1955	+	all_lung(11;0.187)		638			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1914C>T	CCDS47555.1																																																																																				0.428	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			6	15	0	0	0	0	6	15				
BBS9	27241	broad.mit.edu	37	7	33185916	33185916	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:33185916G>C	ENST00000242067.6	+	2	573	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	BBS9_ENST00000354265.4_Missense_Mutation_p.E18Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E18Q|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000355070.2_Missense_Mutation_p.E18Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E18Q|BBS9_ENST00000482941.1_3'UTR	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	18					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGGAGATAAAGAAGAATTTGA	0.333									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(52-54)GAA>CAA		parathyroid hormone-responsive B1 isoform 2							165.0	161.0	163.0					7																	33185916		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33185916G>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.52G>C	7.37:g.33185916G>C	ENSP00000242067:p.Glu18Gln					BBS9_uc003tdo.1_Missense_Mutation_p.E18Q|BBS9_uc003tdp.1_Missense_Mutation_p.E18Q|BBS9_uc003tdq.1_Missense_Mutation_p.E18Q|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.E18Q	p.E18Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		2	565	+			18					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.52G>C	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912477	0.92178	.	.	ENSG00000122507	ENST00000432983;ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.95017	0.8157	10	0.72032	D	0.01	-10.0898	19.2234	0.93808	0.0:0.0:1.0:0.0	.	18;18;18;18;18	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	Q	18	ENSP00000415794:E18Q;ENSP00000242067:E18Q;ENSP00000313122:E18Q;ENSP00000379433:E18Q;ENSP00000347182:E18Q;ENSP00000346214:E18Q	ENSP00000242067:E18Q	E	+	1	0	BBS9	33152441	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.488000	0.97947	2.624000	0.88883	0.561000	0.74099	GAA		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			15	58	0	0	0	0	15	58				
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(3463-3465)ACA>GCA		polycystin-1L1							181.0	140.0	154.0					7																	47920383		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920383T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3463A>G	7.37:g.47920383T>C	ENSP00000289672:p.Thr1155Ala						p.T1155A	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			21	3463	-			1155			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3463A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661784	0.47572	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.316248	0.25741	N	0.028601	T	0.72187	0.3429	L	0.59436	1.845	0.24382	N	0.994781	D	0.56968	0.978	P	0.57620	0.824	T	0.64093	-0.6488	10	0.42905	T	0.14	-10.5118	10.4175	0.44331	0.0:0.0:0.0:1.0	.	1155	Q8TDX9	PK1L1_HUMAN	A	1155	ENSP00000289672:T1155A	ENSP00000289672:T1155A	T	-	1	0	PKD1L1	47886908	0.999000	0.42202	0.843000	0.33291	0.180000	0.23129	3.387000	0.52501	1.792000	0.52537	0.529000	0.55759	ACA		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	43	0	0	0	0	9	43				
ABCB4	5244	broad.mit.edu	37	7	87081037	87081037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:87081037C>T	ENST00000265723.4	-	7	721	c.610G>A	c.(610-612)Gca>Aca	p.A204T	ABCB4_ENST00000453593.1_Missense_Mutation_p.A204T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A204T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A204T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A204T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATGAATCCTGCAAAAAACGTG	0.443																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(610-612)GCA>ACA		ATP-binding cassette, subfamily B, member 4							192.0	158.0	169.0					7																	87081037		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87081037C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.610G>A	7.37:g.87081037C>T	ENSP00000265723:p.Ala204Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.A204T|ABCB4_uc003uix.1_Missense_Mutation_p.A204T	p.A204T	NM_018849	NP_061337	P21439	MDR3_HUMAN			7	686	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		204			Helical; (By similarity).|ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.610G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880766	0.17467	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.95	4.16	0.48862	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.162993	0.53938	D	0.000043	T	0.79587	0.4471	N	0.13235	0.315	0.37908	D	0.931262	B;B;B	0.13145	0.007;0.002;0.003	B;B;B	0.19666	0.026;0.009;0.016	T	0.72360	-0.4317	10	0.07990	T	0.79	-14.6815	10.435	0.44430	0.0:0.7898:0.0:0.2102	.	204;204;204	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	204	ENSP00000352135:A204T;ENSP00000351172:A204T;ENSP00000265723:A204T;ENSP00000392983:A204T;ENSP00000437465:A204T	ENSP00000265723:A204T	A	-	1	0	ABCB4	86918973	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.189000	0.09629	1.541000	0.49316	0.655000	0.94253	GCA		0.443	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		15	76	0	0	0	0	15	76				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393451.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		6	22	0	0	0	0	6	22				
CEP41	95681	broad.mit.edu	37	7	130039889	130039889	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:130039889C>A	ENST00000223208.5	-	10	1234	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	322					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTAGGATGATCTGCAGGCCCT	0.383																																						uc003vpz.2		NA																	0					0						c.(964-966)GAT>TAT		testis specific, 14							70.0	76.0	74.0					7																	130039889		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130039889C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.964G>T	7.37:g.130039889C>A	ENSP00000223208:p.Asp322Tyr					TSGA14_uc003vpy.2_Missense_Mutation_p.D84Y|TSGA14_uc010lmf.2_Missense_Mutation_p.D119Y|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	p.D322Y	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			10	1011	-	Melanoma(18;0.0435)		322					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.964G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442875	0.25987	.	.	ENSG00000106477	ENST00000223208	D	0.90788	-2.73	5.64	2.85	0.33270	.	0.514050	0.23797	N	0.044470	D	0.90106	0.6909	L	0.56769	1.78	0.45515	D	0.998476	D	0.55385	0.971	P	0.51487	0.671	D	0.88649	0.3181	10	0.87932	D	0	-6.8391	8.1169	0.30948	0.0:0.6866:0.0:0.3134	.	322	Q9BYV8	CEP41_HUMAN	Y	322	ENSP00000223208:D322Y	ENSP00000223208:D322Y	D	-	1	0	TSGA14	129827125	0.988000	0.35896	0.063000	0.19743	0.062000	0.15995	2.772000	0.47678	0.729000	0.32403	-0.136000	0.14681	GAT		0.383	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		14	74	1	0	1.58e-08	1.76e-08	14	74				
KCNU1	157855	broad.mit.edu	37	8	36673194	36673194	+	Silent	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:36673194C>G	ENST00000399881.3	+	9	1021	c.984C>G	c.(982-984)ctC>ctG	p.L328L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	328					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAAGCACTCAAAGGAAAGA	0.323																																						uc010lvw.2		NA																	0				ovary(1)	1						c.(982-984)CTC>CTG		potassium channel, subfamily U, member 1							79.0	77.0	78.0					8																	36673194		1825	4076	5901	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36673194C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.984C>G	8.37:g.36673194C>G						KCNU1_uc003xjw.2_RNA	p.L328L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	9	1071	+			328			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.984C>G	CCDS55220.1																																																																																				0.323	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		6	26	0	0	0	0	6	26				
GOT1L1	137362	broad.mit.edu	37	8	37793279	37793279	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:37793279T>C	ENST00000307599.4	-	7	971	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GOT1L1_ENST00000518826.1_Missense_Mutation_p.N32S	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TGCACCCGTGTTGGGGGGGTT	0.612																																						uc011lbj.1		NA																	0				ovary(1)	1						c.(871-873)AAC>AGC		glutamic-oxaloacetic transaminase 1-like 1							49.0	54.0	52.0					8																	37793279		2033	4197	6230	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793279T>C	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.872A>G	8.37:g.37793279T>C	ENSP00000303077:p.Asn291Ser						p.N291S	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	972	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	291					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.872A>G	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.858994	0.00552	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97378	-4.36;-4.36	5.11	-2.03	0.07365	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.165660	0.06358	N	0.711211	D	0.91486	0.7312	N	0.13098	0.295	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.82024	-0.0662	10	0.24483	T	0.36	-4.8238	9.4575	0.38764	0.0:0.4273:0.2203:0.3524	.	291	Q8NHS2	AATC2_HUMAN	S	291;32	ENSP00000303077:N291S;ENSP00000429558:N32S	ENSP00000303077:N291S	N	-	2	0	GOT1L1	37912437	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.521000	0.22893	-0.368000	0.08040	-1.252000	0.01501	AAC		0.612	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		9	22	0	0	0	0	9	22				
ARFGEF1	10565	broad.mit.edu	37	8	68208832	68208832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:68208832G>A	ENST00000262215.3	-	5	862	c.473C>T	c.(472-474)gCa>gTa	p.A158V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	158	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGTTACTGCAGTAAGTAA	0.348																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(472-474)GCA>GTA		brefeldin A-inhibited guanine							124.0	111.0	115.0					8																	68208832		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68208832G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.473C>T	8.37:g.68208832G>A	ENSP00000262215:p.Ala158Val						p.A158V	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		5	863	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	158					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.473C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281899	0.23392	.	.	ENSG00000066777	ENST00000262215	T	0.24151	1.87	4.66	4.66	0.58398	Armadillo-type fold (1);	0.059429	0.64402	D	0.000002	T	0.18923	0.0454	L	0.28504	0.86	0.80722	D	1	B	0.23058	0.079	B	0.19946	0.027	T	0.04855	-1.0922	10	0.07644	T	0.81	.	17.5616	0.87909	0.0:0.0:1.0:0.0	.	158	Q9Y6D6	BIG1_HUMAN	V	158	ENSP00000262215:A158V	ENSP00000262215:A158V	A	-	2	0	ARFGEF1	68371386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.508000	0.98000	2.143000	0.66587	0.585000	0.79938	GCA		0.348	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		3	31	0	0	0	0	3	31				
RBM12B	389677	broad.mit.edu	37	8	94748464	94748464	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:94748464G>A	ENST00000399300.2	-	3	388	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	RBM12B_ENST00000517700.1_Missense_Mutation_p.R59C|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	59							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTGAACGACTTATGGCA	0.403																																						uc003yfz.2		NA																	0					0						c.(175-177)CGT>TGT		RNA binding motif protein 12B							151.0	142.0	145.0					8																	94748464		1822	4091	5913	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748464G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.175C>T	8.37:g.94748464G>A	ENSP00000382239:p.Arg59Cys						p.R59C	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	368	-	Breast(36;4.14e-07)		59					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.175C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508441	0.44660	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.16073	3.07;3.07;2.37;2.37;3.07;3.07	5.71	4.83	0.62350	Nucleotide-binding, alpha-beta plait (1);	0.104323	0.43260	D	0.000588	T	0.14485	0.0350	L	0.49571	1.57	0.80722	D	1	B	0.32862	0.387	B	0.27076	0.076	T	0.02417	-1.1162	10	0.40728	T	0.16	-17.7438	9.0806	0.36550	0.1681:0.0:0.8319:0.0	.	59	Q8IXT5	RB12B_HUMAN	C	59	ENSP00000382239:R59C;ENSP00000427729:R59C;ENSP00000430474:R59C;ENSP00000428269:R59C;ENSP00000429807:R59C;ENSP00000430466:R59C	ENSP00000382239:R59C	R	-	1	0	RBM12B	94817640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.093000	0.71422	2.688000	0.91661	0.655000	0.94253	CGT		0.403	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		31	99	0	0	0	0	31	99				
UNC13B	10497	broad.mit.edu	37	9	35389887	35389887	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:35389887C>A	ENST00000378495.3	+	24	3114	c.2892C>A	c.(2890-2892)aaC>aaA	p.N964K	UNC13B_ENST00000396787.1_Missense_Mutation_p.N976K|UNC13B_ENST00000378496.4_Missense_Mutation_p.N964K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	964					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCGGAACCTGGATTTCT	0.483																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(2890-2892)AAC>AAA		UNC13 (C. elegans)-like							155.0	151.0	152.0					9																	35389887		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35389887C>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2892C>A	9.37:g.35389887C>A	ENSP00000367756:p.Asn964Lys					UNC13B_uc003zwr.2_Missense_Mutation_p.N964K	p.N964K	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		24	3184	+	all_epithelial(49;0.212)		964					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2892C>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346428	0.82022	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83591	-1.62;-1.55;-1.74	5.39	4.47	0.54385	Calcium-dependent secretion activator (1);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.63880	0.975;0.993	P;D	0.67382	0.778;0.951	D	0.90522	0.4489	10	0.72032	D	0.01	-24.7734	13.471	0.61281	0.0:0.8718:0.0:0.1282	.	964;964	F8W8M9;O14795	.;UN13B_HUMAN	K	976;964;964;551	ENSP00000380006:N976K;ENSP00000367756:N964K;ENSP00000367757:N964K	ENSP00000367756:N964K	N	+	3	2	UNC13B	35379887	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	1.224000	0.32539	2.677000	0.91161	0.655000	0.94253	AAC		0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		23	83	1	0	1.5e-11	1.69e-11	23	83				
CCDC180	100499483	broad.mit.edu	37	9	100137790	100137790	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:100137790C>A	ENST00000357054.1	+	48	5663	c.4728C>A	c.(4726-4728)ctC>ctA	p.L1576L	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.L1631L|CCDC180_ENST00000375202.2_Silent_p.L1631L|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1576						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGATTCTTCTCCAGCCAACAT	0.522																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(5308-5310)CTC>CTA		hypothetical protein LOC57653							172.0	137.0	149.0					9																	100137790		2203	4300	6503	SO:0001819	synonymous_variant	57653							g.chr9:100137790C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4728C>A	9.37:g.100137790C>A						KIAA1529_uc004axe.1_Silent_p.L1576L|KIAA1529_uc004axg.1_Silent_p.L1631L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L724L	p.L1770L	NM_020893	NP_065944					48	6083	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.5310C>A																																																																																					0.522	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		14	50	1	0	3.27e-08	3.61e-08	14	50				
BRINP1	1620	broad.mit.edu	37	9	121971050	121971050	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:121971050G>A	ENST00000265922.3	-	7	1553	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	364					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CACTGAGGCCGAAAAGCTTGC	0.587																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1090-1092)TTC>TTT		deleted in bladder cancer 1 precursor							222.0	185.0	198.0					9																	121971050		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971050G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1092C>T	9.37:g.121971050G>A							p.F364F	NM_014618	NP_055433	O60477	DBC1_HUMAN			7	1548	-			364					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1092C>T	CCDS6822.1																																																																																				0.587	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		10	35	0	0	0	0	10	35				
SPTAN1	6709	broad.mit.edu	37	9	131345356	131345356	+	Splice_Site	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:131345356G>T	ENST00000372731.4	+	15	1917	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	SPTAN1_ENST00000358161.5_Splice_Site_p.D603Y|SPTAN1_ENST00000372739.3_Splice_Site_p.D603Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	603					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTATTCACAGGATCCATCCAA	0.438																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(1807-1809)GAT>TAT		spectrin, alpha, non-erythrocytic 1							48.0	50.0	49.0					9																	131345356		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131345356G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1807-1G>T	9.37:g.131345356G>T						SPTAN1_uc011mbg.1_Missense_Mutation_p.D603Y|SPTAN1_uc011mbh.1_Missense_Mutation_p.D615Y|SPTAN1_uc004bvm.3_Missense_Mutation_p.D603Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.D603Y	p.D603Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			15	1920	+			603			Spectrin 7.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1807G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211673	0.79240	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50277	0.75;0.75;0.75	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;0.979;1.0	T	0.80745	-0.1245	9	.	.	.	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	603;603;603;603;603	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	603	ENSP00000350882:D603Y;ENSP00000361816:D603Y;ENSP00000361824:D603Y	.	D	+	1	0	SPTAN1	130385177	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAT		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Missense_Mutation	8	27	1	0	0.00307968	0.00314274	8	27				
NOTCH1	4851	broad.mit.edu	37	9	139401394	139401394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:139401394G>T	ENST00000277541.6	-	23	3750	c.3675C>A	c.(3673-3675)tgC>tgA	p.C1225*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1225	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGGGGGATTGCAGTCGTCCA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3673-3675)TGC>TGA		notch1 preproprotein							14.0	17.0	16.0					9																	139401394		2027	4163	6190	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401394G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3675C>A	9.37:g.139401394G>T	ENSP00000277541:p.Cys1225*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.C455*	p.C1225*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3675	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1225			Extracellular (Potential).|EGF-like 32; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.3675C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	39	7.540836	0.98348	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.23	2.01	0.26516	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1549	0.31162	0.2955:0.0:0.7045:0.0	.	.	.	.	X	1225	.	ENSP00000277541:C1225X	C	-	3	2	NOTCH1	138521215	1.000000	0.71417	0.489000	0.27452	0.050000	0.14768	3.580000	0.53907	0.414000	0.25790	0.655000	0.94253	TGC		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	6	1	0	0.00024832	0.000256912	3	6				
ATP7A	538	broad.mit.edu	37	X	77245061	77245061	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:77245061A>T	ENST00000341514.6	+	4	1098	c.943A>T	c.(943-945)Agg>Tgg	p.R315W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R315W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	315	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTTAGAGAATAGGTCTGCCAT	0.388																																						uc004ecx.3		NA																	0					0						c.(943-945)AGG>TGG		ATPase, Cu++ transporting, alpha polypeptide							167.0	160.0	162.0					X																	77245061		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245061A>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.943A>T	X.37:g.77245061A>T	ENSP00000345728:p.Arg315Trp					ATP7A_uc004ecw.2_Missense_Mutation_p.R315W	p.R315W	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			4	1103	+			315			HMA 3.|Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.943A>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766299	0.69878	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86366	-2.11;-2.11	5.41	5.41	0.78517	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.224065	0.46442	D	0.000294	D	0.94837	0.8332	M	0.93283	3.4	0.80722	D	1	P;D	0.65815	0.944;0.995	D;D	0.68483	0.911;0.958	D	0.95984	0.8980	10	0.87932	D	0	-7.3642	14.6101	0.68510	1.0:0.0:0.0:0.0	.	315;325	Q04656;Q59HD1	ATP7A_HUMAN;.	W	315;315;325	ENSP00000343026:R315W;ENSP00000345728:R315W	ENSP00000345728:R315W	R	+	1	2	ATP7A	77131717	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.774000	0.62339	1.831000	0.53308	0.478000	0.44815	AGG		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		34	166	0	0	0	0	34	166				
DRP2	1821	broad.mit.edu	37	X	100497333	100497333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:100497333C>A	ENST00000395209.3	+	8	1375	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	DRP2_ENST00000541709.1_Missense_Mutation_p.S205Y|DRP2_ENST00000402866.1_Missense_Mutation_p.S283Y|DRP2_ENST00000538510.1_Missense_Mutation_p.S283Y	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	283					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAAGAATTCTCCCCCATGAAA	0.478																																						uc004egz.2		NA																	0				ovary(2)	2						c.(847-849)TCC>TAC		dystrophin related protein 2							200.0	194.0	196.0					X																	100497333		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100497333C>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.848C>A	X.37:g.100497333C>A	ENSP00000378635:p.Ser283Tyr					DRP2_uc011mrh.1_Missense_Mutation_p.S205Y	p.S283Y	NM_001939	NP_001930	Q13474	DRP2_HUMAN			8	1217	+			283			Spectrin 2.		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.848C>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817823	0.71028	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.5	4.63	0.57726	.	0.179378	0.49916	D	0.000122	T	0.52025	0.1709	M	0.62723	1.935	0.52501	D	0.999955	B	0.29508	0.246	B	0.37943	0.261	T	0.54873	-0.8228	10	0.87932	D	0	-3.6202	13.7986	0.63186	0.0:0.924:0.0:0.076	.	283	Q13474	DRP2_HUMAN	Y	283;283;205;283	ENSP00000385038:S283Y;ENSP00000378635:S283Y;ENSP00000444752:S205Y;ENSP00000441051:S283Y	ENSP00000362007:S283Y	S	+	2	0	DRP2	100383989	0.973000	0.33851	0.995000	0.50966	0.997000	0.91878	3.696000	0.54757	1.069000	0.40788	0.594000	0.82650	TCC		0.478	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		46	226	1	0	8.21e-20	9.33e-20	46	226				
KIAA1210	57481	broad.mit.edu	37	X	118222748	118222748	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:118222748G>A	ENST00000402510.2	-	11	2444	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	815										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGATTCTGAGAAGACTTCTT	0.483																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(2443-2445)TTC>TTT		hypothetical protein LOC57481							40.0	38.0	39.0					X																	118222748		1848	4089	5937	SO:0001819	synonymous_variant	57481							g.chrX:118222748G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2445C>T	X.37:g.118222748G>A							p.F815F	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2445	-			815					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.2445C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	2.615	-0.289811	0.05568	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.41	2.6	0.31112	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20042	-1.0287	4	.	.	.	.	4.4414	0.11575	0.1172:0.0:0.6627:0.2202	.	.	.	.	F	222	.	.	L	-	1	0	KIAA1210	118106776	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.287000	0.18920	0.555000	0.29079	-0.192000	0.12808	CTC		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		6	28	0	0	0	0	6	28				
GPR112	139378	broad.mit.edu	37	X	135428693	135428693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:135428693C>T	ENST00000394143.1	+	6	3119	c.2828C>T	c.(2827-2829)tCa>tTa	p.S943L	GPR112_ENST00000412101.1_Missense_Mutation_p.S738L|GPR112_ENST00000370652.1_Missense_Mutation_p.S943L|GPR112_ENST00000394141.1_Missense_Mutation_p.S738L|GPR112_ENST00000287534.4_Missense_Mutation_p.S880L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	943					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGACTTCAGAGACATCT	0.423																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2827-2829)TCA>TTA		G-protein coupled receptor 112							145.0	140.0	142.0					X																	135428693		2202	4300	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428693C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2828C>T	X.37:g.135428693C>T	ENSP00000377699:p.Ser943Leu					GPR112_uc010nsb.1_Missense_Mutation_p.S738L|GPR112_uc010nsc.1_Missense_Mutation_p.S710L	p.S943L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3119	+	Acute lymphoblastic leukemia(192;0.000127)		943			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2828C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799424	0.31869	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40225	1.08;1.08;1.04;1.14;1.04	2.46	2.46	0.29980	.	.	.	.	.	T	0.47948	0.1473	L	0.29908	0.895	0.20403	N	0.999909	D;D;D	0.61080	0.989;0.989;0.981	D;D;D	0.72625	0.978;0.978;0.95	T	0.20874	-1.0262	9	0.87932	D	0	.	7.7423	0.28848	0.0:1.0:0.0:0.0	.	880;738;943	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	943;943;738;880;738	ENSP00000377699:S943L;ENSP00000359686:S943L;ENSP00000416526:S738L;ENSP00000287534:S880L;ENSP00000377697:S738L	ENSP00000287534:S880L	S	+	2	0	GPR112	135256359	1.000000	0.71417	0.928000	0.36995	0.085000	0.17905	1.605000	0.36815	1.530000	0.49136	0.179000	0.17066	TCA		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			36	168	0	0	0	0	36	168				
L1CAM	3897	broad.mit.edu	37	X	153135917	153135917	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:153135917G>A	ENST00000370060.1	-	8	921	c.732C>T	c.(730-732)ttC>ttT	p.F244F	L1CAM_ENST00000370055.1_Silent_p.F239F|L1CAM_ENST00000361981.3_Silent_p.F239F|L1CAM_ENST00000370057.3_Silent_p.F244F|L1CAM_ENST00000538883.1_Silent_p.F246F|L1CAM_ENST00000361699.4_Silent_p.F244F|L1CAM_ENST00000543994.1_Silent_p.F246F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	244	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTGGTGGGGAAGAGCAGGC	0.637																																						uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(730-732)TTC>TTT		L1 cell adhesion molecule isoform 1 precursor							63.0	61.0	62.0					X																	153135917		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135917G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.732C>T	X.37:g.153135917G>A						L1CAM_uc004fjc.2_Silent_p.F244F|L1CAM_uc010nuo.2_Silent_p.F239F|L1CAM_uc004fjd.1_Silent_p.F58F|L1CAM_uc004fje.1_Silent_p.F239F	p.F244F	NM_000425	NP_000416	P32004	L1CAM_HUMAN			7	840	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		244			Extracellular (Potential).|Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.732C>T	CCDS14733.1																																																																																				0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		9	36	0	0	0	0	9	36				
PADI2	11240	broad.mit.edu	37	1	17413121	17413121	+	Frame_Shift_Del	DEL	A	A	-	rs2076615	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:17413121delA	ENST00000375486.4	-	7	792	c.729delT	c.(727-729)ggtfs	p.G244fs	PADI2_ENST00000375481.1_Frame_Shift_Del_p.G244fs|PADI2_ENST00000444885.2_Frame_Shift_Del_p.V162fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	244					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCGCGGAGCCACCCGTGTACT	0.597																																						uc001baf.2		NA																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(727-729)GGTfs		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						80.0	83.0	82.0					1																	17413121		2203	4300	6503	SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413121delA	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.729delT	1.37:g.17413121delA	ENSP00000364635:p.Gly244fs					PADI2_uc010ocm.1_Frame_Shift_Del_p.V162fs|PADI2_uc001bag.1_Frame_Shift_Del_p.G243fs	p.G243fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	7	811	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	243					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.729delT	CCDS177.1																																																																																				0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			8	74	NA	NA	NA	NA	8	74	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26558965	26558966	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:26558965_26558966delTT	ENST00000256737.3	+	10	1841_1842	c.989_990delTT	c.(988-990)cttfs	p.L330fs	ANO3_ENST00000531568.1_Frame_Shift_Del_p.L184fs|ANO3_ENST00000525139.1_Frame_Shift_Del_p.L314fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.L314fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	330					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCGTAAACTTATAAACAATG	0.361																																						uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(988-990)CTTfs		transmembrane protein 16C																																				SO:0001589	frameshift_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26558965_26558966delTT	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.989_990delTT	11.37:g.26558965_26558966delTT	ENSP00000256737:p.Leu330fs					ANO3_uc010rdr.1_Frame_Shift_Del_p.L314fs|ANO3_uc010rds.1_Frame_Shift_Del_p.L169fs|ANO3_uc010rdt.1_Frame_Shift_Del_p.L184fs	p.L330fs	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			10	1134_1135	+			330			Cytoplasmic (Potential).		B7Z3F5	Frame_Shift_Del	DEL	ENST00000256737.3	37	c.989_990delTT	CCDS31447.1																																																																																				0.361	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		16	82	NA	NA	NA	NA	16	82	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29052346	29052346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29052346delT	ENST00000257189.4	+	13	2080	c.1997delT	c.(1996-1998)attfs	p.I666fs		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	666					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAGGAACAATTCATCAGTGG	0.453																																						uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1996-1998)ATTfs		desmoglein 3 preproprotein							98.0	100.0	99.0					18																	29052346		2203	4300	6503	SO:0001589	frameshift_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052346delT	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1997delT	18.37:g.29052346delT	ENSP00000257189:p.Ile666fs					DSG3_uc002kwt.2_5'Flank	p.I666fs	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2106	+			666			Cytoplasmic (Potential).		A8K2V2	Frame_Shift_Del	DEL	ENST00000257189.4	37	c.1997delT	CCDS11898.1																																																																																				0.453	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		13	42	NA	NA	NA	NA	13	42	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155102369	155102369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:155102369delC	ENST00000392825.3	+	7	1298	c.731delC	c.(730-732)actfs	p.T244fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.T244fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	244					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGTGATGATACTTTTGAATAT	0.373																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(730-732)ACTfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							126.0	124.0	125.0					2																	155102369		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102369delC	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.731delC	2.37:g.155102369delC	ENSP00000376570:p.Thr244fs					GALNT13_uc002tyt.3_Frame_Shift_Del_p.T244fs|GALNT13_uc010foc.1_Frame_Shift_Del_p.T63fs|GALNT13_uc010fod.2_5'UTR	p.T244fs	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			7	1298	+			244			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.731delC	CCDS2199.1																																																																																				0.373	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		17	68	NA	NA	NA	NA	17	68	---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91836982	91836982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:91836982delT	ENST00000417640.2	+	3	499	c.162delT	c.(160-162)tatfs	p.Y54fs	RP11-662G23.1_ENST00000517884.1_RNA|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	54	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAAAGCATATTTTGCAGATG	0.313																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(160-162)TATfs		N-terminal EF-hand calcium binding protein 1							51.0	49.0	50.0					8																	91836982		1825	4071	5896	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91836982delT	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.162delT	8.37:g.91836982delT	ENSP00000387380:p.Tyr54fs						p.Y54fs	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		3	356	+			54			EF-hand 1.		Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.162delT	CCDS47889.1																																																																																				0.313	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4	NA	NA	NA	NA	2	4	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993120	144993122	+	In_Frame_Del	DEL	GAT	GAT	-	rs371565831		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:144993120_144993122delGAT	ENST00000322810.4	-	32	11447_11449	c.11278_11280delATC	c.(11278-11280)atcdel	p.I3760del	PLEC_ENST00000436759.2_In_Frame_Del_p.I3650del|PLEC_ENST00000357649.2_In_Frame_Del_p.I3627del|PLEC_ENST00000527096.1_In_Frame_Del_p.I3646del|PLEC_ENST00000354958.2_In_Frame_Del_p.I3601del|PLEC_ENST00000354589.3_In_Frame_Del_p.I3623del|PLEC_ENST00000345136.3_In_Frame_Del_p.I3623del|PLEC_ENST00000356346.3_In_Frame_Del_p.I3609del|PLEC_ENST00000398774.2_In_Frame_Del_p.I3591del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3760	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAATGATCTCGATGATGATGATG	0.621																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11278-11280)ATCdel		plectin isoform 1																																				SO:0001651	inframe_deletion	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993120_144993122delGAT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11278_11280delATC	8.37:g.144993129_144993131delGAT	ENSP00000323856:p.Ile3760del					PLEC_uc003zab.1_In_Frame_Del_p.I3623del|PLEC_uc003zac.1_In_Frame_Del_p.I3627del|PLEC_uc003zad.2_In_Frame_Del_p.I3623del|PLEC_uc003zae.1_In_Frame_Del_p.I3591del|PLEC_uc003zag.1_In_Frame_Del_p.I3601del|PLEC_uc003zah.2_In_Frame_Del_p.I3609del|PLEC_uc003zaj.2_In_Frame_Del_p.I3650del	p.I3760del	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11448_11450	-			3760			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	ENST00000322810.4	37	c.11278_11280delATC	CCDS43772.1																																																																																				0.621	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	68	NA	NA	NA	NA	15	68	---	---	---	---
